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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MST1P9	11223	broad.mit.edu	37	1	17086870	17086870	+	Missense_Mutation	SNP	T	T	C	rs114170948	by1000genomes	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:17086870T>C	uc010ock.2	-	3	454	c.454A>G	c.(454-456)Agc>Ggc	p.S152G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.S152G(1)|p.S157G(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GATTTGATGCTGCAGCTCTGG	0.637000													4	74					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:2762757A>C	uc002crf.3	-	5	1128	c.737T>G	c.(736-738)gTg>gGg	p.V246G	PRSS27_uc002cre.3_Missense_Mutation_p.V210G|PRSS27_uc002crg.3_Missense_Mutation_p.V144G	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	Homo sapiens protease, serine 27 (PRSS27), mRNA.	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667000													7	46					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62219326	62219326	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:62219326A>G	uc002agz.3	-	51	6571	c.6480T>C	c.(6478-6480)ccT>ccC	p.P2160P	VPS13C_uc002aha.3_Silent_p.P2117P|VPS13C_uc002ahb.2_Silent_p.P2160P|VPS13C_uc002ahc.2_Silent_p.P2117P	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2160					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						CTCTGAGAAAAGGGCAAGCGA	0.423000													3	102					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35101777	35101777	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:35101777G>A	uc003zwi.3	-	4	437	c.374C>T	c.(373-375)gCc>gTc	p.A125V	STOML2_uc011lou.2_Missense_Mutation_p.A125V	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	125						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)			CTGGGTGACGGCATACTCAGG	0.507000													4	82					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999438	112999438	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:112999438G>T	uc001ebx.3	+	5	1552	c.1324G>T	c.(1324-1326)Gct>Tct	p.A442S	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	442						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)		GGGGTCATCAGCTAGCAGCCC	0.542000													3	57					0.004672	0.00480549	1	1	0
TLR5	7100	broad.mit.edu	37	1	223286235	223286235	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:223286235T>A	uc021pjl.1	-	0	139	c.139A>T	c.(139-141)Acc>Tcc	p.T47S	TLR5_uc001hnv.2_Missense_Mutation_p.T47S|TLR5_uc001hnw.2_Missense_Mutation_p.T47S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	47					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTCAGTGGTGTTGAGGACC	0.547000													55	76					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204413511	204413511	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:204413511A>G	uc001haw.3	-	17	3199	c.2720T>C	c.(2719-2721)aTt>aCt	p.I907T	PIK3C2B_uc010pqv.2_Missense_Mutation_p.I879T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	907					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGTGAGCCAATCCACTGCAC	0.582000													19	19					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323557	127323557	+	Missense_Mutation	SNP	C	C	T	rs145226158	by1000genomes	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:127323557C>T	uc003ejp.3	+	2	400	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_5'UTR	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	115	Interaction with MYST2 (By similarity).				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|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGCAGCAGAGCGGGCCATGCG	0.692000													3	80					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748425	30748425	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr10:30748425T>G	uc001ivi.2	+	7	1880	c.1268T>G	c.(1267-1269)aTt>aGt	p.I423S	MAP3K8_uc009xlf.2_Missense_Mutation_p.I423S|MAP3K8_uc001ivj.2_Missense_Mutation_p.I423S	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	423			Missing (in oncogenic form).		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)				CCTGAGAACATTGCTGGTAGG	0.527000													14	21					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chrX:66765161A>T	uc004dwu.2	+	0	1288	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_uc011mpd.2_Missense_Mutation_p.Q58L|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.Q58L|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	58	Gln-rich.|Modulating.|Poly-Gln.				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	p.Q58L(4)|p.L57Q(3)		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)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				3	52					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879055	39879055	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:39879055A>G	uc009vvt.1	+	0	3880	c.3118A>G	c.(3118-3120)Acc>Gcc	p.T1040A	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.	904	Ala-rich.							p.T904A(1)		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)			AGAGGAGCCCACCTCCCCAGC	0.721000													5	23					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9583300	9583300	+	RNA	SNP	C	C	T	rs3891016		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:9583300C>T	uc021qut.1	-	0		c.37G>A			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		TGCCGAGTGGCCGCATGCAGC	0.667000													4	81					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023889	76023889	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:76023889T>A	uc010kbe.3	-	5	2198	c.1668A>T	c.(1666-1668)aaA>aaT	p.K556N	FILIP1_uc003phy.1_Missense_Mutation_p.K553N|FILIP1_uc003phz.3_Missense_Mutation_p.K454N|FILIP1_uc003pia.3_Missense_Mutation_p.K553N|FILIP1_uc003pib.1_Missense_Mutation_p.K305N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	553										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTTTAAAAGTTTCTTACTTT	0.299000													35	74					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25760681	25760681	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr4:25760681T>A	uc003gru.4	-	20	3117	c.2965A>T	c.(2965-2967)Aac>Tac	p.N989Y	SEL1L3_uc003grv.3_Missense_Mutation_p.N396Y	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	989						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGGCCAGGTTAAAAAATCCC	0.373000													6	74					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000													3	79					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480036	27480036	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:27480036G>C	uc002rjk.3	-	4	949	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	SLC30A3_uc002rjj.3_Silent_p.S100S|SLC30A3_uc010ylh.2_Missense_Mutation_p.L250V	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	255					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGATGAGGATGGAGGCA	0.612000													38	102					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19442276	19442276	+	RNA	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr13:19442276C>T	uc010tcj.1	-	0		c.3834G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGAATTCTACGTATACAAAA	0.249000													5	114					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25021252	25021252	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr13:25021252G>C	uc001upl.3	-	25	3293	c.3187C>G	c.(3187-3189)Cca>Gca	p.P1063A		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1063					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)		GGCACATCTGGATTGAGTTGC	0.488000													26	83					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42399919	42399919	+	Splice_Site	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:42399919C>T	uc002ign.2	-	5	345	c.191_splice	c.e5-1	p.L64_splice	SLC25A39_uc002igm.2_Intron|SLC25A39_uc010wiw.1_Intron|SLC25A39_uc010wix.1_Intron|SLC25A39_uc010wiy.1_Splice_Site_p.V49_splice	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	64					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGAGGAGGGCACTGGGGAAA	0.587000													52	39					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369879	10369879	+	Missense_Mutation	SNP	C	C	T	rs148833814		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:10369879C>T	uc002gmn.3	-	2	295	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	62	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(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						TCGGTCTTGGCTGTCACCTTC	0.463000													50	55					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232539257	232539257	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:232539257C>T	uc001hvg.3	-	18	5035	c.4877G>A	c.(4876-4878)gGg>gAg	p.G1626E	SIPA1L2_uc001hvf.3_Missense_Mutation_p.G682E	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1626					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)				CTCTTGGGCCCCTTCCAGGTC	0.562000													22	28					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367020	12367020	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr18:12367020A>G	uc002kqz.2	-	4	690	c.496T>C	c.(496-498)Tcc>Ccc	p.S166P		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.	166					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)	TCTCTCCCGGATCTCTTGAGC	0.448000													36	65					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45502876	45502876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr21:45502876G>A	uc002zea.3	+	13	2100	c.1931G>A	c.(1930-1932)tGg>tAg	p.W644*	TRAPPC10_uc010gpo.3_Nonsense_Mutation_p.W355*|TRAPPC10_uc011afa.2_Nonsense_Mutation_p.W63*	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	644					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						ACTGCGGAGTGGCTTACCAAG	0.512000													29	29					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236173	67236173	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:67236173G>C	uc002esa.3	+	12	1449	c.1406G>C	c.(1405-1407)cGt>cCt	p.R469P	ELMO3_uc002esb.3_Missense_Mutation_p.R452P|ELMO3_uc002esc.3_Missense_Mutation_p.R303P	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	416	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GAGCTGCTCCGTGTTGGGGAG	0.642000													50	42					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95867964	95867964	+	Silent	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:95867964T>G	uc001tec.3	+	0	143	c.9T>G	c.(7-9)ggT>ggG	p.G3G	METAP2_uc010suv.2_Silent_p.G3G|METAP2_uc001tef.3_Silent_p.G3G|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	3					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)	ACATGGCGGGTGTGGAGGAGG	0.652000													9	61					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32873357	32873357	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:32873357G>T	uc002xai.3	-	8	1195	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	AHCY_uc002xaj.3_Silent_p.G324G	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	352					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTGGGGTGGCCCATGGCAC	0.607000													6	64					0.00198382	0.00208012	1	1	0
FBXO11	80204	broad.mit.edu	37	2	48132850	48132850	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:48132850C>G	uc002rwe.3	-	0	83	c.10G>C	c.(10-12)Gtc>Ctc	p.V4L	FBXO11_uc002rwg.2_Missense_Mutation_p.V4L	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	4					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCGGCTCGGACGGAGTTCATT	0.721000			"""Mis, F, D"""		DLBCL								11	29					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23397402	23397402	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:23397402A>G	uc001whm.1	-	2	339	c.248T>C	c.(247-249)gTg>gCg	p.V83A	PRMT5_uc001whl.1_Missense_Mutation_p.V66A|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tnh.1_Intron|PRMT5_uc010tng.1_Intron|PRMT5_uc001whn.1_Missense_Mutation_p.V66A|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	83					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)		AAGCTTTCCCACAATTAGCGT	0.433000													29	44					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113740442	113740442	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr5:113740442A>G	uc003kqo.3	+	2	1347	c.890A>G	c.(889-891)aAt>aGt	p.N297S		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.	297						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			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)		ATAAACTTCAATACACGTTTT	0.373000													18	44					0	0	1	0	0
GPR150	285601	broad.mit.edu	37	5	94957233	94957233	+	Silent	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr5:94957233A>C	uc003kle.1	+	0	1254	c.1254A>C	c.(1252-1254)ccA>ccC	p.P418P		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.	418	Poly-Pro.					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GCTTGCGCCCACCCCCTCCGC	0.682000													3	39					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913574	52913574	+	Silent	SNP	G	G	T	rs61726459		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:52913574G>T	uc001san.3	-	0	670	c.507C>A	c.(505-507)cgC>cgA	p.R169R	KRT5_uc009zmh.3_Silent_p.R169R	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	169	Coil 1A.|Rod.		R -> P (in DM-EBS; dbSNP:rs60720877).		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)		TGATCTGCTCGCGCTCCTCGG	0.502000													4	143					0.00909568	0.0092673	1	1	0
BLMH	642	broad.mit.edu	37	17	28614937	28614937	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:28614937G>A	uc002hez.2	-	3	697	c.350C>T	c.(349-351)gCt>gTt	p.A117V	BLMH_uc010wbn.2_Missense_Mutation_p.A30V	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	117					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						GTCCACAAAAGCACTCAAGAA	0.388000													14	50					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558884	52558884	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:52558884G>A	uc003den.3	-	12	1401	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	NT5DC2_uc003dem.3_Missense_Mutation_p.A287V|NT5DC2_uc010hmi.3_Missense_Mutation_p.A429V|NT5DC2_uc010hmj.3_Missense_Mutation_p.A233V|NT5DC2_uc003deo.3_Missense_Mutation_p.A417V	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	417							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCTCGACTCCGCGTCCTGATA	0.667000													3	61					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:221057861G>A	uc001hmv.4	+	3	1739	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	428	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S427G(1)|p.G431delG(1)		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)		tgggagcagcggcggcggcgg	0.642000													3	82					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157244	26157244	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:26157244C>T	uc003ngq.3	+	0	686	c.626C>T	c.(625-627)gCc>gTc	p.A209V	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.	209					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						CCCAAGGCAGCCAAGCCAAAG	0.542000													4	117					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740610	53740610	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:53740610T>C	uc002qbg.1	-	4	1521	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R	ZNF677_uc002qbf.1_Missense_Mutation_p.K457R	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	457					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)		TTTGTAAGGTTTTTCTCCAGT	0.378000													22	50					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751319	40751319	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:40751319G>A	uc001zlu.2	+	1	727	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	BAHD1_uc001zlt.2_Missense_Mutation_p.R219Q|BAHD1_uc010bbp.1_Missense_Mutation_p.R219Q|BAHD1_uc001zlv.2_Missense_Mutation_p.R219Q	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	219					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGCCAGGAGCGGGAGCTACCC	0.647000													23	20					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186023105	186023105	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:186023105T>G	uc001grq.1	+	43	7078	c.6849T>G	c.(6847-6849)aaT>aaG	p.N2283K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2283	Ig-like C2-type 20.				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						AAGAATACAATCTGCAAGTTT	0.363000													8	30					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822787	54822787	+	Silent	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:54822787A>C	uc002qfe.3	-	4	729	c.609T>G	c.(607-609)ccT>ccG	p.P203P	LILRA5_uc002qff.3_Silent_p.P191P|LILRA5_uc010yev.2_Silent_p.P203P|LILRA5_uc010yew.2_Silent_p.P191P|LILRA5_uc002qfg.1_Silent_p.P203P|LILRA5_uc002qfh.1_Silent_p.P191P	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGTCACAGGGCCCACAG	0.592000													34	53					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68386313	68386313	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:68386313G>A	uc002evy.2	+	15	1919	c.1575_splice	c.e15+1	p.R525_splice	PRMT7_uc010vlg.2_Splice_Site_p.R475_splice|PRMT7_uc002evz.2_Splice_Site_p.R297_splice|PRMT7_uc010cfd.1_Splice_Site_p.R17_splice	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	525					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGAGTTCAGGGTAGGCCACCC	0.622000													8	11					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088827	9088827	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:9088827T>C	uc002mkp.3	-	0	3192	c.2988A>G	c.(2986-2988)gtA>gtG	p.V996V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	996	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						TAGAGACCATTACAGTAGCAG	0.468000													29	59					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35736272	35736272	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:35736272T>C	uc003zxv.3	+	7	1198	c.745T>C	c.(745-747)Tct>Cct	p.S249P	CREB3_uc010mla.3_Missense_Mutation_p.S168P	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	273					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)		TATGTACTCCTCTGACACAAG	0.552000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20739884	20739884	+	Silent	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:20739884C>T	uc001ytk.2	-	7	1957	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	DQ594309_uc010tzb.1_5'Flank	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN	Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.	622	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						cctcctgctcctgtatcttct	0.547000													3	7					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281631	129281631	+	Splice_Site	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:129281631A>G	uc003emx.2	-	27	4925	c.4825_splice	c.e27+1	p.E1609_splice	PLXND1_uc011blb.1_Splice_Site_p.E277_splice	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1609					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						CCCACCCACCAAGGTCGACGT	0.627000													20	22					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5229984	5229984	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:5229984C>G	uc003bqi.3	+	0	626	c.494C>G	c.(493-495)cCc>cGc	p.P165R	EDEM1_uc011asz.1_5'UTR|EDEM1_uc021wsl.1_5'Flank	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	165					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGCCGTGGGCCCGACCGCGGG	0.736000													23	19					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	33					0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90756895	90756895	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:90756895C>A	uc001xyi.2	-	9	2132	c.1899G>T	c.(1897-1899)caG>caT	p.Q633H	C14orf102_uc010atp.1_Missense_Mutation_p.Q138H|C14orf102_uc001xyj.2_Missense_Mutation_p.Q402H	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	633							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)		CCAGCTGGAACTGAAGATCAT	0.458000													38	55					3.61848e-18	4.07079e-18	1	1	0
CACNB1	782	broad.mit.edu	37	17	37343149	37343149	+	Missense_Mutation	SNP	C	C	G	rs140435767	by1000genomes	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:37343149C>G	uc002hrm.2	-	4	656	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.3_Missense_Mutation_p.V150L|CACNB1_uc002hro.3_Missense_Mutation_p.V150L|CACNB1_uc002hrp.2_Missense_Mutation_p.V150L|CACNB1_uc010web.1_Missense_Mutation_p.V103L	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	150	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCTCCTTCACCAGCCGCCCG	0.572000													42	51					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535409	166535409	+	Missense_Mutation	SNP	A	A	G	rs144629858		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:166535409A>G	uc002udf.3	+	6	1280	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	CSRNP3_uc002udg.3_Missense_Mutation_p.M302V	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	302					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						CAGTAGTTCTATGGGCCCTGT	0.493000													4	150					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424419	179424419	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:179424419T>A	uc021vsy.1	-	274	78961	c.78736A>T	c.(78736-78738)Aat>Tat	p.N26246Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N19941Y|TTN_uc021vta.1_Missense_Mutation_p.N19874Y|TTN_uc021vtb.1_Missense_Mutation_p.N19749Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27173	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTGGCATTTTCAATGGTC	0.423000													39	96					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981965	70981965	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr8:70981965G>T	uc003xym.3	-	1	333	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	44					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)			CTCCACGGTGGCCAGGCTGTT	0.657000													4	44					0.000602214	0.000650392	1	1	0
LRRC71	149499	broad.mit.edu	37	1	156897772	156897772	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:156897772A>G	uc001fqm.2	+	8	1144	c.972A>G	c.(970-972)aaA>aaG	p.K324K	LRRC71_uc001fql.2_Silent_p.K109K	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	Homo sapiens leucine rich repeat containing 71 (LRRC71), mRNA.	324										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGCTGGAAAAAGGGACACAGG	0.677000											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	262					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800800	148800800	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:148800800A>G	uc003wfj.3	-	3	2296	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	721					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)			CACAAGAAAAAGGCCTCTCCC	0.567000													3	85					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56686242	56686242	+	Missense_Mutation	SNP	G	G	A	rs140849025		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr8:56686242G>A	uc003xsj.4	+	0	452	c.65G>A	c.(64-66)tGt>tAt	p.C22Y	TMEM68_uc003xsh.1_5'Flank|TMEM68_uc003xsi.1_5'Flank|TGS1_uc010lyh.3_5'UTR	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	22					RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGGGAGGATTGTAAGATACTG	0.488000													33	6					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73884465	73884465	+	Silent	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:73884465G>A	uc002avs.3	-	2	650	c.453C>T	c.(451-453)gtC>gtT	p.V151V	NPTN_uc010bjc.3_Silent_p.V151V|NPTN_uc002avt.3_Silent_p.V35V|NPTN_uc002avr.3_Silent_p.V35V|NPTN_uc010ula.2_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	151	Ig-like 2.|Narpin; mediates binding with FGFR1 and has antidepressant-like activity (By similarity).				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						CTTCACTGGTGACAATCCTTG	0.532000													19	34					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	116987	116987	+	RNA	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chrGL000205.1:116987C>T	uc002kgk.4	+	0		c.365C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTTTCATCACCTTAAATGGTT	0.478000													2	8					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10714185	10714185	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:10714185G>T	uc001aro.3	-	10	2249	c.1929C>A	c.(1927-1929)gaC>gaA	p.D643E	CASZ1_uc001arp.1_Missense_Mutation_p.D643E|CASZ1_uc009vmx.2_Missense_Mutation_p.D667E	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	643					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)		TCTTGAAGCCGTCCTTGGCGT	0.562000													3	82					0.150653	0.152061	1	1	0
ACY1	95	broad.mit.edu	37	3	52022828	52022828	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:52022828C>A	uc003dcp.3	+	13	1372	c.1048C>A	c.(1048-1050)Cgc>Agc	p.R350S	ACY1_uc011bea.2_Missense_Mutation_p.R440S|ACY1_uc003dcq.3_Missense_Mutation_p.R350S|ACY1_uc021wzb.1_Missense_Mutation_p.R315S|ACY1_uc021wzc.1_Missense_Mutation_p.R278S|ACY1_uc021wzd.1_Missense_Mutation_p.R285S	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	350					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CACTGACAACCGCTATATCCG	0.567000													53	55					3.30226e-22	3.79409e-22	1	1	0
TNIK	23043	broad.mit.edu	37	3	170846580	170846580	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:170846580G>A	uc003fhh.2	-	15	2041	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S	TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Missense_Mutation_p.P537S|TNIK_uc003fhk.2_Missense_Mutation_p.P566S|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Missense_Mutation_p.P537S|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	566	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			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)			TCCGACCTTGGGGGCAGGTTG	0.557000													36	50					0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35772168	35772168	+	Silent	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:35772168G>A	uc010zvu.2	-	11	1378	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	C20orf132_uc002xgk.3_Silent_p.H112H|C20orf132_uc002xgm.2_Silent_p.H429H|C20orf132_uc002xgn.2_Silent_p.H394H	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	314										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CGGCAGAGCTGTGGAGCTCCA	0.383000													5	138					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622225	37622225	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:37622225G>T	uc003onu.1	-	5	1986	c.807C>A	c.(805-807)ccC>ccA	p.P269P	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	269	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCTGGGGGAGGGGATCACCGC	0.642000													29	38					2.85442e-18	3.24502e-18	1	1	0
FAM182A	284800	broad.mit.edu	37	20	26061818	26061818	+	RNA	SNP	G	G	C	rs112101451	by1000genomes	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:26061818G>C	uc010gdq.3	+	3		c.879G>C								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.											breast(1)|endometrium(2)|kidney(1)	4						GATTTCTCCTGCTTAGAAATG	0.463000													4	123					0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67135057	67135057	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:67135057G>T	uc001okq.3	-	1	253	c.57C>A	c.(55-57)ctC>ctA	p.L19L	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.2_Silent_p.L9L	NM_013246	NP_001159684	Q9UBD9	CLCF1_HUMAN	Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.	19					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)			GGAGGTGCCAGAGCACCGTGC	0.662000													11	28					4.93089e-13	5.49006e-13	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46763676	46763676	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr22:46763676G>T	uc003bhw.1	-	27	8029	c.8029C>A	c.(8029-8031)Cgc>Agc	p.R2677S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2677					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)		AGTGCATCGCGGTTCACAGCC	0.657000											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	90					0.00116845	0.00124943	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62211580	62211580	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:62211580G>A	uc002agz.3	-	57	7637	c.7546C>T	c.(7546-7548)Cgg>Tgg	p.R2516W	VPS13C_uc002aha.3_Missense_Mutation_p.R2473W|VPS13C_uc002ahb.2_Missense_Mutation_p.R2516W|VPS13C_uc002ahc.2_Missense_Mutation_p.R2473W|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2516					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						TTGGGATTCCGTACATTATAC	0.423000													28	60					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99894085	99894085	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:99894085T>C	uc003ppx.2	-	13	2096	c.1563A>G	c.(1561-1563)agA>agG	p.R521R	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Silent_p.R201R	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	521			R -> T (in dbSNP:rs41288947).		ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACTACTGGATCTGAACAGCC	0.483000													18	32					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669247	80669247	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:80669247A>T	uc021rxa.1	-	2	768	c.715T>A	c.(715-717)Tcc>Acc	p.S239T	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.S203T|DIO2_uc010asy.3_Missense_Mutation_p.S203T	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	203					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)		GGCGGCAAGGAGAAACGCTCC	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	55					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72552951	72552951	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:72552951G>T	uc002auc.3	-	8	1083	c.624C>A	c.(622-624)ctC>ctA	p.L208L	PARP6_uc002aua.3_Silent_p.L73L|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.L208L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	208							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						AACGGTTCATGAGGCGCCCAA	0.557000													3	53					2.56e-06	2.82122e-06	1	1	0
NKPD1	284353	broad.mit.edu	37	19	45655438	45655438	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:45655438G>T	uc010xxi.2	-	3	2257	c.2257C>A	c.(2257-2259)Cgc>Agc	p.R753S	NKPD1_uc021uvt.1_Missense_Mutation_p.R531S	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGACCCATGCGCCGGCGGATG	0.716000													4	28					1	1	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7528456	7528456	+	Silent	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:7528456T>A	uc010sge.2	-	9	2582	c.2556A>T	c.(2554-2556)atA>atT	p.I852I	CD163L1_uc001qsy.3_Silent_p.I842I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	842	SRCR 8.					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						CAGAAAGAGATATGGCATCTC	0.458000													61	59					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178257705	178257705	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:178257705C>T	uc002ull.2	+	0	235	c.188C>T	c.(187-189)gCc>gTc	p.A63V	AGPS_uc010zfb.1_5'Flank|NFE2L2_uc002uli.4_5'Flank|NFE2L2_uc002ulk.1_5'Flank	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	63					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)			GCGCGGAGAGCCGCGTCGGCG	0.701000													4	102					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749148	43749148	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:43749148G>A	uc001zrs.3	-	11	1791	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	TP53BP1_uc010udp.2_Missense_Mutation_p.T548M|TP53BP1_uc001zrq.4_Missense_Mutation_p.T553M|TP53BP1_uc001zrr.4_Missense_Mutation_p.T553M|TP53BP1_uc010udq.1_Missense_Mutation_p.T553M	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	548					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)		CATGGGTTCCGTATCCTCAAT	0.408000								Other conserved DNA damage response genes					24	41					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66008916	66008916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:66008916T>A	uc001oha.2	+	21	2582	c.2448T>A	c.(2446-2448)taT>taA	p.Y816*	PACS1_uc010rou.2_Nonsense_Mutation_p.Y352*	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	816					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATAGCCCATATGGGGACGTGA	0.612000													15	25					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:53889347delA	uc003dha.3	+	5	547	c.508delA	c.(508-510)aaafs	p.K170fs		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	170					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383													9	282	---	---	---	---					
F13A1	2162	broad.mit.edu	37	6	6222265	6222266	+	Splice_Site	INS	-	-	CACA			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:6222265_6222266insCACA	uc003mwv.3	-	8	1235	c.1112_splice	c.e8+1	p.W371_splice	F13A1_uc011dib.2_Splice_Site_p.W308_splice	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	371					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)	ATCAAACTCACCACACTGAATC	0.376													22	33	---	---	---	---					
NOL7	51406	broad.mit.edu	37	6	13620991	13620992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:13620991_13620992insA	uc003naz.3	+	7	738_739	c.706_707insA	c.(706-708)caafs	p.Q236fs		NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	Homo sapiens nucleolar protein 7, 27kDa (NOL7), mRNA.	236						mitochondrion|nucleolus		p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			TCTAGGAATCCAAAAAAAACAA	0.267													7	302	---	---	---	---					
ENPP1	5167	broad.mit.edu	37	6	132211511	132211511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:132211511delG	uc011ecf.2	+	24	2658	c.2638delG	c.(2638-2640)gaafs	p.E880fs		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	880	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)	ATGGGTTGAAGAATTGTTAAT	0.388													46	121	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128483884	128483885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:128483884_128483885insG	uc003vnz.4	+	18	3055_3056	c.2846_2847insG	c.(2845-2847)gacfs	p.D949fs	FLNC_uc003voa.4_Frame_Shift_Ins_p.D949fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	949					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						TATGGCGGGGACCCTGTCCCCA	0.535													8	196	---	---	---	---					
DSCAML1	57453	broad.mit.edu	37	11	117389379	117389380	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:117389379_117389380insG	uc001prh.1	-	6	1493_1494	c.1491_1492insC	c.(1489-1494)cccacgfs	p.P497fs	DSCAML1_uc001pri.1_Frame_Shift_Ins_p.P301fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	437	Ig-like C2-type 5.				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.T498K(1)		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)		CAGGTGACCGTGGGGGGCGGGG	0.658													8	23	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	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)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													4	3	---	---	---	---					
