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
KIF3A	11127	broad.mit.edu	37	5	132051998	132051998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:132051998C>T	uc011cxf.2	-	6	1047	c.893G>A	c.(892-894)cGt>cAt	p.R298H	KIF3A_uc003kxn.3_Missense_Mutation_p.R257H|KIF3A_uc003kxo.3_Missense_Mutation_p.R298H|KIF3A_uc003kxp.3_Missense_Mutation_p.R298H	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	298	Kinesin-motor.				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)			TTTAGAGTTACGATAAGGCAC	0.383000														46			8		0	0	0.003080	0	0
WWOX	51741	broad.mit.edu	37	16	78466443	78466443	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr16:78466443A>G	uc002ffk.3	+	7	1199	c.850A>G	c.(850-852)Aaa>Gaa	p.K284E	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.K171E	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	284	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)		CTCTCCAACAAAAAACGACTA	0.478000														50			10		0	0	0.000443	0	0
CPSF3L	54973	broad.mit.edu	37	1	1249296	1249296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:1249296C>T	uc001aef.1	-	10	1304	c.791G>A	c.(790-792)cGc>cAc	p.R264H	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.R258H|CPSF3L_uc009vjz.1_Missense_Mutation_p.R236H|CPSF3L_uc010nyj.1_Missense_Mutation_p.R229H|CPSF3L_uc001aeg.1_Missense_Mutation_p.R134H|CPSF3L_uc001aeh.1_Missense_Mutation_p.R157H|CPSF3L_uc001aei.1_Missense_Mutation_p.R160H|CPSF3L_uc001aek.1_5'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	258						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CAGGTTCATGCGCTCCCTGGG	0.627000														63			4		0	0	0.000248	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103513872	103513872	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr13:103513872T>C	uc001vpu.2	+	14	2172	c.2050T>C	c.(2050-2052)Tca>Cca	p.S684P	BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.S230P|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.S230P|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.S62P	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	655					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGATGACTTTTCACAGTACCA	0.353000														74			15		0	0	0.004007	0	0
LRRC1	55227	broad.mit.edu	37	6	53660191	53660191	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:53660191A>G	uc003pcd.1	+	0	658	c.137A>G	c.(136-138)aAc>aGc	p.N46S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	46						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)		CTGGACGCCAACCAGCTCCGC	0.662000														21			5		0	0	0.001168	0	0
AP3B2	8120	broad.mit.edu	37	15	83335548	83335548	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr15:83335548C>A	uc010uoi.2	-	14	1980	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	AP3B2_uc010uoh.2_Missense_Mutation_p.K601N|AP3B2_uc010uoj.2_Missense_Mutation_p.K569N|AP3B2_uc010uog.2_Missense_Mutation_p.K237N	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	601					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGGAAGAGCTTCTTGGCAT	0.567000														73			7		3.86212e-05	6.71673e-05	0.000673	1	0
TDRD9	122402	broad.mit.edu	37	14	104492057	104492057	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr14:104492057G>T	uc001yom.4	+	25	2905	c.2875G>T	c.(2875-2877)Gat>Tat	p.D959Y	TDRD9_uc001yon.4_Missense_Mutation_p.D697Y	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	959	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)				TGCTGATTTTGATAAACAACG	0.443000														250			11		9.70103e-10	1.81894e-09	0.000673	1	0
THBD	7056	broad.mit.edu	37	20	23029065	23029065	+	Silent	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr20:23029065G>A	uc002wss.3	-	0	1237	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.D300D	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	359	EGF-like 3; calcium-binding (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CACACTCGCCGTCCACCAGGT	0.617000														53			7		0	0	0.003080	0	0
USP18	11274	broad.mit.edu	37	22	18650053	18650053	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr22:18650053C>T	uc002zny.3	+	4	770	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA.	144					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCCAACTGTACCTCAAACTCT	0.473000														131			51		0	0	0.003610	0	0
PTPRK	5796	broad.mit.edu	37	6	128306985	128306985	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:128306985G>T	uc003qbk.3	-	21	3496	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	PTPRK_uc010kfc.3_Missense_Mutation_p.F1050L|PTPRK_uc003qbj.3_Missense_Mutation_p.F1044L|PTPRK_uc011ebu.2_Missense_Mutation_p.F1066L	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1043	Tyrosine-protein phosphatase 1.				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)		CCGTGAAATGGAACTGTTTAA	0.463000														95			13		2.61681e-11	5.0648e-11	0.002450	1	0
KLHL13	90293	broad.mit.edu	37	X	117043438	117043438	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:117043438T>C	uc011mtp.2	-	5	1334	c.1201A>G	c.(1201-1203)Agt>Ggt	p.S401G	KLHL13_uc004eqk.3_Missense_Mutation_p.S347G|KLHL13_uc004eql.3_Missense_Mutation_p.S398G|KLHL13_uc011mtn.2_Missense_Mutation_p.S238G|KLHL13_uc011mto.2_Missense_Mutation_p.S392G|KLHL13_uc011mtq.2_Missense_Mutation_p.S382G|KLHL13_uc004eqm.3_Missense_Mutation_p.S356G|KLHL13_uc022cde.1_Missense_Mutation_p.S382G	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	398					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						TCATAATTACTCTGTCCGCCA	0.433000														51			6		0	0	0.001168	0	0
C5orf42	65250	broad.mit.edu	37	5	37125477	37125477	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:37125477T>C	uc011cpa.1	-	45	8896	c.8665A>G	c.(8665-8667)Act>Gct	p.T2889A	C5orf42_uc003jkp.1_Intron|C5orf42_uc011coy.1_Missense_Mutation_p.T1407A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T1982A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2889										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)			TCCTTGTCAGTTCTTTGTGAA	0.348000														79			9		0	0	0.000673	0	0
LOC642846	642846	broad.mit.edu	37	12	9453702	9453702	+	RNA	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr12:9453702C>T	uc001qvp.2	+	0		c.13C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.P370S(2)									GGTGGTGCTGCCCTATCAGAT	0.662000														6			4		0	0	0.000602	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028285	59028285	+	Silent	SNP	C	T	T	rs139996055		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:59028285C>T	uc002qtd.3	-	1	1048	c.756G>A	c.(754-756)gcG>gcA	p.A252A	ZBTB45_uc002qtf.3_Silent_p.A252A	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	252					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)		GCTCCTCGCACGCGCTGTCAG	0.642000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		195			6		0	0	0.001984	0	0
GABRA2	2555	broad.mit.edu	37	4	46314618	46314618	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:46314618G>T	uc011bzc.1	-	3	618	c.206C>A	c.(205-207)cCa>cAa	p.P69Q	GABRA2_uc003gxc.3_Missense_Mutation_p.P124Q|GABRA2_uc010igc.2_Missense_Mutation_p.P124Q|GABRA2_uc003gxe.3_Missense_Mutation_p.P124Q			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	124					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGGTATCTGGAGTCCAGAT	0.348000														86			6		3.59834e-05	6.35e-05	0.001168	1	0
COIL	8161	broad.mit.edu	37	17	55027963	55027963	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:55027963G>C	uc002iuu.3	-	1	671	c.640C>G	c.(640-642)Cag>Gag	p.Q214E		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	214						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTACATCTCTGATTGGCCCAG	0.403000														93			32		0	0	0.002836	0	0
BRS3	680	broad.mit.edu	37	X	135574443	135574443	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:135574443C>T	uc004ezv.1	+	2	1258	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	370					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTGATGGGAACGGTCCCGGGC	0.522000														108			11		0	0	0.000673	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287597	29287597	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr13:29287597T>C	uc001usj.3	-	2	822	c.280A>G	c.(280-282)Att>Gtt	p.I94V	SLC46A3_uc001usg.3_Missense_Mutation_p.I19V|SLC46A3_uc001usi.3_Missense_Mutation_p.I94V|SLC46A3_uc001ush.3_Missense_Mutation_p.I94V|SLC46A3_uc001usk.3_Missense_Mutation_p.I19V	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	94					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TGATCACTAATAGACAAAAGT	0.398000														15			10		0	0	0.000673	0	0
MARS	4141	broad.mit.edu	37	12	57905574	57905574	+	Missense_Mutation	SNP	G	A	A	rs11540811		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr12:57905574G>A	uc001sog.3	+	11	1616	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.D361N|MARS_uc010srq.1_Missense_Mutation_p.D254N|MARS_uc001soh.1_5'Flank	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	488					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)	TTGGCTTCGGGATGGCCTCAA	0.512000														57			10		0	0	0.000443	0	0
IL6	3569	broad.mit.edu	37	7	22767201	22767201	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr7:22767201T>C	uc003svj.4	+	1	274	c.158T>C	c.(157-159)aTt>aCt	p.I53T	LOC541472_uc010kun.2_Non-coding_Transcript|IL6_uc011jyo.1_Missense_Mutation_p.I53T|IL6_uc011jyp.1_Intron|IL6_uc011jyq.1_Missense_Mutation_p.I107T	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	53					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TCAGAACGAATTGACAAACAA	0.577000														59			16		0	0	0.004007	0	0
DSCAM	1826	broad.mit.edu	37	21	41561098	41561098	+	Silent	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr21:41561098G>A	uc002yyq.1	-	11	2876	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	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.	808	Ig-like C2-type 9.				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)				GCGCCGTGCAGCTCATCTCCT	0.512000														65			8		0	0	0.003080	0	0
FAM131B	9715	broad.mit.edu	37	7	143054020	143054020	+	Missense_Mutation	SNP	C	G	G	rs147792476	by1000genomes	TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr7:143054020C>G	uc010lpa.3	-	6	850	c.706G>C	c.(706-708)Gat>Cat	p.D236H	FAM131B_uc010loz.3_Missense_Mutation_p.D176H|FAM131B_uc003wct.3_Missense_Mutation_p.D208H|FAM131B_uc003wcu.4_Missense_Mutation_p.D208H	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	208										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGGGACTGATCGCTGGCTTCC	0.567000														80			9		0	0	0.000673	0	0
COLEC10	10584	broad.mit.edu	37	8	120103450	120103450	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:120103450G>T	uc003yoo.3	+	2	380	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	95	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGGCCCATTGGGAAGAAGGG	0.428000														41			11		2.80697e-09	5.18211e-09	0.000978	1	0
GFOD1	54438	broad.mit.edu	37	6	13365622	13365622	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:13365622C>T	uc003nat.2	-	1	1273	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GFOD1_uc021ylt.1_Missense_Mutation_p.V73M|GFOD1_uc003nas.2_Missense_Mutation_p.V73M	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	176						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TAGGTGCCCACGGAGTGCAGG	0.632000														23			7		0	0	0.001984	0	0
FLNB	2317	broad.mit.edu	37	3	58120488	58120488	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:58120488G>C	uc003djj.2	+	26	4825	c.4660G>C	c.(4660-4662)Gtt>Ctt	p.V1554L	FLNB_uc010hne.2_Missense_Mutation_p.V1585L|FLNB_uc003djk.2_Missense_Mutation_p.V1554L|FLNB_uc010hnf.2_Missense_Mutation_p.V1554L|FLNB_uc003djl.2_Missense_Mutation_p.V1385L|FLNB_uc003djm.2_Missense_Mutation_p.V1385L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1554					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)		CCTGCTTGCTGTTCAAATAAC	0.478000														136			13		0	0	0.001855	0	0
OSBPL5	114879	broad.mit.edu	37	11	3114832	3114832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr11:3114832C>T	uc001lxk.2	-	16	2029	c.1871G>A	c.(1870-1872)aGc>aAc	p.S624N	OSBPL5_uc010qxq.1_Missense_Mutation_p.S535N|OSBPL5_uc009ydw.2_Missense_Mutation_p.S556N|OSBPL5_uc001lxl.2_Missense_Mutation_p.S556N|OSBPL5_uc009ydx.3_Missense_Mutation_p.S648N|OSBPL5_uc001lxj.2_Missense_Mutation_p.S78N	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	624					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding	p.P623P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GACCTCCCCGCTCGGGGTCCA	0.672000														56			6		0	0	0.001168	0	0
NEO1	4756	broad.mit.edu	37	15	73570504	73570504	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr15:73570504C>A	uc002avm.4	+	21	3418	c.3226C>A	c.(3226-3228)Cca>Aca	p.P1076T	NEO1_uc010ukx.2_Missense_Mutation_p.P1065T|NEO1_uc010uky.2_Missense_Mutation_p.P1076T|NEO1_uc002avn.4_Missense_Mutation_p.P1069T|NEO1_uc010ukz.2_Missense_Mutation_p.P489T	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1076					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.P1076R(1)		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						AAGCCGGCTGCCAGACCTAGG	0.463000														121			13		1.52009e-12	2.99034e-12	0.003163	1	0
OPRK1	4986	broad.mit.edu	37	8	54142230	54142230	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:54142230C>T	uc003xrh.1	-	2	1145	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	OPRK1_uc022aup.1_Missense_Mutation_p.R137Q|OPRK1_uc003xri.1_Missense_Mutation_p.R257Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R168Q	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	257					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGAAAGGAGCCGGACGCTCTT	0.547000														58			6		0	0	0.003080	0	0
EPHB1	2047	broad.mit.edu	37	3	134670614	134670614	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:134670614C>T	uc003eqt.3	+	2	900	c.525C>T	c.(523-525)ctC>ctT	p.L175L	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	175						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						GTTTTTACCTCGCTTTTCAGG	0.463000														166			11		0	0	0.001855	0	0
LMNA	4000	broad.mit.edu	37	1	156104644	156104644	+	Missense_Mutation	SNP	G	T	T	rs61214927		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:156104644G>T	uc001fni.2	+	3	937	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	LMNA_uc001fnf.1_Missense_Mutation_p.D230Y|LMNA_uc001fng.2_Missense_Mutation_p.D230Y|LMNA_uc001fnh.2_Missense_Mutation_p.D230Y|LMNA_uc009wro.1_Missense_Mutation_p.D230Y|LMNA_uc010pgz.1_Missense_Mutation_p.D118Y|LMNA_uc001fnj.2_Missense_Mutation_p.D149Y|LMNA_uc001fnk.2_Missense_Mutation_p.D131Y|LMNA_uc009wrp.3_5'Flank|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	230	Linker 2.|Rod.		D -> N (in FPLD2).		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)					GGTGGAGATTGACAATGGGAA	0.567000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					372			64		7.05995e-25	1.41199e-24	0.003610	1	0
NTNG1	22854	broad.mit.edu	37	1	107691255	107691255	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:107691255G>A	uc001dvh.4	+	1	758	c.40G>A	c.(40-42)Gtt>Att	p.V14I	NTNG1_uc001dvc.4_Missense_Mutation_p.V14I|NTNG1_uc010out.2_Missense_Mutation_p.V14I|NTNG1_uc001dvf.4_Missense_Mutation_p.V14I|NTNG1_uc001dvd.1_Missense_Mutation_p.V14I	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	14					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGCCCTTTGGGTTACGGTGTC	0.413000														116			9		0	0	0.000443	0	0
NUP210	23225	broad.mit.edu	37	3	13415274	13415274	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:13415274A>C	uc003bxv.1	-	11	1614	c.1531T>G	c.(1531-1533)Ttc>Gtc	p.F511V	NUP210_uc003bxx.3_Missense_Mutation_p.F183V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	511					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)					ATCACACTGAACCCGATGTCA	0.577000														36			7		0	0	0.004482	0	0
PSG8	440533	broad.mit.edu	37	19	43259214	43259214	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:43259214G>C	uc002ouo.2	-	3	1012	c.914C>G	c.(913-915)aCa>aGa	p.T305R	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T305R|PSG8_uc010ein.3_Missense_Mutation_p.T183R|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	305	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATAGGGTCCTGTTTCATTTCT	0.488000														201			8		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	14	107062359	107062359	+	RNA	SNP	G	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr14:107062359G>T	uc021ser.1	-	150		c.6627C>A								Parts of antibodies, mostly variable regions.																		AGACAGCGCAGATGAGGGACA	0.607000														44			5		3.59834e-05	6.35e-05	0.001168	1	0
PSMC4	5704	broad.mit.edu	37	19	40480736	40480736	+	Splice_Site	SNP	G	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:40480736G>C	uc002omq.3	+	6	710	c.673_splice	c.e6+1	p.A225_splice	PSMC4_uc002omr.3_Splice_Site_p.A194_splice	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	225					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACACAACAGGTGAGCCCTTT	0.587000														37			3		0	0	0.004672	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28904082	28904082	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:28904082C>T	uc001bqi.3	+	8	892	c.798C>T	c.(796-798)gaC>gaT	p.D266D	TRNAU1AP_uc001bqh.3_Silent_p.D156D|TRNAU1AP_uc010ofw.2_Silent_p.D156D	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN	Homo sapiens tRNA selenocysteine 1 associated protein 1 (TRNAU1AP), transcript variant 1, mRNA.	266					selenocysteine incorporation	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGCTGTATGACGCTCTGATGG	0.552000														148			11		0	0	0.000673	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779710	133779710	+	Splice_Site	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr9:133779710C>T	uc004bzz.3	-	7	1372	c.1127_splice	c.e7-1	p.G376_splice	FIBCD1_uc011mcc.2_Splice_Site_p.G376_splice	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	376	Fibrinogen C-terminal.				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)		GAGGGAGTCGCCTGCGCAGGG	0.632000														55			17		0	0	0.006122	0	0
AOX1	316	broad.mit.edu	37	2	201499523	201499523	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr2:201499523A>C	uc002uvx.3	+	20	2332	c.2231A>C	c.(2230-2232)cAt>cCt	p.H744P	AOX1_uc010zhf.2_Missense_Mutation_p.H300P|AOX1_uc010fsu.3_Missense_Mutation_p.H110P	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	744					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)	GGTGAAATACATATGGGAGGT	0.428000														28			4		0	0	0.000248	0	0
LIPA	3988	broad.mit.edu	37	10	90982327	90982327	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr10:90982327C>T	uc001kgc.4	-	6	1131	c.841G>A	c.(841-843)Gta>Ata	p.V281I	LIPA_uc001kgb.4_Missense_Mutation_p.V223I|LIPA_uc010qnf.2_Missense_Mutation_p.V84I|LIPA_uc001kga.4_Missense_Mutation_p.V279I|LIPA_uc009xtq.3_Missense_Mutation_p.V279I|LIPA_uc009xtr.1_Intron	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	279					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)		GTTGTATATACATCCACTCTA	0.378000														50			8		0	0	0.000673	0	0
STS	412	broad.mit.edu	37	X	7243499	7243499	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:7243499A>G	uc004cry.4	+	7	1461	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	406					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATATTTCCTACAGTAGCCAA	0.542000									Ichthyosis					72			12		0	0	0.002450	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190845	39190846	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:39190845_39190846GG>CA	uc002hvv.3	-	0	262_263	c.228_229CC>TG	c.(226-231)tgccag>tgTGag	p.Q77E		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	87			Missing (in allele KAP1.9).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGCTGGTCTGGCAGCAGCTTG	0.614000														45			4		0	0	0.004672	0	0
UNC5D	137970	broad.mit.edu	37	8	35606133	35606133	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:35606133A>G	uc003xjr.2	+	11	2183	c.1855A>G	c.(1855-1857)Acc>Gcc	p.T619A	UNC5D_uc003xjs.2_Missense_Mutation_p.T614A|UNC5D_uc003xju.2_Missense_Mutation_p.T195A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	619	ZU5.				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)		CTTTGCATTGACCATCCCGCA	0.507000														91			7		0	0	0.003080	0	0
OR5D18	219438	broad.mit.edu	37	11	55587107	55587107	+	Splice_Site	SNP	T	C	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr11:55587107T>C	uc010rin.2	+	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACAGAAGCGATGCTGCTGACT	0.433000														37			10		0	0	0.001855	0	0
C10orf120	399814	broad.mit.edu	37	10	124457787	124457787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr10:124457787G>A	uc001lgn.3	-	2	502	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	157										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)				CTCTCGTTGTGGCATTTTAAA	0.448000														115			15		0	0	0.002450	0	0
CASP3	836	broad.mit.edu	37	4	185552246	185552246	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:185552246C>T	uc003iwh.3	-	6	812	c.549G>A	c.(547-549)gcG>gcA	p.A183A	CASP3_uc003iwg.3_Intron|CASP3_uc003iwi.3_Silent_p.A183A	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	183					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTTATGACACGCCATGTCAT	0.408000														42			10		0	0	0.001368	0	0
HAUS3	79441	broad.mit.edu	37	4	2242641	2242641	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:2242641T>A	uc003ges.1	-	1	263	c.33A>T	c.(31-33)ttA>ttT	p.L11F	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.L11F|HAUS3_uc003get.1_Missense_Mutation_p.L11F	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	11					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATTTTTTTTAATGTTTCCA	0.343000														57			5		0	0	0.001168	0	0
PLCL2	23228	broad.mit.edu	37	3	17052663	17052663	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:17052663G>A	uc011awc.2	+	2	1897	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	PLCL2_uc011awd.2_Missense_Mutation_p.V483M	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	609					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						TAATGTGCCTGTGAAGCGATT	0.433000														39			6		0	0	0.001168	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891622	5891622	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr18:5891622C>T	uc002kmx.1	-	0	482	c.441G>A	c.(439-441)acG>acA	p.T147T		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	147						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGCCCACGGACGTGGAGGAGG	0.647000														56			11		0	0	0.000978	0	0
NAGA	4668	broad.mit.edu	37	22	42463891	42463891	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr22:42463891G>A	uc003bbw.4	-	2	747	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	68					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCCATGTCCCGCCATCCATCC	0.612000														169			5		0	0	0.001168	0	0
EFNB3	1949	broad.mit.edu	37	17	7612700	7612700	+	Silent	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:7612700C>T	uc002gis.3	+	4	1226	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	277					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GTCTCTGGGCCTGGGGGGTGG	0.711000														26			36		0	0	0.004289	0	0
KLHL11	55175	broad.mit.edu	37	17	40010209	40010209	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:40010209T>A	uc002hyf.1	-	1	1916	c.1910A>T	c.(1909-1911)gAg>gTg	p.E637V		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	637						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)				CCTCTTCCTCTCCGCACAATA	0.453000														80			11		0	0	0.000978	0	0
ZZEF1	23140	broad.mit.edu	37	17	3985756	3985756	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:3985756A>G	uc002fxe.3	-	16	2753	c.2689T>C	c.(2689-2691)Ttc>Ctc	p.F897L	ZZEF1_uc002fxk.1_Missense_Mutation_p.F898L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	897							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						AGTGAACGGAAAGTGAGCTGC	0.413000														27			17		0	0	0.006122	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631008	33631008	+	Silent	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:33631008A>G	uc003jia.1	-	12	2062	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	633	Cys-rich.				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						AGTAGAGCTCACAAGGATGTG	0.493000										HNSCC(64;0.19)				78			6		0	0	0.004482	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400068	72400068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:72400068C>T	uc010iic.3	+	17	2522	c.2405C>T	c.(2404-2406)aCa>aTa	p.T802I	SLC4A4_uc003hfy.3_Missense_Mutation_p.T802I|SLC4A4_uc010iib.3_Missense_Mutation_p.T802I|SLC4A4_uc003hfz.3_Missense_Mutation_p.T802I|SLC4A4_uc003hgc.4_Missense_Mutation_p.T758I|SLC4A4_uc010iid.3_Missense_Mutation_p.T6I	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	802						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.T801T(1)		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)			CAACAAATTACAGCTGTGATT	0.408000														69			24		0	0	0.003954	0	0
PRIM2	5558	broad.mit.edu	37	6	57512590	57512590	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:57512590C>A	uc003pdx.3	+	14	1502	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	473					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.P473H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ACTCCTCAACCCAAACCAAGT	0.393000														331			12		1.61879e-10	3.08341e-10	0.001368	1	0
BTN2A1	11120	broad.mit.edu	37	6	26459768	26459768	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:26459768A>G	uc003nib.2	+	2	390	c.142A>G	c.(142-144)Acg>Gcg	p.T48A	BTN2A1_uc021yni.1_Missense_Mutation_p.T48A|BTN2A1_uc003nic.2_Missense_Mutation_p.T48A|BTN2A1_uc011dko.2_5'UTR	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	48	Ig-like V-type.				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						AGAAAACACTACGTTACGCTG	0.532000														53			4		0	0	0.000248	0	0
CMYA5	202333	broad.mit.edu	37	5	79029420	79029420	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:79029420A>G	uc003kgc.3	+	1	4904	c.4832A>G	c.(4831-4833)cAa>cGa	p.Q1611R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1611						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)		TCAGAAAAACAAGATGTTGCT	0.453000														131			5		0	0	0.000602	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692318	54692318	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:54692318delG	uc002qdq.3	-	2	311	c.45delC	c.(43-45)tccfs	p.S15fs	MBOAT7_uc010erg.3_5'Flank|MBOAT7_uc010yem.2_5'Flank|MBOAT7_uc002qdr.3_Frame_Shift_Del_p.S15fs|MBOAT7_uc002qds.3_5'UTR|MBOAT7_uc010yen.2_Intron|MBOAT7_uc002qdt.4_Frame_Shift_Del_p.S15fs|TSEN34_uc002qdu.3_5'Flank|TSEN34_uc010yeo.2_5'Flank|TSEN34_uc002qdv.3_5'Flank|TSEN34_uc002qdw.3_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	15					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGATGGGGATGGAGATAAGAA	0.557											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	4	---	---	2	---