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
LRRC17	10234	broad.mit.edu	37	7	102574540	102574540	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:102574540C>T	uc003vau.3	+	1	569	c.180C>T	c.(178-180)ctC>ctT	p.L60L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.L60L	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	60					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACACATATCTCCATGAGAAAT	0.522000														28			34		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077217	19077217	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:19077217G>A	uc001mph.3	-	1	821	c.733C>T	c.(733-735)Cta>Tta	p.L245L	MRGPRX2_uc021qer.1_Silent_p.L245L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	245					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CATAATATTAGGAACCACTGA	0.498000														45			25		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96246218	96246218	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:96246218C>T	uc001vmk.3	-	15	2512	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	DZIP1_uc001vmj.3_Missense_Mutation_p.E30K|DZIP1_uc001vml.3_Missense_Mutation_p.E535K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	554					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCCAAGGTTTCCAGTTTCTCC	0.348000														52			31		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680499	44680499	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44680499C>T	uc002oys.3	+	5	1264	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	ZNF226_uc002oyp.3_Missense_Mutation_p.P362S|ZNF226_uc002oyq.3_Missense_Mutation_p.P245S|ZNF226_uc002oyr.3_Missense_Mutation_p.P245S|ZNF226_uc002oyt.3_Missense_Mutation_p.P362S	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGCAGAGAAACCTTATAATTG	0.473000														51			17		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908553	23908553	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:23908553G>A	uc001uon.2	-	9	10051	c.9462C>T	c.(9460-9462)ccC>ccT	p.P3154P	SACS_uc001uoo.2_Silent_p.P3007P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3154					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGATGAGAAGGGGCAATCCCT	0.348000														16			9		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480651	128480651	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:128480651C>T	uc003vnz.4	+	9	1808	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FLNC_uc003voa.4_Silent_p.F533F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	533					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						ATGGTGTGTTCGAGTGCGAGT	0.617000														144			43		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099909	110099909	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110099909G>A	uc003ymz.4	+	0	257	c.168G>A	c.(166-168)atG>atA	p.M56I		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	56						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAAGCACATGAGGACCCCCA	0.507000														50			60		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460033	141460033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:141460033C>T	uc002tvj.1	-	37	7085	c.6113G>A	c.(6112-6114)gGa>gAa	p.G2038E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2038					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2038R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATGCTATTCCCATGCTTAC	0.423000										TSP Lung(27;0.18)				40			29		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717515	13717515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:13717515G>A	uc001rbt.2	-	12	2836	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	886					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.S886S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCGGTGGGGGAGTTCATTAC	0.567000														84			47		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705383	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:50705382_50705383GA>AT	uc002lfe.2	+	8	2085_2086	c.1469_1470GA>AT	c.(1468-1470)gga>gAT	p.G490D	DCC_uc010xdr.1_Missense_Mutation_p.G338D|DCC_uc010dpf.2_Missense_Mutation_p.G145D	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V489L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCACTGTGGGAAACCTGAAGC	0.480000														38			15		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218563	49218563	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:49218563G>A	uc001jgd.3	-	7	1735	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TGGATCCAGCGTTCCTTCTCT	0.547000														26			4		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113739293	113739293	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:113739293T>G	uc001vsu.3	+	18	2320	c.2320T>G	c.(2320-2322)Ttc>Gtc	p.F774V	MCF2L_uc001vsq.3_Missense_Mutation_p.F774V|MCF2L_uc010tjr.2_Missense_Mutation_p.F717V|MCF2L_uc001vsr.3_Missense_Mutation_p.F721V|MCF2L_uc001vss.4_Missense_Mutation_p.F715V|MCF2L_uc010tjs.2_Missense_Mutation_p.F715V|MCF2L_uc001vst.1_Missense_Mutation_p.F679V	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	747	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCCGTTTTTCCAGGTTTG	0.512000														39			23		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886159	30886159	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:30886159G>A	uc003aid.2	-	11	1256	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.P371S|SEC14L4_uc003aif.2_Silent_p.F346F	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	386						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCCTTGTCGGGAAGCAGCACC	0.587000														32			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731312	140731312	+	Silent	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140731312G>T	uc003ljo.2	+	0	1485	c.1485G>T	c.(1483-1485)cgG>cgT	p.R495R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.R495R	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCGGGAGCTGTTGT	0.652000														28			8		0.00448238	0.00449987	1	1	0
GPR110	266977	broad.mit.edu	37	6	46977077	46977077	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:46977077C>T	uc003oyt.3	-	10	2293	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	GPR110_uc011dwl.2_Missense_Mutation_p.M386I	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	698					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAACAGCCATCATCAAATGCT	0.468000														12			17		0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59329508	59329508	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:59329508C>T	uc003xtl.3	+	1	306	c.184C>T	c.(184-186)Caa>Taa	p.Q62*		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	62						Golgi apparatus|cytosol|endoplasmic reticulum|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GACACCACCTCAACGGTAAGT	0.348000														13			12		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474955	78474955	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:78474955C>T	uc002bdh.3	-	6	953	c.747G>A	c.(745-747)atG>atA	p.M249I	ACSBG1_uc010umx.2_Missense_Mutation_p.M7I|ACSBG1_uc010umw.2_Missense_Mutation_p.M245I|ACSBG1_uc010umy.2_Missense_Mutation_p.M142I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	249					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGAATTCCTCCATCTGTAGCC	0.607000														31			15		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39228260	39228260	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:39228260G>A	uc002ojd.1	-	8	1293	c.984C>T	c.(982-984)ttC>ttT	p.F328F	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	328	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AATGGAGGAGGAAGTCCCGCA	0.677000														11			9		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759894	196759894	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:196759894C>T	uc002utj.4	-	29	4803	c.4702G>A	c.(4702-4704)Gat>Aat	p.D1568N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCAGCAAATCATTGTAATCT	0.323000														27			10		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57601437	57601437	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57601437C>T	uc002ely.3	+	7	1278	c.755C>T	c.(754-756)tCc>tTc	p.S252F	GPR114_uc002elx.4_Missense_Mutation_p.S252F|GPR114_uc010vhr.2_Missense_Mutation_p.S252F	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACGTACATCTCCCTCGTGGGC	0.612000														24			11		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43649360	43649360	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:43649360C>T	uc021omk.1	+	3	719	c.573C>T	c.(571-573)agC>agT	p.S191S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.S180S|WDR65_uc001ciq.2_Silent_p.S191S|WDR65_uc001cip.2_Silent_p.S191S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	191										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAAACCAGCTTTCAGAGGG	0.488000														81			30		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297306	207297306	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207297306C>T	uc001hfo.3	+	4	662	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	156	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTGTGAAGTCCAAGATAGAG	0.348000														4			10		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121966865	121966865	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:121966865G>A	uc003idq.1	-	1	655	c.128C>T	c.(127-129)tCg>tTg	p.S43L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	43										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AATTACTGACGAATCATGAAA	0.428000														28			19		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921597	167921597	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:167921597C>T	uc011cjq.1	-	2	346	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D37N|SPOCK3_uc003irj.1_Missense_Mutation_p.D85N|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Missense_Mutation_p.D85N|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.D85N|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	88					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAGCATGGATCCTTAGCTGGA	0.368000														31			19		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17823906	17823907	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:17823906_17823907CC>TT	uc022asj.1	+	18	3284_3285	c.3262_3263CC>TT	c.(3262-3264)cct>TTt	p.P1088F	PCM1_uc003wyi.4_Missense_Mutation_p.P1049F|PCM1_uc011kyh.2_Missense_Mutation_p.P1049F|PCM1_uc003wyj.4_Missense_Mutation_p.P1050F	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1049					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTTGCATCTCCTCAAGTACAC	0.381000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									67			29		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209506	32209506	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:32209506C>T	uc003tco.2	-	2	235	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTTGGCTTCTCCTTGACATTC	0.517000														132			46		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88696903	88696903	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:88696903C>T	uc010voz.2	+	17	2849	c.2649C>T	c.(2647-2649)gaC>gaT	p.D883D	ZC3H18_uc002fky.3_Silent_p.D859D|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_Silent_p.D129D	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	859						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTTCTCGGGACCGGAAGTCAG	0.622000														23			9		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138433924	138433924	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:138433924C>T	uc003vuf.3	-	10	1406	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	ATP6V0A4_uc003vug.3_Missense_Mutation_p.E390K|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.E390K	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	390					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.E390K(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGTTTATCTCCCGGTAGCTG	0.478000														73			96		0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72189461	72189461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:72189461C>T	uc003kck.4	+	17	2221	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	TNPO1_uc011csj.1_Nonsense_Mutation_p.R642*|TNPO1_uc003kci.4_Nonsense_Mutation_p.R684*|TNPO1_uc003kcg.4_Nonsense_Mutation_p.R684*	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	692					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCCAGAAGTTCGACAGAGTTC	0.378000														56			39		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087530	17087530	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:17087530C>T	uc010ock.2	-	1	135	c.135G>A	c.(133-135)gcG>gcA	p.A45A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CGGGCACCACCGCATGTAGCA	0.632000														77			22		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955419	30955419	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:30955419C>T	uc021vfn.1	-	18	1844	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.G600G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	604					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGATGAAGATCCCTCTGAGGA	0.617000														11			6		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246548	164246548	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:164246548C>T	uc003iqm.2	-	2	1527	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.T111T	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	354					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGTGTGCATCGTGGACATGG	0.378000														76			36		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40376728	40376728	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:40376728C>T	uc002omp.4	-	23	11702	c.11694G>A	c.(11692-11694)ggG>ggA	p.G3898G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3898						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCTCAGGTTCCCACCACCCA	0.587000														86			22		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66638963	66638963	+	Missense_Mutation	SNP	G	A	A	rs146885838		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:66638963G>A	uc001sth.3	+	10	1337	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IRAK3_uc010ssy.2_Missense_Mutation_p.R351Q	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	412	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.R412Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CCCTGCCCTCGGAATTTCTCT	0.478000														62			42		0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125548100	125548100	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:125548100G>A	uc001qcs.3	-	1	263	c.145C>T	c.(145-147)Cct>Tct	p.P49S	ACRV1_uc001qcl.3_Intron|ACRV1_uc001qcn.3_Intron|ACRV1_uc001qcr.3_Missense_Mutation_p.P49S	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	49					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCATCAGAAGGGTTTTCAAGT	0.458000														40			27		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020617	19020617	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:19020617G>A	uc002dfp.2	+	1	321	c.191G>A	c.(190-192)gGa>gAa	p.G64E	TMC7_uc010vao.1_Missense_Mutation_p.G64E|TMC7_uc002dfq.3_Missense_Mutation_p.G64E|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	64						integral to membrane		p.S63N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGCAAAGCGGAACTTTGCTA	0.502000														29			17		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447143	17447143	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:17447143A>G	uc002zlw.3	-	5	1243	c.1135T>C	c.(1135-1137)Tcc>Ccc	p.S379P	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	379										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACACCCTGGGAATCATCGCCT	0.592000														20			15		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364179	25364179	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:25364179C>T	uc003xep.1	+	14	2474	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S651F|CDCA2_uc003xer.1_Missense_Mutation_p.S329F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	666					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATAAAAAGTTCCTCATCGCTT	0.313000														43			26		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370111	35370111	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:35370111G>A	uc001byc.3	-	0	874	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	292					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GACCCATCTGGACCCTCCAGG	0.647000														85			26		0	0	1	0	0
NXNL1	115861	broad.mit.edu	37	19	17571379	17571379	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:17571379G>A	uc002ngs.3	-	0	347	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	100	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CAAAGGGCAGGAAAAGCCATT	0.577000														26			18		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970953	151970953	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151970953C>T	uc003wla.3	-	7	1069	c.850_splice	c.e7-1	p.R284_splice		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	284					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATGCACATCGCTGAAAGGGGT	0.393000			N		medulloblastoma									53			4		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155237263	155237263	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:155237263G>A	uc004fnv.1	+	7	1142	c.963G>A	c.(961-963)ggG>ggA	p.G321G	IL9R_uc010nvn.2_Silent_p.G300G|IL9R_uc004fnu.1_Intron	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	321					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TACACAATGGGAACTTCCAGG	0.572000														41			25		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3970484	3970484	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:3970484G>A	uc002fxe.3	-	26	4192	c.4128C>T	c.(4126-4128)tcC>tcT	p.S1376S	ZZEF1_uc002fxi.3_5'Flank|ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1376							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						CATCTGCCAAGGAATAAACCT	0.398000														5			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389344	140389344	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140389344G>A	uc003lii.3	+	3	3451	c.2846G>A	c.(2845-2847)gGa>gAa	p.G949E	PCDHAC2_uc003lha.2_Missense_Mutation_p.G628E|PCDHAC2_uc003lhb.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhd.2_Missense_Mutation_p.G890E|PCDHAC2_uc003lhf.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Missense_Mutation_p.G889E|PCDHAC2_uc003lhl.2_Missense_Mutation_p.G878E|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhn.2_Missense_Mutation_p.G628E|PCDHAC2_uc003lhq.2_Missense_Mutation_p.G879E|PCDHAC2_uc003lhs.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhu.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhw.2_Missense_Mutation_p.G627E|PCDHAC2_uc003lhx.2_Missense_Mutation_p.G890E|PCDHAC2_uc003lia.2_Missense_Mutation_p.G891E|PCDHAC2_uc003lic.2_Missense_Mutation_p.G883E|PCDHAC2_uc003lif.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Missense_Mutation_p.G905E	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	949	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATCCCAGGATCTCCTGCA	0.498000														20			16		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072976	98072976	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:98072976C>T	uc011bgv.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAATTATTTCCCTGTATGAAT	0.433000														153			71		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216072	103216072	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:103216072G>A	uc022ajr.1	-	28	4386	c.4226C>T	c.(4225-4227)tCc>tTc	p.S1409F	RELN_uc022ajq.1_Missense_Mutation_p.S1409F|RELN_uc010liz.3_Missense_Mutation_p.S1409F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1409	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAAGGCTCGGATATGTACAC	0.478000														62			16		0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008704	142008704	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:142008704G>A	uc003vxf.3	+	1	226	c.177G>A	c.(175-177)aaG>aaA	p.K59K	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGACTCTAAGAAATTTCTGA	0.363000														109			24		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118495748	118495748	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:118495748C>T	uc001ptr.2	+	5	807	c.454C>T	c.(454-456)Cct>Tct	p.P152S	PHLDB1_uc010ryh.1_Missense_Mutation_p.P152S|PHLDB1_uc001pts.3_Missense_Mutation_p.P152S|PHLDB1_uc001ptt.3_Missense_Mutation_p.P152S|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	152										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGCCGAGCCCCTGGGCCCCC	0.612000														50			34		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731111	23731111	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:23731111C>T	uc003zpu.3	-	2	517	c.242G>A	c.(241-243)gGa>gAa	p.G81E	ELAVL2_uc003zps.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpt.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpv.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpw.3_Missense_Mutation_p.G81E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	81	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.L80L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAGCCATATCCCAAGCTCTG	0.378000														11			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955504	55955504	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:55955504G>A	uc010qhy.1	-	11	1654	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	PCDH15_uc010qhq.2_Missense_Mutation_p.S420L|PCDH15_uc010qhr.2_Missense_Mutation_p.S415L|PCDH15_uc021pqv.1_Missense_Mutation_p.S415L|PCDH15_uc021pqw.1_Missense_Mutation_p.S420L|PCDH15_uc010qht.2_Missense_Mutation_p.S415L|PCDH15_uc021pqx.1_Missense_Mutation_p.S415L|PCDH15_uc001jjv.1_Missense_Mutation_p.S393L|PCDH15_uc021pqy.1_Missense_Mutation_p.S415L|PCDH15_uc021pqz.1_Missense_Mutation_p.S393L|PCDH15_uc010qhv.1_Missense_Mutation_p.S415L|PCDH15_uc010qhw.1_Missense_Mutation_p.S378L|PCDH15_uc010qhx.1_Missense_Mutation_p.S415L|PCDH15_uc010qhz.1_Missense_Mutation_p.S415L|PCDH15_uc010qia.1_Missense_Mutation_p.S393L|PCDH15_uc001jju.1_Missense_Mutation_p.S415L|PCDH15_uc010qib.1_Missense_Mutation_p.S393L|PCDH15_uc001jjw.3_Missense_Mutation_p.S415L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	415	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGACTGTCCGAAATGGTTGC	0.373000										HNSCC(58;0.16)				53			24		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097854	102097854	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:102097854C>T	uc003uzl.3	-	2	934	c.896G>A	c.(895-897)gGa>gAa	p.G299E	ALKBH4_uc003uzm.3_Missense_Mutation_p.G226E	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	299						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CACGGGTCTTCCCTGGAAGGA	0.607000														27			66		0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402566	20402566	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:20402566G>A	uc002rdo.1	-	4	1193	c.894C>T	c.(892-894)gcC>gcT	p.A298A	SDC1_uc002rdp.1_Silent_p.A298A|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	298					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTTCTGGTAGGCCCCGCCGT	0.597000														101			54		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86259046	86259047	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:86259046_86259047CC>TT	uc002blv.1	+	19	5797_5798	c.5627_5628CC>TT	c.(5626-5628)tcc>tTT	p.S1876F	AKAP13_uc002blu.1_Missense_Mutation_p.S1880F|AKAP13_uc010bnf.1_Missense_Mutation_p.S497F|AKAP13_uc002blw.1_Missense_Mutation_p.S343F|AKAP13_uc002blx.1_Missense_Mutation_p.S121F	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1876					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTCCTCGGTCCGCAGTCCTCC	0.530000														45			20		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228346	111228346	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111228346C>T	uc001plg.4	-	3	535	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	94					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TGCAGGGTGGCCGGGGTGGGC	0.627000			T	BCL6	NHL									16			21		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201287835	201287835	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:201287835C>T	uc001gwd.3	+	5	1395	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	PKP1_uc001gwe.3_Missense_Mutation_p.P382S|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	382					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CGTCATCATTCCCTTCTCTGG	0.587000														21			6		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292979	143292979	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:143292979G>A	uc003evn.3	-	7	1160	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	317					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.L318fs*45(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGAAAGCAGGAAAAACAGGC	0.498000														31			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9071592G>A	uc002mkp.3	-	2	16058	c.15854C>T	c.(15853-15855)cCc>cTc	p.P5285L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(3)|p.P918H(1)|p.P5285P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517000														47			31		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166929999	166929999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:166929999C>T	uc002udo.4	-	2	360	c.133G>A	c.(133-135)Gac>Aac	p.D45N	SCN1A_uc010fpk.3_Missense_Mutation_p.D45N|SCN1A_uc021vsb.1_Missense_Mutation_p.D45N	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	45						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATTTTCGTCGTCATCTTTT	0.443000														131			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8966742	8966742	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8966742C>T	uc002mkp.3	-	80	43415	c.43211G>A	c.(43210-43212)aGa>aAa	p.R14404K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R1204K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14502				Missing (in Ref. 3; AAK74120).	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						GATGGCAACTCTGTCTACTCT	0.557000														7			4		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890692	229890692	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:229890692C>T	uc002vpr.4	-	2	447	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PID1_uc002vps.4_Missense_Mutation_p.E135K|PID1_uc002vpt.4_Missense_Mutation_p.E104K|PID1_uc002vpu.4_Missense_Mutation_p.E55K	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	137	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCCGGATTTCCAGGAGGGCA	0.557000														25			37		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194646	36194646	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:36194646C>T	uc003tfa.3	+	1	1353	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	238					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCAGGGGGGCCCACCCAGATT	0.662000														50			13		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844564	55844564	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:55844564C>T	uc002eim.3	-	10	1288	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	CES1_uc002eil.3_Missense_Mutation_p.E395K|CES1_uc002ein.3_Missense_Mutation_p.E393K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	394					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGAATCAGTTCCTTAGCAATG	0.483000														93			45		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784568	130784568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:130784568C>T	uc001qgk.4	-	0	1815	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E423K|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	423					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCAGCCTCTGCTCCTTCA	0.552000														29			20		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205554120	205554120	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:205554120G>A	uc001hcv.4	+	5	1061	c.975_splice	c.e5+1	p.T325_splice	MFSD4_uc010prk.2_Splice_Site_p.T238_splice|MFSD4_uc010prl.2_Splice_Site|MFSD4_uc010prm.2_Splice_Site_p.T270_splice	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	325					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGGGTTGACGGTGAGCCTGCC	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			22		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:15323347T>C	uc002ktd.1	-	2		c.112A>G								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		CCAATAAAAGTGGTGTGTGGC	0.303000														5			3		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75130447	75130447	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:75130447A>G	uc001xqb.3	-	19	2953	c.2448T>C	c.(2446-2448)ggT>ggC	p.G816G		NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	816	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AGCCCTCGCAACCCTCGCTGA	0.547000														39			37		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766297	60766297	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:60766297G>A	uc002jad.3	+	22	3712	c.3310G>A	c.(3310-3312)Ggc>Agc	p.G1104S	MRC2_uc002jae.3_Missense_Mutation_p.G175S|MRC2_uc002jaf.3_Missense_Mutation_p.M49I	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1104	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAGACCCATGGCTTCATCTG	0.662000														36			13		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103286311	103286311	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103286311C>T	uc001vpi.4	+	10	1359	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	419					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGACGGGGCCCTTGGTGTG	0.468000														57			14		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548746	28548746	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:28548746C>T	uc002hey.4	-	2	775	c.231G>A	c.(229-231)ggG>ggA	p.G77G		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	77					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCTCCCGTTCCCCTTGATGAA	0.562000														76			50		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256130	58256130	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:58256130G>A	uc002aex.3	-	8	1312	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R326C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R309C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R318C|ALDH1A2_uc002aew.3_Missense_Mutation_p.R251C	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	347					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R347H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCCACTACGCGCCTCTTGGCC	0.527000														61			34		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391419	23391419	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:23391419G>A	uc002dln.3	+	11	1647	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	491					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCAGGAAGGGAATTGTCAA	0.488000														59			15		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569486	99569486	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:99569486C>T	uc003dtm.3	-	4	1497	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R345Q|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.R105Q|FILIP1L_uc003dtn.3_Missense_Mutation_p.R105Q|FILIP1L_uc021xbr.1_Missense_Mutation_p.R105Q|FILIP1L_uc003dtp.1_Missense_Mutation_p.R105Q	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	345						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTGCTTTTCGTAAAGACCT	0.443000														103			51		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766864	57766864	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:57766864G>A	uc002yan.3	+	0	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	264						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTGAGGACCGAAGCTGCTCC	0.657000														64			31		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34884512	34884512	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:34884512G>A	uc003teh.1	+	6	890	c.762G>A	c.(760-762)ggG>ggA	p.G254G	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.G254G|NPSR1_uc010kwt.1_Silent_p.G101G|NPSR1_uc010kwu.1_Silent_p.G44G|NPSR1_uc010kwv.1_Silent_p.G188G|NPSR1_uc003tei.1_Silent_p.G254G|NPSR1_uc010kww.1_Silent_p.G243G|NPSR1_uc011kar.1_Silent_p.G188G	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACAGATGGGAAACTGTGCA	0.403000														37			38		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272896	28272896	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:28272896G>A	uc009xky.3	-	5	793	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.S232L|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	232							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACATCCATTTGAAAATTCATA	0.403000														32			16		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154515250	154515250	+	Silent	SNP	G	A	A	rs141912752		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:154515250G>A	uc009wow.3	+	7	1294	c.456G>A	c.(454-456)gaG>gaA	p.E152E	TDRD10_uc001ffd.3_Silent_p.E152E|TDRD10_uc001ffe.3_Silent_p.E73E	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	152							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTGTGTGAGACAGAGAAAC	0.493000														25			18		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641356	23641356	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:23641356G>A	uc002dlx.1	-	4	2319	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	707					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTATTTAAAGGAGTATAAAGT	0.458000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						48			34		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747333	79747333	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:79747333G>A	uc001sys.3	+	9	1533	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	SYT1_uc001syt.3_Missense_Mutation_p.G288S|SYT1_uc001syu.3_Missense_Mutation_p.G285S|SYT1_uc001syv.3_Missense_Mutation_p.G288S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	288	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCTACTGCTGGTAAGCTGAC	0.388000														82			57		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41749994	41749994	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41749994C>T	uc001zny.3	+	3	594	c.582C>T	c.(580-582)gcC>gcT	p.A194A		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAGACAGGGCCCGTCTGGAAC	0.478000														89			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222709	140222709	+	Silent	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140222709G>T	uc003lhs.2	+	0	1803	c.1803G>T	c.(1801-1803)tcG>tcT	p.S601S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.S601S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	614	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCGACTCGGGCTACAACG	0.687000														39			8		7.48243e-07	7.54845e-07	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140262444	140262444	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140262444G>A	uc003lif.2	+	0	591	c.591G>A	c.(589-591)agG>agA	p.R197R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R197R|PCDHAC2_uc003lid.3_Silent_p.R197R	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTACTGAGGAAAACACTGG	0.443000														20			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188116	140188116	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140188116G>A	uc003lhi.2	+	0	1445	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.V448V|PCDHAC2_uc011daa.2_Silent_p.V448V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	462	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTGATGTGAACGACAACG	0.642000														52			5		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999824	72999824	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72999824T>G	uc002lly.3	+	1	2890	c.2327T>G	c.(2326-2328)gTg>gGg	p.V776G	TSHZ1_uc021uln.1_Missense_Mutation_p.V776G	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	821						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCCGCTGGTGTCCAGCGTG	0.582000														35			20		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022891	18022891	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:18022891C>T	uc021trm.1	+	0	996	c.777C>T	c.(775-777)ccC>ccT	p.P259P	MYO15A_uc021trl.1_Silent_p.P259P	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	259	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCAGGAACCCTACCTGGCGG	0.652000														14			17		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47421349	47421349	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:47421349C>T	uc002leb.2	-	21	3295	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	MYO5B_uc002lea.2_Missense_Mutation_p.E144K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1003					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGGCGTCCTCCAAGATCTTG	0.652000														47			31		0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101182352	101182352	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:101182352G>A	uc001voo.3	+	24	2225	c.2119_splice	c.e24-1	p.V707_splice	PCCA_uc010aga.3_Splice_Site_p.V681_splice|PCCA_uc010tiz.2_Splice_Site_p.V660_splice	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	707	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAATTCAAGGTGAAATCTGT	0.453000														26			9		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31327763	31327763	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31327763C>T	uc021sia.1	-	19	3051	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	TRPM1_uc010azy.3_Missense_Mutation_p.E781K|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.E896K|TRPM1_uc001zfm.3_Missense_Mutation_p.E874K	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	874					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGTATCTTCTCTAACGCCAGG	0.537000														37			22		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113701610	113701610	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:113701610G>A	uc001poh.3	-	8	922	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	USP28_uc001pog.3_5'Flank|USP28_uc010rwy.2_Silent_p.L172L|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Silent_p.L297L|USP28_uc010rwz.1_3'UTR	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	297				VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039).	DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTCAGTCAGGAAAGTACCA	0.393000														47			22		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86266551	86266551	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:86266551G>A	uc002blv.1	+	26	6915	c.6745_splice	c.e26+1	p.E2249_splice	AKAP13_uc002blu.1_Splice_Site_p.E2253_splice|AKAP13_uc010bnf.1_Splice_Site_p.E870_splice|AKAP13_uc002blw.1_Splice_Site_p.E714_splice|AKAP13_uc002blx.1_Splice_Site_p.E494_splice	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2249	Interaction with ESR1.|PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGTTGAAAGGTAAGGCTTG	0.423000														25			18		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220352966	220352966	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:220352966G>A	uc010fwg.3	+	31	7792	c.7792G>A	c.(7792-7794)Ggg>Agg	p.G2598R		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2598	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCTGGAGGGGGAGGCAGC	0.607000														54			26		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096288	167096288	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:167096288C>T	uc001geb.1	+	4	1936	c.1920C>T	c.(1918-1920)agC>agT	p.S640S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	640					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGAGGAGAGCCAGTCTATGG	0.642000														19			7		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9914760	9914760	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:9914760C>T	uc004csu.1	+	9	4724	c.4634C>T	c.(4633-4635)gCc>gTc	p.A1545V	SHROOM2_uc004csv.2_Missense_Mutation_p.A379V|SHROOM2_uc011mic.1_Missense_Mutation_p.A380V|SHROOM2_uc004csw.1_Missense_Mutation_p.A380V	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1545	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACGAGGACGCCAAGGAGCTC	0.557000														2			3		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881544	33881544	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:33881544G>A	uc003jia.1	-	1	332	c.169C>T	c.(169-171)Cca>Tca	p.P57S	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P57S|ADAMTS12_uc003jib.1_Missense_Mutation_p.P57S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	57					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						ACTCGGACTGGACCCACCACG	0.488000										HNSCC(64;0.19)				96			48		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809912	5809912	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5809912G>A	uc010qzo.2	-	0	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACATAAGGCCGAAGTTCCCTG	0.463000														30			17		0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38244584	38244584	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:38244584C>A	uc021twy.1	+	7	1369	c.813C>A	c.(811-813)agC>agA	p.S271R	THRA_uc010cwp.1_Missense_Mutation_p.S271R|THRA_uc002htv.3_Missense_Mutation_p.S271R|THRA_uc002htw.3_Missense_Mutation_p.S271R|THRA_uc002htx.3_Missense_Mutation_p.S271R	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	271	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ACCCTGAGAGCGACACCCTGA	0.622000														50			28		2.4375e-19	2.47844e-19	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72286026	72286026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:72286026G>A	uc011kej.2	-	2	329	c.170C>T	c.(169-171)tCc>tTc	p.S57F	TYW1B_uc011keh.1_Missense_Mutation_p.S57F|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	57	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CAGATCCAGGGACGTAACTGC	0.368000														32			32		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001079	142001079	+	Silent	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:142001079C>A	uc011kro.1	+	1	216	c.171C>A	c.(169-171)atC>atA	p.I57I	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGACAAATCTTGGGGCAGA	0.423000														23			6		3.59834e-05	3.61944e-05	1	1	0
C4BPA	722	broad.mit.edu	37	1	207317945	207317945	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207317945C>T	uc001hfo.3	+	11	1871	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	559					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCAGTGTCTCCCAAACCCAG	0.468000														37			9		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	311939	311939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:311939G>A	uc003msx.3	+	2	554	c.115G>A	c.(115-117)Gat>Aat	p.D39N	DUSP22_uc011dhn.1_Missense_Mutation_p.D39N|DUSP22_uc003msy.1_5'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	39					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTCTGTCCACGATAGTGCCAG	0.493000														58			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831470	61831470	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:61831470C>T	uc001jky.3	-	36	9507	c.9169G>A	c.(9169-9171)Gga>Aga	p.G3057R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3057					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATTCCTTTCCTGGGCTAAAC	0.468000														65			74		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68934432	68934432	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68934432G>A	uc002ewi.4	+	7	1485	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	491						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TTACTAAGCAGAGTGTGTCTC	0.363000														75			17		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156821440	156821440	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:156821440C>T	uc010pht.2	-	3	1381	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.G361D	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	361					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTACTGACAGCCCTGGCGAAG	0.562000														23			15		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137644476	137644476	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:137644476G>A	uc004cfe.3	+	13	2086	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	568	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCTCACAGGGAGACCTGGCC	0.622000														5			10		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200740	132200740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:132200740C>T	uc002tst.2	-	0	1728	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CTGAACCTTCCCAAGCAGCTG	0.642000														14			11		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634601	113634601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:113634601C>T	uc003eaq.4	+	9	1082	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.H169Y|GRAMD1C_uc003eas.3_Missense_Mutation_p.H131Y|GRAMD1C_uc003eat.3_5'UTR	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	336						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCGTATTTTTCATATCAGTGC	0.338000														41			27		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88452727	88452727	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:88452727A>G	uc001tar.3	-	48	7060	c.6716T>C	c.(6715-6717)gTt>gCt	p.V2239A	CEP290_uc001taq.3_Missense_Mutation_p.V1299A|BC033323_uc001tas.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2239					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTAGTTGAACTGTCATCTT	0.368000														24			9		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57398298	57398298	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:57398298G>A	uc003pdx.3	+	9	1088	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	334					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			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)		TTTATCAAAGGAAAGATGGAT	0.343000														87			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744239	140744239	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140744239G>A	uc003lju.2	+	0	342	c.342G>A	c.(340-342)atG>atA	p.M114I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.M114I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAAAATGAAAATTTATG	0.448000														13			14		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894021	23894021	+	Missense_Mutation	SNP	G	A	A	rs145417343		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:23894021G>A	uc001wjx.3	-	21	2742	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	879					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGCAGCAGGGACACCATCTT	0.592000														13			18		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754895	94754895	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94754895C>T	uc001yct.3	-	3	1185	c.719_splice	c.e3-1	p.G240_splice	SERPINA10_uc001ycu.4_Splice_Site_p.G240_splice	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	240					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCAACCATTTCCCTGAACAAG	0.448000														17			22		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	861336	861336	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:861336C>T	uc001abw.1	+	1	95	c.15C>T	c.(13-15)atC>atT	p.I5I	SAMD11_uc001abv.1_Silent_p.I5I	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	5						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCAAGGGGATCCTGCAGGTGC	0.647000														49			44		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919776	66919776	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:66919776A>G	uc021tjw.1	+	1	1590	c.1590_splice	c.e1+1	p.*530_splice	PDP2_uc002eqk.2_Silent_p.*530*	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	0					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAGGGGGGTTAAGAATCTCCC	0.398000														33			22		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:139144923G>A	uc003yuy.3	-	19	4305	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1378								p.L1377L(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)				205			107		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665275	157665275	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:157665275G>A	uc001fqz.4	-	7	1547	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.H145Y|FCRL3_uc001frb.3_Missense_Mutation_p.H419Y|FCRL3_uc001frc.1_Missense_Mutation_p.H419Y	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	419	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACATCCTCATGATAAAATCGG	0.582000														74			36		0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25172472	25172473	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:25172472_25172473CC>TT	uc002dnx.1	+	5	674_675	c.516_517CC>TT	c.(514-519)ctccga>ctTTga	p.R173*	LCMT1_uc002dny.1_Intron	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	173							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCAGATCTCCGAGACCTGTC	0.351000														18			6		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248343781C>T	uc010pzf.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000														143			157		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680644	37680644	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:37680644G>A	uc002ofq.3	-	3	463	c.211C>T	c.(211-213)Cct>Tct	p.P71S	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGGTTTAGGAACTTGATAC	0.478000														37			19		0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101980384	101980384	+	Silent	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:101980384T>C	uc001kqp.3	-	4	490	c.435A>G	c.(433-435)ctA>ctG	p.L145L		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	145	Protein kinase.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TTTCAGGTTTTAGATCTCGAT	0.308000														24			23		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188644	32188644	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32188644G>A	uc003obb.3	-	4	950	c.811C>T	c.(811-813)Cca>Tca	p.P271S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P271S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	271	EGF-like 6.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACAGTCTGGGCCTATGAAA	0.612000														126			79		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118355575	118355575	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:118355575A>G	uc001pta.3	+	10	4242	c.4219_splice	c.e10-2	p.E1407_splice	MLL_uc001ptb.3_Splice_Site_p.E1407_splice|MLL_uc001pte.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1407		Breakpoint for translocation to form MLL- AFF4 fusion protein.			apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCTCTCCACAGGAGGATTGT	0.408000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									29			24		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427419	27427419	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27427419G>A	uc010eyv.1	-	9	1237	c.915C>T	c.(913-915)ctC>ctT	p.L305L	SLC5A6_uc002rjd.3_Silent_p.L305L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	305					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGCCCACGCAGAGGGACACCT	0.587000														65			17		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62926419	62926419	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:62926419G>A	uc001sre.3	+	11	1993	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	MON2_uc010ssn.2_Silent_p.Q534Q|MON2_uc009zqj.3_Silent_p.Q534Q|MON2_uc010ssl.2_Silent_p.Q462Q|MON2_uc010ssm.2_Silent_p.Q534Q|MON2_uc001srf.3_Silent_p.Q297Q	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	534					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGGATTTACAGTCAACATCAG	0.348000														32			13		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74009327	74009327	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:74009327C>T	uc010rrj.2	-	3	690	c.647G>A	c.(646-648)gGa>gAa	p.G216E	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G216E			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	216						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTTCCACTCTCCGTAAGATCC	0.493000														87			42		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056989	53056989	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53056989C>T	uc010epq.1	+	4	997	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGCAATACCTTGCATGCCA	0.398000														76			37		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598668	151598668	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:151598668C>T	uc003ezf.2	+	2	442	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	113						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CATTCTCTTTCTCACTTTTAT	0.393000														30			24		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514357	113514357	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:113514357C>T	uc002tie.2	-	3	670	c.591G>A	c.(589-591)agG>agA	p.R197R	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.R32R|CKAP2L_uc010yxq.1_Silent_p.R32R	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	197						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GATCTGGCTTCCTCTCAGGTT	0.338000														31			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074987	9074987	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9074987C>T	uc002mkp.3	-	2	12663	c.12459G>A	c.(12457-12459)gtG>gtA	p.V4153V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4155	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTTCTTCCACAGAGGGAG	0.498000														70			34		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	A	A	rs148140727		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140558546G>A	uc011dai.2	+	0	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(4)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000														112			33		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227594	35227594	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:35227594G>A	uc001bxw.4	+	0	739	c.739G>A	c.(739-741)Gat>Aat	p.D247N	GJB4_uc001bxv.1_Missense_Mutation_p.D247N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	247					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCACCCTGAGGATGGGAACTC	0.617000														25			25		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841646	8841646	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8841646C>T	uc010xkg.2	+	0	256	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCAGACTTTCTGCGGGGAGA	0.562000														45			42		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863803	108863803	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:108863803G>A	uc010ywo.2	+	0	153	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	51						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATCTTATTCTGGCAACTTACC	0.333000														38			25		0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866655	48866655	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48866655G>A	uc010slt.2	+	0	208	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	70										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TAAGAAGCTTGAACTAAGCAG	0.368000														36			17		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062366	194062366	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:194062366G>A	uc003fts.3	-	1	1156	c.1066C>T	c.(1066-1068)Ctc>Ttc	p.L356F	CPN2_uc021xix.1_Missense_Mutation_p.L356F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	356					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TTCTGGAAGAGGGCTGGGTGC	0.562000														51			17		0	0	1	0	0
AC2	0	broad.mit.edu	37	1	151992726	151992726	+	RNA	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:151992726C>T	uc001ezm.1	+	8		c.2391C>T								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		ATGAAGAATTCAAAGACCTCA	0.532000														53			25		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159682681	159682681	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:159682681G>A	uc003lyb.1	-	5	1014	c.762C>T	c.(760-762)gtC>gtT	p.V254V	CCNJL_uc011dee.1_Silent_p.V206V|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.V206V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	254						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCGCAGCGACCACAGAAG	0.552000														48			7		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435343	7435343	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:7435343C>T	uc011bwj.2	-	0	1358	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	422	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CCCTTGAAGGCCACCAGGATG	0.587000														13			7		0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43214795	43214795	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43214795C>T	uc002iid.2	+	5	820	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ACBD4_uc010wjj.2_Missense_Mutation_p.P159L|ACBD4_uc002iie.3_Missense_Mutation_p.P159L|ACBD4_uc002iif.3_Missense_Mutation_p.P159L|ACBD4_uc002iic.3_Missense_Mutation_p.P159L|ACBD4_uc010dae.3_Missense_Mutation_p.P81L	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	159							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCTGCCTCCCCAAGGAACCG	0.627000														21			12		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875615	42875615	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:42875615A>C	uc001uys.2	+	7	2908	c.2733A>C	c.(2731-2733)ttA>ttC	p.L911F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	911					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTAAATCTTTAAAGGAGAAAA	0.378000														22			13		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791266	8791266	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:8791266C>T	uc003srv.3	+	2	1594	c.683C>T	c.(682-684)tCc>tTc	p.S228F	NXPH1_uc011jxh.2_Missense_Mutation_p.S111F	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	228	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTCATGTATCCTGGCTCTGC	0.413000														22			20		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32312901	32312901	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:32312901G>A	uc003jhq.3	-	0	214	c.44C>T	c.(43-45)gCc>gTc	p.A15V	MTMR12_uc010iuk.3_Missense_Mutation_p.A15V|MTMR12_uc010iul.3_Missense_Mutation_p.A15V	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	15						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGGCTTGGGGGCCTTGGTGCC	0.771000														43			18		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228786205	228786205	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:228786205C>T	uc002vpn.1	+	11	1220	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	WDR69_uc010zlw.1_Nonsense_Mutation_p.Q366*|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	381										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCAGTGCCTCCAGGTTCTTGA	0.448000														33			25		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170051274	170051274	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:170051274G>A	uc003isa.1	-	5	1437	c.1102C>T	c.(1102-1104)Ccg>Tcg	p.P368S	SH3RF1_uc010irc.1_Missense_Mutation_p.P90L	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	368						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTGGGGGCGGGGTCACAATT	0.438000														22			6		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114284612	114284612	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:114284612G>A	uc003ibe.4	+	39	10975	c.10875G>A	c.(10873-10875)ggG>ggA	p.G3625G	ANK2_uc003ibd.4_Silent_p.G1531G|ANK2_uc003ibf.4_Silent_p.G1540G|ANK2_uc011cgc.2_Silent_p.G716G|ANK2_uc003ibg.4_Silent_p.G524G|ANK2_uc003ibh.4_Silent_p.G214G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3592					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGGGATGGGAAACATGCTA	0.408000														34			25		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124821308	124821309	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:124821308_124821309GG>AA	uc021rga.1	-	37	6243_6244	c.6126_6127CC>TT	c.(6124-6129)ctccgt>ctTTgt	p.R2043C	NCOR2_uc021rgb.1_Missense_Mutation_p.R2027C|NCOR2_uc010tbb.2_Missense_Mutation_p.R2036C|NCOR2_uc010tbc.2_Missense_Mutation_p.R2026C|NCOR2_uc021rgc.1_Missense_Mutation_p.R2026C|NCOR2_uc010tax.2_Missense_Mutation_p.R157C	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2047					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCAGAGAACGGAGTTCCAGTT	0.599000														60			17		0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85850842	85850842	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:85850842C>T	uc002sqe.3	+	3	543	c.507C>T	c.(505-507)acC>acT	p.T169T	USP39_uc002sqb.3_5'UTR|USP39_uc010ysu.2_Silent_p.T91T|USP39_uc010ysv.2_Silent_p.T66T|USP39_uc010fgn.1_Silent_p.T169T|USP39_uc002sqg.3_Silent_p.T169T|USP39_uc010fgo.3_Silent_p.T169T	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	169					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACCTCCACACCCTCAAGTTTT	0.478000														132			107		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46628087	46628087	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:46628087G>A	uc003bhb.1	+	5	1233	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	PPARA_uc003bgw.1_Silent_p.L370L|PPARA_uc003bgx.1_Silent_p.L370L|PPARA_uc010hab.1_Silent_p.L370L|PPARA_uc010hac.1_Silent_p.L167L	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	370	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CACTGGAACTGGATGACAGTG	0.428000														79			55		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574587	22574587	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:22574587G>A	uc002nqt.2	-	3	1572	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H484Y(3)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTACCTTA	0.378000														45			12		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822943	31822943	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31822943C>T	uc001zfq.3	-	3	712	c.619G>A	c.(619-621)Gat>Aat	p.D207N	OTUD7A_uc001zfr.3_Missense_Mutation_p.D207N	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	207	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGTTCCCATCCCCTGTTGTG	0.537000														46			17		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132216	116132216	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:116132216C>T	uc004bhg.4	+	5	1051	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	335	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCAGGAGTTTCGTTTCTCACA	0.617000														39			19		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37747572	37747572	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37747572T>C	uc002yvi.3	+	16	2874	c.2798T>C	c.(2797-2799)aTg>aCg	p.M933T		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	933					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding	p.Q932K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTGAACAAATGAGTGAAATC	0.308000														25			17		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708970	96708970	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:96708970G>A	uc001kka.4	+	4	773	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C9_uc009xut.3_Missense_Mutation_p.E250K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	250					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAAAGTAAAAGAACACCAAGA	0.313000														34			8		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820744	55820744	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:55820744C>T	uc010spm.2	+	0	707	c.707C>T	c.(706-708)tCa>tTa	p.S236L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236P(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAAGCCTTTTCAACCTGCTCC	0.373000														26			12		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131624237	131624237	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:131624237G>A	uc011blq.2	-	1	215	c.105C>T	c.(103-105)atC>atT	p.I35I	CPNE4_uc003eok.3_Silent_p.I17I|CPNE4_uc003eol.3_Silent_p.I35I|CPNE4_uc003eom.3_Silent_p.I17I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	17	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GGCTGTTAAAGATTCCCAGTG	0.458000														25			16		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397745	76397745	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:76397745C>T	uc001dhe.2	-	0	372	c.232G>A	c.(232-234)Gga>Aga	p.G78R	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	78					intracellular signal transduction			p.S77T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AAACGGTATCCTGATTTTTCC	0.378000														15			60		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113197561	113197561	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:113197561C>T	uc010mtz.3	-	28	5185	c.4848G>A	c.(4846-4848)gtG>gtA	p.V1616V		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1616	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACTTTCCCCACAATTCCTG	0.438000														41			38		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34487325	34487325	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:34487325G>A	uc002xek.1	+	9	1427	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	PHF20_uc002xei.1_Missense_Mutation_p.G439E|PHF20_uc010gfo.1_Missense_Mutation_p.G439E|PHF20_uc002xej.1_Missense_Mutation_p.G323E	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GATGATTTTGGGTCATCTAAT	0.333000														15			10		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517118	123517118	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:123517118C>T	uc003vlc.3	+	4	1993	c.1355C>T	c.(1354-1356)gCt>gTt	p.A452V	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	452					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATAAAGACGGCTGATGGCTGC	0.433000														112			28		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99689498	99689498	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:99689498C>T	uc002szg.4	-	10	1549	c.921G>A	c.(919-921)gaG>gaA	p.E307E	TSGA10_uc002szh.4_Silent_p.E307E|TSGA10_uc002szi.4_Silent_p.E307E|TSGA10_uc010fin.1_Silent_p.E307E|TSGA10_uc010yvn.1_Intron	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	307					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CCTGTTCCATCTCAGCAATGA	0.333000														56			42		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156452	111156452	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111156452C>T	uc001plc.3	+	3	531	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	128										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTGCTGACCTTGCCACCCA	0.637000														53			38		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78184223	78184223	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:78184223G>A	uc001vki.3	+	21	1489	c.1319G>A	c.(1318-1320)aGa>aAa	p.R440K	SCEL_uc010thx.2_Missense_Mutation_p.R398K|SCEL_uc001vkj.3_Missense_Mutation_p.R420K	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	440	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTCCTGAAAGAAACAGAACT	0.378000														27			17		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32803453	32803454	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32803453_32803454GG>AA	uc011dqf.1	-	3	827_828	c.705_706CC>TT	c.(703-708)cgccag>cgTTag	p.Q236*	TAP2_uc003ocb.1_Nonsense_Mutation_p.Q236*|TAP2_uc003occ.3_Nonsense_Mutation_p.Q236*|TAP2_uc003ocd.3_Nonsense_Mutation_p.Q236*	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	236	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										CCGAGGTCCTGGCGCAGCAGGG	0.589000														54			21		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423178	56423178	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56423178C>T	uc010ygg.2	-	4	2030	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	669							ATP binding	p.E669K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGAGTTCTTCGTCCTCCAAA	0.408000														48			31		0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45410043	45410043	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:45410043T>G	uc001zuo.3	+	5	1180	c.899T>G	c.(898-900)cTc>cGc	p.L300R	DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Intron|DUOXA1_uc001zup.3_Intron|DUOXA1_uc010bec.3_Intron	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	300					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTCTTATCCTCGGCGACCCA	0.597000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			41		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192482	132192482	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:132192482C>T	uc003vra.4	-	1	1200	c.971G>A	c.(970-972)aGg>aAg	p.R324K	PLXNA4_uc003vrc.2_Missense_Mutation_p.R324K|PLXNA4_uc003vrb.3_Missense_Mutation_p.R324K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	324	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAAGGGTCCTGCCAAGCAC	0.592000														55			18		0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123663826	123663826	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:123663826T>C	uc011bjx.2	-	8	1448	c.1357A>G	c.(1357-1359)Att>Gtt	p.I453V	CCDC14_uc003egv.4_Missense_Mutation_p.I94V|CCDC14_uc003egx.4_Missense_Mutation_p.I253V|CCDC14_uc010hrt.3_Missense_Mutation_p.I412V|CCDC14_uc003egy.4_Missense_Mutation_p.I253V|CCDC14_uc003egz.2_Missense_Mutation_p.I253V	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	453						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AACCTCTGAATTTCTGAATCC	0.318000														23			11		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104122764	104122764	+	Silent	SNP	C	T	T	rs146494560		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104122764C>T	uc001tjw.3	+	47	5259	c.5073C>T	c.(5071-5073)tcC>tcT	p.S1691S	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1691	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAGTCATCTCCGTCTCTCAGG	0.507000														38			18		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252457	46252457	+	Silent	SNP	C	T	T	rs145736784		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46252457C>T	uc011bzc.1	-	9	1651	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	GABRA2_uc003gxc.3_Silent_p.K408K|GABRA2_uc010igc.2_Silent_p.K408K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	408					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	p.K408N(2)|p.K408K(1)|p.S413I(1)|p.N412S(1)		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)	TGAAAGTTTTCTTTGCTTCAG	0.398000														131			80		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136831	40136831	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:40136831C>T	uc021qgf.1	-	0	1012	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	LRRC4C_uc001mxc.1_Missense_Mutation_p.G334R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G334R|LRRC4C_uc001mxa.1_Missense_Mutation_p.G338R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G334R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	338	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.G338G(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGTACCTCCCCTTTAGATTG	0.527000														27			16		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149519472	149519473	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:149519472_149519473AC>TT	uc010zbt.2	+	4	815_816	c.788_789AC>TT	c.(787-789)cac>cTT	p.H263L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	263					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATTATTGCACTTAACCTTAG	0.322000														14			11		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52681552	52681552	+	Silent	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:52681552T>C	uc002aby.2	-	12	1795	c.1551A>G	c.(1549-1551)aaA>aaG	p.K517K	MYO5A_uc002abx.3_Silent_p.K517K|MYO5A_uc010uge.1_Silent_p.K386K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	517	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATCTGTGCCTTTAGGCATCT	0.353000														24			16		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420137	56420137	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:56420137C>T	uc002rzn.3	+	1	1304	c.802C>T	c.(802-804)Cca>Tca	p.P268S	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	268	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTGGAACCCCAGATCGCCC	0.652000														33			22		0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879379	75879379	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:75879379C>G	uc002snl.3	+	2	358	c.333C>G	c.(331-333)ttC>ttG	p.F111L		NM_014763	NP_055578	P49406	RM19_HUMAN	Homo sapiens mitochondrial ribosomal protein L19 (MRPL19), nuclear gene encoding mitochondrial protein, mRNA.	111					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTCCAGAGTTCTATGTTGGTC	0.333000														48			23		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712008	94712008	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94712008G>A	uc001ycs.1	+	13	1582	c.1428_splice	c.e13+1	p.K476_splice		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	476						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGAAAATAAGGTAAACTTCAT	0.338000														21			31		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964841	6964841	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:6964841G>A	uc001mey.3	+	5	1269	c.681G>A	c.(679-681)atG>atA	p.M227I	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.M227I	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	227	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GATGGATAATGGAGAAAGAAA	0.353000														83			40		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177928086	177928086	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:177928086A>G	uc001glj.1	-	13	1892	c.1026T>C	c.(1024-1026)atT>atC	p.I342I	SEC16B_uc001glk.1_Silent_p.I18I|SEC16B_uc001glh.1_5'UTR|SEC16B_uc001gli.1_Silent_p.I341I|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.I342I	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	341					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AAAACGTCATAATATCCACCT	0.493000														13			4		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170009647	170009647	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:170009647A>G	uc003fgs.2	+	12	1447	c.1209A>G	c.(1207-1209)ggA>ggG	p.G403G	PRKCI_uc003fgt.2_5'UTR	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	403	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAGGAAGGATTACGGCCAG	0.328000														13			14		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195767	172195767	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:172195767G>A	uc010zdo.2	-	3	674	c.533C>T	c.(532-534)tCt>tTt	p.S178F	METTL8_uc002ugu.4_Missense_Mutation_p.S178F|METTL8_uc002ugt.4_Missense_Mutation_p.S178F|METTL8_uc002ugs.4_Missense_Mutation_p.S128F|METTL8_uc010zdp.2_Missense_Mutation_p.S133F	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	178							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GTGTTTTTCAGAGTCTAGGTT	0.398000														74			45		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669111	80669111	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:80669111G>A	uc021rxa.1	-	2	904	c.851C>T	c.(850-852)tCc>tTc	p.S284F	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.S248F|DIO2_uc010asy.3_Missense_Mutation_p.S248F	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	248					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)		AAGGTTGTAGGAGAAGGGGCC	0.438000														11			12		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62397359	62397359	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62397359G>A	uc001nua.3	-	14	1763	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	GANAB_uc001nub.3_Missense_Mutation_p.T555I|GANAB_uc001nuc.3_Missense_Mutation_p.T458I|GANAB_uc010rma.2_Missense_Mutation_p.T463I|GANAB_uc010rmb.2_Missense_Mutation_p.T441I	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	555					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTTGAGCATGGTGACCTCAGG	0.532000														52			42		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905572	9905572	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:9905572C>T	uc004csu.1	+	6	4076	c.3986C>T	c.(3985-3987)tCc>tTc	p.S1329F	SHROOM2_uc004csv.2_Missense_Mutation_p.S164F|SHROOM2_uc011mic.1_Missense_Mutation_p.S164F|SHROOM2_uc004csw.1_Missense_Mutation_p.S164F	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1329	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGGATAAGTCCCTGGCCGAC	0.557000														9			27		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54264844	54264844	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:54264844G>A	uc004dtc.2	-	18	4384	c.3945C>T	c.(3943-3945)tcC>tcT	p.S1315S	WNK3_uc004dtd.2_Silent_p.S1268S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1268					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATCAGCTGTGGACTCCCGTG	0.423000														5			16		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47691530	47691530	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47691530G>T	uc001cqx.2	-	1	608	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.R11S|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	11					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGTCACTGCGAGCCGCCTCG	0.726000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									21			27		1.2476e-16	1.26605e-16	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128685509	128685509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:128685509G>A	uc003ifl.3	+	2	618	c.472G>A	c.(472-474)Gga>Aga	p.G158R		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	158					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGTCGATATTGGAAAAGGTAT	0.383000														43			22		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107039	107039	+	RNA	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrGL000211.1:107039G>A	uc003boa.3	+	3		c.738G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTGTGACAAAGAAAATAGAAC	0.373000														90			8		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039837	29039837	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:29039837G>A	uc002kws.3	+	5	656	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	183	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATGCCACAGATGCAGATGA	0.363000														21			9		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	880116	880117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:880116_880117GG>AA	uc002lqd.1	-	7	1324_1325	c.1173_1174CC>TT	c.(1171-1176)gtccac>gtTTac	p.H392Y	MED16_uc010drw.2_Missense_Mutation_p.H217Y|MED16_uc002lqe.3_Missense_Mutation_p.H381Y|MED16_uc002lqf.3_Missense_Mutation_p.H381Y|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.H381Y|MED16_uc010xfx.1_Missense_Mutation_p.H237Y|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	392					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGATGTGGACGCTGCCGT	0.713000														13			13		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431589	140431589	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140431589C>T	uc003lik.1	+	0	611	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGGTATTTCCACCTGCACA	0.567000														17			25		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743797	102743797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:102743797G>A	uc001krw.2	+	13	2825	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Missense_Mutation_p.P167L|MRPL43_uc001krz.1_Non-coding_Transcript|MRPL43_uc001ksa.1_Missense_Mutation_p.P167L|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	809					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTACCAGCAGGGCCCTGCTCC	0.587000														69			13		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70515342	70515342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70515342G>A	uc002ezc.3	-	17	2166	c.2155C>T	c.(2155-2157)Ctt>Ttt	p.L719F	COG4_uc002ezd.3_Missense_Mutation_p.L698F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Missense_Mutation_p.L413F	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	715	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACCGTGGTAAGGTAGGCAATG	0.597000														80			44		0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5099321	5099321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:5099321G>A	uc002wlp.3	-	2	525	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	PCNA_uc002wlq.3_Nonsense_Mutation_p.Q108*|PCNA_uc010zqs.1_Missense_Mutation_p.P138L|PCNA-AS1_uc021wai.1_5'Flank	NM_182649	NP_872590	P12004	PCNA_HUMAN	Homo sapiens proliferating cell nuclear antigen (PCNA), transcript variant 2, mRNA.	108					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell proliferation|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	DNA replication factor C complex|PCNA complex|PCNA-p21 complex|cytoplasm|microtubule cytoskeleton|nuclear replication fork|nucleoplasm	DNA polymerase processivity factor activity|MutLalpha complex binding|dinucleotide insertion or deletion binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACTTTCTCCTGGTCTACCAAA	0.383000								DNA polymerases (catalytic subunits)						45			28		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403116	248403116	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248403116G>A	uc010pzh.2	+	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGCAACAAAGAAGTGTTCAG	0.423000														38			13		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66283386	66283386	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:66283386C>T	uc001oii.1	+	6	762	c.684C>T	c.(682-684)tcC>tcT	p.S228S	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Silent_p.S191S|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Silent_p.S191S|BBS1_uc001oik.1_Silent_p.S115S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	191					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AACACAAGTCCAACTCCATCA	0.438000									Bardet-Biedl syndrome					39			27		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969374	35969374	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:35969374C>T	uc004ddj.3	+	4	849	c.783C>T	c.(781-783)ttC>ttT	p.F261F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	261										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTCCTGTTTTCTTCGGATCAT	0.403000														2			13		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727228	137727228	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:137727228C>T	uc003lcy.1	+	7	2107	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	KDM3B_uc010jew.1_Missense_Mutation_p.P292L|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTTCTAATCCTTTCCTGGCA	0.493000														60			13		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229592	3229592	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3229592C>T	uc004crg.4	-	6	6809	c.6652G>A	c.(6652-6654)Gat>Aat	p.D2218N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2218	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACAGGTAATCTCCGGCATCT	0.453000														7			24		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800455	48800455	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:48800455G>A	uc002pir.2	-	13	2474	c.1791C>T	c.(1789-1791)ggC>ggT	p.G597G	CCDC114_uc002piq.2_Silent_p.G406G|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	597	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGTCACGTGGCCCCCACTCG	0.647000														31			13		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409709	121409709	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121409709G>A	uc010hrc.3	-	13	8628	c.8502C>T	c.(8500-8502)aaC>aaT	p.N2834N	GOLGB1_uc003eei.4_Silent_p.N2829N|GOLGB1_uc003eej.4_Silent_p.N2795N|GOLGB1_uc021xcy.1_Silent_p.N2754N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2829					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTGCACTTGGTTATAAGAAT	0.443000														17			7		0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73409708	73409708	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:73409708C>T	uc001xng.3	+	5	658	c.438C>T	c.(436-438)gcC>gcT	p.A146A	DCAF4_uc010ttr.2_Silent_p.A124A|DCAF4_uc001xnj.3_Silent_p.A146A|DCAF4_uc001xnh.3_Silent_p.A46A|DCAF4_uc010tts.2_Intron|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Silent_p.A146A	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	146						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTTTAGCCCACGAGCTGC	0.567000														7			6		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					35			32		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109921395	109921395	+	Silent	SNP	C	T	T	rs141528351	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:109921395C>T	uc001top.3	+	2	642	c.39C>T	c.(37-39)atC>atT	p.I13I	UBE3B_uc001toq.3_Silent_p.I13I|UBE3B_uc001tom.3_Silent_p.I13I|UBE3B_uc001ton.3_Silent_p.I13I|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.I13I|UBE3B_uc001tor.3_Silent_p.I13I	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	13					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATGGTTCATCGATAGAGCCC	0.527000														67			47		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098367	168098367	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168098367G>A	uc002udx.3	+	7	1212	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	XIRP2_uc010fpn.3_Missense_Mutation_p.E408K|XIRP2_uc010fpo.3_Missense_Mutation_p.E375K|XIRP2_uc002udy.3_Missense_Mutation_p.E200K|XIRP2_uc010fpq.3_Missense_Mutation_p.E153K|XIRP2_uc010fpr.3_Missense_Mutation_p.E153K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	200					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCTGCCCAGGAAAAGATCCT	0.383000														88			44		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320904	52320904	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:52320904C>T	uc003xqu.4	-	16	3381	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1094					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCCACCTTCCTTGATTATT	0.532000														41			43		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145153994	145153994	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:145153994T>C	uc002tvu.3	-	8	3574	c.3052A>G	c.(3052-3054)Aaa>Gaa	p.K1018E	ZEB2_uc010zbm.2_Missense_Mutation_p.K994E|ZEB2_uc002tvv.3_Missense_Mutation_p.K1012E|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1018						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTTCGTATTTATGTCGCAGA	0.418000														117			68		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3238348G>A	uc004crg.4	-	4	5535	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483000														5			15		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797362	127797362	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:127797362C>T	uc003qbd.3	-	5	2674	c.1809G>A	c.(1807-1809)agG>agA	p.R603R	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	603						integral to membrane											CGACGATTTTCCTGCCCAGGA	0.607000														30			43		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719772	57719772	+	Silent	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57719772T>C	uc002emh.3	+	10	1577	c.1474T>C	c.(1474-1476)Ttg>Ctg	p.L492L	GPR97_uc010vhv.2_Silent_p.L372L|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Silent_p.L100L	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACATGGGGGTTGGCCATCTT	0.617000														46			34		0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843631	137843631	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:137843631C>T	uc003ers.2	-	2	700	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	166					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CATCGGTGTCCATGTAGATGC	0.547000														306			156		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960705	33960705	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33960705C>T	uc001bxj.4	+	7	2928	c.2761C>T	c.(2761-2763)Cac>Tac	p.H921Y	ZSCAN20_uc009vui.3_Missense_Mutation_p.H920Y	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	921					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGGCCAACCACCAGCGCAC	0.522000														77			20		0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20207928	20207928	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:20207928C>T	uc001umh.3	+	0	141	c.40C>T	c.(40-42)Cct>Tct	p.P14S	MPHOSPH8_uc001umg.3_Missense_Mutation_p.P14S	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	14					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GACCGCAGTCCCTGTGTCAGC	0.627000														5			12		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937160	21937160	+	RNA	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:21937160G>A	uc010tzj.1	-	0		c.3580C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCCTAGCAAGGTATTCCACGA	0.413000														50			13		0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86354352	86354352	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:86354352C>T	uc003ydj.3	+	2	366	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	CA3_uc011lfv.2_Intron	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	95					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGTTTCATCTTCACTGGGG	0.512000														62			48		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925587	70925587	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:70925587C>T	uc021rvq.1	+	0	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ADAM21_uc001xmd.3_Silent_p.F457F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	457	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGCAAGTTCATGCCATCAG	0.488000														6			26		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419937	149419937	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:149419937C>T	uc003wfz.3	+	6	1061	c.662C>T	c.(661-663)cCt>cTt	p.P221L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	221										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCTTGTGCCTGGGCCCCGG	0.622000														68			25		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204006	9204006	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9204006C>T	uc010xkj.2	+	0	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCTCTTTTCCCTGTTCTTC	0.517000														39			23		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2339139	2339139	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:2339139G>A	uc001lvy.1	+	9	1085	c.948G>A	c.(946-948)cgG>cgA	p.R316R	TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.R286R|TSPAN32_uc001lwb.1_3'UTR|TSPAN32_uc001lwc.1_Silent_p.R261R|TSPAN32_uc001lwd.1_Silent_p.R248R	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	316					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		gccctgagcggggtctctcag	0.592000														21			10		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507089	74507089	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74507089G>A	uc001dfy.4	-	6	1718	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGCCTTTTGGGATTTTTCTTT	0.358000														23			81		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:69552622G>A	uc010lyz.3	+	7	1408	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	C8orf34_uc003xyb.3_Missense_Mutation_p.D262N	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	287					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398000														30			10		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148877926	148877926	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:148877926C>T	uc003ewu.1	+	10	2106	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	HPS3_uc011bnq.1_Missense_Mutation_p.P491S|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	656						cytoplasm		p.P656L(1)|p.P656P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATATTAATCCTTTAACTGC	0.423000									Hermansky-Pudlak syndrome					53			35		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316579	45316579	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45316579G>A	uc002ozu.3	+	4	621	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BCAM_uc002ozt.1_Missense_Mutation_p.E193K	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	193	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.E193*(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGCGCCTGGAGGTGCCCGT	0.697000														143			94		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62574124	62574124	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:62574124C>T	uc001dab.3	+	33	4507	c.4393C>T	c.(4393-4395)Cat>Tat	p.H1465Y	INADL_uc009waf.1_Missense_Mutation_p.H1495Y|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Missense_Mutation_p.H1162Y|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.H279Y|INADL_uc009wag.3_Missense_Mutation_p.H249Y|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1465	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATAGTTATCCATGAAGTCTA	0.348000														24			19		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391335	31391335	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:31391335C>T	uc002ebt.3	+	25	3076	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_uc002ebu.1_Silent_p.I1003I	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1003					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577000														30			18		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105474282	105474282	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:105474282G>C	uc003pqv.1	+	2	511	c.308G>C	c.(307-309)gGt>gCt	p.G103A	LIN28B_uc010kda.1_Missense_Mutation_p.G63A	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	103					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACAGGACCTGGTGGGAGCCCC	0.393000														37			41		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889516	57889516	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:57889516G>A	uc003hcl.1	+	18	2579	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	POLR2B_uc011cae.1_Missense_Mutation_p.D839N|POLR2B_uc011caf.1_Missense_Mutation_p.D771N|POLR2B_uc003hcm.1_Missense_Mutation_p.D339N	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	846					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418000														22			16		0	0	1	0	0
KRTDAP	388533	broad.mit.edu	37	19	35978362	35978362	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:35978362C>T	uc002nzh.3	-	5	357	c.268G>A	c.(268-270)Gga>Aga	p.G90R	KRTDAP_uc021uso.1_Missense_Mutation_p.G76R	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	90					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCTCAGTCCTTTCAGCTAG	0.552000														69			31		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797377	71797377	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:71797377C>T	uc010fen.3	+	27	3139	c.2998C>T	c.(2998-3000)Ccc>Tcc	p.P1000S	DYSF_uc010fei.3_Missense_Mutation_p.P999S|DYSF_uc010feh.3_Missense_Mutation_p.P968S|DYSF_uc002sig.4_Missense_Mutation_p.P968S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1013S|DYSF_uc010fee.3_Missense_Mutation_p.P982S|DYSF_uc010fef.3_Missense_Mutation_p.P999S|DYSF_uc002sie.3_Missense_Mutation_p.P982S|DYSF_uc010feo.3_Missense_Mutation_p.P1014S|DYSF_uc010fej.3_Missense_Mutation_p.P969S|DYSF_uc010fel.3_Missense_Mutation_p.P969S|DYSF_uc010fem.3_Missense_Mutation_p.P983S|DYSF_uc002sif.3_Missense_Mutation_p.P983S|DYSF_uc010fek.3_Missense_Mutation_p.P1000S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	982						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTGCTTCCCAAGGATGA	0.532000														58			25		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	59339	59339	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:59339G>A	uc003fzv.1	+	1	176	c.20G>A	c.(19-21)aGg>aAg	p.R7K	ZNF718_uc003fzt.4_Missense_Mutation_p.R7K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTAACATTCAGGGATGTGGCC	0.418000														292			15		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644232	53644232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53644232G>A	uc002qbc.2	-	4	2279	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	ZNF347_uc002qbb.2_Nonsense_Mutation_p.R617*|ZNF347_uc010eql.2_Nonsense_Mutation_p.R618*	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAATTCGCTGATGCCTT	0.398000														43			29		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736335	30736335	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:30736335G>A	uc002dze.1	+	24	5975	c.5590G>A	c.(5590-5592)Gct>Act	p.A1864T	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1659T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1864	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCCTCCACTGCTACCTCGTT	0.602000														86			34		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771362	143771362	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:143771362C>T	uc011ktx.2	+	0	50	c.50C>T	c.(49-51)cCc>cTc	p.P17L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTGGGATTTCCCATTGGCCCA	0.493000														101			31		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645900	51645900	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:51645900C>T	uc002pvv.1	+	0	343	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R92W|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R92W	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	92	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGGAAACTCGGGACCGATT	0.537000														65			30		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575056	28575056	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:28575056C>T	uc003xgz.1	+	2	2073	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	494						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TACCGAGGTTCATTTCCTGCT	0.587000														45			18		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574371	52574371	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52574371G>A	uc001rzw.3	-	1	748	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	KRT80_uc001rzy.3_Missense_Mutation_p.H198Y|KRT80_uc001rzx.3_Missense_Mutation_p.H198Y	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	198	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCAGTCCGATGAAGACACTCT	0.572000														68			36		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028112	44028112	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:44028112G>A	uc003bdy.2	-	18	2419	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P550L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P550L|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCTCTCATTGGAGGATCTGG	0.448000														82			43		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684337	100684337	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:100684337A>G	uc003uxp.1	+	2	9693	c.9640A>G	c.(9640-9642)Acc>Gcc	p.T3214A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3214	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATTCCAACCTCAACTCC	0.498000														169			220		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775621	72775621	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72775621C>T	uc002llw.2	+	7	5997	c.5944C>T	c.(5944-5946)Ccc>Tcc	p.P1982S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1982					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGAGTCGCTCCCCCCGAGGC	0.622000														14			8		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599747	136599747	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:136599747C>T	uc003qgx.1	-	3	525	c.272G>A	c.(271-273)gGt>gAt	p.G91D	BCLAF1_uc003qgy.1_Missense_Mutation_p.G89D|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G89D|BCLAF1_uc003qgw.1_Missense_Mutation_p.G91D	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	91					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATAACCACCTCGATGATA	0.463000														79			28		0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6312573	6312573	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:6312573G>A	uc003jdn.1	-	1	400	c.303C>T	c.(301-303)atC>atT	p.I101I						Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA.																		CTGAGCGGCCGATCCATCTTG	0.587000														5			10		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886955	25886955	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:25886955G>A	uc001isj.3	+	10	2460	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	GPR158_uc001isk.3_Silent_p.G175G	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	800						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAACACAGGGAAATCCAAGG	0.547000														50			33		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551745	21551745	+	Missense_Mutation	SNP	G	A	A	rs144860890	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:21551745G>A	uc001bek.2	-	16	2113	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	ECE1_uc001bem.2_Missense_Mutation_p.R664W|ECE1_uc001bej.2_Missense_Mutation_p.R668W|ECE1_uc001bei.2_Missense_Mutation_p.R677W|ECE1_uc010odl.1_Missense_Mutation_p.R680W	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	680					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTCTCACCCGATAGGCCGCC	0.657000														30			45		0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204908	50204908	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:50204908G>A	uc001vdf.2	+	1	660	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ARL11_uc021rjo.1_Missense_Mutation_p.D109N	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	109					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGTCCTGAACGACCCCAACAT	0.567000														55			40		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131797658	131797658	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:131797658C>T	uc003ytd.4	-	15	3380	c.3124G>A	c.(3124-3126)Gcc>Acc	p.A1042T	ADCY8_uc010mds.3_Missense_Mutation_p.A911T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGACACGGCCATGTAGGTG	0.502000										HNSCC(32;0.087)				34			32		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651589	8651589	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8651589C>T	uc002mkj.1	-	19	2530	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	ADAMTS10_uc002mki.1_Silent_p.Q239Q|ADAMTS10_uc002mkk.1_Silent_p.Q384Q	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	752	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCAGGGACTCCTGGTCTCCCT	0.647000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			39		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262565	158262565	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:158262565C>T	uc001fru.3	+	3	1082	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	264	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GACATGGTATCTTCAGGTGAT	0.527000														64			41		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228484	39228484	+	Missense_Mutation	SNP	C	T	T	rs145488377	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:39228484C>T	uc003cjk.2	-	1	2682	c.2453G>A	c.(2452-2454)cGa>cAa	p.R818Q	XIRP1_uc003cji.3_Missense_Mutation_p.R818Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R818Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	818							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTCCTTTCGTATATAAGG	0.617000														43			33		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60559752	60559752	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:60559752G>A	uc001npz.1	+	3	414	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	106						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TCATTTCAGGGATCTTGGCGA	0.448000														69			46		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4777098	4777098	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:4777098A>C	uc002cxj.2	-	3	546	c.251T>G	c.(250-252)aTc>aGc	p.I84S	ANKS3_uc002cxi.2_Missense_Mutation_p.I11S|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Intron|ANKS3_uc010uxs.2_Missense_Mutation_p.I11S|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CAGGTGCACGATTGTGTCGTG	0.542000														29			17		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92116	92116	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:92116C>T	uc010sdi.1	-	1	222	c.194G>A	c.(193-195)tGc>tAc	p.C65Y	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CAGCGCCAGGCAGTGGTGCAG	0.597000														14			6		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397095	57397095	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:57397095G>A	uc001sml.2	-	1	1760	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V	ZBTB39_uc021qzg.1_Missense_Mutation_p.A536V	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGGAAGAGGGCGTCTTCCAG	0.552000														14			6		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														8			3		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544666	126544666	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:126544666T>G	uc003vlr.2	-	2	1110	c.799A>C	c.(799-801)Aaa>Caa	p.K267Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K267Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	267					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCAGGCGTTTGATAATTTTT	0.408000										HNSCC(24;0.065)				64			15		0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138764372	138764372	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:138764372C>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTTCTTGATCCTAAAAAAAA	0.373000														21			29		0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676897	54676897	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:54676897A>G	uc001sfl.3	+	7	890	c.786A>G	c.(784-786)ggA>ggG	p.G262G	CBX5_uc001sfk.4_5'Flank|HNRNPA1_uc001sfm.3_Intron|HNRNPA1_uc001sfn.3_Intron|HNRNPA1_uc001sfo.3_Intron|HNRNPA1_uc009znj.1_Intron	NM_031157	NP_112420	P09651	ROA1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), transcript variant 2, mRNA.	262	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTTACTCTGGAGGAAGCAGAG	0.483000														15			14		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:109522810C>T	uc010fjn.3	-	10	1621	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_uc010yws.2_Silent_p.R358R|EDAR_uc002teq.4_Silent_p.R326R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	326	Death.		R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGATCTTTTTCCTCCGGCTTT	0.507000														41			31		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48678188	48678188	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:48678188T>G	uc002rwm.3	+	1	284	c.99T>G	c.(97-99)gaT>gaG	p.D33E	PPP1R21_uc002rwi.1_Missense_Mutation_p.D33E|PPP1R21_uc002rwj.3_Missense_Mutation_p.D33E|PPP1R21_uc002rwl.3_5'UTR|PPP1R21_uc002rwk.3_Missense_Mutation_p.D33E|PPP1R21_uc010yok.2_Missense_Mutation_p.D33E	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	33										endometrium(2)|kidney(4)|lung(9)	15						GTGTTGTGGATGAACAAGCAA	0.383000														51			37		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022393	75022393	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:75022393G>A	uc001xqa.3	-	3	1221	c.834C>T	c.(832-834)acC>acT	p.T278T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	278					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCACTCAGGGTCCTGTGGA	0.627000														8			19		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422470	89422470	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:89422470C>T	uc002bnd.3	-	4	791	c.710G>A	c.(709-711)gGg>gAg	p.G237E	HAPLN3_uc002bnc.3_Missense_Mutation_p.G175E|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	175	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.P236P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTGGTAGCGCCCGTTGGGGGA	0.657000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			18		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120896	46120896	+	Silent	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:46120896A>T	uc001coq.3	-	4	1517	c.156T>A	c.(154-156)ggT>ggA	p.G52G		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGTTAAAAAAACCATCAGAGG	0.478000														125			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745897	140745897	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140745897G>A	uc003lju.2	+	0	2000	c.2000G>A	c.(1999-2001)aGg>aAg	p.R667K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.R667K	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCGACAGGATCCCTGAC	0.612000														167			27		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203833	5203833	+	RNA	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:5203833G>A	uc009xhz.2	-	2		c.447C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ATAGCAAATGGTACATGAATA	0.408000														13			15		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203696666	203696666	+	Silent	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:203696666C>A	uc001gzw.3	+	19	4173	c.3276C>A	c.(3274-3276)ctC>ctA	p.L1092L	ATP2B4_uc001gzv.3_Silent_p.L1092L|ATP2B4_uc009xaq.3_Silent_p.L1092L|ATP2B4_uc001gzx.3_Silent_p.L123L|ATP2B4_uc009xar.3_Silent_p.L87L|ATP2B4_uc010pqj.1_5'Flank|U42379_uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1092	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCAGATCCTCTGGTTCCGGG	0.577000														115			5		1	1	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516390	140516390	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140516390C>T	uc003liq.3	+	0	1591	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGAGAGA	0.617000														57			60		0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185457	41185457	+	RNA	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:41185457C>T	uc003oqb.3	-	0		c.229G>A								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		TTGTAGATTTCACACCAGTAG	0.448000														2			4		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969286	72969286	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:72969286G>A	uc001sxa.3	+	11	2180	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	717					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCAGTAACCGAGCGGGCTTG	0.388000														31			22		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101847763	101847763	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:101847763C>T	uc003uys.4	+	18	3160	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I1000I	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1000					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCCTTCATCCGGATGCAGC	0.647000														115			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453632	82453632	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:82453632G>A	uc003uhx.2	-	18	14805	c.14516C>T	c.(14515-14517)tCc>tTc	p.S4839F	PCLO_uc003uhv.2_Missense_Mutation_p.S4839F|PCLO_uc003uht.1_Missense_Mutation_p.S281F|PCLO_uc003uhu.1_Missense_Mutation_p.S260F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4701					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4839S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCTGACTGGAATGAGACTT	0.428000														23			33		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778887	36778887	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:36778887C>T	uc003cgi.2	-	1	1755	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	422	Protein kinase.		E -> K (in a colorectal adenocarcinoma sample; somatic mutation).			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E422K(2)|p.Y421Y(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGTCTGTTTCGTAGACTTCA	0.507000														43			29		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186103	12186103	+	Missense_Mutation	SNP	C	T	T	rs140319459		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:12186103C>T	uc001atq.3	+	10	1471	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	TNFRSF8_uc010obc.2_Missense_Mutation_p.R306W|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	417					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGAATTCGGCAGAGTAA	0.632000														91			27		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697088	48697088	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:48697088C>T	uc003cuf.1	-	2	3190	c.3190G>A	c.(3190-3192)Ggc>Agc	p.G1064S	CELSR3_uc003cul.3_Missense_Mutation_p.G994S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	994	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGACCCGGCCATTGGCATGA	0.547000														21			16		0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27822666	27822666	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:27822666T>C	uc001itv.3	+	4	312	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	RAB18_uc001itw.3_Missense_Mutation_p.Y117H|RAB18_uc010qdq.2_Missense_Mutation_p.Y88H|RAB18_uc010qdr.2_Intron	NM_021252	NP_067075	Q9NP72	RAB18_HUMAN	Homo sapiens RAB18, member RAS oncogene family (RAB18), transcript variant 1, mRNA.	88					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TATTTCAGTTTATGATGTCAC	0.303000														34			23		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53352422	53352422	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53352422C>T	uc002qaf.3	-	2	211	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF468_uc002qae.3_5'UTR	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTTCCACTCCTCCTGAGAGA	0.458000														191			10		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103307739	103307739	+	Silent	SNP	G	A	A	rs139159922	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:103307739G>A	uc003ykr.2	-	29	4289	c.3834C>T	c.(3832-3834)ttC>ttT	p.F1278F	UBR5_uc003yks.2_Silent_p.F1278F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1278					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGTACTAAGAATAGTAAGA	0.488000														42			39		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192125916	192125916	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:192125916G>A	uc003fsx.3	-	0	923	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	FGF12_uc003fsy.3_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	33					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCTTTGCTGGGGCTGGAGCGG	0.677000														58			48		0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62592569	62592569	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62592569G>A	uc001nvh.3	-	7	775	c.618C>T	c.(616-618)agC>agT	p.S206S	STX5_uc010rmj.2_Silent_p.S206S|STX5_uc010rmi.2_Silent_p.S110S	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	206					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GCTCTCTCCGGCTCCTCTGCT	0.582000														25			18		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151116	11151116	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:11151116G>A	uc001asa.3	-	4	648	c.598C>T	c.(598-600)Cct>Tct	p.P200S	EXOSC10_uc001asb.3_Missense_Mutation_p.P200S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P200S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	200					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGATTTTAGGAAGAAATGGT	0.393000														94			52		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73945826	73945826	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:73945826G>A	uc002jqe.3	-	9	1812	c.1451C>T	c.(1450-1452)aCc>aTc	p.T484I	ACOX1_uc010wsq.2_Missense_Mutation_p.T446I|ACOX1_uc010wsr.2_Missense_Mutation_p.T416I|ACOX1_uc002jqf.3_Missense_Mutation_p.T484I	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	484					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ATATGCTTCGGTTAGGCTTTC	0.562000														55			45		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:2939042C>T	uc001ajz.3	+	0	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000														58			56		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81150981	81150981	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:81150981C>T	uc002fgh.1	-	40	6762	c.6762G>A	c.(6760-6762)agG>agA	p.R2254R	PKD1L2_uc002fgf.1_Silent_p.R56R|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2256					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACTCCTCCCTGTGGTTCC	0.642000														18			15		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242181883	242181883	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:242181883C>T	uc002waz.3	-	16	2334	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	HDLBP_uc002wba.3_Missense_Mutation_p.E721K|HDLBP_uc021vzg.1_Missense_Mutation_p.E688K	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	721	KH 8.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACCTTCTCCTCCGCCAGATGC	0.572000														30			12		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996221	143996221	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143996221G>A	uc003yxk.1	-	3	702	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	233					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGACGGTGGATTTGAACA	0.582000									Familial Hyperaldosteronism type I					20			30		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714852	52714852	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52714852C>T	uc001saf.2	-	0	331	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	90	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGCTCTCGTTGACCGAC	0.667000														133			51		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359137	145359137	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:145359137C>T	uc021oul.1	+	71	9112	c.9077C>T	c.(9076-9078)gCc>gTc	p.A3026V	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3026										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TACAGAAGTGCCTTTTATGTA	0.458000														438			11		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:93837781G>A	uc001pep.2	+	15	2927	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000														57			27		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457810	98457810	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98457810G>A	uc003upo.3	-	2	732	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_uc011kiq.2_Silent_p.F162F|TMEM130_uc011kir.2_Silent_p.F181F|TMEM130_uc003upn.3_Silent_p.F79F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	181	PKD.					Golgi membrane|integral to membrane		p.F181F(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCGTCCCCGAAGTCCCAGC	0.582000														23			25		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965571	25965571	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:25965571G>A	uc002rgs.2	-	11	3856	c.3635C>T	c.(3634-3636)tCa>tTa	p.S1212L	ASXL2_uc002rgt.1_Missense_Mutation_p.S695L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGGTCCTGAACTTGTGTC	0.473000														40			31		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568061	119568061	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:119568061G>A	uc004bjt.2	-	11	2194	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F	ASTN2_uc022bml.1_Missense_Mutation_p.S394F|ASTN2_uc022bmm.1_Missense_Mutation_p.S398F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	749						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATTAAGCAGGATTTTCCATC	0.478000														91			43		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126202270	126202270	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:126202270C>T	uc010hsi.2	-	19	2066	c.2012G>A	c.(2011-2013)gGt>gAt	p.G671D	UROC1_uc003eiz.2_Missense_Mutation_p.G611D	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	611					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTCCGGGGTACCGTCCAGCAC	0.627000														32			8		0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68714894	68714894	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68714894C>T	uc002ewf.2	+	7	2023	c.891C>T	c.(889-891)acC>acT	p.T297T	CDH3_uc010vli.1_Silent_p.T242T	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	297	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACACACTGACCATCCAGGCCA	0.567000														56			28		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176851	43176851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:43176851G>A	uc002yzn.1	-	1	356	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.S103F(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTTCCAGGGAGCCCGTCTC	0.587000														36			25		0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21100054	21100054	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:21100054G>A	uc001bdy.1	-	3	500	c.400C>T	c.(400-402)Cct>Tct	p.P134S	HP1BP3_uc001bdv.1_Missense_Mutation_p.P96S|HP1BP3_uc001bdw.1_Missense_Mutation_p.P134S|HP1BP3_uc010odh.1_Missense_Mutation_p.P96S|HP1BP3_uc001bea.2_Missense_Mutation_p.P133S|HP1BP3_uc010odg.1_5'UTR	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	134					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCCCAGGAAGGAATTGTTTTT	0.418000														24			9		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624805	33624805	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:33624805A>G	uc010mjx.3	+	0	583	c.534A>G	c.(532-534)agA>agG	p.R178R	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	178					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CAAAGGGTAGAAGAGCAGAGG	0.473000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			23		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704715	12704715	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:12704715C>T	uc001auf.3	+	0	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	50						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTGCATATTCCTCTACCTGG	0.507000														117			41		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17369132	17369132	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:17369132C>T	uc002nfs.1	-	7	1222	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G306E	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	370							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCTTCGTCTCCTGCTCCTGA	0.572000														67			24		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457655	110457655	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110457655G>A	uc003yne.3	+	37	5661	c.5557G>A	c.(5557-5559)Gga>Aga	p.G1853R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1853	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATCACAGGAAATGGCTT	0.502000										HNSCC(38;0.096)				28			24		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111711514	111711514	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111711514G>A	uc010rwn.2	-	8	998	c.899C>T	c.(898-900)cCg>cTg	p.P300L	ALG9_uc001ply.3_Missense_Mutation_p.P175L|ALG9_uc001plz.3_Missense_Mutation_p.P175L|ALG9_uc021qql.1_Missense_Mutation_p.P175L|ALG9_uc021qqm.1_Missense_Mutation_p.P175L|ALG9_uc010rwo.2_Missense_Mutation_p.P174L|ALG9_uc009yyh.1_Missense_Mutation_p.P241L	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	346					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGCCAATACGGGTGGCCTAA	0.343000														43			29		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42103103	42103104	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:42103103_42103104CC>TT	uc001zok.4	+	3	515_516	c.229_230CC>TT	c.(229-231)ccc>TTc	p.P77F	MAPKBP1_uc010bci.3_Missense_Mutation_p.P77F|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P77F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'Flank	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	77										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTTGTTCAATCCCCGGAAACAC	0.559000														53			27		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980875	121980875	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121980875G>A	uc003eew.4	+	3	1431	c.993G>A	c.(991-993)cgG>cgA	p.R331R	CASR_uc003eev.4_Silent_p.R331R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	331					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGGCTTCCGGGAATTCCTGA	0.547000														33			19		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67083609	67083609	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:67083609G>A	uc002jhw.1	-	28	3879	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1235					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTTGGGGGGAAATTCTATG	0.378000														96			109		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695668	40695668	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:40695668C>T	uc002hzv.3	+	5	1984	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	548						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CATCTGCTCCCTCCCTGGCCA	0.622000														16			8		0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	968479	968479	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:968479G>A	uc002lql.3	+	7	1860	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	524	REKLES.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTCGGTGGAGATCAACGG	0.602000														41			16		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129940	190129940	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:190129940C>T	uc001gse.1	-	6	1274	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	FAM5C_uc010pot.1_Missense_Mutation_p.D246N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	348						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAATTAGAATCCATTGTCCAC	0.338000														75			21		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976030	121976030	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121976030G>A	uc003eew.4	+	2	726	c.288G>A	c.(286-288)agG>agA	p.R96R	CASR_uc003eev.4_Silent_p.R96R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	96					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGATACAGGATATTTGACA	0.443000														62			34		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100461583	100461583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:100461583G>A	uc003huw.3	+	7	1213	c.851G>A	c.(850-852)gGa>gAa	p.G284E	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	284										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCAAGTCAAGGATCTGAAGAA	0.333000														56			27		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189289	124189289	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:124189289C>T	uc010sah.2	-	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTCTTTTTCCATAGTAGTG	0.428000														98			66		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059693	248059693	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248059693G>A	uc010pzb.2	+	0	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OR2W3_uc001idp.1_Missense_Mutation_p.D269N	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTTCCCAGGACCAGGGCAT	0.542000														73			24		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998218	10998218	+	RNA	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:10998218G>A	uc002yis.1	-	10		c.2035C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGTCTGTATGGTTTCCTTTT	0.358000														75			18		0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65720284	65720284	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:65720284G>A	uc002jgd.1	+	5	642	c.639G>A	c.(637-639)cgG>cgA	p.R213R	NOL11_uc010wql.1_Silent_p.R31R|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	213						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGTAGATCGGAAATTCATCT	0.308000														21			21		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117744240	117744240	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:117744240C>T	uc004eqp.2	+	27	3018	c.2955C>T	c.(2953-2955)ccC>ccT	p.P985P	DOCK11_uc004eqq.2_Silent_p.P751P	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	985					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAGCTTCCCCGAGGCCAGA	0.383000														6			15		0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41010893	41010893	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:41010893G>T	uc003opj.3	+	1	470	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Silent_p.S66S|TSPO2_uc011dub.2_Missense_Mutation_p.V57L	NM_001010873	NP_001153198	Q5TGU0	TSPO2_HUMAN	Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA.	57					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTACTCTGTCGTGGGGTGAGT	0.498000														68			29		2.42023e-17	2.45846e-17	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56077108	56077108	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:56077108G>A	uc010qhy.1	-	8	1209	c.814C>T	c.(814-816)Cct>Tct	p.P272S	PCDH15_uc010qhq.2_Missense_Mutation_p.P272S|PCDH15_uc010qhr.2_Missense_Mutation_p.P267S|PCDH15_uc021pqv.1_Missense_Mutation_p.P267S|PCDH15_uc021pqw.1_Missense_Mutation_p.P272S|PCDH15_uc010qht.2_Missense_Mutation_p.P267S|PCDH15_uc021pqx.1_Missense_Mutation_p.P267S|PCDH15_uc001jjv.1_Missense_Mutation_p.P245S|PCDH15_uc021pqy.1_Missense_Mutation_p.P267S|PCDH15_uc021pqz.1_Missense_Mutation_p.P245S|PCDH15_uc010qhv.1_Missense_Mutation_p.P267S|PCDH15_uc010qhw.1_Missense_Mutation_p.P230S|PCDH15_uc010qhx.1_Missense_Mutation_p.P267S|PCDH15_uc010qhz.1_Missense_Mutation_p.P267S|PCDH15_uc010qia.1_Missense_Mutation_p.P245S|PCDH15_uc001jju.1_Missense_Mutation_p.P267S|PCDH15_uc010qib.1_Missense_Mutation_p.P245S|PCDH15_uc001jjw.3_Missense_Mutation_p.P267S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	267					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGACACAAGGAAGAAACATT	0.478000										HNSCC(58;0.16)				39			39		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70088210	70088210	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:70088210C>T	uc001svg.3	-	2	414	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	BEST3_uc001svd.2_Missense_Mutation_p.E63K|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	63						chloride channel complex|plasma membrane	chloride channel activity	p.E63Q(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAATTTTTCAAAGTAACGT	0.378000														14			8		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76074431	76074431	+	Missense_Mutation	SNP	C	T	T	rs149323153	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:76074431C>T	uc010umm.1	+	7	610	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000														32			6		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039847	31039847	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:31039847C>T	uc002nsu.1	+	3	3459	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	ZNF536_uc010edd.1_Silent_p.F1107F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTTGTAACTTCCCATCAGACT	0.562000														45			17		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043053	112043053	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:112043053C>T	uc001ebh.4	-	1	1243	c.476G>A	c.(475-477)aGa>aAa	p.R159K	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	159					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGTGACATTTCTGTGGTACTC	0.493000														64			41		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20998665	20998665	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20998665C>T	uc010vbe.2	-	46	6988	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2330					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGGTGGTTTCCTTCACCATG	0.423000														54			27		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74865707	74865707	+	Missense_Mutation	SNP	C	T	T	rs62562043		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:74865707C>T	uc004air.3	+	14	1612	c.1403C>T	c.(1402-1404)cCa>cTa	p.P468L	GDA_uc011lse.2_3'UTR|GDA_uc004aiq.3_3'UTR|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_3'UTR|GDA_uc004ais.3_Missense_Mutation_p.P390L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	0					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCCCATCCTCCACCATTTCCT	0.333000														83			72		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217580	50217580	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:50217580G>A	uc011arg.2	-	0	400	c.386C>T	c.(385-387)cCt>cTt	p.P129L	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.P129L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.P129L	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	129					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCGGACGGAGGGCTGTACTC	0.632000														56			43		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338770	103338770	+	Nonsense_Mutation	SNP	G	A	A	rs141134679		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103338770G>A	uc001vpj.3	-	3	412	c.406C>T	c.(406-408)Caa>Taa	p.Q136*		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	136							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCTGTGACTTGAGCTCCTAAG	0.408000														24			10		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597303	68597303	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68597303C>T	uc010cff.3	+	4	905	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	ZFP90_uc002ewb.3_Silent_p.F10F|ZFP90_uc002ewc.3_Silent_p.F10F|ZFP90_uc002ewd.3_Missense_Mutation_p.L205F|ZFP90_uc002ewe.3_Missense_Mutation_p.L205F	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	205					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAATAATATTCTTGCAAAAAA	0.358000														29			23		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24773136	24773136	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:24773136G>A	uc003xed.4	+	1	1132	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	NEFM_uc011lac.1_Missense_Mutation_p.E367K|NEFM_uc010lue.3_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	367	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAGCAGCTGGAAAATGAGCT	0.517000														48			22		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62931023	62931023	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:62931023C>T	uc001sre.3	+	14	2384	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*	MON2_uc010ssn.2_Nonsense_Mutation_p.Q665*|MON2_uc009zqj.3_Nonsense_Mutation_p.Q665*|MON2_uc010ssl.2_Nonsense_Mutation_p.Q593*|MON2_uc010ssm.2_Nonsense_Mutation_p.Q642*|MON2_uc001srf.3_Nonsense_Mutation_p.Q428*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	665					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTAGCAGTCCAGCCTCAAGG	0.398000														25			16		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114311009	114311009	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:114311009G>A	uc001edq.3	-	4	1697	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	554						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATTCATTGATCTAGAGTT	0.373000														5			18		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718959	107718959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:107718959G>A	uc011lht.2	+	7	1312	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	OXR1_uc022azp.1_Missense_Mutation_p.E404K|OXR1_uc003ymf.3_Missense_Mutation_p.E404K|OXR1_uc011lhu.2_Missense_Mutation_p.E397K|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.E102K|OXR1_uc003ymg.1_Missense_Mutation_p.E337K|OXR1_uc003ymi.1_Missense_Mutation_p.E316K	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	405					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTACAAATGAAGTTGGGAC	0.358000														55			17		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31334343	31334343	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31334343G>A	uc021sia.1	-	15	2263	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	TRPM1_uc010azy.3_Missense_Mutation_p.P518L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P633L|TRPM1_uc001zfm.3_Missense_Mutation_p.P611L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	611					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCGTGGAAGGGATACTGGAA	0.532000														17			8		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407925	75407925	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:75407925C>T	uc001jut.4	-	3	1637	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	SYNPO2L_uc001jus.4_Silent_p.A271A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	495	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGTCGTTCGCCCTTTTGG	0.652000														24			6		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810258	106810258	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:106810258G>A	uc009yxn.1	-	3	1524	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	GUCY1A2_uc001pjg.1_Silent_p.V378V|GUCY1A2_uc010rvo.1_Silent_p.V378V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	378					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCGCAGCAGGACCCTTTCAA	0.463000														56			24		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191163	185191163	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:185191163C>T	uc010hyf.3	+	11	2335	c.2044C>T	c.(2044-2046)Cca>Tca	p.P682S	MAP3K13_uc011brt.2_Missense_Mutation_p.P475S|MAP3K13_uc011bru.2_Missense_Mutation_p.P538S|MAP3K13_uc003fpi.3_Missense_Mutation_p.P682S|MAP3K13_uc010hyg.3_Missense_Mutation_p.P372S	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	682					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.P682S(3)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTGCGGAGCCCACTCAGCAA	0.592000														60			30		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21338364	21338364	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:21338364C>T	uc002kuq.3	+	6	1038	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	LAMA3_uc010dlv.2_Missense_Mutation_p.R318W|LAMA3_uc002kur.3_Missense_Mutation_p.R318W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	318	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCAGGTTTCGGTGTGAATG	0.557000														20			18		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265584	37265584	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:37265584C>T	uc002hrg.2	-	2	528	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	106					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCCACAGTTCCCGGCTGTGG	0.602000														21			17		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580038	145580038	+	Missense_Mutation	SNP	G	A	A	rs149139999		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:145580038G>A	uc003ijs.2	+	2	1249	c.569G>A	c.(568-570)gGa>gAa	p.G190E	HHIP_uc003ijr.2_Missense_Mutation_p.G190E	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	190						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAAGTCAGAGGACCAGCATCT	0.368000														46			29		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266760	48266760	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:48266760C>T	uc001ngs.1	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGGAATTTCCTCATTGTGC	0.473000														76			42		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347138	89347138	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:89347138G>A	uc002fmx.1	-	8	6273	c.5812C>T	c.(5812-5814)Ccc>Tcc	p.P1938S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1895S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAAGGGACCCTCGTCC	0.697000														47			21		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184014	19184014	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:19184014G>A	uc001bba.1	-	1	295	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	98					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACACATCCACGATCTCATAGC	0.542000														48			58		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744869	81744869	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:81744869G>A	uc010tvu.2	-	3	984	c.786C>T	c.(784-786)atC>atT	p.I262I	STON2_uc001xvk.1_Silent_p.I262I|STON2_uc010tvt.2_Silent_p.I59I	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	262					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTACATCTGGGATCACAGATG	0.458000														29			33		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407231	87407231	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:87407231G>A	uc003ujb.3	+	8	1378	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	RUNDC3B_uc011khd.1_Missense_Mutation_p.E306K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E306K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E306K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E228K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	323										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACTGGAGAAGGAACAATTAGA	0.358000														54			12		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032374	21032374	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:21032374C>T	uc010sil.2	+	8	1205	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLCO1B3_uc001rek.3_Silent_p.I380I|SLCO1B3_uc001rel.3_Silent_p.I380I|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	380					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTAGGAATCATAACCATTC	0.264000														18			3		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88428503	88428503	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:88428503G>A	uc001kdv.3	+	0	78	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	LDB3_uc010qml.1_Missense_Mutation_p.G19R|LDB3_uc010qmm.2_Missense_Mutation_p.G19R|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Missense_Mutation_p.G19R|LDB3_uc001kdr.3_Missense_Mutation_p.G19R|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.G19R|LDB3_uc001kds.3_Missense_Mutation_p.G19R	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	19	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCGTCTGCAGGGGGGCAAGGA	0.652000														50			36		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326039	68326039	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:68326039A>C	uc001onv.3	+	7	1004	c.737A>C	c.(736-738)gAa>gCa	p.E246A	PPP6R3_uc001onw.3_Missense_Mutation_p.E246A|PPP6R3_uc001ony.4_Missense_Mutation_p.E246A|PPP6R3_uc001onx.3_Missense_Mutation_p.E246A|PPP6R3_uc009ysh.3_Missense_Mutation_p.E246A|PPP6R3_uc001onu.3_Missense_Mutation_p.E246A|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	246					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.E246*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTAGGCAAGAAATTATAGAG	0.383000														29			19		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347332	135347332	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:135347332G>A	uc001lnj.1	+	5	931	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	CYP2E1_uc001lnk.1_Missense_Mutation_p.G163R|CYP2E1_uc009ybl.1_Missense_Mutation_p.G101R|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.G101R	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	300	Substrate binding (Probable).				drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTTCTTTGCGGGGACAGAGAC	0.537000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					41			37		0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97442431	97442431	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:97442431G>A	uc001klb.4	-	11	1673	c.1429C>T	c.(1429-1431)Ctc>Ttc	p.L477F	TCTN3_uc010qoi.2_Missense_Mutation_p.L329F	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	477					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TGCCTGTTGAGGATCCTGGTC	0.438000														90			57		0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19906124	19906124	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:19906124T>A	uc010eci.2	-	3	720	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y159F	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AATTTTCTTATATGTAGTACG	0.313000														12			8		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483584	45483585	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:45483584_45483585TC>CA	uc002zea.3	+	6	1125_1126	c.956_957TC>CA	c.(955-957)ctc>cCA	p.L319P	TRAPPC10_uc010gpo.3_Missense_Mutation_p.L30P	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	319					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						ACCTTGCTGCTCTTCCTGCAGA	0.574000														55			32		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627413	158627413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:158627413G>A	uc001fst.1	-	18	2858	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	887					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R887*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTAGCAGCTCGAGCACGGAGA	0.473000														91			44		0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47706966	47706966	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:47706966T>C	uc002pgc.3	+	7	1025	c.917T>C	c.(916-918)gTt>gCt	p.V306A	SAE1_uc002pgd.3_Silent_p.L258L|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.V132A|SAE1_uc002pge.3_Missense_Mutation_p.V242A	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	306					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	p.V305V(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGTGCGGTGGTTGGAGGGATT	0.458000														70			47		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106090	10106090	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:10106090G>A	uc003buw.3	+	21	2076	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	FANCD2_uc003bux.1_Silent_p.V666V|FANCD2_uc003buy.1_Silent_p.V666V|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	666					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTTCGTAGTGGACTCCTGTG	0.453000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					200			23		0	0	1	0	0
WFIKKN1	117166	broad.mit.edu	37	16	681328	681328	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:681328G>A	uc002cht.1	+	0	317	c.75G>A	c.(73-75)ggG>ggA	p.G25G	AK128777_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	25						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGCTGCCAGGGCTGGGGAGCC	0.726000														16			8		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085780	17085780	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:17085780G>A	uc010ock.2	-	7	1041	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCCGCACGTCGTCTGTACAAC	0.692000														25			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348598	140348598	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140348598G>A	uc003lii.3	+	0	2852	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.R749R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	749					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGTAAGGGAAAGGTCCC	0.458000														42			7		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996608	31996608	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31996608G>A	uc011dpd.2	+	25	3420	c.3369G>A	c.(3367-3369)gtG>gtA	p.V1123V	C4B_uc011dpe.2_Silent_p.V1123V	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1123					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCTCTCCAGTGATACATAGGA	0.592000														62			47		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698670	43698670	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:43698670G>A	uc002ovy.3	-	4	1167	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Silent_p.F262F|PSG4_uc002owb.3_Silent_p.F262F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	355	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGACTCGGCGAAGCAGGACA	0.453000														110			68		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841080	13841080	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13841080C>T	uc003jfd.2	-	33	5686	c.5644G>A	c.(5644-5646)Gaa>Aaa	p.E1882K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1882	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCACTCGTTCCGTGGAACTC	0.398000									Kartagener syndrome					42			22		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374138	113374138	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:113374138G>A	uc003eam.3	-	6	6802	c.6391C>T	c.(6391-6393)Cct>Tct	p.P2131S	KIAA2018_uc003eal.3_Missense_Mutation_p.P2075S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	2131					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATCTGATTAGGAAAATAGGGG	0.428000														46			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:21227313C>T	uc002red.3	-	27	12043	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGCGCTTTTCCTTCCCATTC	0.463000														396			187		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605621	90605621	+	Silent	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:90605621A>C	uc011eaa.2	+	0	1434	c.1434A>C	c.(1432-1434)acA>acC	p.T478T		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	478					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGCACAGAACATCAATGGTAA	0.493000														18			42		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171077319	171077319	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:171077319C>T	uc001ghi.3	+	4	695	c.584C>T	c.(583-585)tCg>tTg	p.S195L	FMO3_uc001ghh.3_Missense_Mutation_p.S195L|FMO3_uc010pmb.2_Missense_Mutation_p.S175L|FMO3_uc010pmc.2_Missense_Mutation_p.S132L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	195					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S195L(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGGGAATTCGGGCTGTGAT	0.498000														58			15		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521270	33521270	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:33521270G>A	uc002hjd.2	-	0	143	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	19						integral to membrane											GTGGAGCGGAGGGCGGCGATG	0.662000														33			21		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518359	233518359	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:233518359G>A	uc001hvt.4	+	9	3274	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	KIAA1804_uc001hvu.4_Missense_Mutation_p.E451K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	1005					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TGCTGACGTGGAAGGTCAGAG	0.512000														20			27		0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26597288	26597288	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26597288G>A	uc003nii.3	+	0	118	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	26					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TAGATGCGGAGGAGGAGCAGG	0.612000														15			12		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109438085	109438085	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:109438085G>A	uc010agk.2	+	4	1232	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MYO16_uc001vqt.1_Missense_Mutation_p.E182K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	182					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTATCTGGATGAAAATGGTAG	0.373000														27			11		0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030832	94030832	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:94030832G>A	uc003kkr.4	+	20	3072	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	ANKRD32_uc003kks.3_Missense_Mutation_p.E362K	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	998										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAGTCATAAAGAAACCACCAG	0.343000														28			7		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2832061	2832061	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:2832061G>A	uc022aqr.1	-	55	9042	c.8652C>T	c.(8650-8652)tcC>tcT	p.S2884S	CSMD1_uc011kwj.2_Silent_p.S2214S|CSMD1_uc010lrg.3_Silent_p.S895S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2885	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCTCTGCAGGAGTAGTGCA	0.587000														11			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864545	13864545	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13864545G>A	uc003jfd.2	-	27	4599	c.4557C>T	c.(4555-4557)atC>atT	p.I1519I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1519	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGCCTCCATGATATTTCTTA	0.428000									Kartagener syndrome					47			16		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656235	46656235	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:46656235C>T	uc003bhh.3	-	0	2985	c.2985G>A	c.(2983-2985)agG>agA	p.R995R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	995					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCAGAACCTCCCTAAGCACTG	0.522000														85			39		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51126160	51126160	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:51126160C>T	uc001rwv.3	+	31	3978	c.3822C>T	c.(3820-3822)atC>atT	p.I1274I	DIP2B_uc009zlt.3_Silent_p.I704I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1274						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCAGAGGGATCAACCTCTCCT	0.542000														59			28		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876129	139876130	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:139876129_139876130CC>TT	uc003lfs.2	+	14	2424_2425	c.2270_2271CC>TT	c.(2269-2271)tcc>tTT	p.S757F	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S776F|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S757F|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.S237F|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	757						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTCCAGTTCCCTCCAGGTAG	0.396000														25			24		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263725	34263725	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:34263725C>T	uc002nus.4	+	4	1537	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	CHST8_uc002nut.4_Silent_p.F344F|CHST8_uc002nuu.3_Silent_p.F344F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	344					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D343N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACTACGATTTCGTAGGCAAGT	0.622000														22			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086851	9086851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9086851G>A	uc002mkp.3	-	0	5168	c.4964C>T	c.(4963-4965)tCc>tTc	p.S1655F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1655	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGGGGAGGATGTTCCTAT	0.507000														55			30		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991690	39991690	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:39991690C>T	uc002xjy.1	-	3	743	c.519G>A	c.(517-519)agG>agA	p.R173R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	173						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGGCCTTTCCTTCCTGGGA	0.577000														2			7		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791730	41791730	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:41791730G>A	uc010lxb.3	-	17	4552	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	KAT6A_uc010lxc.3_Silent_p.P1336P|KAT6A_uc003xon.4_Silent_p.P1336P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1336					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTTCCCTCGTGGGCTGTTCCT	0.483000														96			45		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335869	127335869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:127335869C>T	uc003ejp.3	+	9	1738	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	MCM2_uc011bkm.2_Nonsense_Mutation_p.Q431*|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Nonsense_Mutation_p.Q514*	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	561	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGCGTATGTCCAGCGGCACCC	0.592000														77			62		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583725	88583725	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88583725G>A	uc003hqv.3	+	5	899	c.795G>A	c.(793-795)agG>agA	p.R265R	DMP1_uc003hqw.3_Silent_p.R249R	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	265					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATCCCAGTAGGAAAATTTTTA	0.433000														18			10		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282779	77282779	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:77282779A>C	uc004aji.3	+	7	1155	c.1106A>C	c.(1105-1107)gAg>gCg	p.E369A	RORB_uc004ajh.3_Missense_Mutation_p.E358A	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	369	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACCGAGGAGGAGATCGCTTTG	0.373000														43			31		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606139	1606139	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:1606139C>T	uc001ltu.1	-	0	375	c.341G>A	c.(340-342)gGa>gAa	p.G114E	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	114	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCTTGGATCCCCCACAAGA	0.652000														23			30		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533703	55533703	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:55533703C>T	uc003xsd.1	+	1	325	c.177C>T	c.(175-177)tcC>tcT	p.S59S	RP1_uc011ldy.1_Silent_p.S59S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	59	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCTCGCTCCTTTAAGTCCT	0.557000														45			41		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20797429	20797429	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20797429G>A	uc010vba.2	+	8	1335	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	ACSM3_uc002dhq.3_Missense_Mutation_p.M391I|ACSM3_uc002dhr.3_Missense_Mutation_p.M391I|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	391					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTAAGGGAATGAAAATTAAAC	0.353000														25			19		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27739102	27739102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27739102G>A	uc001bof.2	-	6	1013	c.788C>T	c.(787-789)tCc>tTc	p.S263F	WASF2_uc010ofl.2_Missense_Mutation_p.S263F	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	263					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding	p.S263S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTGTCCTCGGAGAAGGAAGG	0.478000														89			19		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948079	68948079	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:68948079G>A	uc001dem.4	-	7	1529	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Intron|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	471					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTTCCTCTGAATGAAGATT	0.368000														12			35		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058631	5058631	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:5058631G>A	uc002cye.2	+	13	1962	c.1782G>A	c.(1780-1782)cgG>cgA	p.R594R		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	594	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TTGTCTGCCGGGAGGGGGAGA	0.642000														57			27		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929110	31929110	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31929110C>T	uc003nyn.1	+	7	1125	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P88S|SKIV2L_uc011dov.1_Missense_Mutation_p.P53S	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	246						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTCAGCCTCTCCCTGCAGTGC	0.582000														270			168		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8841889C>T	uc010xkg.2	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000														74			50		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644982	53644982	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53644982G>A	uc002qbc.2	-	4	1529	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZNF347_uc002qbb.2_Missense_Mutation_p.H367Y|ZNF347_uc010eql.2_Missense_Mutation_p.H368Y	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCAGTATGAATTCCTCGA	0.418000														44			29		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945117	33945117	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33945117C>T	uc001bxj.4	+	1	395	c.228C>T	c.(226-228)tgC>tgT	p.C76C	ZSCAN20_uc001bxk.2_Silent_p.C76C|ZSCAN20_uc009vui.3_Silent_p.C76C	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	76	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCTCTCTGCTGTCGTTGGC	0.612000														43			18		0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599724	45599724	+	Splice_Site	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:45599724A>C	uc003bfv.1	-	5	870	c.684_splice	c.e5+1	p.R228_splice	KIAA0930_uc003bfx.1_Splice_Site_p.R219_splice|KIAA0930_uc010gzw.1_Splice_Site_p.R71_splice|KIAA0930_uc003bfw.1_Splice_Site_p.R224_splice|KIAA0930_uc010gzx.2_Splice_Site_p.R201_splice|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	219							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCCCGCACTCACCCGGTTGTC	0.642000														14			13		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815508	179815508	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:179815508G>A	uc001gnl.3	-	6	1925	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P371S	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	371						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGCCGGCAGGGAAGGATTCG	0.507000														29			21		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398272	77398272	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:77398272G>A	uc002ffc.4	-	4	1204	c.785C>T	c.(784-786)cCc>cTc	p.P262L	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	262					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGGCTTGGGAGCATCTAC	0.448000														25			15		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801946	148801946	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:148801946G>A	uc003wfj.3	-	3	1150	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	339					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)			TCTTCAGGCGGAAGCACCGGT	0.662000														81			17		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029327	25029328	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:25029327_25029328GG>AA	uc001upl.3	-	21	2691_2692	c.2585_2586CC>TT	c.(2584-2586)ccc>cTT	p.P862L	PARP4_uc010tdc.2_Missense_Mutation_p.P862L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	862					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)		CATCGAGATCGGGTTGAAAGAC	0.475000														45			29		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160579578	160579578	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:160579578C>T	uc003qtc.3	+	10	1734	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC22A1_uc003qtd.3_Missense_Mutation_p.P506S	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	543						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACACGATTTACCTTAAGGTCC	0.393000														17			21		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203839124	203839124	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:203839124C>T	uc002uzo.2	+	11	1679	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.P391S|ALS2CR8_uc010zib.1_Missense_Mutation_p.P391S|ALS2CR8_uc010zic.1_Missense_Mutation_p.P379S|ALS2CR8_uc002uzp.2_Missense_Mutation_p.P467S	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	467										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						ATCTTTTTTTCCAACTGTAAA	0.328000														177			104		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684893	146684893	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:146684893G>A	uc001epi.2	-	3	858	c.469C>T	c.(469-471)Cct>Tct	p.P157S	FMO5_uc001eph.4_Missense_Mutation_p.P157S|FMO5_uc001epj.2_Missense_Mutation_p.P157S|FMO5_uc001epk.4_Missense_Mutation_p.P157S	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	157						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTTCCAGAGGTAGATGAGCA	0.512000														91			48		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493779	170493779	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:170493779C>T	uc002uez.3	+	13	2231	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	PPIG_uc010fpx.3_Missense_Mutation_p.H656Y|PPIG_uc010fpy.3_Missense_Mutation_p.H664Y|PPIG_uc002ufb.3_Missense_Mutation_p.H671Y|PPIG_uc002ufd.3_Missense_Mutation_p.H668Y	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	671					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.D670H(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGTCGTGATCATAATAGCTC	0.353000														59			29		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769279	247769280	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247769279_247769280AC>TT	uc010pyz.2	+	0	392_393	c.392_393AC>TT	c.(391-393)cac>cTT	p.H131L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAACCCCTCCACTATGTAGTCA	0.505000														161			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073213	9073213	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9073213G>A	uc002mkp.3	-	2	14437	c.14233C>T	c.(14233-14235)Ccc>Tcc	p.P4745S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4747	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						TGAGAAGAGGGAGAGCTGGCT	0.488000														70			44		0	0	1	0	0
DNAJC17	55192	broad.mit.edu	37	15	41065983	41065983	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41065983G>A	uc001zms.2	-	9	766	c.734C>T	c.(733-735)tCc>tTc	p.S245F	DNAJC17_uc010bbz.2_Non-coding_Transcript	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	245	RRM.				protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCCAACCAGGAAATCTTCAG	0.597000														19			13		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40373974	40373974	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:40373974G>C	uc002omp.4	-	25	12112	c.12104C>G	c.(12103-12105)tCc>tGc	p.S4035C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4035	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATGCCTCCGGAGGGCTGGCA	0.637000														27			4		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605065	160605065	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:160605065C>T	uc002uax.3	+	4	1386	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	MARCH7_uc010foq.3_Missense_Mutation_p.H422Y|MARCH7_uc010zcn.2_Missense_Mutation_p.H366Y|MARCH7_uc010for.3_Missense_Mutation_p.H384Y|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	422							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATCTAGATCTCATATTTTTAG	0.428000														27			18		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:132641792C>T	uc003qdf.3	-	8	1440	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_uc003qde.3_Silent_p.T379T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T447T(4)|p.T379T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000														9			9		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173182	173182	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:173182G>A	uc003jak.2	+	15	3203	c.3153_splice	c.e15+1	p.K1051_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1051	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCCTTCAAGGTAGCACCCG	0.597000														29			14		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50368640	50368640	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:50368640G>A	uc021thx.1	-	6	1029	c.869C>T	c.(868-870)cCc>cTc	p.P290L	BRD7_uc002ege.2_Missense_Mutation_p.P290L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	290					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTTTGCTGGGACTCTTGAA	0.473000														109			56		0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121047315	121047315	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:121047315C>T	uc002tmk.3	+	3	673	c.483C>T	c.(481-483)acC>acT	p.T161T	RALB_uc010yys.2_Silent_p.T183T|RALB_uc002tml.3_Silent_p.T182T|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	161					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CAGCGAAGACCCGGGCCAACG	0.557000														13			22		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704254	113704254	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:113704254G>A	uc011lwo.2	-	1	245	c.243C>T	c.(241-243)ttC>ttT	p.F81F	LPAR1_uc004bfa.3_Silent_p.F80F|LPAR1_uc011lwm.2_Silent_p.F81F|LPAR1_uc004bfc.3_Silent_p.F80F|LPAR1_uc011lwn.2_Silent_p.F62F|LPAR1_uc004bfb.3_Silent_p.F80F|LPAR1_uc010mub.3_Silent_p.F80F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	80					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAGGAAAATGGAAGCGGCGGT	0.458000														62			37		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112608218	112608218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:112608218G>A	uc021reb.1	-	68	11965	c.11569C>T	c.(11569-11571)Cga>Tga	p.R3857*		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTCAGCACTCGATTCATCACG	0.597000														36			21		0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3832548	3832548	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:3832548C>T	uc010qxw.2	+	2	255	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PGAP2_uc001lyl.3_Missense_Mutation_p.P10S|PGAP2_uc010qxy.2_Missense_Mutation_p.T77I|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Missense_Mutation_p.T20I|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Missense_Mutation_p.T20I	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	20					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTCCGCTTCACCATGGTGGCC	0.607000														40			16		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31622797	31622797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:31622797G>A	uc011kae.2	+	8	1310	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	CCDC129_uc011kad.1_Missense_Mutation_p.G417E|CCDC129_uc003tcj.1_Missense_Mutation_p.G407E|CCDC129_uc003tci.1_Missense_Mutation_p.G258E|CCDC129_uc003tck.1_Missense_Mutation_p.G315E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	407										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGACTTCAGGAACTGTAGGT	0.318000														161			36		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81641879	81641879	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:81641879C>T	uc021ssk.1	-	10	1113	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	TMC3_uc021ssj.1_Missense_Mutation_p.M371I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.M371I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	371						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGGTGCTATCATGGTGACGA	0.572000														14			7		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330436	125330436	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125330436G>A	uc004bmp.1	-	0	321	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTTGCCCAAGGCATAGAGAA	0.507000														39			19		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183815	76183815	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:76183815C>T	uc001oxl.3	+	7	1182	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	C11orf30_uc009yuj.1_Missense_Mutation_p.P362S|C11orf30_uc010rsa.1_Missense_Mutation_p.P297S|C11orf30_uc001oxm.3_Missense_Mutation_p.P348S|C11orf30_uc010rsb.2_Missense_Mutation_p.P362S|C11orf30_uc010rsc.2_Missense_Mutation_p.P362S|C11orf30_uc001oxn.3_Missense_Mutation_p.P348S|C11orf30_uc010rsd.2_Missense_Mutation_p.P361S	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	347	Interaction with BRCA2.|Ser-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCACCTATTCCTAATACAGT	0.453000														52			31		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64494361	64494361	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:64494361C>T	uc001xgl.3	+	42	6794	c.6564C>T	c.(6562-6564)ttC>ttT	p.F2188F	SYNE2_uc001xgm.3_Silent_p.F2188F|SYNE2_uc021ruh.1_Silent_p.F2188F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2188					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATAAGAAATTCCTCAAGAAAG	0.398000														15			27		0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35741007	35741007	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:35741007C>T	uc011lpd.2	-	5	1358	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	GBA2_uc003zxw.3_Missense_Mutation_p.E281K|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.E281K|GBA2_uc011lpc.1_Missense_Mutation_p.E281K|GBA2_uc003zxy.1_5'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	281					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTAGAGCTTCGTCCCCTTCA	0.567000														23			17		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000222	56000222	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:56000222C>T	uc010rjc.2	-	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCTGTGGTTCCAAAACTACA	0.408000														78			32		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169327157	169327157	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:169327157C>T	uc021xuh.1	-	22	3267	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	DDX60L_uc003irq.4_Missense_Mutation_p.E1053K|DDX60L_uc003irr.1_Missense_Mutation_p.E1053K|DDX60L_uc003irs.1_Missense_Mutation_p.E748K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1053							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAGTTTTCTTCATATTTTCTA	0.303000														15			7		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947754	47947754	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:47947754G>A	uc003tny.2	-	8	1356	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	441					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCAGACACGGCCTCATGGCC	0.453000														28			30		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736451	27736451	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27736451G>A	uc001bof.2	-	7	1299	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	358					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CAAAATCAGGGTGAGGTGGGA	0.622000														86			32		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086346	171086346	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:171086346C>T	uc001ghi.3	+	8	1474	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	FMO3_uc001ghh.3_Missense_Mutation_p.P455S|FMO3_uc010pmb.2_Missense_Mutation_p.P435S|FMO3_uc010pmc.2_Missense_Mutation_p.P392S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	455					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTCACAGATCCCAAATTGGC	0.493000														46			32		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911323	150911323	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:150911323C>T	uc003eyp.3	+	13	2144	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	MED12L_uc011bnz.2_Missense_Mutation_p.S532L|MED12L_uc003eyn.3_Missense_Mutation_p.S707L|MED12L_uc003eyo.3_Missense_Mutation_p.S672L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	672					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAACACTTCGTTGGGCAGA	0.388000														32			10		0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77212886	77212886	+	Silent	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:77212886A>C	uc003ugh.2	+	3	391	c.300A>C	c.(298-300)ccA>ccC	p.P100P	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_Non-coding_Transcript|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	100	Tyrosine-protein phosphatase.					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTATGGGCCAAAAGCATATG	0.299000														17			25		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513464	4513464	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:4513464C>T	uc002mar.1	-	2	466	c.466G>A	c.(466-468)Gac>Aac	p.D156N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	156	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GACACCGTGTCCTTGGTGCCG	0.647000														27			22		0	0	1	0	0
GOLGA8E	390535	broad.mit.edu	37	15	23443566	23443566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:23443566C>T	uc001yvu.3	+	12	1667	c.652C>T	c.(652-654)Cct>Tct	p.P218S	JA429730_uc021sfs.1_5'Flank					Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA.											endometrium(1)|kidney(1)|lung(3)|skin(1)	6		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)		CATGGCTCTCCCTGGGGAAGG	0.597000														5			11		0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430207	45430207	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:45430207C>G	uc001jbn.2	+	4	650	c.453C>G	c.(451-453)gaC>gaG	p.D151E	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.D33E	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	151						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGTACACAGACCCCTCTAGCA	0.612000														80			54		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879332	32879333	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:32879332_32879333GG>AA	uc002xai.3	-	4	589_590	c.450_451CC>TT	c.(448-453)atccga>atTTga	p.R151*	AHCY_uc002xaj.3_Nonsense_Mutation_p.R123*	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	151					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGATGCCTCGGATGCCTAAAC	0.525000														35			30		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10097023	10097023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:10097023C>T	uc002mmq.1	-	29	2406	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	774	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCCCCTCCTCGCCAGCCTGC	0.617000														12			7		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052973	44052973	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:44052973C>T	uc001jaw.4	-	1	1208	c.555G>A	c.(553-555)ggG>ggA	p.G185G	ZNF239_uc001jax.4_Silent_p.G185G|ZNF239_uc009xmj.3_Silent_p.G185G|ZNF239_uc009xmk.3_Silent_p.G185G|ZNF239_uc021pph.1_Silent_p.G185G	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAGTATTTTCCCACAGTTAT	0.423000														50			37		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878033	44878033	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:44878033C>T	uc001clv.1	+	1	624	c.264C>T	c.(262-264)ttC>ttT	p.F88F	RNF220_uc001clw.1_Silent_p.F88F	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ATCGTGATTTCCCCCCTTCTC	0.512000														194			203		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24034700	24034700	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:24034700G>A	uc002zxo.3	+	1	1615	c.358G>A	c.(358-360)Gag>Aag	p.E120K	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.E120K|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	120	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGAGCCCAACGAGGCCAAGCC	0.567000														27			16		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26506938	26506938	+	Nonsense_Mutation	SNP	G	A	A	rs144262313		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26506938G>A	uc003nif.4	+	3	794	c.737G>A	c.(736-738)tGg>tAg	p.W246*		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	246						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTGACTCCCTGGATAGTGGCT	0.463000														133			71		0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175962288	175962288	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:175962288G>A	uc002ujl.3	-	10	1124	c.862C>T	c.(862-864)Cca>Tca	p.P288S	ATF2_uc002ujv.3_Missense_Mutation_p.P35S|ATF2_uc002ujm.3_Missense_Mutation_p.P230S|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.P288S|ATF2_uc010fqu.3_Missense_Mutation_p.P270S|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.P230S|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.P239S|ATF2_uc002ujw.1_Missense_Mutation_p.P230S|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	288					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTGGTAACTGGAGGATGTTGC	0.413000														43			22		0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223168937	223168937	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:223168937C>T	uc021vxg.1	+	0	316	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CCDC140_uc002vnb.1_Missense_Mutation_p.R106W	NM_153038	NP_694583	Q96MF4	CC140_HUMAN	Homo sapiens coiled-coil domain containing 140 (CCDC140), mRNA.	106										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACTCCACCCGGGCGTCTCC	0.627000														20			15		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785008	10785008	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:10785008C>T	uc001mja.3	+	7	1029	c.880C>T	c.(880-882)Cat>Tat	p.H294Y		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	294					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTGGCCCTCCATGCATTCCA	0.383000														22			10		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:237947421G>A	uc001hyl.1	+	89	12529	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_uc010pya.2_Missense_Mutation_p.E552K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.M4137I(1)|p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512000														15			81		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668888	48668888	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:48668888C>T	uc002irk.1	+	10	2918	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	CACNA1G_uc002iri.1_Missense_Mutation_p.P849L|CACNA1G_uc002irj.1_Missense_Mutation_p.P849L|CACNA1G_uc002irl.1_Missense_Mutation_p.P849L|CACNA1G_uc002irm.1_Missense_Mutation_p.P849L|CACNA1G_uc002irn.1_Missense_Mutation_p.P849L|CACNA1G_uc002iro.1_Missense_Mutation_p.P849L|CACNA1G_uc002irp.1_Missense_Mutation_p.P849L|CACNA1G_uc002irq.1_Missense_Mutation_p.P849L|CACNA1G_uc002irr.1_Missense_Mutation_p.P849L|CACNA1G_uc002irs.1_Missense_Mutation_p.P849L|CACNA1G_uc002irt.1_Missense_Mutation_p.P849L|CACNA1G_uc002iru.1_Missense_Mutation_p.P849L|CACNA1G_uc002irv.1_Missense_Mutation_p.P849L|CACNA1G_uc002irw.1_Missense_Mutation_p.P849L|CACNA1G_uc002irx.1_Missense_Mutation_p.P762L|CACNA1G_uc002iry.1_Missense_Mutation_p.P762L|CACNA1G_uc002isg.1_Missense_Mutation_p.P762L|CACNA1G_uc002ish.1_Missense_Mutation_p.P762L|CACNA1G_uc002isi.1_Missense_Mutation_p.P762L|CACNA1G_uc002irz.1_Missense_Mutation_p.P762L|CACNA1G_uc002isa.1_Missense_Mutation_p.P762L|CACNA1G_uc002isd.1_Missense_Mutation_p.P762L|CACNA1G_uc002isb.1_Missense_Mutation_p.P762L|CACNA1G_uc002isc.1_Missense_Mutation_p.P762L|CACNA1G_uc002ise.1_Missense_Mutation_p.P762L|CACNA1G_uc002isf.1_Missense_Mutation_p.P762L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	849					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCTTCCTGCCGGCGCTGCAG	0.627000														19			7		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414891	88414891	+	Missense_Mutation	SNP	C	T	T	rs143716987		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88414891C>T	uc010ikm.3	-	4	1633	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	SPARCL1_uc011cdc.2_Missense_Mutation_p.R229K|SPARCL1_uc003hqs.4_Missense_Mutation_p.R354K|SPARCL1_uc011cdd.2_Missense_Mutation_p.R229K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	354					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGCACTGTGCCTGGGGCCATC	0.507000														35			17		0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371962	34371962	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:34371962G>A	uc003zue.4	-	2	1144	c.977C>T	c.(976-978)gCc>gTc	p.A326V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	327					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGTCCACGGCGCGCCCGTA	0.587000														46			17		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292970	130292971	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:130292970_130292971CC>TT	uc010htl.3	+	6	3179_3180	c.3148_3149CC>TT	c.(3148-3150)ccg>TTg	p.P1050L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1050	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.P1050Q(2)|p.H1049Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TACCTATCACCCGGAGTTTCCA	0.436000														27			12		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120362534	120362534	+	Missense_Mutation	SNP	G	A	A	rs141477875		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:120362534G>A	uc002tmb.3	+	10	1249	c.137G>A	c.(136-138)gGa>gAa	p.G46E	PCDP1_uc010yyq.2_Missense_Mutation_p.G176E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	332						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGAACCAGGAAAATTGAAG	0.383000														70			29		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31447636	31447636	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:31447636G>A	uc001bsi.1	-	9	1481	c.1368C>T	c.(1366-1368)gtC>gtT	p.V456V	PUM1_uc001bsf.1_Silent_p.V122V|PUM1_uc001bsh.1_Silent_p.V456V|PUM1_uc001bsj.1_Silent_p.V457V|PUM1_uc010oga.1_Silent_p.V360V|PUM1_uc001bsk.1_Silent_p.V492V|PUM1_uc010ogb.1_Silent_p.V397V	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	456	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGGTGAGGGACCACAGCTG	0.473000														26			10		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2808366	2808366	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:2808366C>T	uc002lwj.3	+	8	1534	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	THOP1_uc010xgz.2_Missense_Mutation_p.P339L|THOP1_uc002lwk.3_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	460					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGACGCGCCCTCGCTGCTG	0.682000														13			4		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55509558	55509558	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55509558G>A	uc001cyf.2	+	1	612	c.250G>A	c.(250-252)Gag>Aag	p.E84K	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	84					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGCTGAAGGAGGAGACCCA	0.622000														336			132		0	0	1	0	0
H19	283120	broad.mit.edu	37	11	2016763	2016763	+	RNA	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:2016763C>T	uc021qbx.1	-	0		c.41G>A			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		GGCTTTGAATCTCTCAGAAAA	0.488000									Beckwith-Wiedemann syndrome					17			4		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969759	160969759	+	Missense_Mutation	SNP	G	A	A	rs144466757		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:160969759G>A	uc009wtt.3	-	5	871	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	F11R_uc010pjv.2_Missense_Mutation_p.P152S|F11R_uc010pjw.2_Missense_Mutation_p.P205S|F11R_uc001fxf.4_Missense_Mutation_p.P201S	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	201	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		p.D200H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GCTGACAGGGGATCAAAGACC	0.473000														8			43		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062149	107062149	+	RNA	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:107062149C>G	uc021ser.1	-	150		c.6837G>C								Parts of antibodies, mostly variable regions.																		AATACACGGCCGTGTCCGCGG	0.577000														35			50		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925345	89925345	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:89925345T>G	uc003kju.3	+	8	1924	c.1828T>G	c.(1828-1830)Ttt>Gtt	p.F610V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	610					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		tggagctcactttctagtaca	0.318000														38			20		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119748183	119748183	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:119748183G>A	uc002tln.1	+	12	1214	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	MARCO_uc010yyf.1_Missense_Mutation_p.G283E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	361	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGACAGCAAGGAAGAAAAGGA	0.468000														38			25		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68650907	68650907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:68650907C>T	uc010bib.3	-	5	576	c.489G>A	c.(487-489)atG>atA	p.M163I	ITGA11_uc002ari.3_Missense_Mutation_p.M163I	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	163					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.M163I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGACGATGTCCATGTAGGTCT	0.502000														17			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174819	140174819	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140174819C>T	uc003lhd.2	+	0	376	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.I90I|PCDHAC2_uc011czy.2_Silent_p.I90I	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.587000														113			19		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300532	62300532	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62300532C>A	uc001ntl.3	-	4	1657	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	453					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCAGTGTCACATCAATCCCA	0.517000														52			37		1.69901e-12	1.72075e-12	1	1	0
WASF3	10810	broad.mit.edu	37	13	27241696	27241696	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:27241696C>T	uc001uqv.3	+	4	536	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WASF3_uc001uqw.3_Missense_Mutation_p.S104F	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	104					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCAAAAGTTCCACAGTCCAA	0.373000														38			20		0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025477	202025477	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:202025477C>T	uc002uxb.4	+	8	1581	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	CFLAR_uc010zhk.2_Silent_p.L276L|CFLAR_uc010zhl.2_Silent_p.L276L|CFLAR_uc002uxc.4_Silent_p.L337L|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Silent_p.L372L|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Silent_p.L372L|CFLAR_uc010zhm.2_Silent_p.L276L|CFLAR_uc010fsz.3_Silent_p.L127L|CFLAR_uc002uxg.3_Silent_p.L127L|CFLAR-AS1_uc002uxh.1_5'Flank	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	372	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.			L -> F (in Ref. 6; AAB99793).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACAGCAGCCTCTTGGAGGTGG	0.512000														30			21		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42424886	42424886	+	Silent	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:42424886G>C	uc003gwr.2	-	34	3475	c.3243C>G	c.(3241-3243)gtC>gtG	p.V1081V	ATP8A1_uc003gwq.2_Silent_p.V307V|ATP8A1_uc003gws.2_Silent_p.V1066V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1081					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAACTTCATCGACCAATGTTT	0.358000														85			42		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73805957	73805958	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:73805957_73805958CC>GT	uc002jpm.3	+	2	449_450	c.449_450CC>GT	c.(448-450)tcc>tGT	p.S150C	UNK_uc021udd.1_Missense_Mutation_p.S74C	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	74							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCGCCGGTCCATCCGCCGTC	0.624000														35			10		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756761	54756761	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:54756761G>A	uc021qyp.1	-	0	875	c.875C>T	c.(874-876)cCa>cTa	p.P292L	GPR84_uc001sfu.3_Missense_Mutation_p.P292L	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	292						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGATGCTTCTGGAGGGCTTTT	0.522000														92			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066340	9066340	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9066340G>A	uc002mkp.3	-	2	21310	c.21106C>T	c.(21106-21108)Cct>Tct	p.P7036S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7038	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						GACCCAGAAGGACCTGTTTGA	0.478000														112			74		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994874	39994874	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:39994874C>T	uc002olx.2	+	4	874	c.816C>T	c.(814-816)gtC>gtT	p.V272V	DLL3_uc010egq.3_Silent_p.V272V|DLL3_uc002olw.2_Silent_p.V272V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	272					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGCCTTGTCCCTGGGCCTG	0.642000														41			25		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774560	85774560	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:85774560C>T	uc003yct.4	+	5	616	c.482C>T	c.(481-483)cCa>cTa	p.P161L	RALYL_uc003ycq.4_Missense_Mutation_p.P148L|RALYL_uc003ycr.4_Missense_Mutation_p.P148L|RALYL_uc003ycs.4_Missense_Mutation_p.P148L|RALYL_uc010lzy.3_Missense_Mutation_p.P137L|RALYL_uc003ycu.4_Missense_Mutation_p.P75L	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	148							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGTGTGCCTCCACCTCCCCGT	0.488000														24			8		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509723	106509723	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:106509723G>A	uc003vdv.4	+	1	1802	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E573K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E573K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	573					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAGGACAAAGAATTGCTCTG	0.473000														47			15		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885838	38885838	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:38885838G>A	uc021yzh.1	+	69	10555	c.10446G>A	c.(10444-10446)ggG>ggA	p.G3482G	DNAH8_uc003ooe.2_Silent_p.G3265G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGTCTGTGGGAATGTGGCTG	0.388000														43			16		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971116	21971116	+	Missense_Mutation	SNP	G	A	A	rs11552823		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:21971116G>A	uc003zpk.3	-	1	548	c.242C>T	c.(241-243)cCc>cTc	p.P81L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P81L|CDKN2A_uc003zpl.3_Silent_p.T95T	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	81			P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P81L(16)|p.P81H(4)|p.R80Q(2)|p.E61_L94del(2)|p.P81_A85del(2)|p.R80fs*34(2)|p.R80?(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.R80fs*66(1)|p.P81S(1)|p.A76fs*64(1)|p.P81fs*38(1)|p.A68fs*3(1)|p.R80L(1)|p.P81T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCGTGCACGGGTCGGGTGAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				31			55		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658918	8658918	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:8658918G>A	uc010cnz.1	-	3	582	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	135										breast(1)|endometrium(2)|kidney(1)	4						CCATAGCCAGGAGATACTGAT	0.522000														29			34		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610257	47610257	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47610257C>T	uc001cqv.1	+	7	984	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CYP4A22_uc009vyo.3_Silent_p.L311L|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	311						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAAGGACCTCCGTGCTGAGG	0.552000														105			45		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103907	168103907	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168103907G>A	uc002udx.3	+	8	6094	c.6005G>A	c.(6004-6006)gGg>gAg	p.G2002E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1827E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1780E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1827					actin cytoskeleton organization	cell junction	actin binding	p.M2001I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAACTATGGGGAAATCTTGC	0.453000														34			22		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620541	20620541	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:20620541G>A	uc003gpr.1	+	36	4703	c.4499G>A	c.(4498-4500)cGg>cAg	p.R1500Q	SLIT2_uc003gps.1_Missense_Mutation_p.R1492Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1500	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGCAAGCGGCGGAAATACTCT	0.557000														34			14		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98567828	98567828	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98567828G>A	uc003upp.3	+	50	7794	c.7585G>A	c.(7585-7587)Gat>Aat	p.D2529N	TRRAP_uc011kis.2_Missense_Mutation_p.D2511N|TRRAP_uc003upr.3_Missense_Mutation_p.D2228N	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2529					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACCTGGCCGATAGCCACGA	0.627000														88			28		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801065	154801065	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:154801065C>T	uc002tyt.4	+	0	159	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	GALNT13_uc002tyr.4_Missense_Mutation_p.L19F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	19						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATGTGGGTTCTTGTTGATGT	0.423000														74			57		0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80151902	80151902	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:80151902G>A	uc002kdx.1	-	4	769	c.732C>T	c.(730-732)agC>agT	p.S244S	CCDC57_uc002kdz.1_Silent_p.S244S	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	244										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCCCGGCTCGGCTCTGGAGCT	0.672000														23			27		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:91347528C>T	uc001tbj.3	-	0	1426	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	331	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcctctccctcctccac	0.547000														23			13		0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591839	591839	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:591839T>A	uc004cph.1	+	1	898	c.207T>A	c.(205-207)caT>caA	p.H69Q	SHOX_uc004cpi.3_Missense_Mutation_p.H69Q	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	69					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V68E(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCGGTGCATTTGTTCAAGG	0.612000														85			41		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161517	151161517	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:151161517A>G	uc011eem.1	+	15	3908	c.3820A>G	c.(3820-3822)Agg>Ggg	p.R1274G	PLEKHG1_uc003qny.1_Missense_Mutation_p.R1215G	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1215					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAGAAGTTCAAGGTGTGAGAG	0.468000														19			33		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748500	43748500	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:43748500G>A	uc001zrs.3	-	11	2439	c.2291C>T	c.(2290-2292)cCa>cTa	p.P764L	TP53BP1_uc010udp.2_Missense_Mutation_p.P764L|TP53BP1_uc001zrq.4_Missense_Mutation_p.P769L|TP53BP1_uc001zrr.4_Missense_Mutation_p.P769L|TP53BP1_uc010udq.1_Missense_Mutation_p.P769L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	764					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)		TCTGGGAGATGGCTCTTTCAC	0.448000								Other conserved DNA damage response genes						28			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873951	36873951	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:36873951C>T	uc003cgj.3	-	20	7239	c.6991G>A	c.(6991-6993)Ggg>Agg	p.G2331R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2331					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCCTCTCCCCCTGCCCCTT	0.502000														70			47		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741474	57741474	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57741474G>A	uc002emi.3	+	6	1050	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CCDC135_uc002emj.3_Missense_Mutation_p.D321N|CCDC135_uc002emk.3_Missense_Mutation_p.D256N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	321						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTCTTCATCGACCCATTCAC	0.572000														41			20		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98129906	98129906	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:98129906C>T	uc001kml.2	-	19	3070	c.2829G>A	c.(2827-2829)gaG>gaA	p.E943E		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	943	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCAGTCGGCCTCCTCCTCAA	0.637000														29			23		0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585993	158585993	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:158585993G>A	uc010jiq.2	-	10	1917	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	RNF145_uc011ddy.2_Silent_p.G573G|RNF145_uc003lxo.2_Silent_p.G587G|RNF145_uc011ddz.2_Silent_p.G576G|RNF145_uc003lxp.3_Silent_p.G559G|RNF145_uc021ygv.1_Non-coding_Transcript	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	559						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTAAGACAGCCTGCATGGA	0.453000														24			4		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004299	40004299	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:40004299G>C	uc010cxr.3	+	4	1709	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	KLHL10_uc010wfw.2_Missense_Mutation_p.E435Q	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	523						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTTTGGCATCGAGGTGGTGGA	0.473000														59			31		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851608	134851608	+	Silent	SNP	C	T	T	rs113043235		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:134851608C>T	uc003eqt.3	+	4	1389	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.S227L|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	338	Fibronectin type-III 1.					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						AGACGTCCATCATTCTGGAGT	0.562000														26			16		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223553	154223553	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:154223553C>T	uc001fep.4	+	12	1417	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	UBAP2L_uc009wot.3_Missense_Mutation_p.P417L|UBAP2L_uc010pek.2_Missense_Mutation_p.P409L|UBAP2L_uc010pel.2_Missense_Mutation_p.P427L|UBAP2L_uc010pen.2_Missense_Mutation_p.P331L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	417					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGCACAGCCCCTTTACAAAG	0.483000														63			40		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78437243	78437243	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:78437243G>A	uc001ozl.4	-	22	3894	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1144					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATCTGGGCAGGATTCATATTC	0.468000														111			71		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057485	5057485	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:5057485G>A	uc002cye.2	+	12	1750	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	524	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGCCCCCCACGAGGTGCCAGG	0.607000														19			15		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7669791	7669791	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:7669791C>T	uc002giu.1	+	20	3681	c.3667C>T	c.(3667-3669)Ctg>Ttg	p.L1223L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1223	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCAGAACCTGGAGAAGGT	0.587000														9			11		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543356	182543356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:182543356C>T	uc021vto.1	-	0	232	c.232G>A	c.(232-234)Gat>Aat	p.D78N	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.D78N|NEUROD1_uc021vtn.1_Missense_Mutation_p.D78N	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	78					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGCTTTTGATCGTCAtcctcc	0.547000														317			127		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271698	1271698	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:1271698C>T	uc001lta.3	+	30	13647	c.13588C>T	c.(13588-13590)Ctg>Ttg	p.L4530L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4530	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCTCCCTGGGCACCAC	0.627000														47			37		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655574	55655574	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:55655574G>A	uc010rip.2	+	3	666	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	TRIM51_uc010riq.2_Missense_Mutation_p.E49K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	192						intracellular	zinc ion binding										ATTTCTCCATGAAGAAGAGCA	0.413000														29			11		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981529	70981529	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:70981529C>T	uc003xym.3	-	1	769	c.567G>A	c.(565-567)ggG>ggA	p.G189G		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	189					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)			CAGGGGACTTCCCTTCTTGGT	0.587000														29			35		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664178	196664178	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:196664178C>T	uc002utj.4	-	54	10296	c.10195G>A	c.(10195-10197)Gaa>Aaa	p.E3399K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3399	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTATAAATTCCTGCAACATT	0.363000														85			33		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654341	61654341	+	Silent	SNP	C	T	T	rs146858814		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:61654341C>T	uc002ljv.3	+	6	1123	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SERPINB8_uc002lju.3_Silent_p.F318F|SERPINB8_uc010xex.2_Silent_p.F136F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	318					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ACAAGTGCTTCGTGGAGGTCA	0.527000														25			13		0	0	1	0	0
PEBP4	157310	broad.mit.edu	37	8	22777733	22777733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:22777733C>T	uc003xcn.1	-	2	314	c.222G>A	c.(220-222)tgG>tgA	p.W74*		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	74						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCGGCTCCATCCAGGAGGTGA	0.537000														31			10		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388762	4388762	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4388762C>T	uc010qye.2	-	0	855	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCCAGACCCATAAAAGAG	0.493000														56			26		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402384	47402384	+	Silent	SNP	G	A	A	rs9333005	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47402384G>A	uc001cqp.4	-	3	513	c.462C>T	c.(460-462)atC>atT	p.I154I	CYP4A11_uc001cqq.2_Silent_p.I154I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	154					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGGCTTCAGGATGTCATAGT	0.547000														35			40		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55472806	55472806	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55472806G>A	uc001cye.3	+	2	652	c.409G>A	c.(409-411)Ggg>Agg	p.G137R		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	137						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCCTGAGATGGGGCAGCCGAA	0.612000														67			24		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529680	5529680	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5529680C>T	uc021qcw.1	-	0	1109	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S370N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	370								p.S370I(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTCCTGGCTTTGGCTGAG	0.542000														127			58		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815087	106815087	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:106815087C>T	uc003ymd.3	+	7	2800	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S657F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	926					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGCAGCCTTCCCCCAATGGA	0.423000														22			12		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507330	74507330	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74507330C>T	uc001dfy.4	-	6	1477	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	429										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTTTTGTTCTGTGTAATAT	0.363000														19			56		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958119	57958119	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:57958119C>T	uc010rka.2	+	0	214	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R53H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCGTGGCGATCGTCGGCTCCA	0.527000														16			18		0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128139	233128139	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:233128139C>T	uc010fxz.3	+	12	1924	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	550							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGGCGCACTTCGTTTGGATCA	0.542000														24			15		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297475	36297475	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36297475C>T	uc002obx.1	-	7	1104	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	362					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTGCATCCCTCCCCAGCC	0.632000														70			33		0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39138698	39138698	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:39138698G>A	uc010cxh.1	-	4	709	c.548C>T	c.(547-549)tCc>tTc	p.S183F	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	183	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527000														52			28		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128840	89128840	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:89128840G>A	uc003yeb.4	-	5	1261	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	327					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R327Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTTGGAGGCCGAGGAGGTTTT	0.522000														111			41		0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59763177	59763177	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:59763177G>A	uc021ulb.1	-	19	2116	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	PIGN_uc021ulc.1_Missense_Mutation_p.S321F|PIGN_uc021uld.1_Missense_Mutation_p.S321F	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	695					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CACAACCAAGGAAGAGGCTGC	0.453000														12			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025674	18025674	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:18025674C>T	uc021trm.1	+	0	3779	c.3560C>T	c.(3559-3561)tCc>tTc	p.S1187F	MYO15A_uc021trl.1_Missense_Mutation_p.S1187F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1187	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCTGCCTGTCCCTTAGGGGC	0.637000														12			21		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39125506	39125506	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:39125506G>A	uc003thb.2	+	2	208	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	POU6F2_uc022acb.1_Missense_Mutation_p.R22Q|POU6F2_uc010kxo.3_Missense_Mutation_p.R14Q	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	22					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGTCAGTGCGGAGTGAAATG	0.502000														17			25		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10943004	10943004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:10943004G>A	uc002yip.1	-	11	951	c.583C>T	c.(583-585)Cga>Tga	p.R195*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R177*|TPTE_uc002yir.1_Nonsense_Mutation_p.R157*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R57*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	195			R -> Q (in dbSNP:rs1810856).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R177*(2)|p.R195K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTAGAAGTCGAAGTAAATGT	0.308000														21			10		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557277	95557277	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:95557277C>T	uc001kjc.4	+	7	1727	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.S416L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	464					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAGGCTCCTCGTTCCAGGAT	0.443000														34			22		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945791	45945791	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:45945791C>T	uc001nbv.1	+	3	566	c.455C>T	c.(454-456)gCt>gTt	p.A152V	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A121V|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A152V	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	152					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGGTGCCTGCTGTCCGTGTC	0.597000														51			25		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409134	39409134	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:39409134C>T	uc003gua.3	+	0	662	c.565C>T	c.(565-567)Cct>Tct	p.P189S	KLB_uc011byj.2_Missense_Mutation_p.P189S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	189	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAACATTGAACCTATAGTTAC	0.413000														36			22		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539831	56539831	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56539831C>T	uc002qmj.3	+	6	2232	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	NLRP5_uc002qmi.3_Silent_p.F725F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	744						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGGGATCTTCCCAAGAGATG	0.517000														135			74		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424192	69424192	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:69424192G>A	uc004dxx.1	+	5	782	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	229					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGGTGAGAACGAAGTTTTCAA	0.468000														2			17		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138456734	138456734	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:138456734G>A	uc003ldo.3	-	3	440	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SIL1_uc003ldp.3_Silent_p.A78A	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	78	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGGCTGAAGGGCCTGCCACT	0.552000									Marinesco-Sjgren syndrome					33			41		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389492	20389492	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:20389492C>T	uc010tkw.2	+	0	727	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGCTTCCCATATTGCAGT	0.403000														37			51		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091221	143091222	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:143091221_143091222GG>AA	uc003qjd.3	-	4	5397_5398	c.4654_4655CC>TT	c.(4654-4656)ccg>TTg	p.P1552L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1552	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCTGCCCCGGAAGTGGTGCC	0.540000														10			23		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666872	30666872	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:30666872C>A	uc002dyy.3	+	9	1622	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	PRR14_uc002dyz.3_Missense_Mutation_p.P300H|PRR14_uc002dza.3_Missense_Mutation_p.P455H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	455										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAGCCCGTCCTCAGCTAAAC	0.547000														24			3		0.115264	0.115601	1	1	0
HIP1R	9026	broad.mit.edu	37	12	123339876	123339876	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:123339876C>T	uc001udj.1	+	10	976	c.917C>T	c.(916-918)cCc>cTc	p.P306L	HIP1R_uc001udg.1_Missense_Mutation_p.P294L|HIP1R_uc001udi.1_Missense_Mutation_p.P306L|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	306					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GTGGTGATCCCCGAGGAGGCC	0.687000														8			5		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774560	12774561	+	Missense_Mutation	DNP	CC	TT	TT	rs11554970		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:12774560_12774561CC>TT	uc002mub.2	-	4	795_796	c.719_720GG>AA	c.(718-720)cgg>cAA	p.R240Q	MAN2B1_uc010dyv.1_Missense_Mutation_p.R240Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	240					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGTGCTGGCCCGCCACACCTG	0.619000														17			10		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11326104	11326104	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:11326104C>T	uc002mqs.4	-	31	4106	c.4065G>A	c.(4063-4065)aaG>aaA	p.K1355K	DOCK6_uc010xlq.2_Silent_p.K694K	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1355					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GTGTGACGCTCTTCCGCCAGC	0.582000														20			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535604	110535604	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110535604C>T	uc003yne.3	+	75	12577	c.12473C>T	c.(12472-12474)cCc>cTc	p.P4158L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4158					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCTTACTCCCCTTAGAACA	0.393000										HNSCC(38;0.096)				90			33		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241715312	241715312	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:241715312G>A	uc010fzk.3	-	10	1161	c.914C>T	c.(913-915)cCg>cTg	p.P305L	KIF1A_uc002vzy.3_Missense_Mutation_p.P305L|KIF1A_uc002vzz.2_Missense_Mutation_p.P305L	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	305	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCTCGGTACGGAATGAAATC	0.572000														22			21		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362054	98362054	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:98362054C>T	uc001kmq.3	-	15	2471	c.2343G>A	c.(2341-2343)ccG>ccA	p.P781P	PIK3AP1_uc001kmo.3_Silent_p.P380P|PIK3AP1_uc001kmp.3_Silent_p.P603P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	781	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGCAGCTCTCGGAGGCACCC	0.507000														38			23		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766887	57766887	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:57766887C>T	uc002yan.3	+	0	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	271						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCAGGGTCCGCATTTGCCG	0.642000														58			38		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408769	141408769	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:141408769G>A	uc003vwn.2	+	0	617	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	71					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACATCTTCGGAAAAAGACAA	0.517000														107			112		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049231	36049231	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:36049231C>T	uc003jjz.2	-	3	735	c.603G>A	c.(601-603)gtG>gtA	p.V201V	UGT3A2_uc011cos.2_Silent_p.V167V|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	201						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAATTCTTCACTCGGCCCC	0.458000														37			21		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863067	55863067	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:55863067A>T	uc010spn.2	-	0	856	c.856T>A	c.(856-858)Ttt>Att	p.F286I		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GTATAAATAAATGGGTTTAAC	0.343000														35			22		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49803098	49803098	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:49803098C>T	uc003ozw.2	-	7	760	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CRISP1_uc003ozx.2_3'UTR|CRISP1_uc021zaj.1_Silent_p.L227L	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	227					fusion of sperm to egg plasma membrane	extracellular space		p.L227L(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGTTGCATCCCAGATAATGGA	0.363000														19			27		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189854129	189854129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:189854129C>T	uc002uqj.1	+	7	761	c.644C>T	c.(643-645)cCa>cTa	p.P215L	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	215	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGGGCCCTCCAGGACCTCCT	0.338000														8			5		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118846	165118846	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:165118846C>T	uc011cjk.2	-	0	18	c.18G>A	c.(16-18)cgG>cgA	p.R6R	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	6										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CTGAATGAATCCGTCTGCCCA	0.552000														59			35		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993005	21993005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:21993005G>A	uc001wbe.3	-	1	1139	c.857C>T	c.(856-858)cCt>cTt	p.P286L	SALL2_uc010tly.2_Missense_Mutation_p.P284L|SALL2_uc010tlz.1_Missense_Mutation_p.P149L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P151L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	286							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGCAGAGAAAGGATGCTGTGA	0.602000														16			19		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851472	34851472	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:34851472G>A	uc003teh.1	+	3	603	c.475G>A	c.(475-477)Gga>Aga	p.G159R	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G159R|NPSR1_uc010kwt.1_Missense_Mutation_p.G6R|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.G159R|NPSR1_uc010kww.1_Missense_Mutation_p.G148R|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	159						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTTCCTTCAAGGAGGTGAGCT	0.448000														103			31		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8991724	8991724	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:8991724C>T	uc001quz.4	+	9	1084	c.986C>T	c.(985-987)gCc>gTc	p.A329V		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	173						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAGGCCAATGCCACTCAGAAT	0.423000														22			17		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30899736	30899736	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:30899736G>A	uc003aid.2	-	1	158	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SEC14L4_uc011akz.1_Missense_Mutation_p.R20W|SEC14L4_uc003aie.2_5'UTR|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	20						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGTTCTCCCGGAACTGAGCG	0.627000														40			15		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957823	74957823	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74957823C>T	uc001dge.2	+	24	2594	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P742S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	742						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GTCTCTCTCACCTTCTTCTTC	0.473000														41			120		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222635	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:231222634_231222635CC>TT	uc010fxm.1	+	2	313_314	c.222_223CC>TT	c.(220-225)ttcctt>ttTTtt	p.L75F	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	75	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCCT	0.371000														124			48		0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38271940	38271940	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:38271940C>T	uc003auf.3	+	9	1077	c.999C>T	c.(997-999)atC>atT	p.I333I	EIF3L_uc011ann.2_Silent_p.I285I|EIF3L_uc003aug.3_Silent_p.I225I	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	333						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGATGCCATCCGGGTCTTCG	0.502000														117			77		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580900	140580900	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140580900C>T	uc003liy.3	+	0	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.677000														79			16		0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3039907	3039907	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:3039907T>C	uc001lxf.3	-	12	1552	c.1468A>G	c.(1468-1470)Atg>Gtg	p.M490V	CARS_uc010qxo.2_Missense_Mutation_p.M490V|CARS_uc001lxe.3_Missense_Mutation_p.M397V|CARS_uc001lxg.3_Missense_Mutation_p.M407V|CARS_uc001lxh.3_Missense_Mutation_p.M407V|CARS_uc010qxp.2_Missense_Mutation_p.M420V	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	407					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		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;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GACTTTGACATTTTGCAGCCT	0.478000			T	ALK	ALCL									36			32		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029831	95029831	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:95029831C>T	uc010avd.3	+	1	397	c.123C>T	c.(121-123)atC>atT	p.I41I	SERPINA4_uc001ydk.3_Silent_p.I4I|SERPINA4_uc001ydl.3_Silent_p.I4I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	4					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGCATCTTATCGACTACCTGC	0.557000														23			34		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449656	138449656	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:138449656G>A	uc003ihe.4	-	2	3103	c.2716C>T	c.(2716-2718)Ctc>Ttc	p.L906F	PCDH18_uc003ihf.4_Missense_Mutation_p.L898F|PCDH18_uc011cgz.2_Missense_Mutation_p.L117F|PCDH18_uc003ihg.4_Missense_Mutation_p.L685F|PCDH18_uc011cha.2_Missense_Mutation_p.L86F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	906	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATCTGTGAGAAACAGGTCG	0.448000														135			82		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997949	29997949	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:29997949C>T	uc010bzm.2	+	14	2412	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Intron|TAOK2_uc002dva.2_Nonsense_Mutation_p.Q786*|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Nonsense_Mutation_p.Q613*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	786	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGTCCTGGACCAAAGAATGCT	0.607000														47			39		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752255	15752255	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15752255C>T	uc010xok.2	+	1	80	c.30C>T	c.(28-30)ggC>ggT	p.G10G	CYP4F3_uc010xol.2_Silent_p.G10G|CYP4F3_uc002nbj.3_Silent_p.G10G|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.G10G	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	10					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCGCTGGGCCTTTGGCCAA	0.657000														35			18		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99422250	99422251	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:99422250_99422251CC>TT	uc001dsb.3	-	1	506_507	c.284_285GG>AA	c.(283-285)agg>aAA	p.R95K	LPPR5_uc001dsc.3_Missense_Mutation_p.R95K	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	95						integral to membrane	hydrolase activity										TTTCAAAATCCCTTGTGGCTAG	0.347000														12			28		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015211	45015211	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45015211C>T	uc010ejn.1	-	11	1630	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	CEACAM20_uc010ejo.1_Silent_p.T526T|CEACAM20_uc010ejp.1_Silent_p.T445T|CEACAM20_uc010ejq.1_Silent_p.T433T	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	538						integral to membrane		p.T537M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGCAGCTTCGTCTGCAAGT	0.532000														195			89		0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36013287	36013287	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:36013287C>T	uc003anz.3	-	0	98	c.18G>A	c.(16-18)ggG>ggA	p.G6G	MB_uc003aoa.3_Silent_p.G6G|MB_uc003aob.3_Silent_p.G6G	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	6							heme binding|oxygen transporter activity			lung(1)	1						ACTGCCATTCCCCGTCGCTGA	0.577000														49			21		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467098	56467098	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56467098C>A	uc002qmh.3	+	2	1745	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	NLRP8_uc010etg.3_Missense_Mutation_p.F558L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	558						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGACTTTTCTTATTCGGTT	0.458000														27			24		1.22574e-08	1.23898e-08	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:19553804G>A	uc001vuz.1	+	0	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	130								p.E130*(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000														99			27		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542973	133542973	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:133542973C>T	uc002ttp.3	-	13	1785	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	471							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATCTAGATCATAAACAAAT	0.502000														53			22		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965376	22965376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:22965376G>A	uc001bfy.3	+	2	299	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	72	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCAGGGGGAACCTGGGCC	0.642000														9			11		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388942	4388942	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4388942C>T	uc010qye.2	-	0	675	c.584G>A	c.(583-585)cGa>cAa	p.R195Q		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGTTTATTCGAATGTCATT	0.338000														26			18		0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149768	193149768	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:193149768G>A	uc021pgr.1	-	0	925	c.925C>T	c.(925-927)Cct>Tct	p.P309S	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Missense_Mutation_p.P309S	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	309					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAGAAGACAGGATAACGCTCA	0.418000														38			17		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921582	130921582	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:130921582C>T	uc001uil.2	-	9	2076	c.1860G>A	c.(1858-1860)agG>agA	p.R620R	RIMBP2_uc001uim.3_Silent_p.R528R	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	620	Pro-rich.					cell junction|synapse		p.A619S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTCATCCATCCTGGCGTGGG	0.667000														18			15		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063201	9063201	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:9063201G>A	uc003jek.2	-	17	3028	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	772					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCACGCAGGAAATCCCCAG	0.542000														9			5		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7491972	7491972	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:7491972C>T	uc003src.1	-	17	1604	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	COL28A1_uc011jxe.1_Missense_Mutation_p.G179E|COL28A1_uc003srd.3_Missense_Mutation_p.G51E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	496					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACTCCAATTCCCACTGGTCC	0.398000														71			22		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529669	80529669	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:80529669G>A	uc021vjt.1	-	0	1276	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.H426Y	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	426						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCACCTTGTGGATCTGCACG	0.657000										HNSCC(69;0.2)				33			32		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124332555	124332555	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:124332555C>T	uc001uft.4	+	31	5533	c.5508C>T	c.(5506-5508)acC>acT	p.T1836T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1836	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T428T(1)|p.T1836T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCAGGAACCGGCAAAACCG	0.557000														80			48		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351962	124351962	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:124351962G>A	uc001lgk.1	+	19	2457	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DMBT1_uc001lgl.1_Missense_Mutation_p.G774E|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.G784E|DMBT1_uc021qag.1_Missense_Mutation_p.G774E|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G784E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G397E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	784	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGGCCCCAGGAAATGCCCGG	0.627000														120			91		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228683	121228683	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:121228683G>A	uc003yox.3	+	13	1956	c.1691G>A	c.(1690-1692)gGt>gAt	p.G564D	COL14A1_uc003yoy.3_Missense_Mutation_p.G242D|COL14A1_uc010mde.1_Missense_Mutation_p.G242D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	564	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGATCAATGGTTATCGAATT	0.403000														41			38		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683303	71683303	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:71683303G>A	uc002fax.3	-	17	3468	c.3462C>T	c.(3460-3462)ccC>ccT	p.P1154P	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.P1087P|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1154						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCCCCTCAACGGGCTGGTCAT	0.562000														31			28		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363977	22363977	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:22363977G>A	uc002nqs.1	-	2	860	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGGTTGAGGACCAGTTAAA	0.343000														36			14		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275345	71275345	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:71275345G>A	uc003hfi.3	+	2	474	c.300G>A	c.(298-300)ccG>ccA	p.P100P		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	100	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACTCTTTCCGGGTTATCCAA	0.403000														87			60		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55543249	55543249	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:55543249G>A	uc002ryv.2	-	22	4586	c.3744_splice	c.e22-1	p.R1248_splice	CCDC88A_uc010ypa.1_Splice_Site_p.R1248_splice|CCDC88A_uc010yoz.1_Splice_Site_p.R1249_splice|CCDC88A_uc002ryu.2_Splice_Site_p.R531_splice|CCDC88A_uc002rys.3_Splice_Site_p.R234_splice|CCDC88A_uc002ryw.3_Splice_Site_p.R532_splice|CCDC88A_uc010fby.1_Splice_Site_p.R128_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1249					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATGATTCAGCCTATAATTA	0.249000														9			6		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033438	82033438	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:82033438G>A	uc002fgu.3	-	2	588	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	154					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACTTTGTCCGAGAGTAGTGA	0.532000														48			29		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735983	13735983	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13735983C>T	uc003jfd.2	-	66	11556	c.11514G>A	c.(11512-11514)gaG>gaA	p.E3838E	DNAH5_uc003jfc.2_Silent_p.E6E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3838					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGATACATCTCATTAACCA	0.498000									Kartagener syndrome					55			25		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:104130542G>A	uc010mtd.3	-	2	638	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_uc004bbd.4_Missense_Mutation_p.R177W	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478000														26			8		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88367503	88367503	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:88367503C>T	uc002ssr.3	+	0	205	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SMYD1_uc002ssq.2_Silent_p.S40S	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGGCTTATTCCGCAGTGGTTT	0.493000														73			55		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934706	44934706	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44934706C>T	uc002oze.1	-	5	684	c.250G>A	c.(250-252)Gga>Aga	p.G84R	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G78R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTATCCTTTCCATTCTTGTCT	0.398000														13			8		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41483761	41483761	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41483761G>A	uc010ucv.2	-	9	1015	c.743C>T	c.(742-744)tCc>tTc	p.S248F	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.S190F	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	190					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CGTTTCCATGGAAAACTGAAG	0.378000														28			20		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948165	55948165	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:55948165A>T	uc003has.3	-	28	4108	c.3806T>A	c.(3805-3807)cTg>cAg	p.L1269Q	KDR_uc003hat.1_Missense_Mutation_p.L1269Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1269					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGTTTTCAGCTCTTCTGA	0.363000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				58			23		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273492	125273492	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125273492G>A	uc011lyv.2	+	0	412	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	OR1J2_uc004bmj.2_Missense_Mutation_p.E138K	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATCATGAGGGAAGAGCTCTG	0.473000														36			26		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48683241	48683241	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:48683241G>A	uc003cuf.1	-	24	7734	c.7734C>T	c.(7732-7734)tcC>tcT	p.S2578S	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.S491S|CELSR3_uc003cul.3_Silent_p.S2508S|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2508					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCGTGCGTGGGACCCATTCC	0.637000														23			15		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656974	8656974	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8656974C>A	uc002mkj.1	-	13	1875	c.1601G>T	c.(1600-1602)cGg>cTg	p.R534L	ADAMTS10_uc002mki.1_Missense_Mutation_p.G25W|ADAMTS10_uc002mkk.1_Missense_Mutation_p.R166L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	534	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GACACAGACCCGTTTGTAGCA	0.701000														37			3		1	1	1	1	0
MAST1	22983	broad.mit.edu	37	19	12977540	12977540	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:12977540C>T	uc002mvm.3	+	17	2231	c.2103C>T	c.(2101-2103)atC>atT	p.I701I		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	701	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGTGGAAATCCGCCAGTTCT	0.622000														16			6		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165634254	165634254	+	Splice_Site	SNP	C	T	T	rs140134210		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:165634254C>T	uc001gdh.1	-	10	1567	c.1462_splice	c.e10+1	p.G488_splice	ALDH9A1_uc010pky.1_Splice_Site_p.G394_splice|ALDH9A1_uc010pkz.1_Splice_Site_p.G478_splice	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	464					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CAGCTCCTCACCTGACTTCTT	0.463000														6			29		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549877	167549877	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:167549877C>T	uc003qvl.3	+	12	2635	c.159C>T	c.(157-159)taC>taT	p.Y53Y	CCR6_uc010kkm.3_Silent_p.Y53Y|CCR6_uc003qvn.4_Silent_p.Y53Y|CCR6_uc003qvm.4_Silent_p.Y53Y	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	53					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CGATTGCCTACTCCTTGATCT	0.448000														21			52		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100608315	100608315	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:100608315G>A	uc010nno.2	-	17	2110	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	BTK_uc004ehf.2_Missense_Mutation_p.S92F|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_Missense_Mutation_p.S68F|BTK_uc010nnm.2_Missense_Mutation_p.S162F|BTK_uc004ehg.2_Missense_Mutation_p.S592F|BTK_uc010nnn.2_Missense_Mutation_p.S416F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	592	Protein kinase.		V -> G (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.S592F(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCCCCAGGGAGTAAATTTC	0.438000									Agammaglobulinemia, X-linked					21			63		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497276	149497276	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:149497276G>A	uc003lro.3	-	21	3511	c.3042C>T	c.(3040-3042)ccC>ccT	p.P1014P	PDGFRB_uc010jhd.3_Silent_p.P853P	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1014					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCTCATTGGGCTGCACGG	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									31			30		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906327	164906327	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:164906327C>T	uc003fej.4	-	1	2736	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	SLITRK3_uc003fek.3_Silent_p.V764V|SLITRK3_uc021xgy.1_Silent_p.V764V	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	764						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGAAACAGCCACCTCCTCCT	0.577000										HNSCC(40;0.11)				55			39		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197309	81197309	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:81197309G>A	uc002fgh.1	-	20	3373	c.3373C>T	c.(3373-3375)Cca>Tca	p.P1125S	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1125					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTCGGGCTGGAAAGGGGCTC	0.532000														7			3		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145493815	145493815	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:145493815G>A	uc003lnx.1	-	31	3623	c.3385C>T	c.(3385-3387)Cct>Tct	p.P1129S	LARS_uc003lnw.1_Missense_Mutation_p.P287S|LARS_uc011dbq.1_Missense_Mutation_p.P1083S|LARS_uc011dbr.1_Missense_Mutation_p.P1075S|LARS_uc011dbs.1_Missense_Mutation_p.P1102S	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	1129					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCAGGACAGGAACTCGTCGA	0.413000														31			4		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577406	104577406	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:104577406T>C	uc003hxe.1	-	2	974	c.833A>G	c.(832-834)gAa>gGa	p.E278G		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	278						integral to plasma membrane	tachykinin receptor activity	p.E278K(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCCTGGGATTTCTCCTCCCCA	0.403000														77			25		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924300	70924300	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:70924300C>T	uc021rvq.1	+	0	84	c.84C>T	c.(82-84)taC>taT	p.Y28Y	ADAM21_uc001xmd.3_Silent_p.Y28Y	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	28					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTCCGGCTACTGTCAGGCTG	0.537000														32			32		0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633927	6633927	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:6633927C>T	uc003jdw.3	+	0	428	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	NSUN2_uc003jdu.3_5'Flank|NSUN2_uc011cmk.2_5'Flank|NSUN2_uc003jdv.3_5'Flank|SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Silent_p.S88S	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	80					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L79L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCGCGTCTCCGCAGCGCGCC	0.741000														28			11		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36780013	36780013	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:36780013C>T	uc010lvw.3	+	23	2689	c.2602C>T	c.(2602-2604)Cct>Tct	p.P868S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	868						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCAGAAAATCCTTCCAACAT	0.458000														45			17		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240984523	240984523	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:240984523G>T	uc010zoe.2	-	0	967	c.967C>A	c.(967-969)Cat>Aat	p.H323N	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATTTGGAGATGAAGTTCCAGA	0.418000														90			61		1.7104e-27	1.74085e-27	1	1	0
ICK	22858	broad.mit.edu	37	6	52878705	52878705	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:52878705G>A	uc003pbh.2	-	9	1397	c.907C>T	c.(907-909)Cca>Tca	p.P303S	ICK_uc003pbi.2_Missense_Mutation_p.P303S	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	303					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTTTCTGTGGTTTTTCTGAA	0.498000														10			19		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87041264	87041264	+	Nonsense_Mutation	SNP	G	A	A	rs121918440		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:87041264G>A	uc003uiv.1	-	22	2945	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.R957*|ABCB4_uc003uix.1_Intron	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	957	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCACCAAATCGAAAACAACCG	0.328000														13			24		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509727	71509727	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:71509727G>A	uc011caw.1	+	8	2865	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	862					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGTCAAAAAGAAGCACATTT	0.448000														32			20		0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065969	33065969	+	Silent	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33065969T>C	uc001bvn.3	+	4	1760	c.1275T>C	c.(1273-1275)gtT>gtC	p.V425V	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_3'UTR|ZBTB8OS_uc001bvo.1_Intron	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCCAACAGGTTGATGATAGTG	0.403000														19			36		0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48934105	48934105	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:48934105G>A	uc004dml.1	-	5	595	c.423C>T	c.(421-423)acC>acT	p.T141T	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Silent_p.T90T|WDR45_uc004dmk.1_Silent_p.T140T|WDR45_uc004dmn.1_Silent_p.T31T|WDR45_uc004dmp.1_Silent_p.T141T	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	140					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTTGTCCCGGGTATCAAACT	0.532000														16			40		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154587079	154587079	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:154587079C>T	uc021zhc.1	-	12	1894	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	CNKSR3_uc003qpw.3_Missense_Mutation_p.M1I|CNKSR3_uc003qpx.3_Missense_Mutation_p.M1I|CNKSR3_uc010kjh.3_Missense_Mutation_p.M1I|CNKSR3_uc021zhd.1_Missense_Mutation_p.M45I|CNKSR3_uc021zhe.1_Missense_Mutation_p.M45I	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		p.R463W(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TGTATGATGTCATCTTAGTAG	0.333000														22			50		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106445042	106445042	+	Splice_Site	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:106445042A>T	uc021ser.1	-	2689		c.46182_splice	c.e2689+1							Parts of antibodies, mostly variable regions.																		CCCAGGAGAAATTCCCCACGT	0.557000														3			3		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362815	36362815	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36362815G>A	uc002oce.3	+	5	865	c.727G>A	c.(727-729)Gag>Aag	p.E243K	APLP1_uc010xsz.2_Missense_Mutation_p.E204K|APLP1_uc002ocf.3_Missense_Mutation_p.E243K|APLP1_uc002ocg.3_Missense_Mutation_p.E146K|APLP1_uc010xta.2_Missense_Mutation_p.E237K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	243	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTGAGGACGAGGAAGAGGA	0.632000														59			39		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228520616	228520616	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:228520616C>T	uc009xez.1	+	56	15752	c.15708C>T	c.(15706-15708)ttC>ttT	p.F5236F	OBSCN_uc001hsn.3_Silent_p.F5236F|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5236					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATCCTACTTCAGTGCCCAAG	0.612000														27			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071830	9071831	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9071830_9071831CC>TT	uc002mkp.3	-	2	15819_15820	c.15615_15616GG>AA	c.(15613-15618)acggac>acAAac	p.D5206N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5208	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						AAACTTGTGTCCGTGGGAAAGC	0.460000														112			37		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116186556	116186556	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:116186556C>T	uc004bhp.3	+	7	1213	c.767C>T	c.(766-768)tCt>tTt	p.S256F	C9orf43_uc004bho.4_Missense_Mutation_p.S256F	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	256										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTGTGATTTCTTCTAAGATG	0.433000														105			72		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632298	111632298	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:111632298G>A	uc010hqa.3	+	2	1879	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D517N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyi.3_Missense_Mutation_p.D76N|PHLDB2_uc003dyf.4_Missense_Mutation_p.D490N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	490						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGCTCTCTGATGAGGAGTC	0.522000														73			41		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43003834	43003834	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43003834G>A	uc010wji.2	-	14	2510	c.2409C>T	c.(2407-2409)gcC>gcT	p.A803A	KIF18B_uc002iht.3_Silent_p.A812A|KIF18B_uc010wjh.2_Silent_p.A800A	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGGGGAGGCGGGCGATGCGGC	0.617000														6			4		0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160719	38160719	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:38160719G>A	uc002ogy.2	-	3	1073	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	ZNF781_uc002ogz.2_Missense_Mutation_p.H106Y|ZNF781_uc021utu.1_Missense_Mutation_p.H111Y	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	Homo sapiens zinc finger protein 781 (ZNF781), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCACCAGTATGAATTCTTTGA	0.378000														50			49		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112261	248112261	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248112261C>T	uc001idt.1	+	0	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTTCATTTTCCTGATGGCTC	0.398000														57			218		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815823	106815823	+	RNA	SNP	T	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:106815823T>A	uc021ser.1	-	558		c.15904A>T								Parts of antibodies, mostly variable regions.																		AATCGGCCCTTCACGGAGTCT	0.522000														33			47		0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126379036	126379036	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:126379036C>T	uc003yrw.2	+	7	881	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA.	218					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TGTAGCCACACGGATATAAGA	0.408000														176			78		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20261303	20261303	+	RNA	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:20261303G>T	uc010cqy.1	+	8		c.2146G>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TAAACAAATGGAAAATATGGT	0.318000														14			18		9.57634e-11	9.68934e-11	1	1	0
ATE1	11101	broad.mit.edu	37	10	123670484	123670484	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:123670484C>T	uc001lfp.3	-	4	602	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ATE1_uc001lfq.3_Missense_Mutation_p.G174R|ATE1_uc010qtr.2_Missense_Mutation_p.G59R|ATE1_uc010qts.2_Missense_Mutation_p.G78R|ATE1_uc010qtt.2_Missense_Mutation_p.G167R|ATE1_uc001lfr.3_5'UTR|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	174					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AACTTCTCTCCTACGAAATCT	0.388000														34			34		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981059	121981059	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121981059C>T	uc003eew.4	+	3	1615	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CASR_uc003eev.4_Missense_Mutation_p.P393S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	393					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCCTTCCGACCCCTCTGTAC	0.493000														41			25		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861094	16861094	+	Silent	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:16861094C>G	uc002neu.4	+	5	2063	c.1641C>G	c.(1639-1641)gcC>gcG	p.A547A	NWD1_uc002net.4_Silent_p.A412A|NWD1_uc002nev.4_Silent_p.A341A|NWD1_uc021uqg.1_Silent_p.A412A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	547	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAAATGGGCCTCTTTCACCG	0.672000														15			9		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961618	85961618	+	Missense_Mutation	SNP	G	A	A	rs145952783	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:85961618G>A	uc003dql.3	+	4	604	c.604G>A	c.(604-606)Gcg>Acg	p.A202T	CADM2_uc003dqj.3_Missense_Mutation_p.A200T|CADM2_uc003dqk.3_Missense_Mutation_p.A209T|CADM2_uc003dqm.2_Missense_Mutation_p.A92T|CADM2_uc021xay.1_Missense_Mutation_p.A92T|CADM2_uc021xaz.1_Missense_Mutation_p.A92T|CADM2_uc021xba.1_Missense_Mutation_p.A92T	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	200	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A202T(2)|p.A209T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGATGGAGTGGCGGTCATCTG	0.478000														22			16		0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166226792	166226792	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:166226792G>A	uc003irb.3	+	8	1213	c.954G>A	c.(952-954)aaG>aaA	p.K318K	KLHL2_uc011cjm.2_Silent_p.K322K|KLHL2_uc003irc.3_Silent_p.K230K|KLHL2_uc010ira.3_Intron	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	318					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAGCACCAAAGGCTATCCGGA	0.458000														95			42		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161133736	161133736	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:161133736G>A	uc010pkc.2	+	8	1560	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	USP21_uc010pkd.2_Missense_Mutation_p.E395K|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	395					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACGACCTTCGAGGTTTTTTG	0.572000														44			25		0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30525980	30525980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:30525980C>T	uc003nqi.2	+	1	796	c.160C>T	c.(160-162)Cct>Tct	p.P54S	GNL1_uc011dmi.2_5'Flank|GNL1_uc011dmj.2_5'Flank|GNL1_uc011dmk.2_5'Flank|GNL1_uc003nqh.3_5'Flank|PRR3_uc003nqj.2_Intron	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	54	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						ACCTGGCGACCCTAAGTCAGG	0.498000														38			29		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451887	123451887	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:123451887C>T	uc003ego.3	-	10	1654	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MYLK_uc011bjw.2_Missense_Mutation_p.E458K|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.E458K|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E282K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	458	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTGCCTTCCTGTCTCCTC	0.567000														20			21		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160280027	160280027	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:160280027G>A	uc001fvv.4	-	11	1492	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	COPA_uc009wti.3_Silent_p.F366F|COPA_uc009wtj.1_Silent_p.F312F	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	366					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATATTGAATACTGGAA	0.413000														30			85		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104816663	104816663	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:104816663C>T	uc001kwm.3	+	3	2178	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	CNNM2_uc001kwn.3_Missense_Mutation_p.P672L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	672					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AAGAAAGCCCCCGAATACTAC	0.443000														72			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286961	152286961	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152286961C>T	uc001ezu.1	-	2	437	c.401G>A	c.(400-402)aGa>aAa	p.R134K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	134					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCCCTTTTCTATTGTTTCT	0.363000									Ichthyosis					92			26		0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121275051	121275051	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:121275051G>A	uc001lee.3	-	2	345	c.345C>T	c.(343-345)caC>caT	p.H115H	RGS10_uc001lef.3_Silent_p.H109H|RGS10_uc001leg.3_Silent_p.H123H	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	115	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H123Q(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACATCAGAGGGTGCGGTTCTT	0.507000														18			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764612	140764612	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140764612C>T	uc003lka.2	+	0	2146	c.2146C>T	c.(2146-2148)Ctg>Ttg	p.L716L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.L716L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	708					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C716*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTCAGGCTGCGGCGCTG	0.622000														31			9		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48140986	48140986	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:48140986T>C	uc003gxz.3	-	15	1680	c.1589A>G	c.(1588-1590)aAg>aGg	p.K530R		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	530	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACACCACTTCACAGGAAA	0.453000														30			19		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342287	29342287	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:29342287G>A	uc003nme.3	-	0	782	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GAAGCAGGACGAATATATGTG	0.488000														20			8		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426749	26426749	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26426749C>T	uc011dkl.1	+	2	734	c.704C>T	c.(703-705)cCa>cTa	p.P235L	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		ATTTTTATTCCAGGTTAGTTC	0.522000														42			26		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234077951	234077952	+	Splice_Site	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234077951_234077952GG>AA	uc010zmo.2	+	13	1622	c.1469_splice	c.e13-1	p.G490_splice	INPP5D_uc010zmp.2_Splice_Site_p.G489_splice	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	519					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCTTTTTAGGGAACAAGGGAG	0.480000														18			3		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58153570	58153570	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:58153570C>G	uc002iyk.1	-	1	265	c.248G>C	c.(247-249)tGc>tCc	p.C83S	HEATR6_uc010wos.1_5'Flank	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	83							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACCAGTCGGCAAGCCTGGAC	0.378000														23			18		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145566692	145566692	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:145566692G>A	uc001eob.1	+	10	2902	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K		NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	932										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAGATCAAGGAGTTGTTGAA	0.478000														28			14		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384601	128384601	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:128384601G>A	uc002top.3	+	30	4242	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	MYO7B_uc002toq.1_Missense_Mutation_p.V250M|MYO7B_uc002tor.1_Missense_Mutation_p.V250M	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1397	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGAGCAGGTGGTGGACGCCGC	0.622000														16			9		0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829181	98829181	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:98829181C>T	uc001vnk.3	-	0	341	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	104							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCCTCTGGCCCCACAGGCTTC	0.687000														25			11		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23652513	23652513	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:23652513C>T	uc002zww.3	+	17	3671	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I	BCR_uc002zwx.3_Silent_p.I981I|BCR_uc011aiy.2_Silent_p.I614I	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1025					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACTGTAGATCGAAGTAAAGC	0.527000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									42			12		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940161	49940161	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:49940161C>T	uc003cxy.4	-	0	1146	c.882G>A	c.(880-882)cgG>cgA	p.R294R	MST1R_uc011bdc.2_Silent_p.R294R|MST1R_uc011bdd.2_Silent_p.R294R|MST1R_uc011bde.1_Silent_p.R294R|MST1R_uc011bdf.1_Silent_p.R294R|MST1R_uc011bdg.2_Silent_p.R294R	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	294	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGACCAGCTCCCGATAGTCAC	0.652000														68			44		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442961	116442961	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:116442961C>T	uc003pwm.3	-	2	414	c.318G>A	c.(316-318)ggG>ggA	p.G106G	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	106	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CACCTGGTTTCCCTACAGCTG	0.602000														17			24		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33055744	33055744	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:33055744G>A	uc011axk.1	-	15	1799	c.1682C>T	c.(1681-1683)cCa>cTa	p.P561L	GLB1_uc003cfh.1_Missense_Mutation_p.P483L|GLB1_uc003cfi.1_Missense_Mutation_p.P513L|GLB1_uc003cfj.1_Missense_Mutation_p.P382L	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	513					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGTGTCCAGTGGAAAGATCGT	0.562000														26			17		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9771352	9771352	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:9771352G>A	uc021wst.1	+	20	1809	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	CPNE9_uc003bsd.3_Silent_p.P545P|BRPF1_uc003bse.3_5'Flank|BRPF1_uc003bsf.3_5'Flank|BRPF1_uc003bsg.3_5'Flank|BRPF1_uc011ati.2_5'Flank	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	546										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ACCCCAGCCCGATCCCAGCTC	0.617000														19			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584171	82584171	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:82584171G>A	uc003uhx.2	-	4	6387	c.6098C>T	c.(6097-6099)tCt>tTt	p.S2033F	PCLO_uc003uhv.2_Missense_Mutation_p.S2033F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1964					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGATAAAAGAGCTTGAAAC	0.388000														37			43		0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27737091	27737091	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:27737091C>T	uc003xgj.3	-	7	1957	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	SCARA5_uc010luz.3_Missense_Mutation_p.G224E	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	449	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTTACCTTGCCCGAATCGAGC	0.607000														54			21		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855568	31855568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:31855568C>T	uc003tcm.2	-	14	2244	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	PDE1C_uc003tcn.1_Missense_Mutation_p.E595K|PDE1C_uc003tco.2_Missense_Mutation_p.E655K|PDE1C_uc003tcr.3_Missense_Mutation_p.E595K|PDE1C_uc003tcs.3_Missense_Mutation_p.E595K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	595					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E595K(6)|p.A594A(1)|p.E655K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GATGACTTCTCGGCTTTGGAG	0.443000														119			150		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100731662	100731662	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:100731662G>A	uc003uxq.3	+	2	1300	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.G357R	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	357					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.P356S(1)|p.P356H(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTCCATCCTGGGCTCCTGGA	0.667000														26			8		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749142	14749142	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:14749142G>A	uc002mzi.4	-	10	1407	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	EMR3_uc010dzp.3_Missense_Mutation_p.S368F|EMR3_uc010xnv.2_Missense_Mutation_p.S294F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	420					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGCGATGATGGAGCACAGCAC	0.587000														25			16		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10091094	10091094	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:10091094G>A	uc003buw.3	+	16	1528	c.1450G>A	c.(1450-1452)Ggg>Agg	p.G484R	FANCD2_uc003bux.1_Missense_Mutation_p.G484R|FANCD2_uc003buy.1_Missense_Mutation_p.G484R|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	484					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TATCTGCAGTGGGAATGAAGC	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					215			15		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46264123	46264123	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46264123C>T	uc011bzc.1	-	7	1126	c.714G>A	c.(712-714)atG>atA	p.M238I	GABRA2_uc003gxc.3_Missense_Mutation_p.M293I|GABRA2_uc010igc.2_Missense_Mutation_p.M293I|GABRA2_uc003gxe.3_Missense_Mutation_p.M293I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	293					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)	TTAGAGTTGTCATTGTTAGGA	0.423000														24			13		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:31722980G>A	uc003akq.3	-	4	2622	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	PATZ1_uc003akp.3_3'UTR|PATZ1_uc003akr.3_Missense_Mutation_p.S608F	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567000														47			29		0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783075	5783075	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:5783075G>A	uc010xiv.1	-	2	1288	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S	PRR22_uc002mdb.1_Missense_Mutation_p.P393S	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	393										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TTCCTTCCCGGCTTTCCCTTC	0.697000														24			20		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2787337	2787337	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:2787337C>T	uc003bpc.3	+	5	653	c.314C>T	c.(313-315)tCg>tTg	p.S105L	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S105L|CNTN4_uc003bpd.1_Missense_Mutation_p.S105L	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	105	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCGACAAACTCGTTTGGAACA	0.408000														36			28		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117279656	117279656	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:117279656C>T	uc001prc.3	+	28	3807	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T	CEP164_uc001prb.3_Silent_p.T1223T|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.T653T	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1220					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGCAGTAACCTTCGACCTCA	0.567000														38			29		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135477634	135477634	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:135477634C>T	uc004ezu.1	+	18	8457	c.8166C>T	c.(8164-8166)acC>acT	p.T2722T	GPR112_uc010nsb.1_Silent_p.T2517T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2722	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCACCTCACCCATTTTGGAG	0.388000														3			13		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196197465	196197465	+	Splice_Site	SNP	T	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:196197465T>A	uc001gtd.1	-	28	3357	c.3297_splice	c.e28-1	p.V1099_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.V1032_splice|KCNT2_uc001gtf.1_Splice_Site_p.V1075_splice|KCNT2_uc001gtg.1_Splice_Site	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1099						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAATTAAGTATCTAATAAAAG	0.358000														22			10		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18618377	18618377	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:18618377C>T	uc001bau.2	+	2	584	c.201C>T	c.(199-201)acC>acT	p.T67T		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	67	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATGGTGGCACCATCAAGCAAA	0.557000														96			38		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107116	55107116	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:55107116A>T	uc002qgh.1	+	5	856	c.674A>T	c.(673-675)aAg>aTg	p.K225M	LILRA1_uc010yfg.1_Missense_Mutation_p.K223M|LILRA1_uc010yfh.2_Missense_Mutation_p.K225M	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	225					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTTTCTAAGAAGCCATCACTC	0.562000														64			29		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417186	63417186	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:63417186C>T	uc001xfx.3	-	6	1085	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	KCNH5_uc001xfy.3_Missense_Mutation_p.G345E|KCNH5_uc001xfz.1_Missense_Mutation_p.G287E|KCNH5_uc001xga.3_Missense_Mutation_p.G287E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	345					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GACTGCTGCTCCATATTCTAG	0.507000														15			23		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999391	72999391	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72999391A>T	uc002lly.3	+	1	2457	c.1894A>T	c.(1894-1896)Aat>Tat	p.N632Y	TSHZ1_uc021uln.1_Missense_Mutation_p.N632Y	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	677						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGCAAAAGAGAATAAAGATTT	0.567000														39			16		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541150	133541150	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:133541150C>T	uc002ttp.3	-	13	3608	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1078							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAGGACGTCATTTCCAGTG	0.507000														168			76		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	104851282	104851282	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104851282C>G	uc001tkz.3	+	0	591	c.93C>G	c.(91-93)ttC>ttG	p.F31L	CHST11_uc001tky.3_Missense_Mutation_p.F31L	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	31					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGGTCATCTTCTATTTCCAAA	0.512000														66			30		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43896198	43896198	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:43896198G>A	uc001cjk.2	+	30	4425	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1504						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGTCACTGAGAGTGACCCAG	0.557000														75			22		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848736	245848736	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:245848736C>T	uc001ibf.1	+	11	2891	c.2451C>T	c.(2449-2451)agC>agT	p.S817S	KIF26B_uc001ibg.1_Silent_p.S435S|KIF26B_uc001ibh.1_Silent_p.S59S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	817					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGGGGAGAGCTCCTGCGAAG	0.657000														4			20		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285864	48285864	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:48285864T>G	uc010rht.2	+	0	452	c.452T>G	c.(451-453)cTg>cGg	p.L151R		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGCGGGGGCCTGCTGCATTCT	0.557000														32			15		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973601	10973601	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:10973601C>T	uc003jfa.1	-	21	3787	c.3642G>A	c.(3640-3642)acG>acA	p.T1214T	CTNND2_uc010itt.2_Silent_p.T1123T|CTNND2_uc011cmy.1_Silent_p.T877T|CTNND2_uc011cmz.1_Silent_p.T781T|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.T806T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1214					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T1214K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTAGTGGCTCGTTTCATAGT	0.577000														35			17		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118364911	118364911	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:118364911C>T	uc001lco.1	+	11	1204	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P396S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	396	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATTCTCAAACCAGGCTCAAC	0.393000														63			19		0	0	1	0	0
RAP2A	5911	broad.mit.edu	37	13	98116528	98116528	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:98116528C>T	uc001vnd.3	+	1	634	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	128					Rap protein signal transduction|actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|regulation of JNK cascade|regulation of dendrite morphogenesis	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AAGTATCGTCCAGCGAAGGCA	0.453000														34			31		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665646	141665646	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:141665646C>T	uc002tvj.1	-	22	4292	c.3320_splice	c.e22-1	p.G1107_splice	LRP1B_uc010fnl.1_Splice_Site_p.G289_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1107	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGCATCTCCCTTAAGAAAA	0.398000										TSP Lung(27;0.18)				30			14		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890237	51890237	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51890237G>A	uc003pah.1	-	31	4647	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F	PKHD1_uc003pai.3_Silent_p.F1457F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1457	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTTCAGGGAGAAGGAAGCTC	0.527000														10			19		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														51			38		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328611	80328611	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:80328611C>T	uc003hlu.3	-	0	762	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	248					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACACCTTCCAGGGCTCCAG	0.448000														73			36		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176506	176506	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:176506A>G	uc001qhw.2	+	0	458	c.458A>G	c.(457-459)aAg>aGg	p.K153R		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	153					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACAAGGAGAAGGAGCGTCCC	0.677000														31			10		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15909809	15909809	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:15909809G>A	uc001awv.2	-	1	497	c.354C>T	c.(352-354)tcC>tcT	p.S118S	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	118					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCATGAGGGACTGGAAGG	0.527000														24			32		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262076	65262076	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:65262076G>A	uc001xht.3	-	10	1674	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	SPTB_uc001xhr.3_Silent_p.I541I|SPTB_uc001xhs.3_Silent_p.I541I|SPTB_uc001xhu.3_Silent_p.I541I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	541					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCATCCAGTCGATGCTGTGCA	0.637000														7			12		0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151824739	151824739	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:151824739G>A	uc021oyw.1	-	1	452	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	107							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACCTGAGGAAACTGCCAG	0.552000														56			27		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025273	176025273	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:176025273G>A	uc003meo.1	-	1	1738	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	GPRIN1_uc021yif.1_Silent_p.P521P	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	521						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGACAGGGGATCTCCTT	0.652000														34			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091577	9091577	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9091577C>T	uc002mkp.3	-	0	442	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	80	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						GACATCACCCCCAAAGACTGG	0.532000														61			30		0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43196356	43196356	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43196356G>A	uc002iib.3	-	4	853	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	247	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCCGCCGCAGGAACTCCTCG	0.627000														11			8		0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82644926	82644926	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:82644926C>T	uc003ycl.3	+	0	239	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	22	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.P22S(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						GCTCCCAGTCCCCAGGAGGCC	0.592000														6			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753350	13753350	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13753350C>T	uc003jfd.2	-	62	10906	c.10864G>A	c.(10864-10866)Gaa>Aaa	p.E3622K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3622	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGGAGTTCATTTCGGCTT	0.333000									Kartagener syndrome					27			4		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620779	56620779	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:56620779G>A	uc002iwq.2	-	0	955	c.769C>T	c.(769-771)Cct>Tct	p.P257S	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	257										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTTTTGAAGGAATTGGACCG	0.473000														64			56		0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156770005	156770005	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156770005C>T	uc003lwu.2	-	1	728	c.540G>A	c.(538-540)ctG>ctA	p.L180L	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.L180L	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	180						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCATTTCCACCAGGGGGAGCC	0.627000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			19		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56179783	56179783	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:56179783C>T	uc002xyo.3	-	7	1417	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	ZBP1_uc010gjm.3_Missense_Mutation_p.R378Q|ZBP1_uc002xyp.3_Missense_Mutation_p.R304Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	379						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding	p.P378S(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			ACCAATGTCTCGAGGAAAGTG	0.552000														76			39		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182343	182343	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:182343G>A	uc003jak.2	+	17	3771	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1241					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCGTCGAGGAAGATGAGCC	0.657000														29			13		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927009	52927009	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:52927009C>T	uc003gzl.3	+	2	533	c.255C>T	c.(253-255)tcC>tcT	p.S85S	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.S85S|SPATA18_uc003gzk.1_Silent_p.S85S	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	85					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGAGGCTTCCTTTACTGCTG	0.478000														41			14		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:139297773G>A	uc003etj.3	-	1	274	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.I41I|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587000														33			9		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007175	32007175	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32007175G>A	uc003nze.2	+	3	597	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CYP21A2_uc003nzf.2_Missense_Mutation_p.E134K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	163					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CATTGAGGAGGAATTCTCTCT	0.632000														334			89		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122399742	122399742	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:122399742C>T	uc003efq.4	+	0	71	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGCTGTGCCCGGCTCCTTCC	0.632000														7			7		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415124	88415124	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88415124C>T	uc010ikm.3	-	4	1400	c.828G>A	c.(826-828)atG>atA	p.M276I	SPARCL1_uc011cdc.2_Missense_Mutation_p.M151I|SPARCL1_uc003hqs.4_Missense_Mutation_p.M276I|SPARCL1_uc011cdd.2_Missense_Mutation_p.M151I	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	276					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTCCTCTTCCATTTCTGCAT	0.413000														144			91		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617576	37617576	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37617576G>A	uc002yvg.3	+	18	3377	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	DOPEY2_uc011aeb.2_Missense_Mutation_p.A1049T|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1100					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGACAGGACGGCCCACGGCGC	0.637000														30			11		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153029987	153029987	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:153029987G>A	uc011dcy.2	+	3	615	c.588G>A	c.(586-588)cgG>cgA	p.R196R	GRIA1_uc003lva.4_Silent_p.R186R|GRIA1_uc003luy.4_Silent_p.R186R|GRIA1_uc003luz.4_Silent_p.R91R|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.R106R|GRIA1_uc011dcx.2_Silent_p.R117R|GRIA1_uc011dcz.2_Silent_p.R196R|GRIA1_uc010jia.1_Silent_p.R166R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	186					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGGATACCGGATGCTCTTTC	0.517000														33			29		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48387816	48387816	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48387816G>A	uc001rqu.3	-	12	1012	c.831C>T	c.(829-831)ttC>ttT	p.F277F	COL2A1_uc001rqv.3_Silent_p.F208F	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	277	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542000														147			59		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895485	45895485	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45895485G>A	uc002pbn.3	-	7	1545	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P69S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P490S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	490	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCCTCGTGGGGCTGAGAGGC	0.672000														22			12		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685242	125685242	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:125685242G>A	uc022cds.1	-	0	1350	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	DCAF12L1_uc004eul.3_Silent_p.L450L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	450										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGCCTGCAGGGAGAGGCCCCC	0.557000														7			34		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635452	6635453	+	Splice_Site	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:6635452_6635453GG>AA	uc001ant.3	+	3	1356	c.1260_splice	c.e3+1	p.Q420_splice	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Splice_Site_p.Q342_splice	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	420					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCCCTGGCAGGTAAGAGAGCC	0.609000														43			6		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798422	148798422	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:148798422G>A	uc004fdq.3	+	4	1431	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	MAGEA11_uc004fdr.3_Missense_Mutation_p.G397R	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	426						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGAGAGGAGGGAGAGGGAGT	0.537000														10			25		0	0	1	0	0
IQCF3	401067	broad.mit.edu	37	3	51864773	51864773	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:51864773C>T	uc021wyy.1	+	6	1209	c.421C>T	c.(421-423)Cct>Tct	p.P141S	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.P141S	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	141										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATATGCAATCCCTTCAAAGCA	0.483000														36			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944554	20944554	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20944554G>A	uc010vbe.2	-	61	12273	c.12273C>T	c.(12271-12273)tcC>tcT	p.S4091S	DNAH3_uc010vbd.2_Silent_p.S1526S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	4091					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGCTCAATGGAGAGGACAT	0.512000														93			57		0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407816	407816	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:407816C>T	uc001lpg.3	-	4	634	c.481_splice	c.e4+1	p.D161_splice	SIGIRR_uc001lpd.2_Splice_Site_p.D161_splice|SIGIRR_uc001lpf.2_Splice_Site_p.D161_splice|SIGIRR_uc001lpe.1_Splice_Site_p.D161_splice			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	161					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCACGCACCGTTTATCTC	0.687000														45			24		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160758022	160758022	+	Silent	SNP	G	A	A	rs79319310		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:160758022G>A	uc003lys.1	-	8	1163	c.945C>T	c.(943-945)ttC>ttT	p.F315F	GABRB2_uc011deh.1_Silent_p.F154F|GABRB2_uc003lyr.1_Silent_p.F315F|GABRB2_uc003lyt.1_Silent_p.F315F|GABRB2_uc021yhg.1_Silent_p.F252F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCATGAAAACGAAGACAAAGC	0.512000														47			28		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27424861	27424861	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27424861G>A	uc010eyv.1	-	13	1679	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	SLC5A6_uc002rjd.3_Missense_Mutation_p.P453S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	453					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTCACAGGAGGGTTAGCACAT	0.572000														35			27		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394723	152394723	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:152394723C>T	uc021vrb.1	-	109	15854	c.15825G>A	c.(15823-15825)ggG>ggA	p.G5275G	NEB_uc002txr.3_Silent_p.G1741G|NEB_uc002txu.3_Silent_p.G6976G|NEB_uc021vrc.1_Silent_p.G6976G|NEB_uc010fnx.3_Silent_p.G5263G|NEB_uc021vrd.1_Silent_p.G5275G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5275					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGGTATTTCCCTTTGGTCT	0.343000														120			53		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13340994	13340994	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:13340994C>T	uc002mwy.3	-	35	5666	c.5430G>A	c.(5428-5430)atG>atA	p.M1810I	CACNA1A_uc002mwx.3_Missense_Mutation_p.M516I|CACNA1A_uc010dzc.2_Missense_Mutation_p.M1336I|CACNA1A_uc010xnd.2_Missense_Mutation_p.M1813I|CACNA1A_uc021ups.1_Missense_Mutation_p.M1810I|CACNA1A_uc010xne.2_Missense_Mutation_p.M1813I|CACNA1A_uc010dze.2_Missense_Mutation_p.M1810I|CACNA1A_uc021upt.1_Missense_Mutation_p.M1811I|CACNA1A_uc002mwv.3_Missense_Mutation_p.M327I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1811			I -> L (in FHM1; dbSNP:rs121908214).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAAAGTTGTCCATGATGACGG	0.582000														27			6		0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609267	19609268	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:19609267_19609268GG>AA	uc001bbv.1	-	6	1030_1031	c.953_954CC>TT	c.(952-954)gcc>gTT	p.A318V		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	318					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAATGCCAGGCTTGATTAAA	0.554000														41			18		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100738	168100738	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168100738A>C	uc002udx.3	+	8	2925	c.2836A>C	c.(2836-2838)Aag>Cag	p.K946Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K771Q|XIRP2_uc010fpq.3_Missense_Mutation_p.K724Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	771					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAGATGTGAAGAATTACAC	0.333000														12			12		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858299	9858299	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:9858299C>T	uc010uym.2	-	13	3412	c.3102G>A	c.(3100-3102)agG>agA	p.R1034R	GRIN2A_uc002czo.4_Silent_p.R1034R|GRIN2A_uc010uyn.2_Silent_p.R877R|GRIN2A_uc002czr.4_Silent_p.R1034R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1034					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGCCTCATCCCTCTGGGAGA	0.517000														121			62		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036995	48036995	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:48036995C>T	uc003gxw.3	+	4	625	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	187						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GATGGTTATCCATGCCCCACA	0.393000														33			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443395	179443395	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:179443395C>T	uc021vsy.1	-	269	60793	c.60568G>A	c.(60568-60570)Gat>Aat	p.D20190N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13885N|TTN_uc021vta.1_Missense_Mutation_p.D13818N|TTN_uc021vtb.1_Missense_Mutation_p.D13693N|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21117	Fibronectin type-III 46.						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)			GATACTGAATCGTGTCTGACA	0.398000														23			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179549675	179549675	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:179549675G>A	uc021vsy.1	-	126	29005	c.28780C>T	c.(28780-28782)Cct>Tct	p.P9594S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6255S|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10521							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)			ACTGGAGCAGGAACTTTCTTT	0.338000														16			5		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952719	119952719	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:119952719C>T	uc010inb.3	+	3	2985	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	SYNPO2_uc010ina.3_Missense_Mutation_p.S930L|SYNPO2_uc003icm.4_Missense_Mutation_p.S930L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S858L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	930						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTATCCACTCGCCGTCTTAC	0.542000														37			18		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764785	92764785	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:92764785G>T	uc003umh.1	-	4	1716	c.500C>A	c.(499-501)cCt>cAt	p.P167H	SAMD9L_uc003umj.1_Missense_Mutation_p.P167H|SAMD9L_uc003umi.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfb.1_Missense_Mutation_p.P167H|SAMD9L_uc003umk.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfc.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfd.1_Missense_Mutation_p.P167H|SAMD9L_uc022ahh.1_Missense_Mutation_p.P167H	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	167										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGATCAAAAGGATATGGCAT	0.353000														58			91		5.84261e-33	5.95252e-33	1	1	0
XKR3	150165	broad.mit.edu	37	22	17288658	17288658	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:17288658C>T	uc002zlv.3	-	1	404	c.306G>A	c.(304-306)tgG>tgA	p.W102*	XKR3_uc011agf.2_Nonsense_Mutation_p.W102*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	102						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAGAATGTGCCAAAAAAGTA	0.338000														32			15		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814348	103814348	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:103814348C>T	uc001phq.3	-	4	976	c.604G>A	c.(604-606)Gat>Aat	p.D202N	PDGFD_uc001php.3_Missense_Mutation_p.D196N	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	202			D -> Y (in a colorectal cancer sample; somatic mutation).		positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity	p.D202Y(2)|p.T201T(1)|p.T201M(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGAGTGGGATCCGTTACTGAT	0.418000														16			7		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515002	44515002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44515002C>T	uc002oyb.1	+	4	1062	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCAGAAACATCAGATAATTCA	0.418000														42			24		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729272	41729272	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:41729272G>A	uc003thq.3	-	1	1492	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	INHBA_uc003thr.3_Silent_p.I419I	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	419					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I419I(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCCTCCACGATCATGTTCT	0.468000										TSP Lung(11;0.080)				44			47		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608542	28608542	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:28608542G>A	uc001urw.3	-	12	1682	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P534S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	534					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGGGAAGGGGCCTGCAACA	0.393000			"""Mis, O"""		"""AML, ALL"""									20			6		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957626	35957626	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:35957626G>A	uc011lpi.2	-	0	526	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTACCACGGAAGCAGCACC	0.532000														65			34		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50112638	50112638	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:50112638C>T	uc003cyc.3	+	19	3369	c.3121C>T	c.(3121-3123)Cgt>Tgt	p.R1041C	RBM6_uc003cyd.3_Missense_Mutation_p.R519C|RBM6_uc011bdi.2_Missense_Mutation_p.R383C|RBM6_uc003cye.3_Missense_Mutation_p.R519C|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1041					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTGCAGTGATCGTAAACTTGT	0.468000														26			19		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70972585	70972586	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70972585_70972586GG>AA	uc002ezr.3	-	43	7074_7075	c.6923_6924CC>TT	c.(6922-6924)gcc>gTT	p.A2308V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2309										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCAGTCAGGGCATCATATTC	0.564000														21			15		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:131305833C>T	uc003kvx.2	-	14	1604	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.D464N|ACSL6_uc003kvy.2_Missense_Mutation_p.D499N|ACSL6_uc003kvz.2_Missense_Mutation_p.D399N|ACSL6_uc021ydh.1_Missense_Mutation_p.D399N|ACSL6_uc010jdo.2_Missense_Mutation_p.D474N|ACSL6_uc003kwa.2_Missense_Mutation_p.D485N|ACSL6_uc003kvw.2_Missense_Mutation_p.D120N|ACSL6_uc010jdn.2_Missense_Mutation_p.D489N	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	474					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.D499Y(3)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498000														49			36		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	816999	816999	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:816999C>T	uc002cjw.2	+	13	1623	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	MSLN_uc002cju.1_Silent_p.I496I|MSLN_uc002cjt.1_Silent_p.I496I|MSLN_uc010brd.1_Silent_p.I495I|MSLN_uc002cjy.1_Silent_p.I161I	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	504					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCGTGAAGATCCAGTCCTTCC	0.622000														46			15		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924977	4924977	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:4924977C>T	uc002cyb.3	+	14	2905	c.2566C>T	c.(2566-2568)Ccc>Tcc	p.P856S	UBN1_uc010uxw.2_Missense_Mutation_p.P856S|UBN1_uc002cyc.3_Missense_Mutation_p.P856S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	856					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGGCTTCCATCCCTCTGCACC	0.592000														49			17		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850831	167850831	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:167850831C>T	uc003lzu.3	+	10	1661	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	WWC1_uc003lzv.3_Missense_Mutation_p.S523F|WWC1_uc011den.2_Missense_Mutation_p.S523F|WWC1_uc003lzw.3_Missense_Mutation_p.S322F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	523					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTCTGCGTTCCCTGTCTGGC	0.652000														19			12		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656742	8656742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8656742G>A	uc002mkj.1	-	14	2013	c.1739C>T	c.(1738-1740)aCc>aTc	p.T580I	ADAMTS10_uc002mki.1_Missense_Mutation_p.P71S|ADAMTS10_uc002mkk.1_Missense_Mutation_p.T212I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	580	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCCCCGATGGTTGGCCTGGA	0.667000														41			25		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414753	46414753	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:46414753C>T	uc003cpo.4	+	2	482	c.360C>T	c.(358-360)atC>atT	p.I120I	CCR5_uc010hjd.3_Silent_p.I120I|CCR5_uc021wxb.1_Silent_p.I120I	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	120					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTTCATCATCCTCCTGACAA	0.483000														165			71		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400378	89400378	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:89400378G>A	uc010upo.1	+	11	4936	c.4562G>A	c.(4561-4563)gGa>gAa	p.G1521E	ACAN_uc010upp.1_Missense_Mutation_p.G1521E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1521					cell adhesion		hyaluronic acid binding|sugar binding	p.G1521E(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGCTTCTGGAGTAGAGGAC	0.512000														28			20		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:52860732G>A	uc003gzi.3	-	3	2463	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	819						integral to membrane		p.P819P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463000														34			19		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109456	119109456	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:119109456C>T	uc004bjn.3	+	14	4313	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	PAPPA_uc011lxq.2_Missense_Mutation_p.S686F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1311	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGTCAATGTTCCTTCCAGTGC	0.552000														33			21		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35675514	35675514	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:35675514G>A	uc002xgi.3	-	11	1626	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	RBL1_uc002xgj.1_Missense_Mutation_p.P516L	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	516	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAAAGTACGAGGTGAGCTATA	0.373000														29			10		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121298143	121298143	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:121298143G>A	uc003yox.3	+	32	4276	c.4011G>A	c.(4009-4011)ggG>ggA	p.G1337G	COL14A1_uc003yoz.3_Silent_p.G302G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1337	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCAGAGTGGGGATTTTCAAA	0.279000														34			27		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024659	45024659	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45024659G>A	uc010ejn.1	-	4	895	c.879C>T	c.(877-879)ccC>ccT	p.P293P	CEACAM20_uc010ejo.1_Silent_p.P293P|CEACAM20_uc010ejp.1_Silent_p.P293P|CEACAM20_uc010ejq.1_Silent_p.P293P	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	293	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGCAGGAGGGGCTGGCCAC	0.567000														310			147		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150618	247150618	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247150618C>T	uc009xgu.3	-	3	1384	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	400					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTATGAATTCTCTTATGCTG	0.393000														17			31		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43028124	43028124	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:43028124G>A	uc001zql.3	-	2	839	c.722C>T	c.(721-723)cCc>cTc	p.P241L	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	241						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACCCTGGGGGAAGGCCAAG	0.622000														41			17		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080522	55080522	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55080522C>T	uc001cxn.3	-	3	558	c.426G>A	c.(424-426)ctG>ctA	p.L142L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	142						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCTTGAAGTCCAGTTTGATGC	0.567000														56			18		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33062139	33062139	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:33062139G>A	uc003zsf.1	-	4	646	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SMU1_uc011lnu.1_Missense_Mutation_p.P19S	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	180						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GTCATACCAGGAGGAAGCAAT	0.423000														50			22		0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24021069	24021069	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:24021069G>A	uc002rek.4	-	18	2875	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	ATAD2B_uc002rei.4_Missense_Mutation_p.S860L|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S28L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	860							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGAAAATGATGGTATATC	0.358000														16			8		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025022	130025022	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:130025022T>C	uc003vpx.3	+	7	895	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CPA1_uc003vpw.2_Missense_Mutation_p.Y109H	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	275					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Y275*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CTCGGAGACTTACCACGGCAA	0.552000														37			43		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731085	57731085	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:57731085C>T	uc010bfw.3	+	2	1081	c.888C>T	c.(886-888)tcC>tcT	p.S296S	CGNL1_uc002aeg.3_Silent_p.S296S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	296	Head.|Poly-Ser.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCGGAGGTCCTCCTCGTCAT	0.552000														17			7		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605035	140605035	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140605035C>T	uc003ljb.3	+	0	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTCGCTCGGCCACCGCC	0.721000														56			10		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101068621	101068621	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:101068621C>G	uc004ays.3	-	14	2471	c.2011G>C	c.(2011-2013)Ggt>Cgt	p.G671R		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	671					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.F670F(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGAAACAACCGAACAACTGA	0.527000														15			8		0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38242045	38242045	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:38242045G>A	uc001ize.1	-	5	486	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ZNF25_uc001izf.1_Silent_p.F91F	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACTTCTGGCAGAAGAACTTCC	0.408000														62			52		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490813	65490813	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:65490813G>A	uc002aon.2	-	8	1992	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	604					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACTCCTGGATGGAATCTCCAG	0.532000														72			41		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120753	41120753	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41120753C>T	uc001zmz.3	-	0	155	c.87G>A	c.(85-87)agG>agA	p.R29R	PPP1R14D_uc001zmy.3_Silent_p.R29R	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	29					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGTCCTTCTCCTCCCAGAAG	0.567000														47			12		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10429025	10429025	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:10429025G>A	uc002moa.3	-	10	2000	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Silent_p.F8F	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	469						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TCCGTTCGCCGAAGCCACTGG	0.612000														12			4		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383145	152383145	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152383145C>T	uc001ezx.2	-	2	487	c.413G>A	c.(412-414)aGa>aAa	p.R138K		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	138					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTCTGTCTGTGGCTGCT	0.632000														58			148		0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54706582	54706582	+	Silent	SNP	G	A	A	rs142992203		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:54706582G>A	uc001cxe.3	-	12	1263	c.852C>T	c.(850-852)ccC>ccT	p.P284P	SSBP3_uc001cxf.3_Silent_p.P264P|SSBP3_uc001cxg.3_Silent_p.P257P	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA.	284	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTTACCTGCGGGACTGGGCA	0.592000														118			42		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145158836	145158836	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:145158836G>A	uc002tvu.3	-	6	1368	c.846C>T	c.(844-846)ttC>ttT	p.F282F	ZEB2_uc010zbm.2_Silent_p.F258F|ZEB2_uc002tvv.3_Silent_p.F276F|ZEB2_uc010fnp.3_Silent_p.F190F|ZEB2_uc010fnq.1_Silent_p.F311F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	282						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGCATTTGAACTTGCGAT	0.433000														72			47		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101806	21101806	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:21101806G>A	uc001iqi.3	-	23	2807	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.P141S|NEBL_uc021pnu.1_Missense_Mutation_p.P141S	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	804					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTGTCACAGGATCGTCCACG	0.468000														27			24		0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202687611	202687611	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:202687611C>T	uc002uyt.2	+	4	577	c.528C>T	c.(526-528)ttC>ttT	p.F176F	CDK15_uc010ftm.3_Silent_p.F41F|CDK15_uc002uys.2_Silent_p.F125F|CDK15_uc010ftn.1_Silent_p.F125F|CDK15_uc010fto.1_Silent_p.F176F	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	176	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACTGACATTCGTTTTTGAAT	0.343000														66			45		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599902	17599902	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:17599902G>A	uc001bai.3	+	9	1155	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	372					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GACTCCCCAAGGAATGGGGAA	0.612000														30			29		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054583	67054583	+	Missense_Mutation	SNP	C	T	T	rs149863845		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:67054583C>T	uc003dmy.3	+	2	1245	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	398										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCGGAGGTCGTGTTTATGA	0.443000														78			34		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70166106	70166106	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70166106C>T	uc002eyf.1	+	8	1857	c.900C>T	c.(898-900)atC>atT	p.I300I	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.I200I|PDPR_uc002eyg.1_Silent_p.I28I	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	300					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGGGTGGCATCCTGTCTGGGG	0.473000														45			15		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716805	151716805	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151716805G>A	uc003wkp.3	+	8	1521	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	GALNTL5_uc010lqf.3_Silent_p.R306R|GALNTL5_uc003wkq.3_Silent_p.R168R|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	417						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTGAGTTAAGGAAACGACTGG	0.413000														30			43		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40405948	40405948	+	Missense_Mutation	SNP	G	C	C	rs139504445		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:40405948G>C	uc002omp.4	-	9	4906	c.4898C>G	c.(4897-4899)tCc>tGc	p.S1633C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1633	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATGCCTCCGGAGGGCTGGCA	0.632000														37			3		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142269040	142269040	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:142269040C>G	uc003eux.4	-	13	3032	c.2910G>C	c.(2908-2910)atG>atC	p.M970I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	970					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTTAAAGCCATTTCTCTCT	0.418000								Other conserved DNA damage response genes						29			23		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395964	156395964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:156395964C>T	uc003fav.3	+	1	900	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Nonsense_Mutation_p.Q160*|TIPARP_uc021xgg.1_Nonsense_Mutation_p.Q160*	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	160							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.Q160Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCTCACTTCCAGACTGATCT	0.463000														62			33		0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064740	129064740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:129064740C>T	uc011kov.2	+	13	1649	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	AHCYL2_uc003vot.3_Missense_Mutation_p.S528F|AHCYL2_uc003vov.3_Missense_Mutation_p.S426F|AHCYL2_uc011kox.2_Missense_Mutation_p.S426F	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	529					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CTTAGCTGCTCCACAGTGCCT	0.512000														114			40		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140249718G>A	uc003lia.2	+	0	1888	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D344N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	360	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000														33			11		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398497	10398497	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:10398497C>T	uc002mnr.2	+	1	649	c.603C>T	c.(601-603)acC>acT	p.T201T	ICAM4_uc002mns.2_Missense_Mutation_p.P227L|ICAM4_uc002mnt.2_Missense_Mutation_p.P227L|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCTCGGCACCCATTACACTG	0.632000														57			21		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755144	48755144	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:48755144G>A	uc002isl.3	+	23	3498	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1140	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAAGCGGCTGGAATCAGTCAG	0.572000														167			90		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363515	56363515	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56363515C>T	uc002qmd.4	+	1	491	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	23	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGGAGTTCAGGAAATTTA	0.433000														77			45		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899470	156899470	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156899470G>A	uc003lwx.4	+	5	1019	c.903G>A	c.(901-903)gtG>gtA	p.V301V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.V282V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	301						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCTTCTCTGTGGCTGCTGTCA	0.557000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			74		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805843	20805843	+	RNA	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:20805843C>T	uc002gyg.1	+	3		c.1027C>T			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TTGCAGATTTCCTGACAAAGT	0.512000														6			5		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73205660	73205660	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:73205660G>A	uc010izf.3	+	33	4761	c.4585G>A	c.(4585-4587)Ggc>Agc	p.G1529S	RGNEF_uc011csq.2_Missense_Mutation_p.G1529S|RGNEF_uc021yam.1_Missense_Mutation_p.G1529S|RGNEF_uc011csr.2_Missense_Mutation_p.G1216S|RGNEF_uc003kcz.4_Missense_Mutation_p.G493S|RGNEF_uc003kda.4_Missense_Mutation_p.G449S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1529	Interaction with microtubules (By similarity).				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GAGCCTGCTGGGCCACTGGAA	0.701000														7			4		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37591677	37591677	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37591677A>G	uc002yvg.3	+	9	1216	c.1137A>G	c.(1135-1137)caA>caG	p.Q379Q	DOPEY2_uc011aeb.2_Silent_p.Q379Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	379					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGGCCTCAAGTGGTTGGGA	0.393000														78			34		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870745	101870745	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:101870745C>T	uc003uys.4	+	20	3389	c.3262C>T	c.(3262-3264)Ccc>Tcc	p.P1088S	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P1077S	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1077					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGTCCAGCAGCCCTGTCCCCC	0.657000														107			24		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524043	24524043	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:24524043G>A	uc002wtw.1	+	1	943	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	104					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCCTGGGGGGACGGTGTGGC	0.637000														68			29		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425608	143425608	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143425608G>A	uc003ywj.3	-	2	503	c.464C>T	c.(463-465)gCc>gTc	p.A155V	TSNARE1_uc011lju.2_Missense_Mutation_p.A155V|TSNARE1_uc003ywk.3_Missense_Mutation_p.A155V|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	155					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGTGGGCTCGGCCTTCAGCAG	0.637000														27			22		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580141	7580141	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:7580141G>A	uc003mxp.1	+	22	3997	c.3718G>A	c.(3718-3720)Gat>Aat	p.D1240N	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.D1240N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1240	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACCAGCTTGATAGACTTTC	0.413000														29			18		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749392	234749392	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234749392G>C	uc002vvg.3	-	7	2100	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	HJURP_uc010znd.2_Missense_Mutation_p.F617L|HJURP_uc010zne.2_Missense_Mutation_p.F586L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	678					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTTTTGCAGGGAACTGATGGT	0.577000														53			34		0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77130979	77130979	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:77130979G>A	uc004fof.3	-	1	376	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.S105F	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	73					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GACGATAACGGAGTAATTTCT	0.408000														39			77		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240517	3240517	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3240517C>T	uc004crg.4	-	4	3366	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1070						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGCATATTTCCTCCCTGTAG	0.458000														10			37		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646941	61646941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:61646941G>A	uc001nsm.3	-	2	518	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	122					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATGTCCTCGGCTGCCTGGTG	0.597000														9			8		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420780	11420780	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:11420780G>A	uc001qzs.3	-	2	441	c.403C>T	c.(403-405)Ccg>Tcg	p.P135S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	135	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.P135L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACGAGGCGGGGGACCTTGG	0.642000														149			73		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480269	140480269	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140480269G>A	uc003lio.3	+	0	36	c.36G>A	c.(34-36)agG>agA	p.R12R	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	12					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGACAAAGGCAAGTCTTGC	0.507000														19			19		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739546	20739546	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:20739546C>T	uc010kuh.3	+	17	2490	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	ABCB5_uc003suw.4_Silent_p.F306F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	306	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTATTTCATGCAGGTAA	0.294000														16			25		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717634	109717634	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:109717634T>C	uc001toe.4	-	9	1501	c.1396A>G	c.(1396-1398)Acc>Gcc	p.T466A	FOXN4_uc009zvg.3_Missense_Mutation_p.T263A|FOXN4_uc001tof.4_Missense_Mutation_p.T286A	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	466					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G284_P287>A(1)		large_intestine(5)|lung(9)|ovary(2)	16						GAGGCAGGGGTTAGGCCTGAG	0.627000														19			8		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521541	156521541	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:156521541G>A	uc001fpf.3	-	14	1765	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	IQGAP3_uc009wsb.1_Missense_Mutation_p.R521W	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	564					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATGGTACCGAGGGGCGACA	0.567000														32			16		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750058	141750058	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:141750058C>T	uc003vwy.3	+	22	2665	c.2611C>T	c.(2611-2613)Ctt>Ttt	p.L871F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	871	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTGTATCTTTTATGTGA	0.413000														167			53		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890235	51890235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51890235G>A	uc003pah.1	-	31	4649	c.4373C>T	c.(4372-4374)tCc>tTc	p.S1458F	PKHD1_uc003pai.3_Missense_Mutation_p.S1458F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1458	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTTCAGGGAGAAGGAAGC	0.527000														10			19		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946321	150946321	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:150946321G>A	uc003lue.4	-	0	2185	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	FAT2_uc010jhx.1_Silent_p.V724V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	724	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCTCAAGGACATCAATGG	0.483000														57			59		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155171226	155171226	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:155171226A>G	uc001fix.3	-	10	1416	c.1311T>C	c.(1309-1311)aaT>aaC	p.N437N	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_Silent_p.N317N|THBS3_uc009wqi.3_Silent_p.N428N|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	437	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACACTGCACCATTGCGTTCAA	0.622000														61			27		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547853	35547853	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:35547853T>C	uc011dte.1	-	8	1189	c.986A>G	c.(985-987)aAg>aGg	p.K329R	FKBP5_uc003okx.2_Missense_Mutation_p.K329R|FKBP5_uc011dtf.1_Missense_Mutation_p.K150R|FKBP5_uc003oky.2_Missense_Mutation_p.K329R	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	329					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTCTCTAAGCTTCAGGTAGCA	0.428000														58			34		0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49446846	49446846	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:49446846G>A	uc002xvq.3	+	2	347	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	BCAS4_uc002xvp.1_Missense_Mutation_p.E95K|BCAS4_uc002xvr.3_Missense_Mutation_p.E95K|BCAS4_uc002xvs.3_Missense_Mutation_p.E95K	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	95						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GATCCTGGAGGAAAACATCCC	0.517000														31			12		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531347	140531347	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140531347C>T	uc003lir.3	+	0	1509	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGTCTCCATCAACGCGG	0.667000														42			47		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45442	45442	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:45442C>T	uc010yim.2	-	0	1147	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	315						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCACACACCTCGGGTCCGGCT	0.632000														39			15		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71780317	71780317	+	Splice_Site	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:71780317C>G	uc010fen.3	+	20	2125	c.1984_splice	c.e20+1	p.G662_splice	DYSF_uc010fei.3_Splice_Site_p.G661_splice|DYSF_uc010feh.3_Splice_Site_p.G630_splice|DYSF_uc002sig.4_Splice_Site_p.G630_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.G675_splice|DYSF_uc010fee.3_Splice_Site_p.G644_splice|DYSF_uc010fef.3_Splice_Site_p.G661_splice|DYSF_uc002sie.3_Splice_Site_p.G644_splice|DYSF_uc010feo.3_Splice_Site_p.G676_splice|DYSF_uc010fej.3_Splice_Site_p.G631_splice|DYSF_uc010fel.3_Splice_Site_p.G631_splice|DYSF_uc010fem.3_Splice_Site_p.G645_splice|DYSF_uc002sif.3_Splice_Site_p.G645_splice|DYSF_uc010fek.3_Splice_Site_p.G662_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	644						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTCTTTGACGGTGAGGCAG	0.587000														43			24		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749390	234749390	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234749390G>A	uc002vvg.3	-	7	2102	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	HJURP_uc010znd.2_Missense_Mutation_p.P618L|HJURP_uc010zne.2_Missense_Mutation_p.P587L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	679					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCTTTTTGCAGGGAACTGATG	0.572000														53			33		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567205	4567205	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4567205C>T	uc010qyf.2	+	0	785	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTTTCTTCCCTGATTCAC	0.502000														40			23		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666393	34666393	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:34666393G>A	uc001bxt.3	+	2	1868	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	C1orf94_uc001bxs.4_Missense_Mutation_p.E154K	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	154							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGGCACCAAGGAGCCAAAAAA	0.562000														83			24		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719488	108719488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:108719488C>T	uc003dxl.3	-	20	2190	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	MORC1_uc011bhn.2_Missense_Mutation_p.M680I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	701					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTTCCTTTTCATTTCCCAAG	0.363000														59			17		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400220	78400220	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:78400220C>T	uc001syp.3	+	7	1075	c.902C>T	c.(901-903)tCg>tTg	p.S301L	NAV3_uc001syo.3_Missense_Mutation_p.S301L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	301						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGACCTCAATCGTCTTCAGGT	0.458000										HNSCC(70;0.22)				50			22		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092833	72092833	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:72092833C>T	uc001sws.3	+	4	1374	c.791C>T	c.(790-792)gCt>gTt	p.A264V	TMEM19_uc001swr.1_Missense_Mutation_p.A250V	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	264						integral to membrane		p.A264A(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GGTGGTTTAGCTGGATTACTA	0.403000														56			23		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101491710	101491710	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:101491710G>A	uc010svm.1	+	20	2565	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	ANO4_uc001thw.2_Missense_Mutation_p.E630K|ANO4_uc001thx.2_Missense_Mutation_p.E665K|ANO4_uc001thy.2_Missense_Mutation_p.E185K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	665						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						taatttcatggaacttggcta	0.413000										HNSCC(74;0.22)				42			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747425	21747425	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:21747425C>T	uc003svc.3	+	40	6707	c.6676C>T	c.(6676-6678)Cat>Tat	p.H2226Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2226	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H2226H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTCATACATCATGCTACCCG	0.383000									Kartagener syndrome					39			9		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372516	151372516	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151372516G>A	uc003wkk.3	-	3	1285	c.674C>T	c.(673-675)cCc>cTc	p.P225L	PRKAG2_uc011kvl.2_Missense_Mutation_p.P101L|PRKAG2_uc003wkj.3_Missense_Mutation_p.P181L|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.P225L	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	225					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCTTTGGAGGGAGCATAGTG	0.627000														25			26		0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	156074493	156074493	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156074493C>T	uc003lwc.4	+	6	1041	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SGCD_uc003lwb.3_Silent_p.F174F|SGCD_uc003lwd.4_Silent_p.F173F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACAGTGTTCCCTAAATCTA	0.438000														108			87		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805766	115805766	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:115805766C>A	uc011lwz.1	-	3	1205	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	ZFP37_uc004bgm.1_Nonsense_Mutation_p.E378*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.E379*	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGCACATTCATAGGGCTTT	0.418000														48			26		2.61193e-14	2.64796e-14	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51524127	51524128	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51524127_51524128GT>AA	uc003pah.1	-	60	11072_11073	c.10796_10797AC>TT	c.(10795-10797)cac>cTT	p.H3599L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3599					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGCATCTCGTGAATAAACCT	0.406000														12			29		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27264135	27264135	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:27264135C>T	uc002ylz.3	-	16	2310	c.2110G>A	c.(2110-2112)Gga>Aga	p.G704R	APP_uc011acg.2_Missense_Mutation_p.G212R|APP_uc010glk.3_Missense_Mutation_p.G680R|APP_uc002yma.3_Missense_Mutation_p.G685R|APP_uc011ach.2_Missense_Mutation_p.G648R|APP_uc021whz.1_Missense_Mutation_p.G686R|APP_uc021wia.1_Missense_Mutation_p.G667R|APP_uc002ymb.3_Missense_Mutation_p.G629R|APP_uc010glj.3_Missense_Mutation_p.G573R|APP_uc021wib.1_Missense_Mutation_p.G611R|APP_uc011aci.2_Missense_Mutation_p.G594R	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	704		Implicated in free radical propagation (By similarity).			G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ACCATGAGTCCAATGATTGCA	0.383000														24			17		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72192259	72192259	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:72192259A>G	uc002atl.4	-	23	3712	c.3239T>C	c.(3238-3240)cTt>cCt	p.L1080P	MYO9A_uc010biq.3_Missense_Mutation_p.L700P|MYO9A_uc002atn.1_Missense_Mutation_p.L1061P|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1080	IQ 3.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCTTGGAGAAGAGCAGCTGC	0.488000														25			8		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36209113	36209113	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:36209113C>T	uc001bzi.3	-	16	3065	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	CLSPN_uc009vux.3_Silent_p.E931E	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	995					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding	p.E994*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAATTCCTCCTCCTCGTCTT	0.343000														67			25		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898380	159898380	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:159898380C>T	uc001fur.2	-	18	2996	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	IGSF9_uc001fuq.2_Missense_Mutation_p.R917Q|IGSF9_uc001fup.2_Missense_Mutation_p.R79Q	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	933	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCATCTCTCGGAAGAAGGG	0.627000														6			4		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	A	A	rs141931276		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:55086445G>A	uc010ern.3	+	4	1069	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCT	0.577000														85			54		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231152654	231152654	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:231152654G>A	uc002vql.3	+	17	1808	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.A451T|SP140_uc002vqm.3_Missense_Mutation_p.A505T|SP140_uc010fxl.3_Missense_Mutation_p.A538T	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	565					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGTGACAGAGCTGCACAGAA	0.398000														20			11		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	T	T	rs75633112		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:119727733C>T	uc002tln.1	+	2	375	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MARCO_uc010yyf.1_Silent_p.F3F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000														66			29		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83289650	83289650	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:83289650C>T	uc001szt.3	+	2	1140	c.708C>T	c.(706-708)tcC>tcT	p.S236S	TMTC2_uc001szr.1_Silent_p.S236S|TMTC2_uc001szs.1_Silent_p.S236S|TMTC2_uc010suk.2_5'UTR	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	236						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCTGGGGTTCCTCCCTTTTGG	0.453000														67			49		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701714	103701714	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103701714C>T	uc001vpy.4	-	4	1441	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	282					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACATTGAGCTCCTCAGGAGTG	0.473000														44			34		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339891	55339891	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:55339891G>A	uc010rih.2	+	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCGAGTGCATGATCCAAGTCT	0.468000														126			72		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924005	105924005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:105924005G>A	uc001pja.3	-	3	2051	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S	KBTBD3_uc001pjb.3_Missense_Mutation_p.P471S|KBTBD3_uc009yxm.3_Missense_Mutation_p.P392S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	467										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCAAGTGATGGGTTAAAAGCA	0.368000														19			12		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079507	57079507	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:57079507G>A	uc003xsq.4	-	2	1249	c.798C>T	c.(796-798)ctC>ctT	p.L266L	PLAG1_uc003xsr.4_Silent_p.L266L|PLAG1_uc010lyi.3_Silent_p.L266L|PLAG1_uc010lyj.3_Silent_p.L184L|PLAG1_uc022aur.1_Silent_p.L184L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	266	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E265*(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCACCGGAAGGAGCTCGTCTT	0.433000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									105			87		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199481	96199481	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:96199481C>T	uc003hto.3	-	3	876	c.523G>A	c.(523-525)Gga>Aga	p.G175R	UNC5C_uc010ilc.2_Missense_Mutation_p.G175R|UNC5C_uc003htq.3_Missense_Mutation_p.G175R	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	175	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACTTCCTTTCCTAGGGGTTCC	0.408000														35			29		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564140	140564140	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140564140C>T	uc003liv.3	+	0	3161	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTTCCTGCCG	0.692000														28			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731925	140731925	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140731925C>T	uc003ljo.2	+	0	2098	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.L700F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	706					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCTCTTTCTCCTCGCGGT	0.607000														67			67		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802109	27802109	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27802109C>T	uc002rkz.4	+	0	2721	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	890										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATCTCTCCACTATGCTAA	0.463000														62			51		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84780102	84780102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:84780102G>A	uc010fgb.3	+	9	1683	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	DNAH6_uc002soo.3_Missense_Mutation_p.E95K|DNAH6_uc002sop.3_Missense_Mutation_p.E95K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	516	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTTCTCACAGAACTAATGTT	0.403000														69			26		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64833072	64833072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:64833072C>T	uc001ssb.3	+	22	3288	c.2782C>T	c.(2782-2784)Caa>Taa	p.Q928*		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	928	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCCCTCCTTGCAAGTAGCTCC	0.403000														33			8		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278629	27278629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27278629C>T	uc001bni.2	-	1	336	c.243G>A	c.(241-243)tgG>tgA	p.W81*	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	81	Cys-rich.							p.W81*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTCCCACACCCAGGGTCGCC	0.672000														31			12		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511969	61511969	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:61511969G>C	uc002ydr.2	-	15	5651	c.5339C>G	c.(5338-5340)cCg>cGg	p.P1780R	DIDO1_uc002yds.2_Missense_Mutation_p.P1780R	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1780	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCTGGAAACGGAGGGGCTGG	0.627000														82			40		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558490	149558490	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:149558490C>T	uc010lpn.3	+	6	2433	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	747					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAGTGTGACCGGCACATCC	0.617000														58			18		0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41660835	41660835	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:41660835C>T	uc003azs.3	-	3	1783	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RANGAP1_uc003azt.3_Missense_Mutation_p.E105K|RANGAP1_uc003azu.3_Missense_Mutation_p.E105K|RANGAP1_uc011aoz.2_Missense_Mutation_p.E95K	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	105					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAGTCCTTCCCCTAGTGAG	0.597000														55			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090068	9090068	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9090068C>T	uc002mkp.3	-	0	1951	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	583	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						GATGTTTCTTCAAGCCAAATC	0.532000														30			10		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722742	145722742	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:145722742G>A	uc003zdd.3	+	1	1078	c.165G>A	c.(163-165)cgG>cgA	p.R55R	AK094577_uc003zde.1_Silent_p.F124F|PPP1R16A_uc003zdf.3_Silent_p.R55R	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	55				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGTCCCCGGAAGGAGGCAG	0.647000														24			14		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696356	109696356	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:109696356G>A	uc004eor.2	+	2	2757	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	RGAG1_uc011msr.1_Silent_p.V837V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	837										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGCCACAAGTGAAGGCTCCCA	0.537000														25			80		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959234	143959234	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143959234C>T	uc010mey.3	-	3	554	c.547G>A	c.(547-549)Gga>Aga	p.G183R	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAGGAATTTCCCCTGTCAGCC	0.522000									Familial Hyperaldosteronism type I					83			6		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558286	140558286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140558286C>T	uc011dai.2	+	0	916	c.671C>T	c.(670-672)tCt>tTt	p.S224F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCCAGATCTGGCACTGCT	0.517000														163			12		0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46133221	46133221	+	Silent	SNP	C	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:46133221C>A	uc010xxm.2	-	9	1270	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	EML2_uc002pcn.3_Silent_p.V198V|EML2_uc002pcp.3_Silent_p.V82V|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.V345V|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.V198V|EML2_uc010ekj.3_Silent_p.V198V|EML2_uc010ekk.1_Non-coding_Transcript	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	198					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGACATCCACCACCTTGGTCT	0.527000														32			14		1.3612e-06	1.37187e-06	1	1	0
NODAL	4838	broad.mit.edu	37	10	72195531	72195531	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:72195531C>T	uc001jrc.2	-	1	444	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	134					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGAATAGGTCCATCTGAAACC	0.557000														47			21		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225194	49225194	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:49225194C>T	uc010zyt.2	-	9	1017	c.766G>A	c.(766-768)Gag>Aag	p.E256K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E252K|FAM65C_uc002xvn.1_Missense_Mutation_p.E252K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	252										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGCCTTCTCCTCTTCGTCC	0.642000														69			35		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905064	234905064	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234905064C>T	uc002vvh.3	+	21	3074	c.3034C>T	c.(3034-3036)Ccc>Tcc	p.P1012S	TRPM8_uc010fyj.3_Missense_Mutation_p.P590S|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	1012						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCAATATCCCCTTCCCCTT	0.522000														49			25		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805363	20805363	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:20805363G>A	uc009yid.3	+	3	559	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E108K|NELL1_uc001mqf.3_Missense_Mutation_p.E108K|NELL1_uc010rdo.2_Missense_Mutation_p.E108K	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	108	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCATTCGAGAACTGGAGCA	0.413000														41			15		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688708	26688708	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:26688708G>A	uc003acb.3	+	1	627	c.431G>A	c.(430-432)aGg>aAg	p.R144K	SEZ6L_uc003acd.3_Missense_Mutation_p.R144K|SEZ6L_uc011akd.2_Missense_Mutation_p.R144K|SEZ6L_uc003ace.3_Missense_Mutation_p.R144K|SEZ6L_uc011akc.2_Missense_Mutation_p.R144K|SEZ6L_uc003acc.3_Missense_Mutation_p.R144K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	144						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGTCCAAAGGGCAGGGTCC	0.667000														21			11		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607423	46607423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:46607423G>A	uc002ruv.3	+	11	2122	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	EPAS1_uc002ruw.3_Missense_Mutation_p.E4K	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	538	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATGGACGGGGAAGACTTCCA	0.587000														83			35		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104142922	104142922	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104142922G>A	uc001tjw.3	+	58	6612	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2142	EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCACCTGTAAGATGACAGGCC	0.592000														34			16		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24339714	24339714	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:24339714A>G	uc003xeb.3	+	8	878	c.765A>G	c.(763-765)gaA>gaG	p.E255E	ADAM7_uc003xec.3_Silent_p.E27E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	255	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGACACATGAAGATAAAATAG	0.308000														8			18		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:47281984A>G	uc009ylm.3	+	3	507	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_uc010rhk.2_Missense_Mutation_p.K92R|NR1H3_uc009yll.2_Missense_Mutation_p.K92R|NR1H3_uc001nek.3_Missense_Mutation_p.K41R|NR1H3_uc001nen.4_Missense_Mutation_p.K86R|NR1H3_uc001nem.3_Missense_Mutation_p.K86R	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567000														95			4		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102480636	102480636	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:102480636C>T	uc001phc.3	-	4	662	c.649_splice	c.e4+1	p.G217_splice		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	217					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GCATATATACCATTCGTTCCC	0.483000														35			17		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31422943	31422943	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:31422943G>A	uc003jhg.2	-	27	3729	c.3370C>T	c.(3370-3372)Ctg>Ttg	p.L1124L	DROSHA_uc003jhh.2_Silent_p.L1087L|DROSHA_uc003jhi.2_Silent_p.L1087L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1124	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCCCTTGCCAGAAGTCGAACA	0.393000														30			11		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94733881	94733881	+	Silent	SNP	T	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:94733881T>A	uc010qnr.2	+	18	2036	c.1893T>A	c.(1891-1893)ctT>ctA	p.L631L	EXOC6_uc001kie.3_Silent_p.L610L|EXOC6_uc001kig.3_Silent_p.L615L|EXOC6_uc009xub.3_Silent_p.L614L|EXOC6_uc009xuc.3_Silent_p.L512L|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Silent_p.L189L	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	615					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTGTTCAGCTTGCTGATTATG	0.363000														244			192		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35633959	35633959	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:35633959C>T	uc002hnm.3	-	6	849	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	ACACA_uc002hnk.3_Missense_Mutation_p.E142K|ACACA_uc002hnl.3_Missense_Mutation_p.E162K|ACACA_uc002hnn.3_Missense_Mutation_p.E220K|ACACA_uc002hno.3_Missense_Mutation_p.E257K|ACACA_uc010cuz.3_Missense_Mutation_p.E220K|ACACA_uc002hnq.2_Missense_Mutation_p.E142K	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	220	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAGAGAAGTTCCGGTAGTTTG	0.418000														104			47		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643086	1643086	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:1643086C>T	uc002qxa.3	-	19	4125	c.4061G>A	c.(4060-4062)cGg>cAg	p.R1354Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1354					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.R1354W(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGTATTTTCCGTGGTCTTGT	0.577000														14			6		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434800	118434800	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:118434800G>A	uc001lct.3	-	11	1625	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	HSPA12A_uc001lcu.3_Missense_Mutation_p.P424L	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	507							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CACGTCCTGGGGGATGATGAT	0.667000														20			5		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	908974	908974	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:908974C>T	uc001ace.3	+	11	1579	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	PLEKHN1_uc001acd.3_Missense_Mutation_p.P463L|PLEKHN1_uc001acf.3_Missense_Mutation_p.P428L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	515										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TACACACCACCCGCCACCTCC	0.657000														52			57		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044239	163044239	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:163044239C>T	uc001gcl.4	+	5	1127	c.798C>T	c.(796-798)ctC>ctT	p.L266L	RGS4_uc009wuy.3_Silent_p.L169L|RGS4_uc009wuz.3_3'UTR|RGS4_uc009wva.3_Silent_p.L151L	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	169					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCCGCTTCCTCAAGTCTCGAT	0.507000														167			89		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:215916657G>A	uc001hku.1	-	58	11797	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)				46			22		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81635619	81635619	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:81635619C>T	uc021ssk.1	-	15	1715	c.1715_splice	c.e15+1	p.W572_splice	TMC3_uc021ssj.1_Splice_Site_p.W572_splice|TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.3_Splice_Site_p.W572_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGATACCTACCAAATCATTCC	0.348000														40			23		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	96997712	96997712	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:96997712A>G	uc001kkh.3	-	6	1069	c.960T>C	c.(958-960)ggT>ggC	p.G320G		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	320					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCACTTCATAACCCTCAGGTG	0.537000														31			7		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411147	5411147	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5411147C>T	uc010qzc.2	+	0	541	c.519C>T	c.(517-519)ctC>ctT	p.L173L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	173						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATTGTCCTCCTCCTGAAGG	0.527000														117			92		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21871433	21871433	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrY:21871433G>A	uc004fug.3	-	19	3134	c.2846C>T	c.(2845-2847)tCc>tTc	p.S949F	KDM5D_uc011naz.2_Missense_Mutation_p.S980F|KDM5D_uc010nwy.3_Missense_Mutation_p.S892F|KDM5D_uc011nba.1_3'UTR|KDM5D_uc004fuf.3_Missense_Mutation_p.S124F	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	949					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGAAGGGCTGGAGGCTATCTT	0.577000														4			18		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54799319	54799319	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:54799319T>C	uc021smr.1	+	20	5300	c.5300T>C	c.(5299-5301)aTc>aCc	p.I1767T	UNC13C_uc021sms.1_Missense_Mutation_p.I1769T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1769	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTAGACTATCAATAAAGTG	0.313000														8			5		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99597063	99597063	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:99597063A>G	uc010nmz.3	-	4	4362	c.2686T>C	c.(2686-2688)Ttc>Ctc	p.F896L	PCDH19_uc004efw.4_Missense_Mutation_p.F848L|PCDH19_uc004efx.4_Missense_Mutation_p.F849L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	896					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AAGTCCTTGAAGGTGGAGCTG	0.463000														5			37		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955372	32955372	+	Silent	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:32955372A>G	uc001mty.3	+	3	2448	c.2181A>G	c.(2179-2181)ttA>ttG	p.L727L	QSER1_uc001mtz.1_Silent_p.L488L|QSER1_uc001mua.3_Silent_p.L232L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	727	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGGTCCTTTTAGATTCTGCCT	0.413000														29			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085370	9085370	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9085370C>T	uc002mkp.3	-	0	6649	c.6445G>A	c.(6445-6447)Gcc>Acc	p.A2149T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2149	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTTATGGCCATTGGAAGA	0.493000														31			24		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156166	33156166	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:33156166G>A	uc003ocx.1	-	3	807	c.579C>T	c.(577-579)gcC>gcT	p.A193A	COL11A2_uc003ocy.1_Silent_p.A193A|COL11A2_uc003ocz.1_Silent_p.A193A|COL11A2_uc003oda.3_Silent_p.A193A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	193	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGAATACGGGCACCAAAGA	0.542000														68			26		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190259	101190259	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:101190259C>T	uc001dti.3	+	3	962	c.741C>T	c.(739-741)tcC>tcT	p.S247S	VCAM1_uc010ouj.2_Silent_p.S185S|VCAM1_uc001dtj.3_Silent_p.S247S	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	247	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGACCTGTTCCAGCGAGGGTC	0.418000														12			38		0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71243542	71243542	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:71243542C>T	uc001jpo.1	+	1	317	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	64						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CTCCAGCCATCATCCTCATCC	0.552000														37			30		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587513	42587513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:42587513C>T	uc003xpi.1	+	4	1191	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	355					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R355C(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATGTGGATCGCTACTCATC	0.448000														43			19		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536047	69536047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:69536047C>T	uc021xow.1	-	0	448	c.290G>A	c.(289-291)tGg>tAg	p.W97*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	97					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACCATATATCCATCTATCGAG	0.284000														60			43		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94908971	94908971	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94908971C>T	uc001ydd.1	-	4	1301	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	414					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACAACTTTTCCCAGGAAGAG	0.537000														2			5		0	0	1	0	0
ATPBD4	89978	broad.mit.edu	37	15	35830580	35830580	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:35830580G>A	uc001zja.3	-	2	269	c.207C>T	c.(205-207)ctC>ctT	p.L69L	ATPBD4_uc001zjb.2_Silent_p.L69L	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	69										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		TTCGGCGATAGAGGGGAAGAG	0.453000														56			47		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928311	31928311	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31928311C>T	uc003nyn.1	+	4	846	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	153						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AACTCAGTATCCCTTCTGGCC	0.542000														271			147		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897305	6897305	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:6897305C>T	uc002mfw.3	+	3	422	c.384C>T	c.(382-384)ttC>ttT	p.F128F	EMR1_uc010dvc.3_Silent_p.F128F|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Silent_p.F128F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	128	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CGGGCAATTTCTCCTGTACTG	0.493000														34			16		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593740	25593740	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:25593740G>A	uc002kwg.2	-	2	765	c.306C>T	c.(304-306)ttC>ttT	p.F102F	CDH2_uc010xbn.1_Silent_p.F71F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	102					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.F102S(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATATATCAGGAACTTGGCAT	0.458000														83			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347907	140347907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140347907C>T	uc003lii.3	+	0	2161	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.T519I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	519	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCAGTCACCTCCTATGTC	0.507000														18			36		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406001	3406001	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:3406001C>T	uc002cuw.1	+	0	113	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCAGACCATCCCCAGCTGGA	0.493000														54			27		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315812	125315812	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125315812C>T	uc011lyx.2	+	0	364	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATATTTCCTCCTTATGTTTGG	0.493000														92			62		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041341	42041341	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:42041341A>G	uc001cgz.4	-	4	6294	c.5081T>C	c.(5080-5082)gTt>gCt	p.V1694A	HIVEP3_uc001cha.4_Missense_Mutation_p.V1694A|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1694					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCCGGGGAAACCAGTGAAGG	0.542000														67			21		0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756408	129756408	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:129756408C>T	uc003vpj.2	+	2	512	c.377C>T	c.(376-378)cCt>cTt	p.P126L	KLHDC10_uc003vpk.2_Missense_Mutation_p.P97L|KLHDC10_uc010lmb.2_Intron	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	126										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GAAGACTATCCTCTCTTCAGG	0.468000														114			33		0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092105	202092105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:202092105G>A	uc001gxj.3	+	0	77	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	5						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGGTGGCTGTGGCCCCTGGCT	0.667000														12			63		0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74917094	74917094	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:74917094G>A	uc003yad.3	+	1	290	c.176G>A	c.(175-177)gGa>gAa	p.G59E	LY96_uc022awb.1_Intron	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	59					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			AGATCCAAAGGATTATTGCAC	0.269000														52			21		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142140	133142140	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:133142140G>A	uc003ytj.3	-	14	2213	c.1988C>T	c.(1987-1989)aCc>aTc	p.T663I	KCNQ3_uc003yti.3_Missense_Mutation_p.T543I|KCNQ3_uc010mdt.3_Missense_Mutation_p.T651I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	663					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGCGAGGAGGTGCCCTTGGT	0.537000														86			45		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900535	51900535	+	Silent	SNP	G	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:51900535G>C	uc002iua.2	+	0	297	c.141G>C	c.(139-141)acG>acC	p.T47T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	47					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T47T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGTGGTCACGGAGATCAACA	0.527000														42			32		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951765	119951765	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:119951765C>T	uc010inb.3	+	3	2031	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	SYNPO2_uc010ina.3_Missense_Mutation_p.P612L|SYNPO2_uc003icm.4_Missense_Mutation_p.P612L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P540L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	612	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGACGAGTCCCATTGCTGAC	0.572000														62			37		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61318936	61318936	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:61318936C>T	uc001nrv.3	-	3	188	c.136_splice	c.e3-1	p.G46_splice	SYT7_uc009ynr.3_Splice_Site_p.G46_splice|SYT7_uc001nrx.1_Splice_Site	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	46						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCGTTTGCCCTGTGGAGATA	0.587000														47			24		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976406	121976406	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:121976406A>G	uc004bkc.2	-	5	1169	c.713T>C	c.(712-714)cTg>cCg	p.L238P	DBC1_uc004bkd.2_Missense_Mutation_p.L238P	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	238	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTCTCTTGCAGATACTGAGG	0.453000														24			17		0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464574	30464574	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:30464574C>T	uc003xig.3	-	6	896	c.643_splice	c.e6+1	p.E215_splice		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	215					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AAAAGCTCACCTTCATCCACA	0.289000														33			24		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478943	14478943	+	RNA	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:14478943C>T	uc010xai.2	-	2		c.621G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		GCTGTAAATTCGTTACATTTA	0.363000														16			15		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	427994	427994	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:427994C>T	uc003jav.3	+	8	890	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	AHRR_uc003jaw.3_Missense_Mutation_p.P265S|AHRR_uc010isy.3_Missense_Mutation_p.P111S|AHRR_uc010isz.3_Missense_Mutation_p.P261S|AHRR_uc003jax.3_Missense_Mutation_p.P24S|AHRR_uc003jay.3_Missense_Mutation_p.P121S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCATGCTCCCGCCGCGGCT	0.562000														22			10		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187486	152187486	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152187486G>A	uc001ezt.1	-	2	6695	c.6619C>T	c.(6619-6621)Cgt>Tgt	p.R2207C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2207					keratinization		calcium ion binding|protein binding	p.R2207C(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGAACGACCTGAGCCA	0.602000														446			12		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795746	69795746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:69795746G>A	uc003hef.2	-	5	1400	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGACTGCTCGATCTAGGGGC	0.448000														40			29		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508235	37508235	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:37508235C>T	uc021ppc.1	+	33	3526	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y	ANKRD30A_uc001iza.1_Missense_Mutation_p.H1143Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1199						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAATCACACCATCCTAGACT	0.398000														38			37		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99849347	99849347	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:99849347G>A	uc004efy.4	+	3	637	c.411G>A	c.(409-411)gaG>gaA	p.E137E	TNMD_uc004efz.2_Silent_p.E137E	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	137	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AACCAGAAGAGGAAATAGATG	0.343000														3			16		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23928095	23928095	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:23928095G>A	uc002nrk.4	-	3	399	c.257C>T	c.(256-258)tCa>tTa	p.S86L	ZNF681_uc002nrl.4_Missense_Mutation_p.S17L|ZNF681_uc002nrj.4_Missense_Mutation_p.S17L	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTGCTCTGGTGAAAAGTCTTG	0.313000														14			4		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95107398	95107398	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:95107398C>T	uc001kin.3	-	36	4348	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	MYOF_uc001kio.3_Missense_Mutation_p.E1396K|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1409					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACGATGTCCTCTTTCCCTGCA	0.522000														18			15		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422559	57422559	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:57422559G>A	uc001cyp.3	-	2	341	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	C8B_uc010oon.2_Missense_Mutation_p.P30S|C8B_uc010ooo.2_Missense_Mutation_p.P40S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	92	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P92S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGAGAGGGCTGGAGCAAG	0.507000														72			71		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233409160	233409160	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:233409160G>A	uc002vsx.1	+	9	1140	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	CHRNG_uc010fye.1_Silent_p.R321R	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	373					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCAGTCCCGGCTACAGAATG	0.652000														79			51		0	0	1	0	0
AX747828	0	broad.mit.edu	37	3	196159174	196159175	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:196159174_196159175CC>TT	uc003fwo.1	+	0	940_941	c.687_688CC>TT	c.(685-690)cacctt>caTTtt	p.L230F	UBXN7_uc003fwm.4_Intron|UBXN7_uc003fwn.4_Intron|UBXN7_uc010iae.3_Intron|UBXN7_uc010iaf.3_Intron					RecName: Full=Putative uncharacterized protein FLJ35645;																		CCACTCTCCACCTTCCGGTAAC	0.639000														18			10		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231534	7231534	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:7231534C>G	uc010wzk.2	+	0	398	c.398C>G	c.(397-399)cCg>cGg	p.P133R		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	133										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACAGAGGTGCCGGCCGAGCTG	0.592000														21			10		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166805	100166805	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:100166805C>T	uc001tge.2	-	7	1440	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.K307K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	341						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACGAATAATCCTTTTCTTGAC	0.353000														34			19		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17395735	17395735	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:17395735G>A	uc001baf.3	-	15	1884	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	PADI2_uc010ocm.2_Missense_Mutation_p.P485L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	601					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAATGGCTTGGGGATGCCCAG	0.587000														32			42		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52825840C>T	uc001saj.2	-	2	746	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000														26			10		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811694	102811694	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:102811694C>T	uc001tjp.4	-	3	709	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	164					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GCTTCTGTCCCCTCCTTCTGT	0.468000														203			98		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623370	46623370	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:46623370C>T	uc009zkj.1	-	3	860	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E59K|SLC38A1_uc010slh.2_Missense_Mutation_p.E32K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E59K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	59					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTCTTTTTTTCCAAATGGCTG	0.279000														58			22		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466079	24466079	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:24466079C>T	uc010tcw.2	-	2	371	c.351G>A	c.(349-351)gaG>gaA	p.E117E	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_3'UTR|C1QTNF9B-AS1_uc009zzx.3_3'UTR|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Silent_p.E117E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	117	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GAGGCCCAGTCTCTCCTCGGA	0.597000														51			15		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48749885	48749885	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:48749885A>G	uc003xqi.3	-	57	7703	c.7646T>C	c.(7645-7647)aTa>aCa	p.I2549T	PRKDC_uc003xqj.3_Missense_Mutation_p.I2549T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2550	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTGCACTTCTATCTTAGGAGA	0.393000								Non-homologous end-joining						22			11		0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119592994	119592994	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:119592994C>T	uc003yom.2	-	1	281	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD12_uc010mda.1_Missense_Mutation_p.G51E|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	51										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CTTGGGAGTTCCTTTCTGGTC	0.428000														40			50		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150718687	150718687	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:150718687G>A	uc003lty.3	-	4	589	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SLC36A2_uc003ltz.3_Intron|SLC36A2_uc003lua.3_Intron|SLC36A2_uc010jhv.2_Silent_p.F153F|SLC36A2_uc011dct.1_Silent_p.F153F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	153					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATAATAAGGAAGAAGCTCA	0.403000														43			31		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27157447	27157447	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27157447G>A	uc002rhu.4	+	8	949	c.791_splice	c.e8-1	p.G264_splice	DPYSL5_uc002rhv.4_Splice_Site_p.G264_splice|DPYSL5_uc021vev.1_Splice_Site_p.G264_splice	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	264					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCCAGGGAAGGTTGTGC	0.572000														69			44		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207646192	207646192	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207646192G>A	uc001hfw.3	+	9	1765	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	CR2_uc001hfv.3_Missense_Mutation_p.G549E|CR2_uc009xch.3_Missense_Mutation_p.G549E|CR2_uc009xci.1_Missense_Mutation_p.G34E	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	549	Sushi 9.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTTCCATATGGAACCACGGTC	0.473000														40			17		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7684478	7684478	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:7684478G>A	uc003gkb.4	+	9	1350	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	SORCS2_uc011bwi.2_Silent_p.G278G	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	450						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGTCAGAGGGGTGAAAGGAG	0.483000														12			7		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372117	48372118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48372117_48372118CC>TT	uc001rqu.3	-	42	3140_3141	c.2959_2960GG>AA	c.(2959-2961)ggg>AAg	p.G987K	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G918K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	987	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCACGTTGCCCAGGCAGACCG	0.634000														22			12		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375303	15375303	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15375303G>A	uc002nar.3	-	5	1346	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	BRD4_uc002nas.3_Missense_Mutation_p.P375L|BRD4_uc002nat.3_Missense_Mutation_p.P375L|BRD4_uc002nau.4_Missense_Mutation_p.P375L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	375	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTGTAGAAGGGCCAGGCGTA	0.577000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			22		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142037515	142037516	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:142037515_142037516GG>AA	uc003eus.3	-	38	4603_4604	c.4536_4537CC>TT	c.(4534-4539)ttccct>ttTTct	p.P1513S	XRN1_uc010huu.3_Missense_Mutation_p.P980S|XRN1_uc003eut.3_Missense_Mutation_p.P1513S|XRN1_uc003euu.3_Missense_Mutation_p.P1514S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1513					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAGGCAAAGGGAAATTCATGC	0.376000														27			12		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886068	57886068	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:57886068G>A	uc001nml.1	-	0	849	c.849C>T	c.(847-849)ccC>ccT	p.P283P	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I282fs*4(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GGTTCAGCATGGGGATGACCA	0.458000														55			41		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98609786	98609786	+	Silent	SNP	C	T	T	rs149548740		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98609786C>T	uc003upp.3	+	71	11597	c.11388C>T	c.(11386-11388)gcC>gcT	p.A3796A	TRRAP_uc011kis.2_Silent_p.A3767A|TRRAP_uc003upr.3_Silent_p.A3502A|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3796	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCGGCCGCCGGGCAGCCAG	0.577000														26			29		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113471845	113471845	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:113471845G>A	uc001ecx.3	-	1	918	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SLC16A1_uc001ecy.3_Missense_Mutation_p.S29F|SLC16A1_uc001ecz.3_Missense_Mutation_p.S29F	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	29					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	GAAGCCGATGGAAATGAAAGC	0.468000														8			34		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815026	106815026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:106815026G>A	uc003ymd.3	+	7	2739	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	ZFPM2_uc011lhs.2_Missense_Mutation_p.D637N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	906					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAACAGCCCTGATGTCAGCTA	0.458000														12			18		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883885	152883885	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152883885G>A	uc021ozl.1	+	0	1612	c.1612G>A	c.(1612-1614)Ggg>Agg	p.G538R	IVL_uc001fau.3_Missense_Mutation_p.G538R	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	538	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagaaggggcagctgga	0.577000														18			5		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922716	74922716	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:74922716C>T	uc002jti.3	+	8	1331	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	MGAT5B_uc002jth.3_Missense_Mutation_p.P399S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	399						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGGACGGAACCTGCGTACAA	0.617000														27			24		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305590	46305590	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46305590C>T	uc011bzc.1	-	6	990	c.578G>A	c.(577-579)aGa>aAa	p.R193K	GABRA2_uc003gxc.3_Missense_Mutation_p.R248K|GABRA2_uc010igc.2_Missense_Mutation_p.R248K|GABRA2_uc003gxe.3_Missense_Mutation_p.R248K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	248					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	p.S192*(1)		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)	CCCAATTTTTCTTTTCAGGTG	0.363000														39			17		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42567408	42567408	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:42567408G>A	uc003clf.2	+	3	446	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	VIPR1_uc021wwl.1_Missense_Mutation_p.E67K|VIPR1_uc011azn.2_Missense_Mutation_p.E81K|VIPR1_uc011azl.1_Missense_Mutation_p.E61K|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	108					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGCACCGACGAAGGCTGGAC	0.647000														14			8		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79254472	79254472	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:79254472T>C	uc002jzz.1	-	5	938	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	SLC38A10_uc002jzy.1_Missense_Mutation_p.Y106C|SLC38A10_uc002kab.3_Missense_Mutation_p.Y188C	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	188					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGCGGACGTAGCTGACCCG	0.637000														15			18		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16256936	16256936	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:16256936G>A	uc002den.4	-	23	3457	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1140	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCTGGGTTCGGAATGCCCGGA	0.587000														65			31		0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31674613	31674613	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:31674613C>T	uc011axe.2	+	14	2374	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	792					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CAACATTTTCCCAAAACAGAA	0.378000														10			6		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88474315	88474315	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:88474315C>T	uc002ssy.4	+	1	2072	c.381C>T	c.(379-381)ttC>ttT	p.F127F	THNSL2_uc002ssw.4_Silent_p.F127F|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_5'UTR|THNSL2_uc021vkq.1_Silent_p.F127F|THNSL2_uc021vkr.1_Silent_p.F127F	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	127					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGCAGTACTTCCTGGAGAAGA	0.517000														58			29		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462516	105462516	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:105462516G>A	uc001tlc.3	-	3	702	c.575C>T	c.(574-576)cCt>cTt	p.P192L	ALDH1L2_uc009zuo.3_5'Flank|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	192	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GATTCCTTCAGGAAAAAGAAA	0.353000														21			16		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15482798	15482798	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15482798C>T	uc002nav.3	-	6	1073	c.1003G>A	c.(1003-1005)Ggt>Agt	p.G335S	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.G149S	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	335					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGAAGTCACCAGCTGCGTCA	0.537000														19			13		0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96070152	96070152	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:96070152G>A	uc003yhj.3	+	8	1012	c.989G>A	c.(988-990)aGa>aAa	p.R330K	NDUFAF6_uc011lgs.2_Intron|NDUFAF6_uc003yhi.3_Missense_Mutation_p.R278K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	330					biosynthetic process	mitochondrion	transferase activity										CAGTCATGGAGAAAAACATAT	0.279000														117			93		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69012065	69012065	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:69012065C>T	uc003xxv.1	+	22	2729	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	PREX2_uc003xxu.1_Missense_Mutation_p.S901F|PREX2_uc011lez.1_Missense_Mutation_p.S836F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	901					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGAGAATATCCAGTTATAAA	0.284000														30			18		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135111499	135111499	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:135111499G>A	uc010qvc.1	-	4	930	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TUBGCP2_uc001lmg.1_Silent_p.F191F|TUBGCP2_uc010qvd.1_Silent_p.F61F|TUBGCP2_uc009ybk.1_Silent_p.F191F|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	191					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACCAATCAGGAAATCCCCGA	0.522000														33			11		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010418	24010418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:24010418C>T	uc002nrn.3	+	3	878	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	152					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AACACAGATTCTCCTCTGCGC	0.542000														34			16		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563902	58563903	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:58563902_58563903CC>TT	uc002qrc.1	+	4	757_758	c.510_511CC>TT	c.(508-513)ctcccc>ctTTcc	p.P171S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCAGCACTCCCCGAGGAAAG	0.653000														41			29		0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31754332	31754332	+	Silent	SNP	G	A	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:31754332G>A	uc010oge.2	-	4	589	c.543C>T	c.(541-543)atC>atT	p.I181I	SNRNP40_uc001bso.3_Silent_p.I181I	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	181						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CTTTCTTCCGGATGTCCCAAA	0.423000														20			6		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124066713	124066713	+	Silent	SNP	C	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:124066713C>T	uc001lgc.1	+	9	1052	c.801C>T	c.(799-801)acC>acT	p.T267T	BTBD16_uc001lgd.1_Silent_p.T266T	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	267										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGTTATTTACCTTTAGTGAAT	0.368000														57			14		0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45048959	45048959	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:45048959delC	uc003coi.2	+	6	692	c.663delC	c.(661-663)tgcfs	p.C221fs	EXOSC7_uc003coh.1_Frame_Shift_Del_p.C156fs|EXOSC7_uc010his.1_Frame_Shift_Del_p.C140fs	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	221					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AGGAGGCCTGCTCGCTGGCCA	0.617													---	48	---	---	20	---					
ARC	23237	broad.mit.edu	37	8	143695114	143695114	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143695114delG	uc022bca.1	-	0	519	c.519delC	c.(517-519)gccfs	p.A173fs	ARC_uc003ywn.1_Frame_Shift_Del_p.A173fs	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	173					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GCGGGGTGATGGCGTAGGGGC	0.741													---	4	---	---	2	---					
ARMC4	55130	broad.mit.edu	37	10	28151489	28151489	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:28151489delT	uc009xky.3	-	17	2771	c.2673delA	c.(2671-2673)aaafs	p.K891fs	ARMC4_uc010qds.2_Frame_Shift_Del_p.K416fs|ARMC4_uc010qdt.2_Frame_Shift_Del_p.K583fs|ARMC4_uc001itz.3_Frame_Shift_Del_p.K891fs	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	891							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTTATCTGATTTCAGTAAAT	0.353													---	27	---	---	14	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	4	---	---	2	---					
SBK1	388228	broad.mit.edu	37	16	28328743	28328743	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:28328743delC	uc002dpd.3	+	1	820	c.31delC	c.(31-33)cccfs	p.P11fs		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	11						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGAGCCGCCCCGCTCCCT	0.667											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	34	---	---	19	---					
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:135961585_135961586insT	uc004fae.2	-	1	211_212	c.1_2insA	c.(1-3)atgfs	p.M1fs	RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	1						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													---	44	---	---	7	---					
