Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NCLN	56926	broad.mit.edu	37	19	3198880	3198880	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:3198880C>T	ENST00000246117.4	+	5	1112	c.681C>T	c.(679-681)gcC>gcT	p.A227A	NCLN_ENST00000590671.1_Silent_p.A153A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	227					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTACGACGCCTTTGGAGTGG	0.647000													7	70					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790060	6790060	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790060A>G	ENST00000338569.2	-	1	226	c.129T>C	c.(127-129)ggT>ggC	p.G43G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAGCAGCAGACCATTGCTGG	0.527000													5	97					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65005520	65005520	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:65005520A>T	ENST00000394156.3	-	11	2057	c.1604T>A	c.(1603-1605)aTc>aAc	p.I535N	CDH11_ENST00000566827.1_Missense_Mutation_p.I409N|CDH11_ENST00000268603.4_Missense_Mutation_p.I535N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATTGTGAATGATTTCAGGGGG	0.428000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	43					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004842	102004842	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:102004842A>G	ENST00000372735.1	+	4	1504	c.919A>G	c.(919-921)Att>Gtt	p.I307V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I307V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I307V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	307						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTAAATGGGATTAAGCCATT	0.408000													14	27					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141532	29141532	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:29141532G>A	ENST00000377167.2	+	1	222	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGACACTGACAGGAAACC	0.423000													29	144					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152425879	152425879	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:152425879T>C	ENST00000397345.3	-	110	17640	c.17438A>G	c.(17437-17439)tAc>tGc	p.Y5813C	NEB_ENST00000409198.1_Missense_Mutation_p.Y4112C|NEB_ENST00000604864.1_Missense_Mutation_p.Y5813C|NEB_ENST00000427231.2_Missense_Mutation_p.Y5813C|NEB_ENST00000172853.10_Missense_Mutation_p.Y4112C|NEB_ENST00000603639.1_Missense_Mutation_p.Y5813C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5832					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		GTCAGCCTTGTAAACATTCTG	0.463000													10	54					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735878	55735878	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735878A>G	ENST00000312345.2	-	1	112	c.62T>C	c.(61-63)aTa>aCa	p.I21T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGTAAAAATATACTAAAAAG	0.328000													10	51					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117784600	117784600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117784600G>A	ENST00000528626.1	-	4	669	c.596C>T	c.(595-597)tCt>tTt	p.S199F	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S234F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.S234F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	229	LDL-receptor class A.|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTTAAGCAGAGACTTGTCCCA	0.537000													8	77					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43299025	43299025	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:43299025T>C	ENST00000325110.6	-	3	249	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	HMGCS1_ENST00000433297.2_Missense_Mutation_p.K15E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	15					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCCACATCTTTTGGCCAGCAA	0.378000													19	68					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82039992	82039992	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:82039992G>A	ENST00000372213.3	-	5	746	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	162					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607000													32	106					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	57					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117545	124117545	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:124117545G>A	ENST00000360013.3	+	13	2294	c.2165_splice	c.e13-1	p.D723_splice	KALRN_ENST00000460856.1_Splice_Site_p.D723_splice|KALRN_ENST00000240874.3_Splice_Site_p.D723_splice	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	723					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCCACAGGGACTCGGCTGT	0.552000													177	193					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56993064	56993064	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:56993064A>C	ENST00000179765.5	-	28	5360	c.5161T>G	c.(5161-5163)Ttc>Gtc	p.F1721V	BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1723V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.F1753V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1751V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1753					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCCTCTGAGAAGTTCAGCGAA	0.577000													7	19					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101487279	101487279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:101487279C>T	ENST00000370109.3	-	3	290	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	DPH5_ENST00000342173.7_Missense_Mutation_p.E60K|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.E60K	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	p.E60*(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TGTTCCACTTCTTCTCTATCA	0.373000													6	47					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	65					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								5	67					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026915	2026915	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2026915T>C	ENST00000262113.4	+	12	1504	c.1363T>C	c.(1363-1365)Ttc>Ctc	p.F455L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	455	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCTTACATATTCCGAGTGAG	0.522000													46	176					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544682	126544682	+	Silent	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544682T>C	ENST00000339582.2	-	4	1591	c.783A>G	c.(781-783)gaA>gaG	p.E261E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.E261E|GRM8_ENST00000405249.1_Silent_p.E261E|GRM8_ENST00000358373.3_Silent_p.E261E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	261					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)	TTTTTTCAAATTCTCCAGGTC	0.398000										HNSCC(24;0.065)			13	57					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68125191	68125191	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:68125191A>T	ENST00000294304.7	+	3	668	c.562A>T	c.(562-564)Atc>Ttc	p.I188F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	188	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACCCGGAAGATCATTGTGGA	0.597000													9	22					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54452067	54452067	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:54452067G>T	ENST00000566473.2	+	7	911	c.911G>T	c.(910-912)aGg>aTg	p.R304M	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R304M			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	304	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTAGTAACCAGGTATAAAGGT	0.433000													14	91					1.5739e-10	1.76928e-10	1	1	0
TNIP3	79931	broad.mit.edu	37	4	122063059	122063059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:122063059G>A	ENST00000454328.1	-	11	1024	c.797C>T	c.(796-798)cCa>cTa	p.P266L	TNIP3_ENST00000509841.1_Missense_Mutation_p.P343L|TNIP3_ENST00000507879.1_Missense_Mutation_p.P336L|TNIP3_ENST00000057513.3_Missense_Mutation_p.P266L|TNIP3_ENST00000511909.1_5'UTR			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	266										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTACAGGGTGGGCAATACAT	0.498000													3	35					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	64					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179298935	179298935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:179298935C>A	ENST00000429709.2	+	11	1166	c.953C>A	c.(952-954)tCa>tAa	p.S318*	ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.S276*|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.S276*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	318					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TAGGGGTTATCAGGAAACACA	0.393000													20	165					3.62473e-10	4.04679e-10	1	1	0
ADCY8	114	broad.mit.edu	37	8	131880092	131880092	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:131880092C>A	ENST00000286355.5	-	9	4302	c.2210_splice	c.e9+1	p.R737_splice	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	737					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			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)			TTACATTTACCTTGAAGAAGG	0.343000										HNSCC(32;0.087)			19	43					2.4624e-09	2.71196e-09	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101912650	101912650	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:101912650A>G	ENST00000537097.1	+	6	4622	c.3809A>G	c.(3808-3810)tAt>tGt	p.Y1270C	GPRASP1_ENST00000415986.1_Missense_Mutation_p.Y1270C|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Y1270C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Y1270C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1270	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTACTGACTATCACACACTG	0.403000													19	37					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3937152	3937152	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:3937152T>A	ENST00000324333.10	-	4	1476	c.1283A>T	c.(1282-1284)aAt>aTt	p.N428I	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.N583I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	428					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GATCTTGAGATTTTCAAGCCT	0.488000													12	164					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357812	149357812	+	Silent	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:149357812T>C	ENST00000355292.3	-	2	563	c.201A>G	c.(199-201)aaA>aaG	p.K67K	NR3C2_ENST00000358102.3_Silent_p.K67K|NR3C2_ENST00000344721.4_Silent_p.K67K|NR3C2_ENST00000342437.4_Silent_p.K67K|NR3C2_ENST00000512865.1_Silent_p.K67K|NR3C2_ENST00000511528.1_Silent_p.K67K			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	67	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GTAGTTCTTGTTTTTCTTTGC	0.418000													25	69					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60546833	60546833	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:60546833A>C	ENST00000373886.3	+	5	542	c.538A>C	c.(538-540)Agc>Cgc	p.S180R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	180	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAGAAAAAAGCAACCAGGT	0.368000													16	51					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897718	72897718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:72897718C>T	ENST00000308744.6	+	1	198	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	NPFFR2_ENST00000344413.5_Missense_Mutation_p.L34F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	34					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGCAGAGCACTCAGCGTCCA	0.667000													10	70					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52597473	52597473	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:52597473C>A	ENST00000356770.4	-	23	3818	c.3816G>T	c.(3814-3816)ttG>ttT	p.L1272F	PBRM1_ENST00000409114.3_Missense_Mutation_p.L1319F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1304F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1279F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1304F|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1304F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1319F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1279F			Q86U86	PB1_HUMAN	polybromo 1	1304	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTTTCCAGCAAAGGTGATG	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								3	51					1	1	1	1	0
TMPRSS2	7113	broad.mit.edu	37	21	42866455	42866455	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr21:42866455C>T	ENST00000398585.3	-	3	237	c.177G>A	c.(175-177)ccG>ccA	p.P59P	TMPRSS2_ENST00000458356.1_Silent_p.P22P|TMPRSS2_ENST00000332149.5_Silent_p.P22P|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	22					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGGGGTTTTCCGGTTGGTATC	0.512000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								20	71					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60967494	60967494	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:60967494A>T	ENST00000279101.5	-	8	1050	c.1042T>A	c.(1042-1044)Ttc>Atc	p.F348I		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	348					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTCCCTGAAGGTCTCGTTC	0.572000													19	152					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666035	30666035	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:30666035G>A	ENST00000542965.2	+	7	1200	c.744G>A	c.(742-744)ccG>ccA	p.P248P	PRR14_ENST00000300835.4_Silent_p.P248P			Q9BWN1	PRR14_HUMAN	proline rich 14	248	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCTTGGCCCCGCTCTTCCGTT	0.647000													15	57					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976018	2976018	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2976018G>A	ENST00000520002.1	-	43	6891	c.6336C>T	c.(6334-6336)ttC>ttT	p.F2112F	CSMD1_ENST00000400186.3_Silent_p.F2112F|CSMD1_ENST00000537824.1_Silent_p.F2111F|CSMD1_ENST00000542608.1_Silent_p.F2111F|CSMD1_ENST00000602557.1_Silent_p.F2112F|CSMD1_ENST00000602723.1_Silent_p.F2112F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2112	Sushi 12.					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)		GATAACACTCGAAAGATACTG	0.448000													11	54					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147084947	147084947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:147084947T>C	ENST00000234739.3	+	5	1059	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	107					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCGCCGACTCCTTTGATCA	0.512000			T	"""IGH@, IGL@"""	B-ALL								15	52					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132249039	132249039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:132249039G>A	ENST00000261674.4	+	12	1900	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E587K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	587					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGGCCAAAGAAAATGATCT	0.408000													4	37					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406375C>A	ENST00000314612.2	+	1	542	c.542C>A	c.(541-543)cCt>cAt	p.P181H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388000													12	14					0.0167234	0.0169311	1	1	0
DLC1	10395	broad.mit.edu	37	8	13357289	13357289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:13357289G>T	ENST00000276297.4	-	2	701	c.292C>A	c.(292-294)Ctt>Att	p.L98I	DLC1_ENST00000316609.5_Missense_Mutation_p.L98I|DLC1_ENST00000511869.1_Missense_Mutation_p.L98I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	98					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAGAGAAAGAAACTGATCT	0.423000													44	144					1.62263e-30	1.93057e-30	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735541	55735541	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735541A>G	ENST00000312345.2	-	1	449	c.399T>C	c.(397-399)atT>atC	p.I133I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTATCAGCTGAATGCAGACTT	0.443000													9	58					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539430	55539430	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:55539430C>T	ENST00000220676.1	+	4	3136	c.2988C>T	c.(2986-2988)gcC>gcT	p.A996A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	996					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)			CTTTTATTGCCAATGACACTG	0.373000													50	142					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367906	37367906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:37367906A>G	ENST00000361924.2	+	14	4903	c.4529A>G	c.(4528-4530)gAg>gGg	p.E1510G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1532G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1510	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAAGATGGAGAAAAAGGAG	0.338000													11	53					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828646	59828646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59828646G>A	ENST00000278865.3	+	2	86	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	5						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483000													17	83					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103246626	103246626	+	Missense_Mutation	SNP	C	C	G	rs62514950		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:103246626C>G	ENST00000553106.1	-	7	1281	c.809G>C	c.(808-810)aGa>aCa	p.R270T	PAH_ENST00000307000.2_Missense_Mutation_p.R265T	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	270			R -> K (in PKU).|R -> S (in PKU; haplotype 1).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGATCCATGTCTGATGTACTG	0.562000													6	102					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8526320	8526320	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:8526320G>C	ENST00000360416.3	-	2	383	c.245C>G	c.(244-246)cCt>cGt	p.P82R	MYH10_ENST00000379980.4_Missense_Mutation_p.P82R|MYH10_ENST00000396239.1_Missense_Mutation_p.P82R|MYH10_ENST00000269243.4_Missense_Mutation_p.P82R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	82	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAAAACTTAGGTGGGTTCAT	0.398000													54	132					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057098	94057098	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:94057098A>C	ENST00000297268.6	+	49	3898	c.3427A>C	c.(3427-3429)Aac>Cac	p.N1143H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1143	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGTCTCTCAACAACCAGAT	0.522000										HNSCC(75;0.22)			17	46					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64208797	64208797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:64208797G>A	ENST00000272322.4	-	3	515	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	VPS54_ENST00000409558.3_Nonsense_Mutation_p.Q109*	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	121					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTTCCTGTTGATATACTGTA	0.348000													4	98					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185191077	185191077	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:185191077G>T	ENST00000367500.4	+	15	2383	c.2218G>T	c.(2218-2220)Gtt>Ttt	p.V740F	SWT1_ENST00000367501.3_Missense_Mutation_p.V740F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	740										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAATCACTGTTTTCTCGAG	0.378000													24	140					7.41945e-09	8.06247e-09	1	1	0
OIT3	170392	broad.mit.edu	37	10	74692226	74692226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:74692226G>A	ENST00000334011.5	+	9	1800	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	528						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGACTCAGCCGGTCTACAGGG	0.637000													22	82					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89225962	89225962	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:89225962A>T	ENST00000370521.3	+	3	766	c.407A>T	c.(406-408)aAt>aTt	p.N136I	PKN2_ENST00000370513.5_Missense_Mutation_p.N136I|PKN2_ENST00000370505.3_5'UTR|PKN2_ENST00000316005.7_Missense_Mutation_p.N136I	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	136					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTAGCAACAATAGATTGAAG	0.313000													15	71					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818955	85818955	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:85818955G>A	ENST00000306384.4	+	2	194	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	37	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						TGGCCGAACTGCAGCAGCGTT	0.577000													28	151					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711289	155711289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:155711289G>T	ENST00000295101.2	+	3	1447	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	324					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGTTCTTTGGGGTCATCGTTT	0.383000													14	54					2.32078e-09	2.57339e-09	1	1	0
CPN1	1369	broad.mit.edu	37	10	101816848	101816848	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:101816848G>A	ENST00000370418.3	-	6	1184	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	311	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GAAACTTGTCGCAACTCAGTT	0.478000													8	317					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917513	43917513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:43917513C>T	ENST00000583037.1	-	5	706	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	HYI_ENST00000372434.1_Missense_Mutation_p.A196T|SZT2_ENST00000562955.1_3'UTR|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.A171T|HYI_ENST00000372425.4_Missense_Mutation_p.A171T|HYI_ENST00000372426.1_Missense_Mutation_p.A123T|HYI_ENST00000372432.1_Missense_Mutation_p.A171T	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	171							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTAAGATGGCTGCCGCTGTA	0.582000													3	38					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703423	55703423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55703423G>A	ENST00000301532.3	-	1	453	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGCCTCCAAGGTATGACAAG	0.428000													9	69					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898400	30898400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:30898400G>A	ENST00000375712.3	+	2	987	c.820G>A	c.(820-822)Gct>Act	p.A274T	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	274	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCCTTTCCGCTTTGGGTAA	0.507000													4	52					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822330	129822330	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:129822330A>G	ENST00000422113.2	-	4	1474	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	383						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCCACATCGATCTGCATGAC	0.587000													28	147					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67338385	67338385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:67338385C>T	ENST00000304372.5	-	3	445	c.390G>A	c.(388-390)tgG>tgA	p.W130*	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	130						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCATGTACGCCAGTAGTTCA	0.478000													16	88					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069412	57069412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:57069412G>A	ENST00000532437.1	-	8	5151	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1614	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGAGATGCCCGTGGCTCTGCA	0.587000													13	85					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338137	65338137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:65338137C>T	ENST00000526877.1	+	2	87	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.R28W			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	28					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCAGGCGCGACGGGAGCGGCA	0.667000													9	47					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43214804	43214804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:43214804C>T	ENST00000431281.1	+	8	954	c.485C>T	c.(484-486)cCg>cTg	p.P162L	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000592162.1_Missense_Mutation_p.P162L|ACBD4_ENST00000591859.1_Missense_Mutation_p.P162L|ACBD4_ENST00000586346.1_Missense_Mutation_p.P162L|ACBD4_ENST00000376955.4_Missense_Mutation_p.P162L|ACBD4_ENST00000321854.8_Missense_Mutation_p.P162L|ACBD4_ENST00000398322.3_Missense_Mutation_p.P162L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	162							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCAAGGAACCGGCACCCCCA	0.627000													8	68					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76372993	76372993	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:76372993A>G	ENST00000370014.3	+	9	1372	c.753A>G	c.(751-753)ttA>ttG	p.L251L	SENP6_ENST00000447266.2_Silent_p.L251L|SENP6_ENST00000327284.8_Silent_p.L244L|SENP6_ENST00000370010.2_Silent_p.L244L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	251					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CTGGACCATTATTAAGAACGT	0.358000													20	55					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683196	140683196	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140683196C>T	ENST00000239451.4	-	1	416	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	79					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGAAGAGGACCGAGTTTTCGG	0.592000													44	65					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74766971	74766971	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:74766971C>T	ENST00000356924.4	-	2	182	c.38_splice	c.e2-1	p.R13_splice	ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Splice_Site_p.R13_splice|ABCD4_ENST00000557554.1_5'UTR	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	13						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTAACCTGGGCCTGAAGAGAA	0.458000													13	65					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695767	247695767	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:247695767A>T	ENST00000366487.3	-	2	408	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGAGAAGCCCAGGAGGACAAA	0.488000													16	56					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480521	140480521	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140480521C>T	ENST00000231130.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		96	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.C96C(1)		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)			AGGAGCTATGCGGCCCCACAG	0.448000													4	200					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53620323	53620323	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:53620323C>A	ENST00000342160.3	-	31	4199		c.e31+1		HUWE1_ENST00000262854.6_Splice_Site|HUWE1_ENST00000218328.8_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAATACTCACTTTCTGAGTT	0.423000													6	19					8.12818e-05	8.60321e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9063043	9063043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:9063043C>A	ENST00000397910.4	-	3	24606	c.24403G>T	c.(24403-24405)Gcc>Tcc	p.A8135S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8137	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						ATCTCTGTGGCTAAGCTGGTC	0.527000													16	98					1.45105e-14	1.66564e-14	1	1	0
CASQ2	845	broad.mit.edu	37	1	116287494	116287494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:116287494C>T	ENST00000261448.5	-	2	513	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CASQ2_ENST00000456138.2_Missense_Mutation_p.V92M	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	92					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCACCATCACAAAGCCTATA	0.413000													3	15					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135814307	135814307	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:135814307A>G	ENST00000250617.6	-	6	1891	c.686T>C	c.(685-687)gTc>gCc	p.V229A	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V102A	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	229					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAATCCTTTGACGGCTTTTGG	0.328000													5	7					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112878079	112878079	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:112878079G>A	ENST00000161863.4	+	10	1587	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	YTHDC2_ENST00000515883.1_Silent_p.V458V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	458							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAAAGATGTGAATTGCCTTG	0.338000													39	69					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965122	88965122	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:88965122T>A	ENST00000333190.4	+	4	3435	c.2826T>A	c.(2824-2826)agT>agA	p.S942R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	942						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAATCAAGTAATGTTGAGA	0.408000										HNSCC(36;0.09)			34	109					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62455839	62455839	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:62455839G>T	ENST00000371158.2	+	28	3784		c.e28-1		INADL_ENST00000543708.1_Splice_Site|INADL_ENST00000316485.6_Splice_Site|INADL_ENST00000545929.1_Splice_Site	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						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						tcttttaatagaaaaaatCAG	0.333000													11	27					2.80697e-09	3.07072e-09	1	1	0
GRM8	2918	broad.mit.edu	37	7	126544619	126544619	+	Silent	SNP	G	G	A	rs142836470		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544619G>A	ENST00000339582.2	-	4	1654	c.846C>T	c.(844-846)gcC>gcT	p.A282A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.A282A|GRM8_ENST00000405249.1_Silent_p.A282A|GRM8_ENST00000358373.3_Silent_p.A282A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	282					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)	CATCCTCATTGGCAAACATAA	0.383000										HNSCC(24;0.065)			8	59					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169796918	169796918	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:169796918C>A	ENST00000286031.6	+	12	1764	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y	C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S355Y	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	355										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCTGCCATCTCAGCCTAAG	0.428000													74	360					1.3515e-34	1.61981e-34	1	1	0
MS4A6A	64231	broad.mit.edu	37	11	59939680	59939680	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59939680G>T	ENST00000323961.3	-	7	935	c.698C>A	c.(697-699)tCc>tAc	p.S233Y	MS4A6A_ENST00000529054.1_Missense_Mutation_p.S261Y|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S233Y|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR|MS4A6A_ENST00000420732.2_3'UTR	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	233						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTTTTGAGGACATGCCAGA	0.333000													20	70					2.41591e-17	2.85358e-17	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139222223	139222223	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:139222223T>A	ENST00000423192.1	+	20	2714	c.2553T>A	c.(2551-2553)caT>caA	p.H851Q	ECT2L_ENST00000367682.2_Missense_Mutation_p.H851Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.H705Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	851					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCCTTCATCGGTTACTCA	0.398000			"""N, Splice, Mis"""		ETP ALL								16	86					0	0	1	0	0
TOMM5	401505	broad.mit.edu	37	9	37592529	37592529	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:37592529T>A	ENST00000377773.5	-	1	65	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TOMM5_ENST00000544379.1_Start_Codon_SNP_p.M1L|RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000401811.3_Start_Codon_SNP_p.M1L|TOMM5_ENST00000321301.6_Start_Codon_SNP_p.M1L	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	1						integral to membrane|mitochondrial outer membrane translocase complex											ATCCGGAACATCGCGGCTCTG	0.627000													52	56					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389306	117389306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117389306G>A	ENST00000321322.6	-	7	1566	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S252L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	462	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGCCGTCCGACATGGTGTA	0.682000													24	74					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230946	2230946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:2230946G>A	ENST00000343516.6	-	18	2515	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	808	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGCAGCTGCGGGGTGGGCTT	0.711000													3	15					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770484	83770484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:83770484C>T	ENST00000398309.2	-	6	948	c.478G>A	c.(478-480)Gag>Aag	p.E160K	DLG2_ENST00000532653.1_Missense_Mutation_p.E160K|DLG2_ENST00000524982.1_Missense_Mutation_p.E160K|DLG2_ENST00000531015.1_Missense_Mutation_p.E127K|DLG2_ENST00000418306.2_Missense_Mutation_p.E109K|DLG2_ENST00000398301.2_Missense_Mutation_p.E199K|DLG2_ENST00000280241.8_Missense_Mutation_p.E199K|DLG2_ENST00000376104.2_Missense_Mutation_p.E265K|DLG2_ENST00000543673.1_Missense_Mutation_p.E265K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E99K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	160	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGGAAACCTCTGACACATCA	0.473000													7	47					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226822564	226822564	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:226822564G>A	ENST00000429204.1	-	8	2976	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	ITPKB_ENST00000272117.3_Silent_p.F883F	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	883							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCGTGGATGAAGAGGAGGG	0.637000													6	23					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26883512	26883512	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:26883512G>A	ENST00000374168.2	+	13	1159	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000531382.1_Silent_p.K344K|RPS6KA1_ENST00000530003.1_Silent_p.K319K|RPS6KA1_ENST00000526792.1_Silent_p.K243K|RPS6KA1_ENST00000374162.2_Silent_p.K243K|RPS6KA1_ENST00000374166.4_Silent_p.K324K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	335	AGC-kinase C-terminal.		K -> T (in dbSNP:rs2229712).		axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGAGATCAAGCCACCCTTCA	0.582000													16	71					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992981	21992981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:21992981C>T	ENST00000327430.3	-	2	1175	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	294							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)		TTTGTGGCTTCGCCCAACCCC	0.602000													8	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	52					9.57634e-11	1.08399e-10	1	1	0
PHF3	23469	broad.mit.edu	37	6	64408457	64408457	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:64408457A>T	ENST00000262043.3	+	8	3284	c.2944A>T	c.(2944-2946)Aga>Tga	p.R982*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R982*			Q92576	PHF3_HUMAN	PHD finger protein 3	982	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAACAAATATAGAAGTTTGAT	0.333000													13	50					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	58					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:5474954C>T	ENST00000341449.2	+	1	317	c.236C>T	c.(235-237)cCc>cTc	p.P79L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502000													18	84					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134014829	134014829	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:134014829C>A	ENST00000299106.4	+	5	711	c.552C>A	c.(550-552)tcC>tcA	p.S184S	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Silent_p.S133S|JAM3_ENST00000529443.2_Silent_p.S229S			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	184	Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCACGGATTCCAGAGCCAATC	0.507000													28	48					1.39806e-14	1.61619e-14	1	1	0
SLC29A3	55315	broad.mit.edu	37	10	73122322	73122322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:73122322C>T	ENST00000373189.5	+	6	1437	c.1385C>T	c.(1384-1386)aCa>aTa	p.T462I		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	462					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGGGCTTAACACTGGGCTCA	0.567000													4	60					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													4	185					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52913073	52913073	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:52913073T>A	ENST00000373980.4	+	2	878	c.461T>A	c.(460-462)cTg>cAg	p.L154Q	PRKG1_ENST00000373985.1_Missense_Mutation_p.L127Q|PRKG1_ENST00000401604.2_Missense_Mutation_p.L139Q	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	139					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGGGGTCACTGGTGTATGTC	0.448000													14	54					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79433711	79433711	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:79433711A>T	ENST00000554719.1	+	10	2310	c.1819A>T	c.(1819-1821)Atc>Ttc	p.I607F	NRXN3_ENST00000335750.5_Missense_Mutation_p.I607F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	198					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACTCAGGTTATCAATGGTGC	0.408000													6	25					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	45					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735566	55735566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735566A>G	ENST00000312345.2	-	1	424	c.374T>C	c.(373-375)cTa>cCa	p.L125P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTCATCACTAGAGGATACTG	0.443000													5	55					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060399	12060399	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:12060399C>T	ENST00000482090.1	+	3	1924	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A520A|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTTATTCTGCCAAGTCATTTC	0.378000													14	52					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542734	187542734	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:187542734G>C	ENST00000441802.2	-	10	5215	c.5006C>G	c.(5005-5007)tCa>tGa	p.S1669*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1669	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATTCTTTTGATGTAAACTT	0.398000										HNSCC(5;0.00058)			7	24					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:42538870A>C	ENST00000358097.4	-	0	449				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													4	32					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717929	73717929	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:73717929C>A	ENST00000264448.6	+	10	8951	c.8840C>A	c.(8839-8841)cCc>cAc	p.P2947H	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2905H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2947					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACCATTCTCCCCTTCCTCAA	0.438000													6	200					0.00116845	0.00122088	1	1	0
ZNF737	100129842	broad.mit.edu	37	19	20728474	20728474	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:20728474C>G	ENST00000427401.4	-	4	629	c.535G>C	c.(535-537)Ggc>Cgc	p.G179R		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	179					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGCTTTGCCACATTCTATA	0.333000													6	19					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407997	49407997	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:49407997C>T	ENST00000299191.3	+	1	264	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	49										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AACAAGCTCCCGAGGTGGGTA	0.512000													10	52					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899173	112899173	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:112899173A>G	ENST00000374530.3	+	8	1529	c.1349A>G	c.(1348-1350)gAa>gGa	p.E450G	AKAP2_ENST00000510514.5_Missense_Mutation_p.E450G|AKAP2_ENST00000434623.2_Missense_Mutation_p.E308G|AKAP2_ENST00000555236.1_Missense_Mutation_p.E450G|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E450G|AKAP2_ENST00000259318.7_Missense_Mutation_p.E219G|AKAP2_ENST00000374525.1_Missense_Mutation_p.E308G	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		219							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGGAGCTGGAAAAGGAGAGG	0.512000													20	47					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					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)		GAACTACAACGAGGCCAAATG	0.572000													4	61					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883031	145883031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:145883031C>T	ENST00000296702.5	+	17	2514	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R805C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	826	FF 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGATCCACGTTACAAAGC	0.338000													7	20					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629134	47629134	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:47629134C>T	ENST00000546455.1	+	4	1019	c.288C>T	c.(286-288)cgC>cgT	p.R96R	PCED1B_ENST00000432328.1_Silent_p.R96R					PC-esterase domain containing 1B																		TCCTCACCCGCGTGTACTCCG	0.592000													28	160					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936565	30936565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:30936565G>T	ENST00000355537.3	+	2	2243	c.2096G>T	c.(2095-2097)gGg>gTg	p.G699V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					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)					GAGGAGAGCGGGGTCGGAGGC	0.692000													6	30					0.00198382	0.00205963	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49654477	49654477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:49654477C>T	ENST00000249601.4	-	10	2350	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G526E|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G518E|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G595E|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G691E|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G576E|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G701E	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	685					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTCAAGCTTCCTAGGGTCGA	0.542000													14	87					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231802	21231802	+	Silent	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:21231802G>T	ENST00000233242.1	-	26	8065	c.7938C>A	c.(7936-7938)tcC>tcA	p.S2646S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2646					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)	ATTCTGGTGTGGAAAACCTGG	0.358000													23	157					2.65835e-16	3.11734e-16	1	1	0
OR2AG2	338755	broad.mit.edu	37	11	6790036	6790036	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790036T>C	ENST00000338569.2	-	1	250	c.153A>G	c.(151-153)atA>atG	p.I51M		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGGGCTTCTATGGTGATGG	0.532000													5	113					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143049	55143049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:55143049G>A	ENST00000396331.1	+	5	526	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LILRB1_ENST00000396315.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E57K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E57K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E57K|LILRB1_ENST00000434867.2_Missense_Mutation_p.E57K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E57K|LILRB1_ENST00000427581.2_Missense_Mutation_p.E93K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E57K|LILRB1_ENST00000324602.7_Missense_Mutation_p.E57K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	57	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAGACCCAGGAGTACCGTCT	0.582000										HNSCC(37;0.09)			6	149					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2958424	2958424	+	Missense_Mutation	SNP	C	C	T	rs149998901		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:2958424C>T	ENST00000416614.2	-	3	510	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NOP14_ENST00000314262.6_Missense_Mutation_p.D149N|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.D149N|NOP14_ENST00000398071.4_Missense_Mutation_p.D149N			P78316	NOP14_HUMAN	NOP14 nucleolar protein	149					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCTCAGCATCGCTGTCACTG	0.488000													18	85					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192996	52192996	+	Silent	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:52192996A>T	ENST00000371471.2	-	4	2732	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S	ZNF217_ENST00000302342.3_Silent_p.S769S			O75362	ZN217_HUMAN	zinc finger protein 217	769					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACAGAAACTAGAGAGGGGAG	0.562000													20	45					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780494	88780494	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:88780494T>C	ENST00000418177.2	-	2	914	c.547A>G	c.(547-549)Act>Gct	p.T183A	GRM5_ENST00000305447.4_Missense_Mutation_p.T183A|GRM5_ENST00000393297.1_Missense_Mutation_p.T183A|GRM5_ENST00000393294.3_Missense_Mutation_p.T183A|GRM5_ENST00000305432.5_Missense_Mutation_p.T183A|GRM5_ENST00000455756.2_Missense_Mutation_p.T183A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	183					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGAACAGAGTCTTGTCACTC	0.473000													8	68					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183470001	183470001	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:183470001G>A	ENST00000305135.5	+	10	1305	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	370					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCAATAAAGCAGTCACATG	0.483000													22	191					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403122	133403122	+	Silent	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:133403122A>T	ENST00000329321.3	+	2	1774	c.1305A>T	c.(1303-1305)tcA>tcT	p.S435S	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCAACTCAGGCGCGAAAC	0.522000													9	78					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603997	31603997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:31603997T>C	ENST00000376033.2	+	26	5870	c.5636T>C	c.(5635-5637)cTa>cCa	p.L1879P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L1879P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1879						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCACAGCCCCTATACCTACCC	0.517000													4	220					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735735	55735735	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735735T>G	ENST00000312345.2	-	1	255	c.205A>C	c.(205-207)Atc>Ctc	p.I69L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTCTTGGGATAATGATTGTT	0.353000													16	77					0	0	1	0	0
DCBLD1	285761	broad.mit.edu	37	6	117861858	117861858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:117861858G>A	ENST00000338728.5	+	10	1249	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D377N|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	377	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TAACTTTCGGGACCCAGTGCA	0.443000													25	110					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37387530	37387530	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:37387530T>A	ENST00000405091.2	-	6	988	c.737A>T	c.(736-738)gAt>gTt	p.D246V	TEX33_ENST00000402860.3_Missense_Mutation_p.D161V|TEX33_ENST00000381821.1_Missense_Mutation_p.D246V			O43247	EAN57_HUMAN	testis expressed 33	246																	ACCCAGATCATCCGTCTTCCT	0.547000													37	128					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214007	11214007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:11214007T>C	ENST00000533467.1	-	1	886	c.887A>G	c.(886-888)cAt>cGt	p.H296R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	296				HV -> QM (in Ref. 3).	sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTACCTCACATGCCACAAAAC	0.418000													8	198					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5923971	5923971	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:5923971C>T	ENST00000378156.4	-	29	4384	c.4119G>A	c.(4117-4119)cgG>cgA	p.R1373R	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1373					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCTGAACCGCAGCAGCT	0.622000													12	45					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750435	133750435	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:133750435C>A	ENST00000318560.5	+	7	1647	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	422	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGTCCGACGTCTGGGGTAAGG	0.527000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								9	73					0.000274275	0.000288431	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806382	6806382	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806382C>A	ENST00000307401.4	+	1	135	c.114C>A	c.(112-114)gcC>gcA	p.A38A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTGTTGGCCCTGATCAGCA	0.527000													4	96					1.76689e-08	1.90731e-08	1	1	0
WDR53	348793	broad.mit.edu	37	3	196281517	196281517	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:196281517A>G	ENST00000332629.5	-	4	1209	c.642T>C	c.(640-642)tgT>tgC	p.C214C	WDR53_ENST00000433160.1_Silent_p.C55C|WDR53_ENST00000429115.1_Silent_p.C53C	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	214										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CTTCTGCACCACAACTAAAAA	0.478000													294	284					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78184575	78184575	+	Silent	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:78184575G>T	ENST00000326317.6	-	8	1271	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	SGSH_ENST00000534910.1_Silent_p.P192P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	395					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGATGGGAAAGGGCATCTTGA	0.617000													4	162					0.014758	0.0151293	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55406374	55406374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406374C>A	ENST00000314612.2	+	1	541	c.541C>A	c.(541-543)Cct>Act	p.P181T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGATGTGTATCCTTTGCTGAA	0.383000													12	14					0.0167234	0.0169311	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806400	6806400	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806400A>G	ENST00000307401.4	+	1	153	c.132A>G	c.(130-132)ctA>ctG	p.L44L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAATGGCCTACTGCTCCTGG	0.517000													4	105					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178030700	178030700	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:178030700A>T	ENST00000316308.4	-	13	1532	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	455	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ATATTCTAACATTCTTCGAAC	0.323000													7	28					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81591754	81591754	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr15:81591754T>G	ENST00000394660.2	+	14	2447	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	IL16_ENST00000560230.1_Intron|IL16_ENST00000302987.4_Missense_Mutation_p.L696R|IL16_ENST00000394652.2_5'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	696					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACCCACTGCTTAAGAGGCAG	0.443000													4	261					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202194570	202194570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:202194570C>A	ENST00000367278.3	+	2	321	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	LGR6_ENST00000439764.2_Missense_Mutation_p.L35I|LGR6_ENST00000255432.7_Missense_Mutation_p.L26I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	78						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATGAACAACCTCACAGAGCT	0.577000													25	131					2.08457e-15	2.42703e-15	1	1	0
MGAM	8972	broad.mit.edu	37	7	141750510	141750510	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:141750510T>A	ENST00000475668.2	+	24	2705	c.2651T>A	c.(2650-2652)gTg>gAg	p.V884E	MGAM_ENST00000549489.2_Missense_Mutation_p.V884E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	884	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)	CGCTTGGAGGTGAATATTTCA	0.378000													5	20					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	419731	419731	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:419731T>A	ENST00000332826.6	-	20	1871		c.e20-2			NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9							chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCAGGTCCCTGCACCAGAGC	0.642000													13	38					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17278316	17278316	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:17278316C>T	ENST00000544301.1	+	9	1710	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	VIM_ENST00000224237.5_Silent_p.L433L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	433	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.L433M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCACTCCCTCTGGTTGATAC	0.353000													18	139					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70967548	70967548	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:70967548A>G	ENST00000276594.2	-	7	1676	c.1475T>C	c.(1474-1476)gTg>gCg	p.V492A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	492					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)			AGTACAATACACACACTGGTA	0.423000													7	44					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823781	116823781	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:116823781A>G	ENST00000265132.3	-	8	1038	c.776T>C	c.(775-777)tTc>tCc	p.F259S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	259	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGTACTGGAAAGTCTCACA	0.577000													34	75					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16957917	16957917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:16957917G>A	ENST00000379803.1	+	5	733	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	SIN3B_ENST00000596802.1_Missense_Mutation_p.R240Q|SIN3B_ENST00000248054.5_Missense_Mutation_p.R240Q	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	240					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGCCAAGCGGTCTCTGGTG	0.652000													4	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666894	179666894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:179666894G>A	ENST00000589042.1	-	3	490	c.266C>T	c.(265-267)gCg>gTg	p.A89V	TTN_ENST00000342992.6_Missense_Mutation_p.A89V|TTN_ENST00000591111.1_Missense_Mutation_p.A89V|TTN_ENST00000359218.5_Missense_Mutation_p.A89V|TTN_ENST00000342175.6_Missense_Mutation_p.A89V|TTN_ENST00000460472.2_Missense_Mutation_p.A89V|TTN_ENST00000360870.5_Missense_Mutation_p.A89V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	89	Ig-like 1.						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)			AGTACTAGTCGCTTGTCCAGA	0.547000													22	122					0	0	1	0	0
CAV1	857	broad.mit.edu	37	7	116166689	116166689	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:116166689G>A	ENST00000341049.2	+	2	419	c.141G>A	c.(139-141)aaG>aaA	p.K47K	CAV1_ENST00000393470.1_Silent_p.K36K|CAV1_ENST00000393468.1_Silent_p.K16K|CAV1_ENST00000393467.1_Silent_p.K16K|CAV1_ENST00000405348.1_Silent_p.K16K	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	47					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CGCACACCAAGGAGATCGACC	0.577000											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	72					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42590348	42590348	+	Splice_Site	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:42590348T>G	ENST00000381668.5	-	8	756		c.e8-2		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|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)	TGGGGCTCACTGTAGTTTGGA	0.358000													7	60					0	0	1	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													5	4	---	---	---	---					
PTCH2	8643	broad.mit.edu	37	1	45295175	45295184	+	Frame_Shift_Del	DEL	AAGCGTTCTC	AAGCGTTCTC	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:45295175_45295184delAAGCGTTCTC	ENST00000447098.2	-	9	1116_1125	c.1105_1114delGAGAACGCTT	c.(1105-1116)ccfs	p.ENAS369fs	PTCH2_ENST00000372192.3_Frame_Shift_Del_p.ENAS369fs	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	369					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ATCTGCTGGGAAGCGTTCTCAGGCAGGGCC	0.610									Basal Cell Nevus syndrome				28	142	---	---	---	---					
KCNK3	3777	broad.mit.edu	37	2	26950718	26950721	+	Frame_Shift_Del	DEL	TGGC	TGGC	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:26950718_26950721delTGGC	ENST00000302909.3	+	2	592_595	c.467_470delTGGC	c.(466-471)acfs	p.MA156fs		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	156					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGTGTCCATGGCCAACATGGTG	0.637													12	101	---	---	---	---					
NELFA	7469	broad.mit.edu	37	4	1985349	1985350	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:1985349_1985350insT	ENST00000382882.3	-	10	2525_2526	c.1408_1409insA	c.(1408-1410)cctfs	p.P470fs	NELFA_ENST00000542778.1_Frame_Shift_Ins_p.P324fs|NELFA_ENST00000411638.1_Frame_Shift_Ins_p.P459fs	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		GAAGCCCAGGATGAGGGCCTTC	0.668													12	99	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83847865	83847872	+	Frame_Shift_Del	DEL	TGTGCTCC	TGTGCTCC	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:83847865_83847872delTGTGCTCC	ENST00000349129.2	+	21	4364_4371	c.4104_4111delTGTGCTCC	c.(4102-4113)catgfs	p.HVLL1368fs	DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.HVLL1349fs|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.HVLL1359fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1368					protein transport			p.L1370L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCAACATGTGCTCCTGTATCTCCA	0.409													8	137	---	---	---	---					
TRIM24	8805	broad.mit.edu	37	7	138269520	138269521	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:138269520_138269521insT	ENST00000343526.4	+	19	3192_3193	c.2977_2978insT	c.(2977-2979)tgafs	p.*993fs	TRIM24_ENST00000415680.2_Frame_Shift_Ins_p.*959fs			O15164	TIF1A_HUMAN	tripartite motif containing 24	993					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGTATAAAACTTGAAAATTAT	0.297													7	41	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	3	---	---	---	---					
PAXIP1	22976	broad.mit.edu	37	7	154782740	154782740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:154782740delA	ENST00000404141.1	-	4	454	c.300delT	c.(298-300)ttfs	p.F100fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTGATTCCAAAAAAAATCT	0.333													2	4	---	---	---	---					
BMS1	9790	broad.mit.edu	37	10	43293939	43293941	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:43293939_43293941delGAT	ENST00000374518.4	+	12	2176_2178	c.2113_2115delGAT	c.(2113-2115)del	p.D707del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	707					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAGAAGAAGATGATGATACTC	0.433													14	80	---	---	---	---					
PRKD1	5587	broad.mit.edu	37	14	30194874	30194874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:30194874delC	ENST00000331968.5	-	2	500	c.271delG	c.(271-273)aafs	p.E91fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.E91fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	91					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAACCACATTCAGGGAACTGC	0.378													10	69	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													2	4	---	---	---	---