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
ABCA9	10350	broad.mit.edu	37	17	67013932	67013932	+	Splice_Site	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:67013932T>C	ENST00000340001.4	-	21	2979		c.e21-2		ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Splice_Site|ABCA9_ENST00000453985.2_Splice_Site	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9						transport	integral to membrane	ATP binding|ATPase activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGTTGACCCTACATGAAGGC	0.343000													58	308					0	0	0.003610	0	0
SS18	6760	broad.mit.edu	37	18	23612426	23612426	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:23612426T>C	ENST00000415083.2	-	10	1222	c.1167A>G	c.(1165-1167)ggA>ggG	p.G389G	SS18_ENST00000545952.1_Silent_p.G306G|SS18_ENST00000542743.1_Silent_p.G306G|SS18_ENST00000542420.2_Silent_p.G366G|SS18_ENST00000539849.1_Silent_p.G307G|SS18_ENST00000269137.7_Silent_p.G358G	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	389	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGGTCTATATCCTCCATACT	0.502000			T	"""SSX1,  SSX2"""	synovial sarcoma								22	500					0	0	0.001882	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													25	95					0	0	0.007291	0	0
CARD11	84433	broad.mit.edu	37	7	2962898	2962898	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:2962898C>G	ENST00000396946.4	-	16	2413	c.2010G>C	c.(2008-2010)acG>acC	p.T670T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	670	PDZ.		T -> M (in dbSNP:rs3735134).		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T663T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCCATTCAGCGTCGTGTGCT	0.657000			Mis		DLBCL								17	109					0	0	0.004990	0	0
SPAG4	6676	broad.mit.edu	37	20	34207127	34207127	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:34207127C>A	ENST00000374273.3	+	9	916	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	268	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.I268I(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAGCCTCCATCGACCTGCAGA	0.647000													27	118					1.13719e-10	1.61964e-10	0.008361	1	0
TTN	7273	broad.mit.edu	37	2	179606461	179606461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:179606461C>A	ENST00000589042.1	-	48	11723	c.11499G>T	c.(11497-11499)atG>atT	p.M3833I	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M3516I|TTN_ENST00000342175.6_Missense_Mutation_p.M3662I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M3470I|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.M3595I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3516							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M3595I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACATCCCCCATGCTTATAT	0.413000													12	42					1.3612e-06	1.73849e-06	0.003163	1	0
RAB40A	142684	broad.mit.edu	37	X	102755239	102755239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:102755239C>T	ENST00000372633.1	-	1	2564	c.446G>A	c.(445-447)gGt>gAt	p.G149D	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.G149D			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GAAGGTCACACCCAGGCGCTC	0.582000													5	88					0	0	0.000602	0	0
DUOX2	50506	broad.mit.edu	37	15	45394000	45394000	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:45394000C>A	ENST00000389039.6	-	21	3227	c.2842G>T	c.(2842-2844)Ggt>Tgt	p.G948C	DUOX2_ENST00000603300.1_Missense_Mutation_p.G948C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	948					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.G948C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCATTTCCACCTCCACCTCCA	0.567000													10	41					0.000978159	0.00111858	0.000978	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5303444	5303444	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:5303444C>A	ENST00000274181.7	+	19	2991	c.2853C>A	c.(2851-2853)ccC>ccA	p.P951P		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	951	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P951P(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAGCCGCCCCGTGCAGTGCA	0.682000													9	11					1.05317e-09	1.46447e-09	0.002450	1	0
C1orf51	148523	broad.mit.edu	37	1	150255696	150255696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:150255696G>T	ENST00000290363.5	+	1	468	c.19G>T	c.(19-21)Gtt>Ttt	p.V7F	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.V7F|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	7	Ser-rich.							p.V7F(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCATCTAGCGTTTCTTCCTA	0.517000													35	258					4.4194e-11	6.43071e-11	0.002836	1	0
MOK	5891	broad.mit.edu	37	14	102717219	102717219	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:102717219G>A	ENST00000361847.2	-	7	751	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.L144F|MOK_ENST00000522874.1_Missense_Mutation_p.L173F	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	174	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.L174F(1)									CCATCAGTGAGGAGACACTCC	0.592000													22	75					0	0	0.003330	0	0
STAM	8027	broad.mit.edu	37	10	17737220	17737220	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:17737220T>G	ENST00000377524.3	+	7	923	c.708T>G	c.(706-708)atT>atG	p.I236M	STAM_ENST00000540523.1_Missense_Mutation_p.I125M	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	236	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.I236M(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGGAGAAATTATTACAGTTC	0.333000													13	33					0	0	0.001855	0	0
ZNF285	26974	broad.mit.edu	37	19	44891556	44891556	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:44891556C>G	ENST00000330997.4	-	4	915	c.851G>C	c.(850-852)gGc>gCc	p.G284A	ZNF285_ENST00000591679.1_Missense_Mutation_p.G291A|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G284A	NM_152354.3	NP_689567.3			zinc finger protein 285									p.G284A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGGAGTCTTGCCAGAGTGAGT	0.433000													34	142					0	0	0.003271	0	0
GPR112	139378	broad.mit.edu	37	X	135428319	135428319	+	Silent	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:135428319A>C	ENST00000394143.1	+	6	2745	c.2454A>C	c.(2452-2454)gtA>gtC	p.V818V	GPR112_ENST00000412101.1_Silent_p.V613V|GPR112_ENST00000394141.1_Silent_p.V613V|GPR112_ENST00000370652.1_Silent_p.V818V|GPR112_ENST00000287534.4_Silent_p.V755V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	818					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V818V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGCAATTGTATTTGGAGGTA	0.373000													74	90					0	0	0.003610	0	0
POTEF	728378	broad.mit.edu	37	2	130877630	130877630	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:130877630G>T	ENST00000357462.5	-	1	552	c.459C>A	c.(457-459)ccC>ccA	p.P153P	POTEF_ENST00000409914.2_Silent_p.P153P|POTEF_ENST00000360967.5_Silent_p.P153P|POTEF_ENST00000361163.4_Silent_p.P153P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	153						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATCCTTTCTGGGGACTTTAC	0.582000													11	110					6.94344e-10	9.68373e-10	0.006122	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004904	55004904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:55004904G>T	ENST00000216420.7	+	6	934	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	268					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.E268*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TGAGCCATCGGAAGAGAACAG	0.448000													14	59					0.000566183	0.000653823	0.004990	1	0
RGL1	23179	broad.mit.edu	37	1	183775522	183775522	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:183775522A>T	ENST00000304685.3	+	3	607	c.146A>T	c.(145-147)gAc>gTc	p.D49V	RGL1_ENST00000539189.1_Missense_Mutation_p.D14V|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Missense_Mutation_p.D49V|RGL1_ENST00000360851.3_Missense_Mutation_p.D14V	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	14					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCGATTCAGGACTGGGGTGAA	0.483000													19	191					0	0	0.008871	0	0
NTRK3	4916	broad.mit.edu	37	15	88476321	88476321	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:88476321T>A	ENST00000394480.1	-	16	2132	c.1811A>T	c.(1810-1812)tAt>tTt	p.Y604F	NTRK3_ENST00000542733.2_Missense_Mutation_p.Y506F|NTRK3_ENST00000558676.1_Missense_Mutation_p.Y596F|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y596F|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y596F|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y604F|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y604F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	604	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y604F(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCACACTCCATAGAACTTGAC	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	47					0	0	0.004482	0	0
DNM3	26052	broad.mit.edu	37	1	171810840	171810840	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:171810840G>A	ENST00000358155.4	+	1	220	c.44G>A	c.(43-45)cGt>cAt	p.R15H	DNM3_ENST00000367731.1_Missense_Mutation_p.R15H|DNM3_ENST00000355305.5_Missense_Mutation_p.R15H|DNM3_ENST00000520906.1_Missense_Mutation_p.R15H|DNM3_ENST00000367733.2_Missense_Mutation_p.R15H	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	15					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTGGTGAACCGTCTGCAGGAC	0.692000													4	27					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158645963	158645963	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:158645963G>T	ENST00000368148.3	-	8	1260	c.1080C>A	c.(1078-1080)acC>acA	p.T360T	SPTA1_ENST00000368147.3_Silent_p.T360T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	360					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T360T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATATCTGCTGGTGGCCAGGG	0.488000													138	93					2.24341e-30	3.97887e-30	0.003610	1	0
DMD	1756	broad.mit.edu	37	X	32663083	32663083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:32663083C>A	ENST00000357033.4	-	10	1353	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E375*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E379*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	383					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E378*(1)|p.E383*(1)|p.E379*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGTTTACCTCATGAGTATGA	0.353000													24	55					2.21704e-12	3.29749e-12	0.002780	1	0
CA3	761	broad.mit.edu	37	8	86352059	86352059	+	Silent	SNP	T	T	C	rs141354884		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:86352059T>C	ENST00000285381.2	+	2	236	c.153T>C	c.(151-153)taT>taC	p.Y51Y		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	51					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.Y51Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGTGTCTTATGATGGTGGCT	0.463000													15	71					0	0	0.002450	0	0
ENPP1	5167	broad.mit.edu	37	6	132211484	132211484	+	Missense_Mutation	SNP	G	G	T	rs146868608		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:132211484G>T	ENST00000360971.2	+	25	2631	c.2611G>T	c.(2611-2613)Ggg>Tgg	p.G871W		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTCCTAGCATGGGAAGCATGA	0.398000													17	52					5.3912e-06	6.70335e-06	0.006122	1	0
GPR85	54329	broad.mit.edu	37	7	112723734	112723734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:112723734C>A	ENST00000501255.2	-	3	1666	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	GPR85_ENST00000297146.2_Missense_Mutation_p.R348L|GPR85_ENST00000424100.1_Missense_Mutation_p.R348L|GPR85_ENST00000449591.1_Missense_Mutation_p.R348L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	348						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R348L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTGAAACAGCGCCTCAGCTC	0.453000													30	62					3.65163e-15	5.683e-15	0.006320	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	9					4.93089e-13	7.45183e-13	0.002450	1	0
LILRA6	79168	broad.mit.edu	37	19	54745979	54745979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:54745979G>T	ENST00000440558.2	-	3	326	c.278C>A	c.(277-279)gCa>gAa	p.A93E	LILRA6_ENST00000270464.5_Missense_Mutation_p.A93E|LILRA6_ENST00000391735.3_Missense_Mutation_p.A93E|LILRA6_ENST00000419410.2_Missense_Mutation_p.A93E|LILRA6_ENST00000245621.5_Missense_Mutation_p.A93E|LILRA6_ENST00000396365.2_Missense_Mutation_p.A93E|LILRB3_ENST00000407860.2_Missense_Mutation_p.A93E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.A93E(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTATCTCCCTGCATGGTGCTG	0.572000													31	244					7.16026e-08	9.58781e-08	0.002445	1	0
CRISP1	167	broad.mit.edu	37	6	49808671	49808671	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:49808671A>G	ENST00000335847.4	-	6	574	c.473T>C	c.(472-474)aTt>aCt	p.I158T	CRISP1_ENST00000505118.1_Missense_Mutation_p.I158T|CRISP1_ENST00000355791.2_Missense_Mutation_p.I158T|CRISP1_ENST00000536021.1_Missense_Mutation_p.I158T|CRISP1_ENST00000329411.5_Missense_Mutation_p.I158T|CRISP1_ENST00000507853.1_Missense_Mutation_p.I158T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	158					fusion of sperm to egg plasma membrane	extracellular space		p.I158T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GCAAGATGCAATGGCACAGCC	0.338000													8	29					0	0	0.006214	0	0
ISL1	3670	broad.mit.edu	37	5	50689434	50689434	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:50689434T>C	ENST00000230658.7	+	6	1625	c.1040T>C	c.(1039-1041)aTt>aCt	p.I347T	ISL1_ENST00000511384.1_Missense_Mutation_p.I324T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	347	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCCAGTCCTATTGAGGCATGA	0.418000													8	68					0	0	0.000978	0	0
GLRA2	2742	broad.mit.edu	37	X	14748344	14748344	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:14748344C>A	ENST00000218075.4	+	9	1626	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	GLRA2_ENST00000355020.4_Missense_Mutation_p.R366S|GLRA2_ENST00000443437.2_Missense_Mutation_p.R277S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	366					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R366S(2)|p.R366C(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGACGTTACTCGTGAAAGTCG	0.443000													79	292					1.19893e-55	2.245e-55	0.003610	1	0
GRIK4	2900	broad.mit.edu	37	11	120769268	120769268	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:120769268C>A	ENST00000527524.2	+	12	1479	c.1192C>A	c.(1192-1194)Ctc>Atc	p.L398I	GRIK4_ENST00000438375.2_Missense_Mutation_p.L398I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	398					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCAGAGGGCCTCAGCATGGA	0.597000													8	32					4.68919e-08	6.29691e-08	0.008291	1	0
FAR2P1	440905	broad.mit.edu	37	2	130792788	130792788	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:130792788C>T	ENST00000325390.3	-	0	2540					NR_026758.1																						TTAAGTCTCCCACAGCCATTG	0.473000													4	24					0	0	0.000602	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817346	77817346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:77817346C>A	ENST00000334306.2	-	1	1656	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	553								p.E553*(1)									GCCTTAACCTCTGCAAGTTTT	0.607000													17	54					5.35267e-07	6.93045e-07	0.007413	1	0
MUC17	140453	broad.mit.edu	37	7	100674963	100674963	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:100674963C>A	ENST00000306151.4	+	3	330	c.266C>A	c.(265-267)cCt>cAt	p.P89H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	89	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCAACCCTGAGATGACC	0.468000													11	75					5.50884e-06	6.83154e-06	0.001368	1	0
OR4E2	26686	broad.mit.edu	37	14	22133770	22133770	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:22133770G>T	ENST00000408935.1	+	1	474	c.474G>T	c.(472-474)ggG>ggT	p.G158G		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACTCACTAGGGCAGACCTTCT	0.478000													29	137					0.000227799	0.000268335	0.008361	1	0
OR51A2	401667	broad.mit.edu	37	11	4976851	4976851	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:4976851G>C	ENST00000380371.1	-	1	92	c.93C>G	c.(91-93)atC>atG	p.I31M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I31M(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAGATGGGGATAGAGATCC	0.418000													13	43					0	0	0.003163	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011564	105011564	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:105011564C>G	ENST00000372582.1	+	11	2727	c.1971C>G	c.(1969-1971)aaC>aaG	p.N657K	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.N262K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N657K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	657					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCTTAATAACACCCTGAAAG	0.448000													7	92					0	0	0.001984	0	0
ZNF496	84838	broad.mit.edu	37	1	247471885	247471885	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:247471885G>C	ENST00000294753.4	-	8	1362	c.898C>G	c.(898-900)Cca>Gca	p.P300A	ZNF496_ENST00000366498.2_Missense_Mutation_p.P336A|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	300					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P300A(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGACTTGGAGAGTCTTTC	0.517000													47	155					0	0	0.002522	0	0
GPR139	124274	broad.mit.edu	37	16	20043689	20043689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:20043689G>T	ENST00000570682.1	-	2	730	c.430C>A	c.(430-432)Cgc>Agc	p.R144S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	144						integral to membrane|plasma membrane		p.R144S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCCGGGTGCGGGCTGGGTAT	0.507000													47	108					1.12205e-10	1.60292e-10	0.003610	1	0
CDH8	1006	broad.mit.edu	37	16	61854900	61854900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:61854900C>A	ENST00000577390.1	-	6	1907	c.953G>T	c.(952-954)gGa>gTa	p.G318V	CDH8_ENST00000584337.1_Missense_Mutation_p.G318V|CDH8_ENST00000299345.6_Missense_Mutation_p.G318V|CDH8_ENST00000577730.1_Missense_Mutation_p.G318V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	318	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G318V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTTCCATCTCCATCGATGAT	0.428000													8	52					0.000274275	0.00032067	0.004482	1	0
LYAR	55646	broad.mit.edu	37	4	4275346	4275346	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:4275346C>A	ENST00000343470.4	-	8	1123	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	LYAR_ENST00000452476.1_Missense_Mutation_p.G295C	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	295	Lys-rich.					nucleolus	metal ion binding|protein binding	p.G295C(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTCTCCGCCCTCAGGATGC	0.453000													18	106					5.03518e-11	7.28165e-11	0.007413	1	0
ADAM11	4185	broad.mit.edu	37	17	42854901	42854901	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:42854901G>T	ENST00000200557.6	+	22	2002	c.1833G>T	c.(1831-1833)cgG>cgT	p.R611R	ADAM11_ENST00000535346.1_Silent_p.R411R	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	611	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R611R(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAGCTCCTCGGCTAGGGGACC	0.582000													109	109					2.34315e-34	4.25206e-34	0.003610	1	0
FAM214A	56204	broad.mit.edu	37	15	52902417	52902417	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:52902417T>C	ENST00000261844.7	-	6	846	c.694A>G	c.(694-696)Aat>Gat	p.N232D	FAM214A_ENST00000546305.2_Missense_Mutation_p.N239D	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	232								p.N232D(1)									AGGCCAATATTAGTGTGAATA	0.378000													14	65					0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71348764	71348764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:71348764C>A	ENST00000392650.3	-	41	5606	c.5606G>T	c.(5605-5607)tGg>tTg	p.W1869L	SDK2_ENST00000388726.3_Missense_Mutation_p.W1850L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1869	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGATGTCCCATAGTCCCTC	0.602000													6	87					0.000157383	0.000186323	0.003080	1	0
DGKI	9162	broad.mit.edu	37	7	137170141	137170141	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:137170141G>C	ENST00000453654.1	-	24	2045	c.1506C>G	c.(1504-1506)ggC>ggG	p.G502G	DGKI_ENST00000446122.1_Silent_p.G784G|DGKI_ENST00000424189.2_Silent_p.G805G|DGKI_ENST00000288490.5_Silent_p.G802G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	802	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G802G(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTCTGGGAGCCAGAAGAAA	0.358000													3	13					0	0	0.000248	0	0
GALNT9	50614	broad.mit.edu	37	12	132682499	132682499	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:132682499C>A	ENST00000328957.8	-	10	1502	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	GALNT9_ENST00000541995.1_Silent_p.V135V|GALNT9_ENST00000397325.2_Silent_p.V135V|GALNT9_ENST00000535228.1_Silent_p.V252V	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	501	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V501V(1)|p.V135V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGCTGTACCGCACCAGCTGGG	0.657000													17	16					1.96292e-10	2.75395e-10	0.001523	1	0
SSTR2	6752	broad.mit.edu	37	17	71165565	71165565	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:71165565C>T	ENST00000357585.2	+	2	476	c.107C>T	c.(106-108)cCg>cTg	p.P36L	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.P36L	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	36					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGACAGAGCCGTACTATGAC	0.473000													11	121					0	0	0.000978	0	0
LTBP1	4052	broad.mit.edu	37	2	33590570	33590570	+	Splice_Site	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:33590570G>A	ENST00000404816.2	+	31	5064	c.4711_splice	c.e31+1	p.D1571_splice	LTBP1_ENST00000402934.1_Splice_Site_p.D1190_splice|LTBP1_ENST00000272273.5_Splice_Site_p.D469_splice|LTBP1_ENST00000354476.3_Splice_Site_p.D1572_splice|LTBP1_ENST00000407925.1_Splice_Site_p.D1245_splice|LTBP1_ENST00000418533.2_Splice_Site_p.D1203_splice|LTBP1_ENST00000390003.4_Splice_Site_p.D1246_splice|LTBP1_ENST00000404525.1_Splice_Site_p.D1192_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1571	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.D1572N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGGATTCAGGTGAGCCCAT	0.542000													25	98					0	0	0.003954	0	0
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:79384709G>A	ENST00000393878.1	-	4	703	c.449C>T	c.(448-450)tCg>tTg	p.S150L	REG3A_ENST00000409839.3_Missense_Mutation_p.S150L|REG3A_ENST00000305165.2_Missense_Mutation_p.S150L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S150L(2)|p.S150W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGTGCTTCTCGACAGGCTCGC	0.527000													73	62					0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408000													21	106					0	0	0.001523	0	0
SEMA4B	10509	broad.mit.edu	37	15	90770876	90770876	+	Splice_Site	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:90770876T>C	ENST00000411539.2	+	13	2034		c.e13+2		SEMA4B_ENST00000332496.6_Splice_Site|SEMA4B_ENST00000379122.3_Silent_p.G587G	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TACCAACAGGTGAGGTGCCCC	0.587000													7	26					0	0	0.001984	0	0
ZC3H18	124245	broad.mit.edu	37	16	88644074	88644074	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:88644074G>A	ENST00000301011.5	+	2	743	c.543G>A	c.(541-543)gaG>gaA	p.E181E	ZC3H18_ENST00000452588.2_Silent_p.E181E	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	181						nucleus	nucleic acid binding|zinc ion binding	p.E181E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AATCCCTGGAGGCTGCCAAGG	0.557000													8	38					0	0	0.003080	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067474	17067474	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:17067474C>T	ENST00000262096.8	+	9	1459	c.764C>T	c.(763-765)aCa>aTa	p.T255I		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	255						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CGACATGGAACAGATAAGAAT	0.353000													4	13					0	0	0.000248	0	0
KIAA1109	84162	broad.mit.edu	37	4	123179859	123179859	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:123179859C>T	ENST00000264501.4	+	42	6996	c.6623C>T	c.(6622-6624)aCa>aTa	p.T2208I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.T2208I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T2208I			Q2LD37	K1109_HUMAN	KIAA1109	2208					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.T2208I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTCAGCCACAGTCAGTGAA	0.403000													12	62					0	0	0.000978	0	0
MME	4311	broad.mit.edu	37	3	154884756	154884756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:154884756G>T	ENST00000460393.1	+	18	1846	c.1726G>T	c.(1726-1728)Ggg>Tgg	p.G576W	MME_ENST00000493237.1_Missense_Mutation_p.G576W|MME_ENST00000492661.1_Missense_Mutation_p.G576W|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G576W|MME_ENST00000462745.1_Missense_Mutation_p.G576W	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	576					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.G576W(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTGAACTATGGGGGCATCGG	0.473000													29	66					2.47511e-08	3.35245e-08	0.008361	1	0
PTK2B	2185	broad.mit.edu	37	8	27277505	27277505	+	Missense_Mutation	SNP	G	G	T	rs140538134	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:27277505G>T	ENST00000397501.1	+	8	1106	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	PTK2B_ENST00000544172.1_Missense_Mutation_p.D100Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100Y|PTK2B_ENST00000420218.2_Missense_Mutation_p.D100Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100Y|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100Y	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	100	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.D100Y(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATGAAGTCCGATGAGATCCA	0.587000													18	21					1.01871e-10	1.45974e-10	0.008871	1	0
C8B	732	broad.mit.edu	37	1	57406675	57406675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:57406675C>A	ENST00000543257.1	-	10	1655	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	C8B_ENST00000535057.1_Missense_Mutation_p.K353N|C8B_ENST00000371237.4_Missense_Mutation_p.K415N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.K415N(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGTGTCCCTCTTGTTTCTGT	0.552000													14	34					1.52009e-12	2.2753e-12	0.003163	1	0
MAOB	4129	broad.mit.edu	37	X	43652683	43652683	+	Missense_Mutation	SNP	G	G	C	rs55815323		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:43652683G>C	ENST00000378069.4	-	8	1058	c.911C>G	c.(910-912)cCt>cGt	p.P304R	MAOB_ENST00000536181.1_Missense_Mutation_p.P288R|MAOB_ENST00000538942.1_Missense_Mutation_p.P288R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	304					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.P304R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCTCCAGAAAGGCTCTTTATA	0.373000													25	41					0	0	0.003330	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891129	45891129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:45891129C>A	ENST00000007414.3	-	15	1614	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A475S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	475					lipid transport		lipid binding	p.A475S(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTCACGTCAGCCCCAGGCCCG	0.657000													25	87					4.22769e-11	6.17086e-11	0.006320	1	0
KLF3	51274	broad.mit.edu	37	4	38690565	38690565	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:38690565G>T	ENST00000261438.5	+	3	722	c.417G>T	c.(415-417)ccG>ccT	p.P139P	KLF3_ENST00000514033.1_Silent_p.P139P	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	139	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P139P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TACGGAGCCCGGGGATCCTGC	0.627000													39	58					3.21399e-22	5.41426e-22	0.004878	1	0
PI15	51050	broad.mit.edu	37	8	75756215	75756215	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:75756215G>T	ENST00000260113.2	+	3	452		c.e3-1		RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular region	peptidase inhibitor activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCCTACAGGTTTGGGATG	0.393000													56	72					6.98806e-16	1.10585e-15	0.003610	1	0
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:130877801G>A	ENST00000357462.5	-	1	381	c.288C>T	c.(286-288)aaC>aaT	p.N96N	POTEF_ENST00000409914.2_Silent_p.N96N|POTEF_ENST00000360967.5_Silent_p.N96N|POTEF_ENST00000361163.4_Silent_p.N96N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96						cell cortex	ATP binding	p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612000													51	212					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82595113	82595113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:82595113G>C	ENST00000423517.2	-	4	4328	c.3991C>G	c.(3991-3993)Cag>Gag	p.Q1331E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1331E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q1331E(2)|p.Q1270E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTCCACCTGATCAGGTTTT	0.363000													16	67					0	0	0.008871	0	0
CORO1A	11151	broad.mit.edu	37	16	30198429	30198429	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:30198429T>C	ENST00000219150.5	+	5	826	c.521T>C	c.(520-522)gTg>gCg	p.V174A	CORO1A_ENST00000565497.1_Missense_Mutation_p.V174A|CORO1A_ENST00000570045.1_Missense_Mutation_p.V174A	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	174					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	p.V174A(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGCCCAGAGGTGCACCCAGAC	0.607000													14	83					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124377722	124377722	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:124377722G>T	ENST00000368909.3	+	38	4800	c.4694G>T	c.(4693-4695)gGc>gTc	p.G1565V	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1555V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G937V|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1565V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1555V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G416V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G937V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1565	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G1565V(2)|p.G1694V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCAGTTTGGCCAGGGCTCA	0.597000													73	299					1.53134e-21	2.57046e-21	0.003610	1	0
LTBP2	4053	broad.mit.edu	37	14	74999213	74999213	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:74999213C>G	ENST00000261978.4	-	10	2289	c.1903G>C	c.(1903-1905)Gcg>Ccg	p.A635P	LTBP2_ENST00000556690.1_Missense_Mutation_p.A635P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	635	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.A635P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACACACTCCGCGTCCTTGCAC	0.627000													17	37					0	0	0.004007	0	0
CHAT	1103	broad.mit.edu	37	10	50856565	50856565	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:50856565C>A	ENST00000395562.2	+	10	1517	c.1048C>A	c.(1048-1050)Cga>Aga	p.R350R	CHAT_ENST00000337653.2_Silent_p.R432R|CHAT_ENST00000351556.3_Silent_p.R314R|CHAT_ENST00000395559.2_Silent_p.R314R|CHAT_ENST00000339797.1_Silent_p.R314R|CHAT_ENST00000455728.2_Silent_p.R314R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	432					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTGGTGGGCCGAGACGGCAC	0.602000													5	31					0.000157383	0.000186323	0.003080	1	0
ABCC6	368	broad.mit.edu	37	16	16284195	16284195	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:16284195C>A	ENST00000205557.7	-	12	1490	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	487	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R487R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGAGCCGTGCCCGTGAGTCCT	0.572000													19	100					8.34094e-07	1.0711e-06	0.008871	1	0
CNGB3	54714	broad.mit.edu	37	8	87683215	87683215	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:87683215C>A	ENST00000320005.5	-	4	497	c.450G>T	c.(448-450)ttG>ttT	p.L150F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	150					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTCCCTCTACCAACTTTTTCT	0.502000													27	298					7.92952e-12	1.1683e-11	0.003954	1	0
CXorf40B	541578	broad.mit.edu	37	X	149100952	149100952	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:149100952G>T	ENST00000370406.3	-	5	1115	c.287C>A	c.(286-288)cCc>cAc	p.P96H	CXorf40B_ENST00000462691.1_Missense_Mutation_p.P96H|CXorf40B_ENST00000370404.1_Missense_Mutation_p.P96H|CXorf40B_ENST00000355203.2_Missense_Mutation_p.P96H			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	96								p.P96H(1)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGTCTTCGGGGCATTGCAA	0.483000													35	49					1.04594e-18	1.70101e-18	0.006230	1	0
PROM2	150696	broad.mit.edu	37	2	95941982	95941982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:95941982G>T	ENST00000317620.9	+	4	638	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	PROM2_ENST00000542147.1_Missense_Mutation_p.V169L|PROM2_ENST00000317668.4_Missense_Mutation_p.V169L|PROM2_ENST00000403131.2_Missense_Mutation_p.V169L|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	169						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.V169L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAGGATTGGTGTGGTCTGTGC	0.652000													61	69					1.74971e-23	2.97958e-23	0.003610	1	0
NLRP4	147945	broad.mit.edu	37	19	56370337	56370337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:56370337G>T	ENST00000301295.6	+	3	2000	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	NLRP4_ENST00000346986.5_Missense_Mutation_p.E526D|NLRP4_ENST00000587891.1_Missense_Mutation_p.E451D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	526							ATP binding	p.E526D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCCCAAGAGATAAAGCAGC	0.428000													14	78					7.93312e-07	1.02153e-06	0.002450	1	0
ING1	3621	broad.mit.edu	37	13	111368110	111368110	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr13:111368110G>T	ENST00000375774.3	+	1	782	c.320G>T	c.(319-321)cGa>cTa	p.R107L	ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	107					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGTGCGGGGCGAGTCTCCCGC	0.706000													4	6					3.59834e-05	4.37007e-05	0.001168	1	0
TIAM1	7074	broad.mit.edu	37	21	32638890	32638890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:32638890C>A	ENST00000286827.3	-	5	870	c.399G>T	c.(397-399)agG>agT	p.R133S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R133S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	133					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R133S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCCGTAAAGCCTGCTCTCCT	0.542000													33	64					2.29764e-31	4.10605e-31	0.003755	1	0
GPR142	350383	broad.mit.edu	37	17	72368677	72368677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:72368677G>T	ENST00000335666.4	+	4	1375	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	443						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.E443*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ATCACAGCCAGAGGGCATGGC	0.622000													35	122					4.64027e-19	7.59904e-19	0.003610	1	0
OR2J2	26707	broad.mit.edu	37	6	29142163	29142163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:29142163C>A	ENST00000377167.2	+	1	853	c.751C>A	c.(751-753)Ctc>Atc	p.L251I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	251					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						GGTTGTATCTCTCTTTTTCAT	0.463000													22	115					5.26018e-13	7.92399e-13	0.001882	1	0
HK3	3101	broad.mit.edu	37	5	176308331	176308331	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:176308331C>A	ENST00000292432.5	-	18	2690	c.2599G>T	c.(2599-2601)Gat>Tat	p.D867Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	867	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.D867Y(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTTCCATCCACCCCCACA	0.687000													46	147					4.01344e-20	6.68906e-20	0.003610	1	0
MSH4	4438	broad.mit.edu	37	1	76343982	76343982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:76343982G>T	ENST00000263187.3	+	11	1623	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	507					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.E507*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AACATACACAGAGATTGTAGA	0.358000								Mismatch excision repair (MMR)					8	45					5.18039e-06	6.45831e-06	0.003080	1	0
VANGL2	57216	broad.mit.edu	37	1	160390262	160390262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:160390262C>T	ENST00000368061.2	+	5	1336	c.862C>T	c.(862-864)Cct>Tct	p.P288S	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	288					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.P288S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTACAACCCTGCCCTCCT	0.602000													19	154					0	0	0.008871	0	0
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	T	rs144464842	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:20442600G>T	ENST00000331849.4	+	10	1412	c.1265G>T	c.(1264-1266)cGt>cTt	p.R422L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502000													23	165					2.98393e-07	3.95056e-07	0.002780	1	0
SLC38A1	81539	broad.mit.edu	37	12	46591784	46591784	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:46591784G>C	ENST00000398637.5	-	15	1876	c.1182C>G	c.(1180-1182)acC>acG	p.T394T	SLC38A1_ENST00000546893.1_Silent_p.T394T|SLC38A1_ENST00000552197.1_Silent_p.T394T|SLC38A1_ENST00000549049.1_Silent_p.T394T|SLC38A1_ENST00000439706.1_Silent_p.T394T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	394					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGTAACCACGGTATGACGAC	0.378000													7	46					0	0	0.003080	0	0
CCDC158	339965	broad.mit.edu	37	4	77234393	77234393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:77234393G>T	ENST00000388914.3	-	24	3424	c.3272C>A	c.(3271-3273)tCt>tAt	p.S1091Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1091								p.S1091Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATCATTGAAGACATTGCTGA	0.308000													5	13					0.000602214	0.000692031	0.000602	1	0
TRAJ10	28745	broad.mit.edu	37	14	23002508	23002508	+	RNA	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:23002508A>T	ENST00000390527.1	+	0	64																											AGTGGAACTCAGTAAGTATGA	0.363000													17	90					0	0	0.004990	0	0
MKRN3	7681	broad.mit.edu	37	15	23811332	23811332	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:23811332C>A	ENST00000314520.3	+	1	879	c.403C>A	c.(403-405)Cct>Act	p.P135T	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	135						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P135T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGTTTCGCCGCCTGGGGCCTC	0.627000													27	61					2.4375e-19	4.01973e-19	0.007291	1	0
CYLC2	1539	broad.mit.edu	37	9	105767937	105767937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:105767937G>C	ENST00000374798.3	+	5	1094	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D342H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	342	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D342H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				tgaaaagaaggatgcaaagaa	0.368000													7	30					0	0	0.001984	0	0
ATM	472	broad.mit.edu	37	11	108186770	108186770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:108186770G>T	ENST00000278616.4	+	42	6513	c.6128G>T	c.(6127-6129)gGc>gTc	p.G2043V	ATM_ENST00000452508.2_Missense_Mutation_p.G2043V|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2043	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2043V(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCAATGTGGGGCAAAGCCCTA	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	29					1.96292e-10	2.75395e-10	0.001523	1	0
ADCY8	114	broad.mit.edu	37	8	131848567	131848567	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:131848567G>A	ENST00000286355.5	-	12	4723	c.2631C>T	c.(2629-2631)taC>taT	p.Y877Y	ADCY8_ENST00000377928.3_Silent_p.Y746Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	877					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)			AGAGGCCTGCGTAGACGGTCT	0.542000										HNSCC(32;0.087)			9	96					0	0	0.004482	0	0
DCD	117159	broad.mit.edu	37	12	55039440	55039440	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:55039440C>T	ENST00000456047.2	-	3	338	c.149G>A	c.(148-150)gGg>gAg	p.G50E	DCD_ENST00000293371.6_Missense_Mutation_p.G50E			P81605	DCD_HUMAN	dermcidin	50					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.G50E(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCTGGCTAACCCTGGGTCTTC	0.483000													41	27					0	0	0.002852	0	0
CCDC87	55231	broad.mit.edu	37	11	66358704	66358704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:66358704C>A	ENST00000333861.3	-	1	1850	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	595								p.D595Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTAGTCATCCACAGACAAG	0.478000													195	44					3.91831e-126	7.48621e-126	0.003610	1	0
GRIP2	80852	broad.mit.edu	37	3	14538040	14538040	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:14538040C>T	ENST00000273083.3	-	0	2772							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding	p.R904K(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGGGCCACCCTCTGCACGGT	0.622000													12	31					0	0	0.001855	0	0
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:44932748G>A	ENST00000291187.4	-	6	2512	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G736G|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G736G(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488000													13	23					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216420340	216420340	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:216420340G>C	ENST00000366943.2	-	13	2782	c.2396C>G	c.(2395-2397)aCa>aGa	p.T799R	USH2A_ENST00000366942.3_Missense_Mutation_p.T799R|USH2A_ENST00000307340.3_Missense_Mutation_p.T799R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	799	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T799R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATCCAGCTGTGTCACAGTC	0.473000										HNSCC(13;0.011)			15	128					0	0	0.002450	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	RNA	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:16956761C>G	ENST00000412962.1	-	0	294																											CCTGGACCTGCCCTGGGGCAG	0.647000													3	22					0	0	0.004672	0	0
HCN1	348980	broad.mit.edu	37	5	45262863	45262863	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:45262863A>G	ENST00000303230.4	-	8	1890	c.1833T>C	c.(1831-1833)acT>acC	p.T611T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	611						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.T611T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAAACACCAGTGTTCAGAT	0.408000													37	68					0	0	0.004289	0	0
OR2L13	284521	broad.mit.edu	37	1	248262794	248262794	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:248262794G>C	ENST00000366478.2	+	3	454	c.117G>C	c.(115-117)gtG>gtC	p.V39V	OR2L13_ENST00000358120.2_Silent_p.V39V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.V39V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCCTCGGTGGGTAACTCGG	0.463000													31	204					0	0	0.007291	0	0
FAT2	2196	broad.mit.edu	37	5	150897191	150897191	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:150897191A>T	ENST00000261800.5	-	19	11465	c.11453T>A	c.(11452-11454)gTc>gAc	p.V3818D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3818	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V3818D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGGGAGACGGACGCTGT	0.557000													23	55					0	0	0.003330	0	0
OR14C36	127066	broad.mit.edu	37	1	248512769	248512769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:248512769C>A	ENST00000317861.1	+	1	693	c.693C>A	c.(691-693)gaC>gaA	p.D231E		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	231			D -> Y (in dbSNP:rs28545014).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GAGGAGCAGACAGAACAAAGG	0.517000													12	132					2.80697e-09	3.86885e-09	0.000978	1	0
STAT5B	6777	broad.mit.edu	37	17	40371852	40371852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:40371852C>A	ENST00000293328.3	-	6	727	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	187					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCAGCGGGCCAAACTGAGCT	0.647000													10	84					0.000673444	0.000771997	0.008291	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76482785	76482785	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:76482785G>A	ENST00000307431.8	+	7	1246	c.861G>A	c.(859-861)gtG>gtA	p.V287V	CNTNAP4_ENST00000476707.1_Silent_p.V291V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.V263V|CNTNAP4_ENST00000377504.4_Silent_p.V287V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	288	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTTCACAGTGGACGAACACA	0.448000													4	12					0	0	0.000248	0	0
COL22A1	169044	broad.mit.edu	37	8	139833476	139833476	+	Missense_Mutation	SNP	G	G	T	rs141992049	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:139833476G>T	ENST00000303045.6	-	7	1594	c.1148C>A	c.(1147-1149)gCg>gAg	p.A383E	COL22A1_ENST00000435777.1_Missense_Mutation_p.A383E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A383E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGCACCAGCGCACAGTCAAT	0.572000										HNSCC(7;0.00092)			19	132					5.35267e-07	6.93045e-07	0.007413	1	0
CSMD3	114788	broad.mit.edu	37	8	113246620	113246620	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:113246620C>A	ENST00000297405.5	-	68	10958	c.10714G>T	c.(10714-10716)Gaa>Taa	p.E3572*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E3403*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E3502*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E3532*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3572						integral to membrane|plasma membrane		p.E3532*(1)|p.E3572*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTTTCTTCCTTCATTTTC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	60					1.65492e-34	3.01477e-34	0.003610	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066212	40066212	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:40066212G>C	ENST00000336649.4	+	28	4382	c.4382G>C	c.(4381-4383)cGg>cCg	p.R1461P	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1455P|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1420P|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1420P|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1455P|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1420P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1455					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCGGCTGCGGCGCCTGGAG	0.657000													15	46					0	0	0.001882	0	0
MYCT1	80177	broad.mit.edu	37	6	153043128	153043128	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:153043128C>T	ENST00000367245.5	+	2	456	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	150						nucleus		p.L150L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACAAGCTTCCCTGGAACAAGC	0.502000													24	69					0	0	0.005443	0	0
PARD3	56288	broad.mit.edu	37	10	34400356	34400356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:34400356C>A	ENST00000374789.3	-	25	4137	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	PARD3_ENST00000545260.1_Missense_Mutation_p.G1181V|PARD3_ENST00000374788.3_Missense_Mutation_p.G1268V|PARD3_ENST00000374790.3_Missense_Mutation_p.G1211V|PARD3_ENST00000374794.3_Missense_Mutation_p.G1159V|PARD3_ENST00000346874.4_Missense_Mutation_p.G1234V|PARD3_ENST00000545693.1_Missense_Mutation_p.G1255V|PARD3_ENST00000350537.4_Missense_Mutation_p.G1225V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G1271V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCATGTCCTCCCAGGTAGCC	0.587000													20	67					1.64293e-13	2.50707e-13	0.003330	1	0
DNAH17	8632	broad.mit.edu	37	17	76548888	76548888	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:76548888C>A	ENST00000389840.5	-	15	2303		c.e15-1		DNAH17_ENST00000585328.1_Splice_Site					dynein, axonemal, heavy chain 17									p.?(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTCTTTATCTGAAAAACAG	0.373000													28	139					2.41591e-17	3.88862e-17	0.004656	1	0
EPHA5	2044	broad.mit.edu	37	4	66356315	66356315	+	Silent	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:66356315T>A	ENST00000273854.3	-	5	1782	c.1182A>T	c.(1180-1182)gcA>gcT	p.A394A	EPHA5_ENST00000354839.4_Silent_p.A394A|EPHA5_ENST00000511294.1_Silent_p.A394A|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	394	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A394A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTTCTTGCATGCAATATAAT	0.488000										TSP Lung(17;0.13)			15	59					0	0	0.003163	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:47846657G>T	ENST00000339488.4	-	3	1956	c.1923C>A	c.(1921-1923)atC>atA	p.I641I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000													52	127					1.44317e-28	2.51218e-28	0.003610	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90499889	90499889	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:90499889G>C	ENST00000325643.5	+	4	553	c.487G>C	c.(487-489)Ggg>Cgg	p.G163R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.G163R(1)									AGACCCCCTGGGGGACGTGTG	0.637000													40	37					0	0	0.007835	0	0
MYO16	23026	broad.mit.edu	37	13	109535429	109535429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr13:109535429C>A	ENST00000356711.2	+	13	1508	c.1382C>A	c.(1381-1383)tCc>tAc	p.S461Y	MYO16_ENST00000251041.5_Missense_Mutation_p.S461Y|MYO16_ENST00000357550.2_Missense_Mutation_p.S461Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	461	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S461Y(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TATTTCAGCTCCTCAGGGAAG	0.542000													94	83					2.5963e-48	4.84231e-48	0.003610	1	0
CNGA2	1260	broad.mit.edu	37	X	150912466	150912466	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:150912466C>A	ENST00000329903.4	+	6	1524	c.1491C>A	c.(1489-1491)ggC>ggA	p.G497G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	497					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGGAGGGCAAACTGGCAG	0.507000													10	143					4.84862e-15	7.52095e-15	0.000978	1	0
PCSK1N	27344	broad.mit.edu	37	X	48690714	48690714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:48690714G>A	ENST00000218230.5	-	2	252	c.152C>T	c.(151-153)gCt>gTt	p.A51V	PCSK1N_ENST00000476838.1_Intron	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	51	ProSAAS(1-180) (By similarity).				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										GCCAGTCTCAGCCAAGGGCGG	0.711000													3	3					0	0	0.000602	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907355	12907355	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:12907355C>T	ENST00000317869.6	-	2	1013	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.G263E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGGTCATCCCCCTGATCTTC	0.498000													29	108					0	0	0.008361	0	0
KLK5	25818	broad.mit.edu	37	19	51453337	51453337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:51453337G>T	ENST00000336334.3	-	3	461	c.109C>A	c.(109-111)Cac>Aac	p.H37N	KLK5_ENST00000593428.1_Missense_Mutation_p.H37N|KLK5_ENST00000391809.2_Missense_Mutation_p.H37N	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	37				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGAGGGGTGGTCACAGGAA	0.627000													6	34					0.00448238	0.00500408	0.004482	1	0
PXDNL	137902	broad.mit.edu	37	8	52284445	52284445	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:52284445C>G	ENST00000356297.4	-	19	3989	c.3889G>C	c.(3889-3891)Gac>Cac	p.D1297H	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1297H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1297					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACAGCAGTCTTGCCACACT	0.458000													7	39					0	0	0.003080	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489533	47489533	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:47489533A>T	ENST00000371901.3	+	1	294	c.44A>T	c.(43-45)tAc>tTc	p.Y15F	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	15						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.Y15F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CGGCCCTTTTACCTGGCGTTC	0.697000													16	50					0	0	0.008871	0	0
ITGAD	3681	broad.mit.edu	37	16	31427913	31427913	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:31427913G>T	ENST00000389202.2	+	20	2494	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	815					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.V815V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACGGAACCGTGGTCAGCCTCT	0.622000													48	113					4.74273e-12	7.00969e-12	0.003610	1	0
SLC4A9	83697	broad.mit.edu	37	5	139751895	139751895	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:139751895G>A	ENST00000230993.6	+	20	2846	c.2811G>A	c.(2809-2811)ctG>ctA	p.L937L	SLC4A9_ENST00000506757.2_Silent_p.L913L|SLC4A9_ENST00000506545.1_Silent_p.L850L|SLC4A9_ENST00000432095.2_Silent_p.L899L|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Silent_p.L937L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	937	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.L937L(2)|p.L911L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTGGCTGGATGAGCTGA	0.577000													16	36					0	0	0.004990	0	0
PARD3B	117583	broad.mit.edu	37	2	206037038	206037038	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:206037038C>G	ENST00000406610.2	+	12	1931	c.1724C>G	c.(1723-1725)tCc>tGc	p.S575C	PARD3B_ENST00000351153.1_Missense_Mutation_p.S575C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S575C|PARD3B_ENST00000349953.3_Missense_Mutation_p.S575C|PARD3B_ENST00000358768.2_Missense_Mutation_p.S513C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	575	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGTCAATGTCCATGGAGGGA	0.493000													8	44					0	0	0.004482	0	0
TEK	7010	broad.mit.edu	37	9	27209185	27209185	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:27209185A>G	ENST00000380036.4	+	16	3084	c.2642A>G	c.(2641-2643)cAc>cGc	p.H881R	TEK_ENST00000519097.1_Missense_Mutation_p.H733R|TEK_ENST00000406359.4_Missense_Mutation_p.H838R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	881	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AAACTTGGACACCATCCAAAC	0.403000													4	40					0	0	0.000602	0	0
PCDH12	51294	broad.mit.edu	37	5	141336580	141336580	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:141336580C>T	ENST00000231484.3	-	1	2047	c.837G>A	c.(835-837)gtG>gtA	p.V279V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	279	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding	p.V279V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAACTCCACCTCCCCAT	0.532000													47	118					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481424	140481424	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:140481424A>G	ENST00000231130.2	+	1	1191	c.1191A>G	c.(1189-1191)gtA>gtG	p.V397V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V397V(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)			AACCATCTGTAGAGAATTTTT	0.478000													26	95					0	0	0.004656	0	0
OR5A1	219982	broad.mit.edu	37	11	59211049	59211049	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:59211049C>A	ENST00000302030.2	+	1	433	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P136P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCTCTACCCCACTATCATGA	0.542000													112	148					8.38913e-67	1.58349e-66	0.003610	1	0
TMLHE	55217	broad.mit.edu	37	X	154736681	154736681	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:154736681G>T	ENST00000334398.3	-	6	1018	c.873C>A	c.(871-873)ctC>ctA	p.L291L	TMLHE_ENST00000369439.4_Silent_p.L291L|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	291					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.L291L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTTACTGAGGAGTTCAAATT	0.418000													99	153					9.86815e-39	1.81884e-38	0.003610	1	0
CLCA4	22802	broad.mit.edu	37	1	87036875	87036875	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:87036875T>A	ENST00000370563.3	+	8	1340	c.1298T>A	c.(1297-1299)gTt>gAt	p.V433D	CLCA4_ENST00000263723.5_Missense_Mutation_p.V146D|RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	433	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.V433D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGGCCATTGTTCATTTTATT	0.423000													47	84					0	0	0.003610	0	0
TRIP12	9320	broad.mit.edu	37	2	230744731	230744731	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:230744731C>G	ENST00000283943.5	-	2	243	c.65G>C	c.(64-66)gGg>gCg	p.G22A	TRIP12_ENST00000409677.1_Missense_Mutation_p.G22A|TRIP12_ENST00000389045.3_Missense_Mutation_p.G22A|TRIP12_ENST00000389044.4_Missense_Mutation_p.G22A|TRIP12_ENST00000543084.1_Missense_Mutation_p.G22A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	22					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.G22A(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGTTGGGCCCCGGCAGTGTT	0.453000													28	83					0	0	0.003271	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215482	134215482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:134215482G>T	ENST00000359579.4	+	2	474	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	52					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTATCAGAATGAACATGAAGT	0.488000													14	87					4.3838e-07	5.7233e-07	0.001855	1	0
SPTBN4	57731	broad.mit.edu	37	19	41078081	41078081	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:41078081G>A	ENST00000352632.3	+	34	7562	c.7476G>A	c.(7474-7476)aaG>aaA	p.K2492K	SPTBN4_ENST00000598249.1_Silent_p.K2492K|SPTBN4_ENST00000392025.1_Silent_p.K1235K|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2492	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.K2492K(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAAAAAGAAGCATGTCTTCA	0.617000													22	126					0	0	0.002299	0	0
FOCAD	54914	broad.mit.edu	37	9	20717802	20717802	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:20717802C>T	ENST00000380249.1	+	5	431	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	FOCAD_ENST00000338382.6_Missense_Mutation_p.H23Y	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	23						integral to membrane	binding	p.H23Y(1)									GGCTGTGGGTcatcttattgc	0.338000													15	15					0	0	0.006122	0	0
FAT4	79633	broad.mit.edu	37	4	126237791	126237791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:126237791C>A	ENST00000394329.3	+	1	238	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S75R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGCTCAGCGAAAGCCACG	0.637000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	51					4.63292e-17	7.43165e-17	0.008871	1	0
CHD8	57680	broad.mit.edu	37	14	21868347	21868347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:21868347C>A	ENST00000399982.2	-	23	4754	c.4690G>T	c.(4690-4692)Gaa>Taa	p.E1564*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1564*|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1285*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1564					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.E1564*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTATAACTTTCATCTTGGAAC	0.383000													16	89					1.5739e-10	2.22811e-10	0.004007	1	0
SLC10A3	8273	broad.mit.edu	37	X	153716544	153716544	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:153716544T>A	ENST00000263512.4	-	2	1234	c.736A>T	c.(736-738)Aag>Tag	p.K246*	SLC10A3_ENST00000393587.4_Nonsense_Mutation_p.K246*|SLC10A3_ENST00000369649.4_Nonsense_Mutation_p.K217*|SLC10A3_ENST00000393586.1_Nonsense_Mutation_p.K301*	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	246					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.K246*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGAAGACCTTGGCCATGAGG	0.632000													94	172					0	0	0.003610	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997210	19997210	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:19997210G>T	ENST00000391403.2	-	1	668	c.565C>A	c.(565-567)Cag>Aag	p.Q189K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	189						integral to membrane		p.Q189K(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGCTTTCCTGAAGTTCAGAA	0.368000													259	64					2.55429e-89	4.86039e-89	0.003610	1	0
MTM1	4534	broad.mit.edu	37	X	149832038	149832038	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:149832038T>C	ENST00000370396.2	+	14	1654	c.1600T>C	c.(1600-1602)Tgg>Cgg	p.W534R	MTM1_ENST00000413012.2_Missense_Mutation_p.W497R|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.W419R|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	534	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.W534R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGAACTCTGGGTGAATTA	0.358000													60	56					0	0	0.003610	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112025334	112025334	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:112025334T>C	ENST00000374566.3	-	6	1144	c.627A>G	c.(625-627)ctA>ctG	p.L209L	EPB41L4B_ENST00000374557.4_Silent_p.L209L	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	209	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.L209L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTACCTTGTAGACAGAGAG	0.323000													9	12					0	0	0.004482	0	0
SEPT6	23157	broad.mit.edu	37	X	118771036	118771036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:118771036C>A	ENST00000394610.1	-	7	1174	c.910G>T	c.(910-912)Gag>Tag	p.E304*	SEPT6_ENST00000360156.7_Nonsense_Mutation_p.E304*|SEPT6_ENST00000343984.5_Nonsense_Mutation_p.E304*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.E304*|SEPT6_ENST00000394616.4_Nonsense_Mutation_p.E246*|SEPT6_ENST00000354416.3_Nonsense_Mutation_p.E304*|SEPT6_ENST00000394617.2_Nonsense_Mutation_p.E334*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.E304*	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	304					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCCATCTCCTCCAGCTTACAG	0.612000			T	MLL	AML								9	73					5.4927e-09	7.54845e-09	0.004482	1	0
BCL9	607	broad.mit.edu	37	1	147091685	147091685	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:147091685G>T	ENST00000234739.3	+	8	2464	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557000			T	"""IGH@, IGL@"""	B-ALL								134	93					5.75948e-69	1.09152e-68	0.003610	1	0
DCLK2	166614	broad.mit.edu	37	4	151023955	151023955	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:151023955T>C	ENST00000296550.7	+	2	1501	c.747T>C	c.(745-747)gaT>gaC	p.D249D	DCLK2_ENST00000302176.8_Silent_p.D249D|DCLK2_ENST00000506325.1_Silent_p.D249D	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	249	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCACCCTGGATGGAAAGCAGG	0.433000													6	21					0	0	0.003080	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18826354	18826354	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:18826354G>C	ENST00000380548.4	+	22	4346	c.4007G>C	c.(4006-4008)gGc>gCc	p.G1336A	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G37A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G1336A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCACGAAGGCTCCTTGCTG	0.522000													9	36					0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	216420069	216420069	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:216420069C>T	ENST00000366943.2	-	13	3053	c.2667G>A	c.(2665-2667)ttG>ttA	p.L889L	USH2A_ENST00000366942.3_Silent_p.L889L|USH2A_ENST00000307340.3_Silent_p.L889L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	889	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L889F(1)|p.L889L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCAATGGTCAAATTGTACC	0.468000										HNSCC(13;0.011)			39	167					0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	71007748	71007748	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:71007748T>C	ENST00000393567.2	-	34	5363	c.5213A>G	c.(5212-5214)cAa>cGa	p.Q1738R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1738										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACAGGCTTTTGGCTCTGGAC	0.478000													4	43					0	0	0.001984	0	0
MARCH11	441061	broad.mit.edu	37	5	16177941	16177941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:16177941T>A	ENST00000332432.8	-	2	786	c.587A>T	c.(586-588)cAt>cTt	p.H196L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	196						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.H196L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GCACAGCTGATGTGTATACCG	0.418000													25	44					0	0	0.008361	0	0
USH2A	7399	broad.mit.edu	37	1	215940026	215940026	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:215940026C>T	ENST00000366943.2	-	56	11430	c.11044G>A	c.(11044-11046)Gaa>Aaa	p.E3682K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3682K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3682	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3682K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCATTACCTTCAGGAGCTGCC	0.438000										HNSCC(13;0.011)			18	97					0	0	0.007413	0	0
COL5A3	50509	broad.mit.edu	37	19	10116471	10116471	+	Splice_Site	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:10116471C>T	ENST00000264828.3	-	3	523		c.e3+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCATGCTCACCTGCCATCTG	0.697000													5	27					0	0	0.001168	0	0
NCAM2	4685	broad.mit.edu	37	21	22804584	22804584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:22804584G>T	ENST00000400546.1	+	12	1886	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	NCAM2_ENST00000284894.7_Missense_Mutation_p.R404L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	546	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R546L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAATTGTACGCTCCCATGGA	0.413000													16	32					2.23348e-06	2.82188e-06	0.004007	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260867	1260867	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:1260867G>T	ENST00000348261.5	+	21	4367	c.4119G>T	c.(4117-4119)ctG>ctT	p.L1373L	CACNA1H_ENST00000565831.1_Silent_p.L1373L|CACNA1H_ENST00000358590.4_Silent_p.L1373L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1373					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.L1373L(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGTGCTGGTGTCCCTGG	0.687000													12	78					7.07596e-05	8.48393e-05	0.006122	1	0
MORC1	27136	broad.mit.edu	37	3	108780903	108780903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:108780903C>A	ENST00000232603.5	-	11	980	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.E300*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	300					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E300*(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATATGGATTCAGCTGGAAGT	0.343000													33	51					1.99505e-19	3.30167e-19	0.002445	1	0
DIO3	1735	broad.mit.edu	37	14	102027869	102027869	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:102027869A>G	ENST00000510508.4	+	1	182	c.36A>G	c.(34-36)ggA>ggG	p.G12G	DIO3_ENST00000359323.3_5'UTR			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	p.G12G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TGGTGGTCGGAGAGGGCGAGG	0.662000													7	27					0	0	0.003080	0	0
SPATA9	83890	broad.mit.edu	37	5	95011279	95011279	+	Missense_Mutation	SNP	C	C	A	rs142489768		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:95011279C>A	ENST00000274432.8	-	3	356	c.215G>T	c.(214-216)cGa>cTa	p.R72L	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.R72L|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	72					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R72L(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TAATGTTGCTCGATTAATCTT	0.398000													26	80					1.2476e-16	1.98098e-16	0.006320	1	0
SNAPC4	6621	broad.mit.edu	37	9	139276314	139276314	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:139276314G>A	ENST00000298532.2	-	17	2647	c.2279C>T	c.(2278-2280)aCa>aTa	p.T760I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	760					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.T760I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAAGCCTGTGTGCAGGGCAC	0.657000													29	30					0	0	0.004289	0	0
ADCY6	112	broad.mit.edu	37	12	49171215	49171215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:49171215G>A	ENST00000307885.4	-	4	1920	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	ADCY6_ENST00000550422.1_Missense_Mutation_p.A409V|ADCY6_ENST00000357869.3_Missense_Mutation_p.A409V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	409					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	ATP binding|metal ion binding	p.A409F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTCAAACCGGGCAAAGAGCTC	0.592000													66	49					0	0	0.003610	0	0
CEP41	95681	broad.mit.edu	37	7	130044546	130044546	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:130044546T>G	ENST00000223208.4	-	6	551	c.281A>C	c.(280-282)aAt>aCt	p.N94T	CEP41_ENST00000343969.5_Missense_Mutation_p.N94T|CEP41_ENST00000541543.1_Missense_Mutation_p.N78T	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	94					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.N94T(1)									TGCAGAATCATTGTCTAATAT	0.393000													25	31					0	0	0.004656	0	0
RASAL2	9462	broad.mit.edu	37	1	178389684	178389684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:178389684G>T	ENST00000448150.3	+	5	1367	c.549G>T	c.(547-549)agG>agT	p.R183S	RASAL2_ENST00000462775.1_Missense_Mutation_p.R53S|RASAL2_ENST00000367649.3_Missense_Mutation_p.R201S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	53	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R53S(1)|p.R183S(1)|p.R183R(1)|p.R201R(1)|p.R201S(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCATCAAGAGGACCAAAAGCC	0.463000													16	21					2.94398e-08	3.97607e-08	0.007413	1	0
CASZ1	54897	broad.mit.edu	37	1	10702979	10702979	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:10702979C>G	ENST00000377022.3	-	20	4416	c.4099G>C	c.(4099-4101)Gag>Cag	p.E1367Q	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.E1367Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGATGACTCAGAGGACATG	0.672000													16	27					0	0	0.003163	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251899	26251899	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:26251899C>T	ENST00000356350.2	+	1	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	7					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CAGCTAAGTCCGCTCCCGCCC	0.522000													10	98					0	0	0.006214	0	0
CCDC73	493860	broad.mit.edu	37	11	32635190	32635190	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:32635190C>A	ENST00000335185.5	-	16	2717	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	892								p.D892Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTTTTTTATCTGAAGTTGAA	0.403000													22	104					7.41877e-09	1.01361e-08	0.001882	1	0
GPR112	139378	broad.mit.edu	37	X	135426564	135426564	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:135426564T>C	ENST00000394143.1	+	6	990	c.699T>C	c.(697-699)aaT>aaC	p.N233N	GPR112_ENST00000412101.1_Silent_p.N28N|GPR112_ENST00000394141.1_Silent_p.N28N|GPR112_ENST00000370652.1_Silent_p.N233N|GPR112_ENST00000287534.4_Silent_p.N170N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	233					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N233N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGAAAATATGACAATTC	0.313000													22	26					0	0	0.001882	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38579466	38579466	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:38579466A>G	ENST00000222345.6	+	4	2149	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	547					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.Y547C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTACCAGTACAGGATCATC	0.542000													17	75					0	0	0.007413	0	0
CSMD1	64478	broad.mit.edu	37	8	3245100	3245100	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:3245100C>T	ENST00000520002.1	-	19	3256	c.2701G>A	c.(2701-2703)Gac>Aac	p.D901N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D901N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D901N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D901N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D900N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D900N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D900N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	901	Sushi 5.					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)		TACCCCGGGTCACAGCTGAAA	0.607000													6	17					0	0	0.001168	0	0
SESN3	143686	broad.mit.edu	37	11	94911953	94911953	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:94911953C>T	ENST00000536441.1	-	7	1313	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R187Q	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	326					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTCAATATATCGAGAGACATC	0.368000													4	21					0	0	0.000248	0	0
FMN2	56776	broad.mit.edu	37	1	240371461	240371461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:240371461G>T	ENST00000319653.9	+	5	3579	c.3349G>T	c.(3349-3351)Ggc>Tgc	p.G1117C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1117	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1260C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCGGAGCGGGCATACCCCC	0.716000													8	7					3.86212e-05	4.66631e-05	0.008291	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697105	17697105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:17697105C>A	ENST00000399080.2	-	1	2601	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	860								p.E860*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTATCTTTCTCTTCCTTTTCT	0.279000													6	16					0.00116845	0.00132971	0.001168	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18435041	18435041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:18435041C>A	ENST00000433979.1	+	2	142	c.26C>A	c.(25-27)cCa>cAa	p.P9Q	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P9Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P9Q|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P9Q|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	9					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.P9Q(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAACGGATCCAAATCCTAAT	0.358000													8	13					0.00448238	0.00500408	0.004482	1	0
PIK3R5	23533	broad.mit.edu	37	17	8784027	8784027	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:8784027C>T	ENST00000447110.1	-	19	2696	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A857T|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A858T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	858					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCGGCCTGGGCCGGCAGGTCA	0.637000													7	22					0	0	0.001984	0	0
OXCT1	5019	broad.mit.edu	37	5	41739504	41739504	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:41739504C>G	ENST00000196371.5	-	16	1669	c.1509G>C	c.(1507-1509)ggG>ggC	p.G503G	OXCT1_ENST00000510634.1_Silent_p.G106G|OXCT1_ENST00000509987.1_Silent_p.G317G|OXCT1_ENST00000512084.1_Silent_p.G106G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	503					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CAAAATCACACCCAGTACTCT	0.423000													15	114					0	0	0.003163	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574229	140574229	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:140574229C>A	ENST00000239446.4	+	1	2288	c.2104C>A	c.(2104-2106)Ctc>Atc	p.L702I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L702I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCTTCGCTCTTCCTCCT	0.711000													38	145					4.85424e-44	8.98226e-44	0.003610	1	0
CABS1	85438	broad.mit.edu	37	4	71200918	71200918	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:71200918T>A	ENST00000273936.4	+	1	221	c.162T>A	c.(160-162)taT>taA	p.Y54*		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	54						flagellum	calcium ion binding	p.Y54*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAAATGAATATATGCTAGAAA	0.373000													20	79					0	0	0.008871	0	0
TMC1	117531	broad.mit.edu	37	9	75450879	75450879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:75450879G>T	ENST00000297784.5	+	24	2813	c.2273G>T	c.(2272-2274)gGt>gTt	p.G758V	TMC1_ENST00000340019.3_Missense_Mutation_p.G758V|TMC1_ENST00000396237.3_Missense_Mutation_p.G758V|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	758					sensory perception of sound	integral to membrane		p.G758V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAGCTGCTGGTCGCCAGTAA	0.403000													7	34					0.00198382	0.00224133	0.001984	1	0
ITPR2	3709	broad.mit.edu	37	12	26868353	26868353	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:26868353G>A	ENST00000381340.3	-	8	1150	c.734C>T	c.(733-735)gCg>gTg	p.A245V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	245	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTCTTGTTCCGCATGAAATAA	0.413000													10	118					0	0	0.008291	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575173	161575173	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:161575173C>A	ENST00000366906.5	-	3	452	c.332G>T	c.(331-333)aGg>aTg	p.R111M	AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron			Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	173					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.?(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTCTGGTGCCTACATACAAA	0.582000													11	40					3.07112e-06	3.85943e-06	0.000978	1	0
USP51	158880	broad.mit.edu	37	X	55515250	55515250	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:55515250C>A	ENST00000500968.3	-	2	205	c.123G>T	c.(121-123)gcG>gcT	p.A41A	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	41					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.A41A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TAGCCCCCGCCGCCGCCTCCT	0.652000													9	21					0.00010058	0.000119981	0.001368	1	0
CNBD1	168975	broad.mit.edu	37	8	88249177	88249177	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:88249177T>A	ENST00000518476.1	+	6	659	c.608T>A	c.(607-609)cTg>cAg	p.L203Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	203								p.L203Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATGTAATACTGAAAGGCCTA	0.353000													18	73					0	0	0.006122	0	0
RNF144B	255488	broad.mit.edu	37	6	18399923	18399923	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:18399923G>C	ENST00000259939.3	+	2	475	c.158G>C	c.(157-159)tGc>tCc	p.C53S	RNF144B_ENST00000429054.2_Intron|RNF144B_ENST00000486622.1_3'UTR	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	53					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C53S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			TGCATCTTTTGCACAGCTGTG	0.458000													11	65					0	0	0.000978	0	0
HUS1	3364	broad.mit.edu	37	7	48007507	48007507	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:48007507T>A	ENST00000258774.5	-	7	679	c.656A>T	c.(655-657)cAt>cTt	p.H219L	HUS1_ENST00000432325.1_Missense_Mutation_p.H198L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	219					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	p.H219L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGTCCTCATGGGTGCTTTC	0.398000								Direct reversal of damage;Other conserved DNA damage response genes					32	47					0	0	0.002836	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595817	120595817	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:120595817C>A	ENST00000300648.6	-	26	2935	c.2923G>T	c.(2923-2925)Gcg>Tcg	p.A975S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	975					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.A975S(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGCTGGCGCGGACAAGGGC	0.582000													43	42					1.02687e-29	1.80759e-29	0.003214	1	0
NR2F1	7025	broad.mit.edu	37	5	92920775	92920775	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:92920775G>T	ENST00000327111.3	+	1	1733	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	16					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGACGACGTGGCCGGGGGCAA	0.786000													3	5					0.00024832	0.000291048	0.000248	1	0
MGAT5B	146664	broad.mit.edu	37	17	74936922	74936922	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:74936922A>G	ENST00000569840.2	+	15	2414	c.1840A>G	c.(1840-1842)Aga>Gga	p.R614G	MGAT5B_ENST00000428789.2_Missense_Mutation_p.R623G|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R612G	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	614						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCATTATGAGAACTCAGGT	0.542000													14	94					0	0	0.002450	0	0
MBL2	4153	broad.mit.edu	37	10	54528214	54528214	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:54528214C>T	ENST00000373968.3	-	4	494	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	144	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCATTATTTCACCATTGGTC	0.473000													20	135					0	0	0.007413	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698840	111698840	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:111698840C>A	ENST00000340433.2	+	1	1114	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	295							nucleic acid binding|zinc ion binding	p.A295D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTGCCTTGCCAAACGTTCT	0.512000													8	69					3.09899e-07	4.0799e-07	0.004482	1	0
KLHDC4	54758	broad.mit.edu	37	16	87742994	87742994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:87742994C>T	ENST00000270583.5	-	10	1382	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.G411R|KLHDC4_ENST00000353170.5_Missense_Mutation_p.G385R	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	442								p.G442R(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TAGAGCACCCCATGCTTCACA	0.672000													33	71					0	0	0.005524	0	0
ABCA13	154664	broad.mit.edu	37	7	48312352	48312352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:48312352G>C	ENST00000435803.1	+	17	3113	c.3089G>C	c.(3088-3090)tGt>tCt	p.C1030S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1030					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTATCTTACTGTCAGCAATTG	0.358000													3	13					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55996585	55996585	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:55996585A>T	ENST00000373965.2	-	9	1377	c.983T>A	c.(982-984)gTt>gAt	p.V328D	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V306D|PCDH15_ENST00000373957.3_Missense_Mutation_p.V306D|PCDH15_ENST00000395446.1_Missense_Mutation_p.V328D|PCDH15_ENST00000373955.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395432.2_Missense_Mutation_p.V291D|PCDH15_ENST00000395430.1_Missense_Mutation_p.V328D|PCDH15_ENST00000437009.1_Missense_Mutation_p.V328D|PCDH15_ENST00000320301.6_Missense_Mutation_p.V328D|PCDH15_ENST00000414778.1_Missense_Mutation_p.V333D|PCDH15_ENST00000395440.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395445.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395442.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395438.1_Missense_Mutation_p.V328D|PCDH15_ENST00000361849.3_Missense_Mutation_p.V328D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	328	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V333D(2)|p.V328D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACAAACCAACAAGGATGGA	0.363000										HNSCC(58;0.16)			27	58					0	0	0.001786	0	0
SHANK3	85358	broad.mit.edu	37	22	51117203	51117203	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:51117203C>T	ENST00000414786.2	+	5	682	c.455C>T	c.(454-456)cCc>cTc	p.P152L	SHANK3_ENST00000445220.2_Missense_Mutation_p.P152L|SHANK3_ENST00000262795.3_Missense_Mutation_p.P152L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	152								p.P152F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGAGTGCCCCCTGAGCCTC	0.632000													20	20					0	0	0.001523	0	0
COL22A1	169044	broad.mit.edu	37	8	139629164	139629164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:139629164C>A	ENST00000303045.6	-	54	4309	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCCGGGGACCGGGTGCACC	0.582000										HNSCC(7;0.00092)			10	145					1.08611e-07	1.44609e-07	0.000978	1	0
MTUS2	23281	broad.mit.edu	37	13	29598927	29598927	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr13:29598927G>C	ENST00000431530.3	+	1	180	c.122G>C	c.(121-123)aGt>aCt	p.S41T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	31						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S41T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCATCTTAAGTCTGGGAGAT	0.433000													20	26					0	0	0.007413	0	0
NLRP5	126206	broad.mit.edu	37	19	56544123	56544123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:56544123C>A	ENST00000390649.3	+	8	2423	c.2423C>A	c.(2422-2424)cCc>cAc	p.P808H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	808						mitochondrion|nucleolus	ATP binding	p.P808H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGAGGCATCCCACCTGCAAG	0.617000													29	81					2.47511e-08	3.35245e-08	0.008361	1	0
LBP	3929	broad.mit.edu	37	20	36989359	36989359	+	Splice_Site	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:36989359T>A	ENST00000217407.2	+	6	751	c.588_splice	c.e6-1	p.I197_splice		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	197					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.I197N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTTTTCAGATTTGCGAAATG	0.498000													17	106					0	0	0.008871	0	0
PTPN3	5774	broad.mit.edu	37	9	112144670	112144670	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:112144670C>G	ENST00000412145.1	-	19	4600	c.2047G>C	c.(2047-2049)Gtg>Ctg	p.V683L	PTPN3_ENST00000374541.2_Missense_Mutation_p.V814L|PTPN3_ENST00000446349.1_Missense_Mutation_p.V638L|PTPN3_ENST00000394827.3_Missense_Mutation_p.V282L|PTPN3_ENST00000262539.3_Missense_Mutation_p.V660L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	814	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.V814L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATCGGGCACACCGTGGTCA	0.567000													19	56					0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563988	176563988	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:176563988G>T	ENST00000367662.3	+	3	2412	c.1248G>T	c.(1246-1248)ggG>ggT	p.G416G	PAPPA2_ENST00000367661.3_Silent_p.G416G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	416					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G416G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGAGGATGGGCACTATTTCC	0.577000													20	188					5.03518e-11	7.28165e-11	0.007413	1	0
RASA1	5921	broad.mit.edu	37	5	86564375	86564375	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:86564375T>G	ENST00000274376.6	+	1	671	c.107T>G	c.(106-108)gTg>gGg	p.V36G		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	36					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGTGTCGGGTGAAGATACCC	0.721000													4	0					0	0	0.008291	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635568	122635568	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:122635568T>A	ENST00000249284.2	-	1	186	c.121A>T	c.(121-123)Agg>Tgg	p.R41W		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	41					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.R41W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCATCAGCCTTCTGACTTGC	0.448000													21	48					0	0	0.002299	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806174	97806174	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:97806174A>T	ENST00000358642.2	+	1	158	c.158A>T	c.(157-159)aAc>aTc	p.N53I		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N53I(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTAATTTGGAACGACCCCCAT	0.453000													156	121					0	0	0.003610	0	0
FAM208A	23272	broad.mit.edu	37	3	56675561	56675561	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:56675561T>A	ENST00000431842.2	-	8	2171	c.1247A>T	c.(1246-1248)cAt>cTt	p.H416L	FAM208A_ENST00000493960.2_Missense_Mutation_p.H812L|FAM208A_ENST00000355628.5_Missense_Mutation_p.H812L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	812								p.H416L(1)|p.H812L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTCATACTCATGTTTTTGCCT	0.428000													24	71					0	0	0.002299	0	0
EREG	2069	broad.mit.edu	37	4	75246777	75246777	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:75246777G>A	ENST00000244869.2	+	3	367	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	67	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CAATAACAAAGTGTAGCTCTG	0.388000													10	88					0	0	0.008291	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537096	65537096	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:65537096C>A	ENST00000310193.3	-	2	296	c.122_splice	c.e2-1	p.R41_splice		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	41					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.R41S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CACCGGGTCTCCTACAAGGAA	0.363000													10	60					6.40141e-05	7.69479e-05	0.000978	1	0
KLRF1	51348	broad.mit.edu	37	12	9985974	9985974	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:9985974T>C	ENST00000279544.3	+	3	324	c.260T>C	c.(259-261)cTa>cCa	p.L87P	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Missense_Mutation_p.L87P|KLRF1_ENST00000324214.4_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	87					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	p.L87P(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ACTGGAGATCTAAAAGTGAAT	0.393000													35	37					0	0	0.002836	0	0
CCDC89	220388	broad.mit.edu	37	11	85396370	85396370	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:85396370G>A	ENST00000316398.3	-	1	950	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	268						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTCTCTAGTGACGGTCTGCA	0.557000													17	68					0	0	0.004990	0	0
LRRN1	57633	broad.mit.edu	37	3	3888136	3888136	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:3888136A>G	ENST00000319331.3	+	2	2572	c.1811A>G	c.(1810-1812)cAg>cGg	p.Q604R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	604	Fibronectin type-III.					integral to membrane		p.Q604R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATTCATCAGCAGACTCAAAAG	0.478000													66	135					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66620019	66620019	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:66620019G>A	ENST00000393960.1	-	15	1997	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	PC_ENST00000393958.2_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	572	Carboxyltransferase.|Substrate binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.D572D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTGGTGGGCGTCCCTGAAGG	0.602000													28	136					0	0	0.001786	0	0
KDM3B	51780	broad.mit.edu	37	5	137735660	137735660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:137735660G>T	ENST00000314358.5	+	11	3358	c.3158G>T	c.(3157-3159)tGc>tTc	p.C1053F	KDM3B_ENST00000394866.1_Missense_Mutation_p.C709F|KDM3B_ENST00000542866.1_Missense_Mutation_p.C85F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1053					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTGGGGTCTGCCTTGACTGT	0.502000													11	89					9.31168e-06	1.14868e-05	0.001855	1	0
TEC	7006	broad.mit.edu	37	4	48147476	48147476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:48147476C>A	ENST00000381501.3	-	13	1359	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	401	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R401L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGCACCTTCCCGAATAGCTTT	0.443000													44	90					7.66079e-34	1.38483e-33	0.002522	1	0
ABCC10	89845	broad.mit.edu	37	6	43413337	43413337	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:43413337G>T	ENST00000244533.3	+	13	3306	c.2946_splice	c.e13-1	p.A983_splice	ABCC10_ENST00000372530.4_Splice_Site_p.A1011_splice	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1011	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTCTCCCAGGCACCAGTGAC	0.612000													13	123					6.72482e-11	9.66565e-11	0.003163	1	0
ZNF676	163223	broad.mit.edu	37	19	22363115	22363115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:22363115C>A	ENST00000397121.2	-	3	1721	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K468N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGAATTCTCTTGTGTTTAG	0.398000													19	111					7.21436e-19	1.17734e-18	0.008871	1	0
TACR3	6870	broad.mit.edu	37	4	104510898	104510898	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:104510898C>A	ENST00000304883.2	-	5	1479	c.1339G>T	c.(1339-1341)Gcc>Tcc	p.A447S	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	447						integral to plasma membrane	tachykinin receptor activity	p.A447S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGGCGGAGGCAGATTTGGAA	0.468000													21	102					9.95505e-16	1.57009e-15	0.002299	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862986	10862986	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:10862986C>T	ENST00000559480.1	+	0	282																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGGACACATCCATGAGCACAG	0.507000													32	399					0	0	0.002836	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685889	125685889	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:125685889T>A	ENST00000371126.1	-	1	945	c.703A>T	c.(703-705)Agc>Tgc	p.S235C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	235								p.S235C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCACCTCGCTATGCCAGGCA	0.647000													31	58					0	0	0.007291	0	0
LOC401242	401242	broad.mit.edu	37	6	28829321	28829321	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:28829321C>T	ENST00000440244.1	-	0	538					NR_033379.1																						GGCGCTGCATCGCCCCGCGCC	0.637000													4	3					0	0	0.000248	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6330	6330	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrM:6330G>A	ENST00000361624.2	+	1	427	c.427G>A	c.(427-429)Gta>Ata	p.143_143insI						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTGGAGCCTCCGTAGACCTAA	0.507000													75	134					0	0	0.003610	0	0
POTEH	23784	broad.mit.edu	37	22	16266929	16266929	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:16266929C>A	ENST00000343518.6	-	9	1571	c.1520_splice	c.e9+1	p.S507_splice		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	507										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACAGACTTACCTGTGATACTG	0.398000													8	143					4.3838e-07	5.7233e-07	0.001855	1	0
SH3TC2	79628	broad.mit.edu	37	5	148388514	148388514	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:148388514G>T	ENST00000538184.1	-	11	2907	c.2019C>A	c.(2017-2019)ctC>ctA	p.L673L	SH3TC2_ENST00000515425.1_Silent_p.L1126L|SH3TC2_ENST00000512049.1_Silent_p.L1119L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1126							binding	p.L1126L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAATCCGGAGCTCAGTTC	0.527000													35	203					3.33393e-15	5.20581e-15	0.004878	1	0
OR2L2	26246	broad.mit.edu	37	1	248201720	248201720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:248201720G>T	ENST00000366479.2	+	1	247	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D51Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCTTTTTGGACATCCATCT	0.378000													70	284					4.37588e-27	7.58916e-27	0.003610	1	0
MYH1	4619	broad.mit.edu	37	17	10415291	10415291	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:10415291C>A	ENST00000226207.5	-	14	1375	c.1281G>T	c.(1279-1281)gtG>gtT	p.V427V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	427	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.V427V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGAGCACCCACTGCATTGT	0.478000													49	198					4.21674e-32	7.56438e-32	0.003610	1	0
ASUN	55726	broad.mit.edu	37	12	27070649	27070649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:27070649C>A	ENST00000261191.7	-	9	1443	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	ASUN_ENST00000539625.1_Missense_Mutation_p.G202C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	303					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.G303C(1)									CGACTGCCGCCACCTAGATGC	0.338000													19	25					1.00905e-13	1.56004e-13	0.008871	1	0
ZNF687	57592	broad.mit.edu	37	1	151261159	151261159	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:151261159C>T	ENST00000368879.2	+	3	2369	c.2271C>T	c.(2269-2271)caC>caT	p.H757H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.H757H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGTCTGCACGTCTCTCGCC	0.562000													37	193					0	0	0.007835	0	0
OR10A7	121364	broad.mit.edu	37	12	55615680	55615680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:55615680G>T	ENST00000326258.1	+	1	872	c.872G>T	c.(871-873)gGc>gTc	p.G291V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G291V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATCATCTACGGCCTGAGGAAC	0.448000													24	91					9.04412e-07	1.15824e-06	0.004656	1	0
NSUN2	54888	broad.mit.edu	37	5	6625775	6625775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:6625775C>T	ENST00000264670.6	-	4	678	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.E88K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	123						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.E123K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GCAAGTTCTTCAGGATACCTG	0.363000													16	41					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153174228	153174228	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:153174228T>C	ENST00000285900.5	+	14	2661	c.2318T>C	c.(2317-2319)tTg>tCg	p.L773S	GRIA1_ENST00000521843.2_Missense_Mutation_p.L704S|GRIA1_ENST00000518783.1_Missense_Mutation_p.L783S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.L693S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	773					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L773S(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGGGGCTTTTGGACAAATTG	0.448000													9	49					0	0	0.004482	0	0
PCSK6	5046	broad.mit.edu	37	15	101970268	101970268	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:101970268C>A	ENST00000348070.1	-	6	654	c.654_splice	c.e6-1	p.D219_splice	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Splice_Site_p.D219_splice|PCSK6_ENST00000344273.2_Splice_Site_p.D219_splice|PCSK6_ENST00000331826.7_Splice_Site_p.D54_splice|PCSK6_ENST00000358417.3_Splice_Site_p.D219_splice	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	220	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCGTAGGAATCCTAAGAAATG	0.468000													5	18					3.59834e-05	4.37007e-05	0.001168	1	0
ZCWPW2	152098	broad.mit.edu	37	3	28454767	28454767	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:28454767A>T	ENST00000383768.2	+	3	396	c.208A>T	c.(208-210)Aac>Tac	p.N70Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.N70Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	70							zinc ion binding	p.N70Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAGATATAATAACTGCTCAAT	0.388000													34	88					0	0	0.002445	0	0
NDST4	64579	broad.mit.edu	37	4	115998013	115998013	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:115998013A>G	ENST00000264363.2	-	2	858	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	60	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Y60Y(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCATTGACCTATATGGTAGAA	0.418000													24	40					0	0	0.002299	0	0
MMP16	4325	broad.mit.edu	37	8	89053837	89053837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:89053837G>T	ENST00000286614.6	-	10	1957	c.1676C>A	c.(1675-1677)gCc>gAc	p.A559D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	559					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.A559D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CACAGTGCTGGCTGTGTTGTC	0.453000													16	115					0.006122	0.00680223	0.006122	1	0
ATM	472	broad.mit.edu	37	11	108115735	108115735	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:108115735G>C	ENST00000278616.4	+	7	1268	c.883G>C	c.(883-885)Gcc>Ccc	p.A295P	ATM_ENST00000452508.2_Missense_Mutation_p.A295P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	295					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.A295P(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCGAAAGGAGCCAAAACCCA	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	16					0	0	0.004990	0	0
GALNT14	79623	broad.mit.edu	37	2	31215762	31215762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:31215762G>T	ENST00000349752.5	-	2	880	c.241C>A	c.(241-243)Cag>Aag	p.Q81K	GALNT14_ENST00000420311.2_Missense_Mutation_p.Q46K|GALNT14_ENST00000406653.1_Missense_Mutation_p.Q61K|GALNT14_ENST00000356174.3_Missense_Mutation_p.Q81K|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	81						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Q81K(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTCTCCCGCTGGTTGAAAGCA	0.562000													93	79					5.0909e-33	9.16752e-33	0.003610	1	0
NTNG1	22854	broad.mit.edu	37	1	107867518	107867518	+	Silent	SNP	G	G	T	rs142977353	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:107867518G>T	ENST00000370067.1	+	3	1488	c.861G>T	c.(859-861)gcG>gcT	p.A287A	NTNG1_ENST00000370072.3_Silent_p.A287A|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Silent_p.A287A|NTNG1_ENST00000370061.3_Silent_p.A287A|NTNG1_ENST00000370066.1_Silent_p.A287A|NTNG1_ENST00000542803.1_Silent_p.A287A|NTNG1_ENST00000370068.1_Silent_p.A287A|NTNG1_ENST00000370070.2_Silent_p.A287A|NTNG1_ENST00000370071.2_Silent_p.A287A|NTNG1_ENST00000370073.2_Silent_p.A287A|NTNG1_ENST00000370074.4_Silent_p.A287A			Q9Y2I2	NTNG1_HUMAN	netrin G1	287	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A287A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACTTTTACGCGATCTCAGACA	0.458000													9	57					0.00448238	0.00500408	0.004482	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363044	17363044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:17363044A>T	ENST00000377602.4	-	8	1104	c.1030T>A	c.(1030-1032)Tgg>Agg	p.W344R		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	344					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.W344R(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GAGAAGGGCCAGAATCCATAC	0.438000													47	142					0	0	0.002522	0	0
NLGN1	22871	broad.mit.edu	37	3	173997429	173997429	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:173997429T>A	ENST00000457714.1	+	6	2067	c.1638T>A	c.(1636-1638)ttT>ttA	p.F546L	NLGN1_ENST00000361589.4_Missense_Mutation_p.F546L|NLGN1_ENST00000545397.1_Missense_Mutation_p.F546L|NLGN1_ENST00000401917.3_Missense_Mutation_p.F586L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	563					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.F546L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGACAAATTTTGCTAAAACTG	0.318000													12	51					0	0	0.002450	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717353	222717353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:222717353C>A	ENST00000343410.6	-	2	558	c.500G>T	c.(499-501)cGc>cTc	p.R167L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	167					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R167L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTGGCAGAAGCGGGTACCGTC	0.552000													111	74					5.10254e-61	9.59277e-61	0.003610	1	0
USH2A	7399	broad.mit.edu	37	1	216370054	216370054	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:216370054G>A	ENST00000366943.2	-	19	4478	c.4092C>T	c.(4090-4092)ttC>ttT	p.F1364F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Silent_p.F1364F|USH2A_ENST00000307340.3_Silent_p.F1364F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1364					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGGATCATGAATACAGGTG	0.363000										HNSCC(13;0.011)			6	40					0	0	0.001984	0	0
SEC23B	10483	broad.mit.edu	37	20	18535781	18535781	+	Silent	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:18535781A>C	ENST00000336714.3	+	19	2610	c.2178A>C	c.(2176-2178)ccA>ccC	p.P726P	SEC23B_ENST00000377465.1_Silent_p.P726P|SEC23B_ENST00000377475.3_Silent_p.P726P|SEC23B_ENST00000262544.2_Silent_p.P726P	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	726					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.P726P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AAGTGAACCCATCTCAGACAC	0.318000													9	34					0	0	0.000978	0	0
HTR1F	3355	broad.mit.edu	37	3	88040204	88040204	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:88040204T>A	ENST00000319595.4	+	1	359	c.305T>A	c.(304-306)gTt>gAt	p.V102D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	102					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGGCTGAGTGTTGACATTACC	0.478000													12	88					0	0	0.000978	0	0
CYP2E1	1571	broad.mit.edu	37	10	135351254	135351254	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:135351254G>T	ENST00000463117.2	+	10	1427		c.e10-1		SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Splice_Site			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1						drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTTTCTCCTAGGGCACAGTCG	0.398000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	43					0.00307968	0.0034711	0.003080	1	0
MORC1	27136	broad.mit.edu	37	3	108829607	108829607	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:108829607T>A	ENST00000232603.5	-	3	225	c.143A>T	c.(142-144)gAt>gTt	p.D48V	MORC1_ENST00000483760.1_Missense_Mutation_p.D48V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	48					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.D48V(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGAAAAGACATCAAGTCTTTC	0.299000													13	14					0	0	0.002450	0	0
MYBPC2	4606	broad.mit.edu	37	19	50961849	50961849	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:50961849G>C	ENST00000357701.5	+	21	2395	c.2344G>C	c.(2344-2346)Gaa>Caa	p.E782Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	782	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E782Q(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCAGCCGAGGAATGGGTCCC	0.652000													6	22					0	0	0.001168	0	0
EPHA6	285220	broad.mit.edu	37	3	97167531	97167531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:97167531C>A	ENST00000389672.5	+	7	1889	c.1851C>A	c.(1849-1851)taC>taA	p.Y617*	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	522						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Y523*(2)|p.Y617*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGACAGGATACAGTGGCTACA	0.398000													13	68					1.41608e-15	2.21852e-15	0.001855	1	0
COL22A1	169044	broad.mit.edu	37	8	139629166	139629166	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:139629166G>T	ENST00000303045.6	-	54	4307	c.3861C>A	c.(3859-3861)ccC>ccA	p.P1287P	COL22A1_ENST00000435777.1_Silent_p.P1267P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1287	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGGGACCGGGTGCACCAG	0.582000										HNSCC(7;0.00092)			10	148					3.07112e-06	3.85943e-06	0.000978	1	0
MYO5C	55930	broad.mit.edu	37	15	52539167	52539167	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:52539167C>A	ENST00000261839.7	-	16	2087	c.1926G>T	c.(1924-1926)acG>acT	p.T642T	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	642	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.T642T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGGGGCGTCGTCGCATTGA	0.458000													12	36					4.3838e-07	5.7233e-07	0.001855	1	0
TBX18	9096	broad.mit.edu	37	6	85457659	85457659	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:85457659G>T	ENST00000369663.5	-	5	1255	c.918C>A	c.(916-918)gtC>gtA	p.V306V	TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438000													5	26					0.00198382	0.00224133	0.001984	1	0
SNX33	257364	broad.mit.edu	37	15	75942210	75942210	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:75942210C>G	ENST00000308527.5	+	1	1964	c.767C>G	c.(766-768)cCc>cGc	p.P256R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	256	PX.				cell communication		phosphatidylinositol binding|protein binding	p.P256R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AAGCTCACACCCACCCATGCT	0.542000													72	100					0	0	0.003610	0	0
REG1A	5967	broad.mit.edu	37	2	79349206	79349206	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:79349206C>A	ENST00000233735.1	+	4	379	c.276C>A	c.(274-276)ggC>ggA	p.G92G		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	92	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G92G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGGAGAGTGGCACTGATGACT	0.502000													28	124					7.68411e-24	1.31329e-23	0.008361	1	0
SPTA1	6708	broad.mit.edu	37	1	158617426	158617426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:158617426G>T	ENST00000368148.3	-	27	3979	c.3799C>A	c.(3799-3801)Ctg>Atg	p.L1267M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1267M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1267					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1267M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTCATTCAGCTCCATTTTC	0.547000													20	145					5.35267e-07	6.93045e-07	0.007413	1	0
DMD	1756	broad.mit.edu	37	X	32509489	32509489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:32509489C>A	ENST00000357033.4	-	20	2733	c.2527G>T	c.(2527-2529)Gag>Tag	p.E843*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E839*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	843					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E838*(1)|p.E839*(1)|p.E843*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATCTGCTCCAATTGTTGT	0.423000													21	63					2.32416e-17	3.75379e-17	0.002299	1	0
KCNV2	169522	broad.mit.edu	37	9	2718919	2718919	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:2718919T>G	ENST00000382082.3	+	1	1418	c.1180T>G	c.(1180-1182)Tcc>Gcc	p.S394A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	394						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGCGCGCCACTCCACCGGACT	0.647000													12	66					0	0	0.000978	0	0
OCRL	4952	broad.mit.edu	37	X	128691359	128691359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:128691359C>A	ENST00000371113.4	+	5	461	c.296C>A	c.(295-297)cCt>cAt	p.P99H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.P99H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	99					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.P99H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTTGAAATCCCTGATGAGGAA	0.438000													39	33					1.02687e-29	1.80759e-29	0.003214	1	0
TENM2	57451	broad.mit.edu	37	5	167625975	167625975	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:167625975C>A	ENST00000519204.1	+	15	2773	c.2655C>A	c.(2653-2655)acC>acA	p.T885T	TENM2_ENST00000520394.1_Silent_p.T774T|TENM2_ENST00000403607.2_Silent_p.T830T|TENM2_ENST00000518659.1_Silent_p.T1006T|TENM2_ENST00000545108.1_Silent_p.T1006T					teneurin transmembrane protein 2									p.T839T(1)|p.T885T(1)|p.T1006T(1)									CCATGGACACCCTGGTGATGA	0.567000													38	49					1.06647e-15	1.6764e-15	0.003755	1	0
RMND5A	64795	broad.mit.edu	37	2	86992312	86992312	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:86992312A>G	ENST00000283632.4	+	5	1179	c.684A>G	c.(682-684)caA>caG	p.Q228Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	228								p.Q228Q(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TAAATCATCAAAAAGGTGAGT	0.368000													37	37					0	0	0.003755	0	0
FTSJ1	24140	broad.mit.edu	37	X	48341100	48341100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:48341100C>A	ENST00000019019.2	+	12	1298	c.869C>A	c.(868-870)cCc>cAc	p.P290H	FTSJ1_ENST00000348411.2_Missense_Mutation_p.P292H|FTSJ1_ENST00000396894.4_Missense_Mutation_p.P155H|FTSJ1_ENST00000456787.1_Missense_Mutation_p.P290H|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	292					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.P292H(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GAGATCCGCCCCCAGGACTGC	0.637000													13	25					7.93312e-07	1.02153e-06	0.002450	1	0
ANKFN1	162282	broad.mit.edu	37	17	54431392	54431392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:54431392C>T	ENST00000566473.2	+	5	595	c.595C>T	c.(595-597)Cga>Tga	p.R199*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.R199*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	199								p.R199*(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GACAGGGGCCCGAGAAAGTCC	0.468000													7	59					0	0	0.004482	0	0
ALB	213	broad.mit.edu	37	4	74277728	74277728	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:74277728G>C	ENST00000295897.4	+	7	818	c.729G>C	c.(727-729)ctG>ctC	p.L243L	ALB_ENST00000401494.3_Silent_p.L128L|ALB_ENST00000509063.1_Silent_p.L243L|ALB_ENST00000503124.1_Silent_p.L93L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.L51L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	243	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.L243L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TAGCTCGCCTGAGCCAGAGAT	0.393000													14	79					0	0	0.002450	0	0
FAM71B	153745	broad.mit.edu	37	5	156590618	156590618	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:156590618G>C	ENST00000302938.4	-	2	753	c.658C>G	c.(658-660)Cct>Gct	p.P220A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	220						nucleus		p.P220A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACATCACAAGGCTTGTAGAGC	0.537000													51	93					0	0	0.003610	0	0
KCNK2	3776	broad.mit.edu	37	1	215345436	215345436	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:215345436T>C	ENST00000444842.2	+	5	883	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L	KCNK2_ENST00000391895.2_Missense_Mutation_p.F241L|KCNK2_ENST00000391894.2_Missense_Mutation_p.F230L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	245							outward rectifier potassium channel activity	p.F230L(1)|p.F245L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGCGATCATATTCAAACACAT	0.408000													35	112					0	0	0.002836	0	0
GEMIN4	50628	broad.mit.edu	37	17	649339	649339	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:649339T>C	ENST00000576778.1	-	1	3252	c.1911A>G	c.(1909-1911)ccA>ccG	p.P637P	GEMIN4_ENST00000319004.5_Silent_p.P648P			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	648					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCACCTCGTCTGGCTCAAGAA	0.488000													13	44					0	0	0.001368	0	0
WDR7	23335	broad.mit.edu	37	18	54361912	54361912	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:54361912G>C	ENST00000254442.3	+	10	1240	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L343L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	343										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCATAAACTGTTAATTCAGG	0.343000													6	33					0	0	0.001168	0	0
NLGN1	22871	broad.mit.edu	37	3	173322495	173322495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:173322495G>C	ENST00000457714.1	+	3	536	c.107G>C	c.(106-108)tGt>tCt	p.C36S	NLGN1_ENST00000361589.4_Missense_Mutation_p.C36S|NLGN1_ENST00000545397.1_Missense_Mutation_p.C36S|NLGN1_ENST00000401917.3_Missense_Mutation_p.C36S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	36					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.C36S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGTTGGGATGTTTGCTTCAG	0.493000													58	98					0	0	0.003610	0	0
NLRX1	79671	broad.mit.edu	37	11	119045416	119045416	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:119045416C>G	ENST00000409109.1	+	6	1691	c.1104C>G	c.(1102-1104)tgC>tgG	p.C368W	NLRX1_ENST00000292199.2_Missense_Mutation_p.C368W|NLRX1_ENST00000525863.1_Missense_Mutation_p.C368W|NLRX1_ENST00000409991.1_Missense_Mutation_p.C368W|NLRX1_ENST00000409265.4_Missense_Mutation_p.C368W			Q86UT6	NLRX1_HUMAN	NLR family member X1	368	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.C368W(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGCCTGCTTCCTGCCGT	0.612000													16	60					0	0	0.004990	0	0
PDHA2	5161	broad.mit.edu	37	4	96761790	96761790	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:96761790C>T	ENST00000295266.4	+	1	552	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	163					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G163G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGGGCAATGGCATCGTCGGTG	0.507000													26	64					0	0	0.003330	0	0
MAFG	4097	broad.mit.edu	37	17	79880889	79880889	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:79880889C>G	ENST00000357736.4	-	3	296	c.81G>C	c.(79-81)gaG>gaC	p.E27D	RP11-498C9.12_ENST00000580897.1_RNA|MAFG_ENST00000392366.3_Missense_Mutation_p.E27D	NM_002359.3|NM_032711.3	NP_002350.1|NP_116100.2	O15525	MAFG_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G	27					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E27D(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCACCAGCTCCTCATCCGTCA	0.677000													20	15					0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196737076	196737076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:196737076C>A	ENST00000312428.6	-	40	6631	c.6531G>T	c.(6529-6531)ttG>ttT	p.L2177F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2177	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L2177F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGGTTGAACAAGTAGTGAG	0.393000													24	57					1.64293e-13	2.50707e-13	0.003330	1	0
DNPEP	23549	broad.mit.edu	37	2	220239586	220239586	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:220239586G>A	ENST00000273075.4	-	14	1618	c.1398C>T	c.(1396-1398)acC>acT	p.T466T	DNPEP_ENST00000373972.1_Silent_p.T391T|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.T474T	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	456					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.T466T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CCTTGAAGAGGGTGAGGGTCT	0.612000													15	42					0	0	0.004990	0	0
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:76262729C>G	ENST00000263187.3	+	1	163	c.59C>G	c.(58-60)tCg>tGg	p.S20W		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602000								Mismatch excision repair (MMR)					7	80					0	0	0.003080	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648891	57648891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:57648891C>A	ENST00000402412.1	-	24	3028	c.2638G>T	c.(2638-2640)Ggg>Tgg	p.G880W	R3HDM2_ENST00000393811.2_Missense_Mutation_p.G593W|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G866W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G866W|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G561W|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G900W			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	866						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCACCCGCCCCAGGACTGGA	0.582000													9	86					1.96292e-10	2.75395e-10	0.001523	1	0
UNC13C	440279	broad.mit.edu	37	15	54307398	54307398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:54307398G>T	ENST00000545554.1	+	1	2298	c.2298G>T	c.(2296-2298)ttG>ttT	p.L766F	UNC13C_ENST00000260323.11_Missense_Mutation_p.L766F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L766F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	766					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.L766F(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGTGAATTGCAAAGTGATG	0.393000													9	14					0.000442599	0.000512369	0.006214	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004894	55004894	+	Silent	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:55004894T>G	ENST00000216420.7	+	6	924	c.792T>G	c.(790-792)gtT>gtG	p.V264V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	264					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGTGAAGTTGAGCCATCGG	0.443000													14	58					0	0	0.002450	0	0
OR14I1	401994	broad.mit.edu	37	1	248845247	248845247	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:248845247C>T	ENST00000342623.3	-	1	382	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)|p.R120H(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGCAACATAGCGGTCATAAGA	0.498000													25	35					0	0	0.003954	0	0
YIPF7	285525	broad.mit.edu	37	4	44653604	44653604	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:44653604A>G	ENST00000332990.5	-	1	54	c.38T>C	c.(37-39)tTa>tCa	p.L13S	YIPF7_ENST00000508947.1_Intron	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	13						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATCCTCCAGTAAATGTAGCTT	0.333000													3	6					0	0	0.000248	0	0
COL15A1	1306	broad.mit.edu	37	9	101810095	101810095	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:101810095G>A	ENST00000375001.3	+	27	3130	c.2707G>A	c.(2707-2709)Gga>Aga	p.G903R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	903	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G903R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGACATAAAGGAGAATTTGG	0.547000													32	258					0	0	0.008361	0	0
ATP11C	286410	broad.mit.edu	37	X	138856885	138856885	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:138856885A>T	ENST00000370557.1	-	19	3207	c.2180T>A	c.(2179-2181)cTg>cAg	p.L727Q	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.L730Q|ATP11C_ENST00000361648.2_Missense_Mutation_p.L730Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.L730Q|ATP11C_ENST00000327569.3_Missense_Mutation_p.L730Q			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	730					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L730Q(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAACTCATGCAGCAATTTCTT	0.318000													47	62					0	0	0.002852	0	0
PCDH15	65217	broad.mit.edu	37	10	55782832	55782832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:55782832C>A	ENST00000373965.2	-	20	2761	c.2367G>T	c.(2365-2367)agG>agT	p.R789S	PCDH15_ENST00000409834.1_Missense_Mutation_p.R393S|PCDH15_ENST00000395433.1_Missense_Mutation_p.R760S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R782S|PCDH15_ENST00000395432.2_Missense_Mutation_p.R745S|PCDH15_ENST00000395430.1_Missense_Mutation_p.R782S|PCDH15_ENST00000437009.1_Missense_Mutation_p.R711S|PCDH15_ENST00000320301.6_Missense_Mutation_p.R782S|PCDH15_ENST00000414778.1_Missense_Mutation_p.R787S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R789S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R782S|PCDH15_ENST00000361849.3_Missense_Mutation_p.R782S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	782	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R782S(2)|p.R787S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATAGTAGTCCCTGACTTCTC	0.413000										HNSCC(58;0.16)			11	57					0.00829132	0.00919085	0.008291	1	0
PCDH15	65217	broad.mit.edu	37	10	56089382	56089382	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:56089382G>C	ENST00000373965.2	-	7	1073	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R205G|PCDH15_ENST00000373957.3_Missense_Mutation_p.R205G|PCDH15_ENST00000395446.1_Missense_Mutation_p.R227G|PCDH15_ENST00000373955.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R227G|PCDH15_ENST00000437009.1_Missense_Mutation_p.R227G|PCDH15_ENST00000320301.6_Missense_Mutation_p.R227G|PCDH15_ENST00000414778.1_Missense_Mutation_p.R232G|PCDH15_ENST00000395440.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395445.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395438.1_Missense_Mutation_p.R227G|PCDH15_ENST00000361849.3_Missense_Mutation_p.R227G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	227	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAAGTAGCGAGTCTTATCT	0.313000										HNSCC(58;0.16)			6	101					0	0	0.004482	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696883	17696883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:17696883C>A	ENST00000399080.2	-	1	2823	c.2800G>T	c.(2800-2802)Ggt>Tgt	p.G934C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	934										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCACTCAGACCAGTTTCAAAT	0.323000													5	29					1.23904e-05	1.52447e-05	0.000602	1	0
PLCE1	51196	broad.mit.edu	37	10	96064273	96064273	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:96064273G>A	ENST00000260766.3	+	25	6127	c.5493G>A	c.(5491-5493)gaG>gaA	p.E1831E	PLCE1_ENST00000371385.3_Silent_p.E1523E|PLCE1_ENST00000371380.2_Silent_p.E1831E|PLCE1_ENST00000371375.1_Silent_p.E1523E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1831	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E1831E(1)|p.E1523E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAATGTTTGAGGCAAATGGTG	0.383000													60	88					0	0	0.003610	0	0
TMEM171	134285	broad.mit.edu	37	5	72419547	72419547	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:72419547G>A	ENST00000454765.2	+	2	820	c.347G>A	c.(346-348)gGg>gAg	p.G116E	TMEM171_ENST00000287773.5_Missense_Mutation_p.G116E			Q8WVE6	TM171_HUMAN	transmembrane protein 171	116						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CTTATCTTTGGGTTTCTGTTC	0.587000													8	177					0	0	0.004482	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214252	3214252	+	RNA	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:3214252C>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA														p.L216L(1)									CCTTGGTCCTCATCACTGTGT	0.567000													24	67					2.21704e-12	3.29749e-12	0.002780	1	0
GBP7	388646	broad.mit.edu	37	1	89598950	89598950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:89598950G>T	ENST00000294671.2	-	10	1791	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	551						integral to membrane	GTP binding|GTPase activity	p.H551Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCTTCATCTTGTGACTCAACA	0.423000													16	85					2.4624e-09	3.4039e-09	0.008871	1	0
PTER	9317	broad.mit.edu	37	10	16526805	16526805	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:16526805C>G	ENST00000378000.1	+	3	668	c.422C>G	c.(421-423)tCa>tGa	p.S141*	PTER_ENST00000423462.2_Nonsense_Mutation_p.S141*|PTER_ENST00000535784.2_Nonsense_Mutation_p.S141*|PTER_ENST00000298942.3_Nonsense_Mutation_p.S141*|PTER_ENST00000485788.1_3'UTR	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	141					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	p.S141*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AGGGCCATGTCAGTGGAGCAG	0.488000													9	50					0	0	0.004482	0	0
EGLN2	112398	broad.mit.edu	37	19	41313712	41313712	+	Splice_Site	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:41313712A>C	ENST00000593726.1	+	5	2196		c.e5-1		EGLN2_ENST00000594140.1_Splice_Site|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Splice_Site|RAB4B-EGLN2_ENST00000594136.1_Splice_Site|EGLN2_ENST00000303961.4_Splice_Site			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2						cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	p.?(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TCTCACCCCCAGCATCAGGAC	0.567000											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	0.001855	0	0
IDH3G	3421	broad.mit.edu	37	X	153052271	153052271	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:153052271G>A	ENST00000370092.3	-	10	1094	c.909C>T	c.(907-909)taC>taT	p.Y303Y	IDH3G_ENST00000427365.2_Silent_p.Y245Y|IDH3G_ENST00000370093.1_Silent_p.Y303Y|IDH3G_ENST00000217901.5_Silent_p.Y303Y	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	303					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.Y303Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAAACACCGCGTACACATGGC	0.592000													107	133					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708890	176708890	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:176708890C>G	ENST00000367662.3	+	13	5091	c.3927C>G	c.(3925-3927)caC>caG	p.H1309Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1309					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGCAACCACTCTCTTGGTG	0.478000													7	63					0	0	0.003080	0	0
COMMD8	54951	broad.mit.edu	37	4	47455122	47455122	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:47455122C>T	ENST00000381571.4	-	4	552	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	162	COMM.						protein binding	p.R162K(1)		large_intestine(2)|lung(5)|prostate(1)	8						CAGCTCCTCTCTACTCATTTC	0.353000													14	60					0	0	0.001855	0	0
SDK1	221935	broad.mit.edu	37	7	4153064	4153064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:4153064G>T	ENST00000404826.2	+	24	3717	c.3578G>T	c.(3577-3579)cGc>cTc	p.R1193L	SDK1_ENST00000389531.3_Missense_Mutation_p.R1193L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1193	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1193L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGCGGCTTCGCTGGGTGGTG	0.637000													40	157					1.11015e-26	1.91827e-26	0.003610	1	0
FAM3A	60343	broad.mit.edu	37	X	153736186	153736186	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:153736186C>A	ENST00000447601.2	-	6	807	c.341G>T	c.(340-342)aGc>aTc	p.S114I	FAM3A_ENST00000359889.5_Missense_Mutation_p.S114I|FAM3A_ENST00000369643.1_Missense_Mutation_p.S114I|FAM3A_ENST00000369641.3_Missense_Mutation_p.S121I|FAM3A_ENST00000393572.1_Missense_Mutation_p.S76I|FAM3A_ENST00000434658.2_Intron	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	114						extracellular region		p.S114I(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCTCGCCGCTGACCCCTGT	0.672000													10	7					1.11149e-13	1.71279e-13	0.008291	1	0
CCDC178	374864	broad.mit.edu	37	18	30846968	30846968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:30846968C>A	ENST00000383096.3	-	14	1503	c.1321G>T	c.(1321-1323)Gct>Tct	p.A441S	CCDC178_ENST00000583930.1_Missense_Mutation_p.A441S|CCDC178_ENST00000402325.1_Missense_Mutation_p.A441S|CCDC178_ENST00000403303.1_Missense_Mutation_p.A441S|CCDC178_ENST00000300227.8_Missense_Mutation_p.A441S|CCDC178_ENST00000406524.2_Missense_Mutation_p.A441S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.A441S					coiled-coil domain containing 178									p.A441S(2)									AAAGAAATAGCTGAAAAATCT	0.279000													64	8					1.72039e-30	3.06281e-30	0.003610	1	0
IL9R	3581	broad.mit.edu	37	X	155234200	155234200	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:155234200G>A	ENST00000424344.3	+	6	853	c.486G>A	c.(484-486)ctG>ctA	p.L162L	IL9R_ENST00000244174.5_Silent_p.L183L|IL9R_ENST00000369423.2_Silent_p.L218L|IL9R_ENST00000540897.1_Silent_p.L208L			Q01113	IL9R_HUMAN	interleukin 9 receptor	183	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTATGAGCTGGCCTTCAAGA	0.572000													10	95					0	0	0.008291	0	0
PKP3	11187	broad.mit.edu	37	11	403755	403755	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:403755G>T	ENST00000331563.2	+	10	2137	c.2061G>T	c.(2059-2061)agG>agT	p.R687S		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	687					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACGCTAGGAACAAGGACG	0.592000													7	37					1.06961e-07	1.42818e-07	0.003080	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								14	27					0	0	0.003163	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008841	142008841	+	RNA	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:142008841C>G	ENST00000390387.3	+	0	361																											CTTGGTGACTCTGCTGTGTAT	0.498000													6	45					0	0	0.003080	0	0
SLC26A6	65010	broad.mit.edu	37	3	48667389	48667389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:48667389G>A	ENST00000358747.6	-	12	1632	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	SLC26A6_ENST00000395550.2_Missense_Mutation_p.T482M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.T482M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.T375M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.T482M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.T446M	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GATGGTGGCCGTGAAGGTCAC	0.627000													9	76					0	0	0.006214	0	0
DSE	29940	broad.mit.edu	37	6	116758380	116758380	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:116758380G>T	ENST00000331677.3	+	7	3193	c.2749G>T	c.(2749-2751)Gca>Tca	p.A917S	DSE_ENST00000537543.1_Missense_Mutation_p.A936S|DSE_ENST00000452085.3_Missense_Mutation_p.A917S|DSE_ENST00000359564.2_Missense_Mutation_p.A917S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	917					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.A917S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTCATGTTGGCAATGCAACT	0.433000													19	41					9.7654e-05	0.000116787	0.007413	1	0
CTNNA2	1496	broad.mit.edu	37	2	80773162	80773162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:80773162C>A	ENST00000466387.1	+	15	2238	c.1514C>A	c.(1513-1515)tCa>tAa	p.S505*	CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.S539*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.S184*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.S505*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	505					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.S505*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACATCACCTCAGTGGATGAC	0.512000													8	36					0.000157383	0.000186323	0.003080	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	RNA	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393000													2	2					0	0	0.004672	0	0
CHDC2	286464	broad.mit.edu	37	X	36103605	36103605	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:36103605A>T	ENST00000378660.1	+	5	779	c.591A>T	c.(589-591)aaA>aaT	p.K197N	CHDC2_ENST00000313548.4_Missense_Mutation_p.K197N					calponin homology domain containing 2									p.K197N(1)									ACCATGAAAAAAGGGTAATTC	0.368000													11	33					0	0	0.001368	0	0
NFATC2	4773	broad.mit.edu	37	20	50051770	50051770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:50051770C>A	ENST00000371564.3	-	8	2206	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	NFATC2_ENST00000414705.1_Missense_Mutation_p.G643W|NFATC2_ENST00000396009.3_Missense_Mutation_p.G663W	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	663					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.G663W(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCTCTTCCCATTGATGACG	0.453000													29	117					4.43304e-23	7.52176e-23	0.006320	1	0
RAD54B	25788	broad.mit.edu	37	8	95390439	95390439	+	Silent	SNP	G	G	A	rs149121834		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:95390439G>A	ENST00000336148.5	-	14	2608	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACACTCACAGTCAAGCAGAT	0.299000								Direct reversal of damage;Homologous recombination					4	26					0	0	0.000248	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546052	138546052	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:138546052C>A	ENST00000440172.1	-	16	5128	c.5080G>T	c.(5080-5082)Gcc>Tcc	p.A1694S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644S|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1694S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1694						integral to membrane		p.A1644S(1)|p.A1694S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCAAAGGCGTCGTCCAGG	0.697000			O	BRAF	pilocytic astrocytoma								17	46					1.5739e-10	2.22811e-10	0.004007	1	0
SPRY3	10251	broad.mit.edu	37	X	155003884	155003884	+	Silent	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:155003884T>A	ENST00000302805.2	+	2	782	c.351T>A	c.(349-351)ccT>ccA	p.P117P		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	117					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.P117P(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACCCAACCTGGAGCAGGGG	0.552000													54	93					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49670342	49670342	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:49670342C>A	ENST00000561648.1	-	4	2774	c.2721G>T	c.(2719-2721)cgG>cgT	p.R907R	ZNF423_ENST00000562871.1_Silent_p.R847R|ZNF423_ENST00000535559.1_Silent_p.R790R|ZNF423_ENST00000563137.2_Silent_p.R847R|ZNF423_ENST00000562520.1_Silent_p.R847R|ZNF423_ENST00000262383.2_Silent_p.R907R|ZNF423_ENST00000567169.1_Silent_p.R790R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	907					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TATTGTGGTCCCGCAGCCGGT	0.587000													15	91					2.61681e-11	3.83147e-11	0.002450	1	0
PPP2CA	5515	broad.mit.edu	37	5	133541766	133541766	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:133541766A>G	ENST00000481195.1	-	2	439	c.159T>C	c.(157-159)acT>acC	p.T53T	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000518409.1_5'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme									p.T53T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCACAGACAGTAACTGGAC	0.388000													36	63					0	0	0.005524	0	0
FERMT2	10979	broad.mit.edu	37	14	53327080	53327080	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:53327080C>T	ENST00000395631.2	-	13	1922	c.1706G>A	c.(1705-1707)gGc>gAc	p.G569D	FERMT2_ENST00000341590.3_Missense_Mutation_p.G569D|FERMT2_ENST00000399304.3_Missense_Mutation_p.G576D|FERMT2_ENST00000553373.1_Missense_Mutation_p.G576D|FERMT2_ENST00000343279.4_Missense_Mutation_p.G576D|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	569	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GTGAGTGATGCCAAATTCAGG	0.388000													4	32					0	0	0.000248	0	0
SCUBE3	222663	broad.mit.edu	37	6	35199627	35199627	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:35199627C>A	ENST00000274938.7	+	4	460	c.460C>A	c.(460-462)Cgg>Agg	p.R154R	SCUBE3_ENST00000394681.1_Silent_p.R154R	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	154					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGTATCCAGCGGCCAGAAGG	0.617000													11	80					0.00136819	0.00155326	0.001368	1	0
PRR25	388199	broad.mit.edu	37	16	855579	855579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:855579G>T	ENST00000301698.1	+	1	137	c.137G>T	c.(136-138)cGt>cTt	p.R46L		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	46										large_intestine(1)|lung(1)|skin(1)	3						ATCCTGCTACGTGGAGACCAG	0.652000													6	28					0.00116845	0.00132971	0.001168	1	0
SHANK3	85358	broad.mit.edu	37	22	51117202	51117202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:51117202C>T	ENST00000414786.2	+	5	681	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	SHANK3_ENST00000445220.2_Missense_Mutation_p.P152S|SHANK3_ENST00000262795.3_Missense_Mutation_p.P152S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	152								p.P152F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGAGTGCCCCCTGAGCCT	0.637000													20	21					0	0	0.001523	0	0
PCDH18	54510	broad.mit.edu	37	4	138442797	138442797	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:138442797A>T	ENST00000344876.4	-	4	3180	c.2794T>A	c.(2794-2796)Tgg>Agg	p.W932R	PCDH18_ENST00000511115.1_Missense_Mutation_p.W112R|PCDH18_ENST00000510305.1_Missense_Mutation_p.W143R|PCDH18_ENST00000507846.1_Missense_Mutation_p.W711R|PCDH18_ENST00000412923.2_Missense_Mutation_p.W931R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	932	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.W932R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGGCATCCAGCACTGGTCA	0.507000													46	178					0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64122799	64122799	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:64122799T>A	ENST00000359902.2	+	12	1697	c.1547T>A	c.(1546-1548)cTg>cAg	p.L516Q	CCDC88B_ENST00000356786.5_Silent_p.P1411P|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Silent_p.P74P			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1357					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATTCAGCCCTGGGGACACCC	0.657000											OREG0021052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0.004672	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795933	100795933	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:100795933T>G	ENST00000361529.3	+	6	956	c.878T>G	c.(877-879)tTc>tGc	p.F293C	SLC25A47_ENST00000557052.1_Missense_Mutation_p.F147C	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	293					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.F293C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ATGGTGGTCTTCGTCGCCTAT	0.642000													28	106					0	0	0.002096	0	0
SYN3	8224	broad.mit.edu	37	22	33265006	33265006	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:33265006G>C	ENST00000358763.2	-	5	810	c.568C>G	c.(568-570)Cct>Gct	p.P190A	SYN3_ENST00000332840.5_Missense_Mutation_p.P190A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.P190A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGACAGCAGGCAGCCCTCCA	0.612000													13	42					0	0	0.002450	0	0
MBD4	8930	broad.mit.edu	37	3	129155735	129155735	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:129155735C>A	ENST00000429544.2	-	3	947	c.752G>T	c.(751-753)aGg>aTg	p.R251M	MBD4_ENST00000249910.1_Missense_Mutation_p.R251M|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.R251M|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.R251M	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	251					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	p.R251M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ACAGCTCTTCCTACATCCTTT	0.368000								Base excision repair (BER), DNA glycosylases					55	102					4.37618e-36	8.00314e-36	0.003610	1	0
L1TD1	54596	broad.mit.edu	37	1	62676875	62676875	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:62676875T>A	ENST00000498273.1	+	4	2724	c.2429T>A	c.(2428-2430)gTc>gAc	p.V810D		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	810										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tggagcaatgtcttcaaagtt	0.378000													4	8					0	0	0.000248	0	0
TMEM194A	23306	broad.mit.edu	37	12	57457866	57457866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:57457866G>A	ENST00000300128.4	-	6	765	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	TMEM194A_ENST00000379391.3_Nonsense_Mutation_p.Q175*	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	248						integral to membrane		p.Q248*(1)|p.Q175*(1)		endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAAAGATACTGCCAGTAACAC	0.378000													4	27					0	0	0.000248	0	0
PDZD2	23037	broad.mit.edu	37	5	32077588	32077588	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:32077588C>G	ENST00000438447.1	+	19	3946	c.3558C>G	c.(3556-3558)acC>acG	p.T1186T	PDZD2_ENST00000282493.3_Silent_p.T1186T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1186					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.T1186T(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAAGCTGACCACTGGAGATG	0.498000													14	108					0	0	0.002450	0	0
KCNV1	27012	broad.mit.edu	37	8	110980325	110980325	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:110980325A>G	ENST00000524391.1	-	4	2527	c.1495T>C	c.(1495-1497)Tgg>Cgg	p.W499R	KCNV1_ENST00000297404.1_Missense_Mutation_p.W499R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	499						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.W499R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATTCAAAACCAGAAATCATCT	0.378000													12	56					0	0	0.001368	0	0
CRX	1406	broad.mit.edu	37	19	48342705	48342705	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:48342705C>A	ENST00000221996.7	+	4	587	c.381C>A	c.(379-381)ccC>ccA	p.P127P	CRX_ENST00000539067.1_Silent_p.P127P|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	127					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P127P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCCAAGACCCTCCACAGATG	0.672000													26	132					4.59853e-10	6.43247e-10	0.005443	1	0
MASP1	5648	broad.mit.edu	37	3	186953983	186953983	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:186953983A>T	ENST00000296280.6	-	11	1901	c.1676T>A	c.(1675-1677)cTg>cAg	p.L559Q	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.L446Q	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	558	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.L559Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGCTCCTGCAGCTGCACCAG	0.627000													18	111					0	0	0.008871	0	0
PTPRD	5789	broad.mit.edu	37	9	8492981	8492981	+	Splice_Site	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:8492981T>C	ENST00000381196.4	-	24	2893		c.e24-2		PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCATGTCCTGAAATGACAA	0.483000										TSP Lung(15;0.13)			27	94					0	0	0.003954	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795911	100795911	+	Missense_Mutation	SNP	T	T	G	rs150644466		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:100795911T>G	ENST00000361529.3	+	6	934	c.856T>G	c.(856-858)Ttc>Gtc	p.F286V	SLC25A47_ENST00000557052.1_Missense_Mutation_p.F140V	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	286					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.F286V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CTGCCGCGCCTTCCCTGTCAA	0.652000													29	124					0	0	0.008361	0	0
TERT	7015	broad.mit.edu	37	5	1272394	1272394	+	Splice_Site	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:1272394A>C	ENST00000310581.5	-	7	2345	c.2286_splice	c.e7-1	p.V763_splice	TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Splice_Site_p.V763_splice	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	763	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAAGGTAGAGACCTGCCGGCA	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	10					0	0	0.004482	0	0
HSPB1	3315	broad.mit.edu	37	7	75933446	75933446	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:75933446G>T	ENST00000248553.6	+	3	743	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	HSPB1_ENST00000429938.1_Missense_Mutation_p.G24W	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	192	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding	p.G192W(1)		large_intestine(1)|lung(3)	4						GGCCCAGCTTGGGGGCCCAGA	0.657000													6	18					5.18039e-06	6.45831e-06	0.003080	1	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521691	32521691	+	RNA	SNP	A	A	G	rs113051760	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:32521691A>G	ENST00000411500.1	-	0	792					NR_001298.1																						GGCCCAGCACAAAGCCCCCGA	0.488000													4	49					0	0	0.000248	0	0
OR4C16	219428	broad.mit.edu	37	11	55340015	55340015	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:55340015G>T	ENST00000314634.3	+	1	412	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V138F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AAGCCAGTGGGTCTGTGGTGT	0.512000													33	106					5.84002e-05	7.03797e-05	0.002445	1	0
SEC14L5	9717	broad.mit.edu	37	16	5057380	5057380	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:5057380C>T	ENST00000251170.7	+	13	1645	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	489						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGGGCTGGTCCCCAAGTCCCT	0.617000													6	29					0	0	0.001168	0	0
SI	6476	broad.mit.edu	37	3	164741538	164741538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:164741538C>A	ENST00000264382.3	-	26	2981	c.2919G>T	c.(2917-2919)gaG>gaT	p.E973D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	973	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E973D(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAAGTAACACTCAGGTGCTT	0.368000										HNSCC(35;0.089)			10	20					3.86212e-05	4.66631e-05	0.008291	1	0
CDYL2	124359	broad.mit.edu	37	16	80642134	80642134	+	Splice_Site	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:80642134T>A	ENST00000299564.8	-	6	1374		c.e6-2		CDYL2_ENST00000562812.1_Splice_Site|CDYL2_ENST00000563890.1_Splice_Site|CDYL2_ENST00000566173.1_Splice_Site	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTCATTGGCCTGAAAAAGCAA	0.617000													4	6					0	0	0.000248	0	0
EDN3	1908	broad.mit.edu	37	20	57876637	57876637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:57876637C>A	ENST00000311585.7	+	2	595	c.225C>A	c.(223-225)agC>agA	p.S75R	EDN3_ENST00000337938.2_Missense_Mutation_p.S75R|EDN3_ENST00000371028.2_Missense_Mutation_p.S75R|EDN3_ENST00000371025.3_Missense_Mutation_p.S75R|EDN3_ENST00000395654.3_Missense_Mutation_p.S75R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	75					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGGGTCCAAGCCCTGGAAGCC	0.677000													13	126					1.49906e-05	1.83958e-05	0.002450	1	0
SLC5A5	6528	broad.mit.edu	37	19	17985510	17985510	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:17985510C>T	ENST00000222248.3	+	4	860	c.513C>T	c.(511-513)acC>acT	p.T171T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	171					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCTGTCCACCGGAATTATCT	0.602000													7	58					0	0	0.001984	0	0
KANK4	163782	broad.mit.edu	37	1	62740108	62740108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:62740108C>A	ENST00000371153.4	-	3	1046	c.668G>T	c.(667-669)cGg>cTg	p.R223L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	223	Pro-rich.							p.R223L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTGGAATCCGAGTTGATGC	0.572000													15	45					2.32078e-09	3.21761e-09	0.003163	1	0
REPS2	9185	broad.mit.edu	37	X	17152022	17152022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:17152022G>C	ENST00000357277.3	+	15	1825	c.1654G>C	c.(1654-1656)Gca>Cca	p.A552P	REPS2_ENST00000303843.7_Missense_Mutation_p.A551P|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.A351P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	552	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	p.A552P(1)|p.A413P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AAGTAGTCCAGCAAAGAAGGT	0.517000													76	147					0	0	0.003610	0	0
NDST1	3340	broad.mit.edu	37	5	149919745	149919745	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:149919745C>G	ENST00000261797.6	+	8	2170	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	NDST1_ENST00000523767.1_Silent_p.L556L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	556	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L556L(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACGAACCTCCGGCTGCAGA	0.612000													10	75					0	0	0.008291	0	0
COL25A1	84570	broad.mit.edu	37	4	109822318	109822318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:109822318C>A	ENST00000399132.1	-	14	1321	c.791G>T	c.(790-792)gGg>gTg	p.G264V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G264V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G260V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	264	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCAGGCAACCCGGGCTCACC	0.378000													7	57					2.0095e-06	2.54572e-06	0.001984	1	0
LINC00957	255031	broad.mit.edu	37	7	44080465	44080465	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:44080465C>T	ENST00000441052.1	+	0	1150																											GACACGGACACAGGGGACAAT	0.667000													4	12					0	0	0.000248	0	0
MEP1A	4224	broad.mit.edu	37	6	46801130	46801130	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:46801130G>A	ENST00000230588.4	+	11	1473	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	488	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.V488V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTTTCATGTGTGCAGTGGGG	0.473000													28	254					0	0	0.008361	0	0
OC90	729330	broad.mit.edu	37	8	133044267	133044267	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr8:133044267T>A	ENST00000262283.5	-	16	1627	c.1528A>T	c.(1528-1530)Agt>Tgt	p.S510C	OC90_ENST00000443356.2_Missense_Mutation_p.S314C|OC90_ENST00000603859.1_Missense_Mutation_p.S298C|OC90_ENST00000254627.3_Missense_Mutation_p.S298C			Q02509	OC90_HUMAN	otoconin 90	314					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.S272C(1)|p.S510C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTGTCCCCACTTCCCAGGTGC	0.537000													17	121					0	0	0.004990	0	0
P2RY8	286530	broad.mit.edu	37	X	1584615	1584615	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:1584615C>A	ENST00000381297.4	-	2	1047	c.837G>T	c.(835-837)ctG>ctT	p.L279L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	279						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L279L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGAGACACAGCGTGAGCT	0.577000			T	CRLF2	"""B-ALL, Downs associated ALL"""								30	58					1.22384e-17	1.98346e-17	0.002836	1	0
PMFBP1	83449	broad.mit.edu	37	16	72184552	72184552	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:72184552G>A	ENST00000537465.1	-	5	749	c.591C>T	c.(589-591)tgC>tgT	p.C197C	PMFBP1_ENST00000237353.10_Silent_p.C197C|PMFBP1_ENST00000355636.6_Silent_p.C52C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	197								p.C197C(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTTCACTTGGCATTCTAGTA	0.527000													36	149					0	0	0.005524	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963072	106963072	+	RNA	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:106963072G>T	ENST00000390621.2	-	0	267																											TGAAAGGTGTGATCCATCCCA	0.542000													23	74					1.28384e-07	1.70453e-07	0.001882	1	0
RPH3A	22895	broad.mit.edu	37	12	113333615	113333615	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:113333615G>A	ENST00000389385.4	+	21	2388	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RPH3A_ENST00000420983.2_Missense_Mutation_p.A631T|RPH3A_ENST00000551052.1_Missense_Mutation_p.A627T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.A582T|RPH3A_ENST00000543106.2_Missense_Mutation_p.A631T|RPH3A_ENST00000447659.2_Missense_Mutation_p.A582T|RPH3A_ENST00000415485.3_Missense_Mutation_p.A631T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	631	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.A627T(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGTGACCTGGCAAAGAAGTC	0.468000													17	60					0	0	0.004990	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9663	9663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrM:9663G>A	ENST00000362079.2	+	1	457	c.457G>A	c.(457-459)Gaa>Aaa	p.153_153insK						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						ATAGTCTAATAGAAAACAACC	0.438000													148	30					0	0	0.003610	0	0
GRIK1	2897	broad.mit.edu	37	21	31062202	31062202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:31062202G>T	ENST00000399914.1	-	3	911	c.390C>A	c.(388-390)caC>caA	p.H130Q	GRIK1_ENST00000389124.2_Missense_Mutation_p.H130Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.H130Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.H130Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.H130Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	130					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.H130Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGGTCTGTATGTGTGGAACTT	0.517000													81	148					1.75807e-36	3.2277e-36	0.003610	1	0
ITIH5	80760	broad.mit.edu	37	10	7708826	7708826	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:7708826C>A	ENST00000256861.6	-	1	108	c.30G>T	c.(28-30)ggG>ggT	p.G10G	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.G10G|ITIH5_ENST00000397145.2_Silent_p.G10G	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	10					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G10G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAGGGACAGCCCCAGGCACA	0.746000													8	23					3.09899e-07	4.0799e-07	0.004482	1	0
ADCY6	112	broad.mit.edu	37	12	49171216	49171216	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:49171216C>A	ENST00000307885.4	-	4	1919	c.1225G>T	c.(1225-1227)Gcc>Tcc	p.A409S	ADCY6_ENST00000550422.1_Missense_Mutation_p.A409S|ADCY6_ENST00000357869.3_Missense_Mutation_p.A409S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	409					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	ATP binding|metal ion binding	p.A409F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCAAACCGGGCAAAGAGCTCA	0.592000													68	49					4.09171e-25	7.01862e-25	0.003610	1	0
C9orf131	138724	broad.mit.edu	37	9	35045314	35045314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:35045314C>A	ENST00000312292.5	+	2	2735	c.2688C>A	c.(2686-2688)agC>agA	p.S896R	C9orf131_ENST00000421362.2_Missense_Mutation_p.S848R|C9orf131_ENST00000354479.5_Missense_Mutation_p.S823R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	896								p.S896R(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGATGGTGAGCCAGGTCCCAT	0.552000													63	240					2.18419e-29	3.81625e-29	0.003610	1	0
HBG2	3048	broad.mit.edu	37	11	5275544	5275544	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:5275544T>A	ENST00000380259.2	-	7	1533	c.293A>T	c.(292-294)cAt>cTt	p.H98L	HBG2_ENST00000336906.4_Missense_Mutation_p.H98L|HBG2_ENST00000380252.1_Missense_Mutation_p.H88L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCCACATGCAGCTTGTC	0.498000													9	129					0	0	0.002450	0	0
BTBD6	90135	broad.mit.edu	37	14	105716678	105716678	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:105716678A>G	ENST00000463376.2	+	3	1443	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	BTBD6_ENST00000536364.1_Missense_Mutation_p.Y376C|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.Y376C|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.Y301C			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	376						cytoplasmic mRNA processing body		p.Y301C(1)		endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTGGGCCTGTATGGCTCCAGC	0.577000													16	56					0	0	0.004990	0	0
ZNF365	22891	broad.mit.edu	37	10	64136074	64136074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:64136074C>T	ENST00000395254.3	+	2	402	c.122C>T	c.(121-123)tCa>tTa	p.S41L	ZNF365_ENST00000395255.3_Missense_Mutation_p.S41L|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S41L	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.S41L(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAAGCTTGTCATCCTTGAGG	0.498000													28	73					0	0	0.004656	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652340	108652340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:108652340C>A	ENST00000218006.2	-	9	2140	c.1849G>T	c.(1849-1851)Ggg>Tgg	p.G617W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	617	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAAACATCCCCGAATCATAG	0.413000													9	74					1.76689e-08	2.40707e-08	0.006214	1	0
SNX32	254122	broad.mit.edu	37	11	65618622	65618622	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr11:65618622G>C	ENST00000308342.6	+	7	1125	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	234					cell communication|protein transport		phosphatidylinositol binding	p.A234P(1)|p.A234T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CGTCATGCGCGCCCACAAGTG	0.622000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	118					0	0	0.003755	0	0
LILRB1	10859	broad.mit.edu	37	19	55144512	55144512	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:55144512C>A	ENST00000396331.1	+	8	1361	c.1004C>A	c.(1003-1005)aCg>aAg	p.T335K	LILRB1_ENST00000396317.1_Missense_Mutation_p.T335K|LILRB1_ENST00000396327.3_Missense_Mutation_p.T335K|LILRB1_ENST00000427581.2_Missense_Mutation_p.T371K|LILRB1_ENST00000396321.2_Missense_Mutation_p.T335K|LILRB1_ENST00000396332.4_Missense_Mutation_p.T335K|LILRB1_ENST00000448689.1_Missense_Mutation_p.T335K|LILRB1_ENST00000418536.2_Missense_Mutation_p.T335K|LILRB1_ENST00000324602.7_Missense_Mutation_p.T335K|LILRB1_ENST00000396315.1_Missense_Mutation_p.T335K|LILRB1_ENST00000434867.2_Missense_Mutation_p.T335K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	335	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.T335K(1)		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)		CCGGGCCCCACGGTGGCCTCA	0.607000										HNSCC(37;0.09)			30	68					4.3181e-19	7.09618e-19	0.002836	1	0
COL11A1	1301	broad.mit.edu	37	1	103544335	103544335	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:103544335C>T	ENST00000358392.2	-	3	684	c.367G>A	c.(367-369)Ggt>Agt	p.G123S	COL11A1_ENST00000353414.4_Missense_Mutation_p.G123S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G123S|COL11A1_ENST00000370096.3_Missense_Mutation_p.G123S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	123	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G123S(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTGAATACCATGCTCATTA	0.388000													6	39					0	0	0.001168	0	0
PET112	5188	broad.mit.edu	37	4	152622522	152622522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:152622522G>A	ENST00000263985.6	-	9	1196	c.1156C>T	c.(1156-1158)Caa>Taa	p.Q386*	PET112_ENST00000515812.1_Nonsense_Mutation_p.Q345*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	386						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	p.Q386*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATACTGTTGGACAAGCTTC	0.562000													26	47					0	0	0.003954	0	0
DARC	2532	broad.mit.edu	37	1	159176052	159176052	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:159176052A>T	ENST00000537147.1	+	3	1666	c.823A>T	c.(823-825)Aca>Tca	p.T275S	DARC_ENST00000368121.2_Missense_Mutation_p.T277S|DARC_ENST00000368122.2_Missense_Mutation_p.T275S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	275					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.T277S(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GCTGTTGTCAACATGTCTGGC	0.557000													68	446					0	0	0.003610	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260091	90260091	+	RNA	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:90260091C>A	ENST00000471857.1	+	0	375																											CCAGGGAAAGCCCCTGAGCTC	0.493000													53	111					1.46156e-29	2.56318e-29	0.003610	1	0
PRRC2C	23215	broad.mit.edu	37	1	171535858	171535858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:171535858G>T	ENST00000367742.3	+	22	6676	c.6434G>T	c.(6433-6435)aGc>aTc	p.S2145I	PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2143I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2143I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2145I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2143							protein C-terminus binding	p.S2145I(2)									GAGAAACCAAGCCCAGCTACA	0.423000													21	13					3.51602e-12	5.21302e-12	0.008871	1	0
FGD5	152273	broad.mit.edu	37	3	14861865	14861865	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:14861865C>T	ENST00000285046.5	+	1	1397	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	FGD5_ENST00000543601.1_Silent_p.P188P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	429					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P429P(1)|p.P188P(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCAACCCCTATGTGATGG	0.647000													18	44					0	0	0.006122	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521849	49521849	+	Silent	SNP	G	G	A	rs141499311	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:49521849G>A	ENST00000336023.5	-	4	1342	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CTGAAAACTCGCCTTCCTCCA	0.547000													11	122					0	0	0.001855	0	0
ACOX1	51	broad.mit.edu	37	17	73945907	73945907	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:73945907T>C	ENST00000537812.1	-	10	1904	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	ACOX1_ENST00000301608.4_Missense_Mutation_p.D457G|ACOX1_ENST00000293217.5_Missense_Mutation_p.D457G	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	457					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	p.D457G(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACTGGGCAGGTCGTTCAAATA	0.488000													31	120					0	0	0.004289	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964814	119964814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:119964814G>T	ENST00000543831.1	+	4	939	c.690G>T	c.(688-690)tgG>tgT	p.W230C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.W230C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	230					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.W230C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACGTGGCCTGGGCCCACATTC	0.517000													23	77					3.73808e-20	6.25231e-20	0.005443	1	0
EDC4	23644	broad.mit.edu	37	16	67918040	67918040	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:67918040A>T	ENST00000358933.5	+	29	4434	c.4195A>T	c.(4195-4197)Agc>Tgc	p.S1399C	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1399					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.S1399C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CGTGACCCCCAGCCTCCCTTA	0.622000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	0.008291	0	0
CLDN14	23562	broad.mit.edu	37	21	37833634	37833634	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr21:37833634G>T	ENST00000399137.1	-	3	1226	c.360C>A	c.(358-360)ctC>ctA	p.L120L	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Silent_p.L120L|CLDN14_ENST00000399136.1_Silent_p.L120L|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Silent_p.L120L|CLDN14_ENST00000399139.1_Silent_p.L120L	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	120					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L120L(1)		endometrium(1)|lung(5)|skin(1)	7						GGGTGCCGCCGAGGATGGCAA	0.662000													27	112					9.65021e-13	1.44907e-12	0.002096	1	0
PLAGL2	5326	broad.mit.edu	37	20	30785235	30785235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr20:30785235G>T	ENST00000246229.4	-	3	775	c.511C>A	c.(511-513)Ctg>Atg	p.L171M		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L171M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTCTAGCAGGGCCTGGGTA	0.627000													8	43					2.17888e-05	2.65993e-05	0.006214	1	0
FLT4	2324	broad.mit.edu	37	5	180052973	180052973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:180052973G>T	ENST00000261937.6	-	10	1395	c.1317C>A	c.(1315-1317)agC>agA	p.S439R	FLT4_ENST00000502649.1_Missense_Mutation_p.S439R|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.S439R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	439	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.S439R(2)|p.S249R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCCTGGCGGCTGTGACGCG	0.657000													53	67					1.39924e-13	2.14916e-13	0.003610	1	0
PIWIL1	9271	broad.mit.edu	37	12	130839197	130839197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:130839197G>T	ENST00000245255.3	+	10	1432	c.1160G>T	c.(1159-1161)tGc>tTc	p.C387F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	387	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.C387F(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCTGAGCTCTGCTATCTTACA	0.532000													48	62					1.51926e-22	2.56853e-22	0.003610	1	0
MARS2	92935	broad.mit.edu	37	2	198571774	198571774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:198571774G>T	ENST00000282276.6	+	1	1688	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	549					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G549*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GAGGAGTCTTGGAGAGCTCTA	0.527000													73	172					5.43229e-20	9.02183e-20	0.003610	1	0
ITGAX	3687	broad.mit.edu	37	16	31374029	31374029	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr16:31374029G>C	ENST00000268296.4	+	12	1435	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q438H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	438					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Q438H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTTCACCCAGGTGTCCAGGC	0.657000													23	37					0	0	0.002299	0	0
CCDC129	223075	broad.mit.edu	37	7	31617846	31617846	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:31617846A>G	ENST00000409210.1	+	6	876	c.692A>G	c.(691-693)gAt>gGt	p.D231G	CCDC129_ENST00000451887.2_Missense_Mutation_p.D349G|CCDC129_ENST00000407970.3_Missense_Mutation_p.D323G|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	323								p.D323G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGTGATGATTTGCTACCT	0.507000													16	46					0	0	0.003163	0	0
VSIG4	11326	broad.mit.edu	37	X	65242213	65242213	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:65242213T>C	ENST00000374737.4	-	8	1200	c.1092A>G	c.(1090-1092)ggA>ggG	p.G364G	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.G270G	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	364					complement activation, alternative pathway	integral to membrane	protein binding	p.G364G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTACTCCTGTCCTATGCAGG	0.537000													18	40					0	0	0.006122	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:4550923A>T	ENST00000586582.1	-	11	1319	c.1009T>A	c.(1009-1011)Tgc>Agc	p.C337S	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337S|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627000													12	62					0	0	0.001368	0	0
BTAF1	9044	broad.mit.edu	37	10	93773549	93773549	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr10:93773549T>A	ENST00000265990.6	+	31	4745	c.4437T>A	c.(4435-4437)agT>agA	p.S1479R	BTAF1_ENST00000544642.1_Missense_Mutation_p.S307R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1479					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.S1479R(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGCTCCAGTCGAGAGCAAG	0.363000													13	67					0	0	0.001368	0	0
C4BPA	722	broad.mit.edu	37	1	207297525	207297525	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:207297525A>T	ENST00000367070.3	+	6	714	c.520A>T	c.(520-522)Aag>Tag	p.K174*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	174	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.K174*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTCAGTTGTCAAGTGTAAGCC	0.438000													23	134					0	0	0.002780	0	0
EPC2	26122	broad.mit.edu	37	2	149542324	149542324	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:149542324A>T	ENST00000258484.6	+	13	2139	c.2105A>T	c.(2104-2106)cAc>cTc	p.H702L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	702					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.H702L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACAGTTGGCCACACCACTACA	0.443000													23	59					0	0	0.003330	0	0
RYR1	6261	broad.mit.edu	37	19	38996576	38996576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:38996576A>T	ENST00000355481.4	+	54	8662	c.8531A>T	c.(8530-8532)cAa>cTa	p.Q2844L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q2844L|RYR1_ENST00000359596.3_Missense_Mutation_p.Q2844L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2844	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q2844L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGATATCACAAAGTGCCCAG	0.592000													22	46					0	0	0.001882	0	0
PLIN2	123	broad.mit.edu	37	9	19119764	19119764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr9:19119764C>A	ENST00000276914.2	-	6	840	c.661G>T	c.(661-663)Gga>Tga	p.G221*	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	221					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.G221*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GACAGGGATCCCAGTCTAACA	0.413000													65	165					1.98135e-44	3.68077e-44	0.003610	1	0
UGT2A1	10941	broad.mit.edu	37	4	70455270	70455270	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr4:70455270G>T	ENST00000503640.1	-	6	1459	c.1404C>A	c.(1402-1404)caC>caA	p.H468Q	UGT2A2_ENST00000457664.2_Missense_Mutation_p.H477Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.H468Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.H424Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.H634Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	468					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGCTCCTTTGTGGCGCATGA	0.488000													20	117					1.64113e-05	2.00868e-05	0.001523	1	0
TTN	7273	broad.mit.edu	37	2	179424886	179424886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr2:179424886G>C	ENST00000589042.1	-	326	86197	c.85973C>G	c.(85972-85974)cCc>cGc	p.P28658R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27017R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19785R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19593R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26090R|TTN_ENST00000359218.5_Missense_Mutation_p.P19718R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27017	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26090R(1)|p.P19785R(1)|p.P19718R(1)|p.P19593R(1)|p.P26088R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAATTTTGGGTTTGGATGG	0.453000													23	65					0	0	0.002299	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183029	147183029	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:147183029G>T	ENST00000361727.3	+	11	2189	c.1673G>T	c.(1672-1674)tGt>tTt	p.C558F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	558	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C558F(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTGACAGATGTGTGCCCAAT	0.453000										HNSCC(39;0.1)			40	78					4.74526e-06	5.94739e-06	0.006230	1	0
C6orf58	352999	broad.mit.edu	37	6	127898618	127898618	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr6:127898618G>T	ENST00000329722.7	+	1	300	c.288G>T	c.(286-288)tgG>tgT	p.W96C	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	96						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGTATGGCTGGCAATATAGGA	0.363000													12	60					0.000308642	0.000359955	0.003163	1	0
CYP4F8	11283	broad.mit.edu	37	19	15740149	15740149	+	RNA	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:15740149G>T	ENST00000441682.2	+	0	1605							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.R514L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTTGGCTGCGAGTAGAACCC	0.587000													8	13					0.00448238	0.00500408	0.004482	1	0
OR4E2	26686	broad.mit.edu	37	14	22133769	22133769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr14:22133769G>T	ENST00000408935.1	+	1	473	c.473G>T	c.(472-474)gGg>gTg	p.G158V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCACTAGGGCAGACCTTC	0.483000													29	139					0.000227799	0.000268335	0.008361	1	0
NR5A2	2494	broad.mit.edu	37	1	200089966	200089966	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:200089966G>A	ENST00000367362.3	+	7	1507	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NR5A2_ENST00000544748.1_Missense_Mutation_p.G349R|NR5A2_ENST00000236914.3_Missense_Mutation_p.G375R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	421	Lipid binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCACAAGCCGGAGCCACCCT	0.418000													6	117					0	0	0.001168	0	0
ABCA9	10350	broad.mit.edu	37	17	67013932	67013932	+	Splice_Site	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:67013932T>C	ENST00000340001.4	-	21	2979		c.e21-2		ABCA9_ENST00000453985.2_Splice_Site|ABCA9_ENST00000370732.2_Splice_Site|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9						transport	integral to membrane	ATP binding|ATPase activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGTTGACCCTACATGAAGGC	0.343000													58	308					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													25	95					0	0	0.007291	0	0
CARD11	84433	broad.mit.edu	37	7	2962898	2962898	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:2962898C>G	ENST00000396946.4	-	16	2413	c.2010G>C	c.(2008-2010)acG>acC	p.T670T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	670	PDZ.		T -> M (in dbSNP:rs3735134).		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T663T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCCATTCAGCGTCGTGTGCT	0.657000			Mis		DLBCL								17	109					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179606461	179606461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:179606461C>A	ENST00000589042.1	-	48	11723	c.11499G>T	c.(11497-11499)atG>atT	p.M3833I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.M3662I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M3516I|TTN_ENST00000359218.5_Missense_Mutation_p.M3595I|TTN_ENST00000460472.2_Missense_Mutation_p.M3470I|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3516							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M3595I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACATCCCCCATGCTTATAT	0.413000													12	42					1.3612e-06	1.7089e-06	0.003163	1	0
RAB40A	142684	broad.mit.edu	37	X	102755239	102755239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:102755239C>T	ENST00000372633.1	-	1	2564	c.446G>A	c.(445-447)gGt>gAt	p.G149D	RAB40A_ENST00000304236.1_Missense_Mutation_p.G149D|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GAAGGTCACACCCAGGCGCTC	0.582000													5	88					0	0	0.000602	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:124887093C>T	ENST00000356219.3	-	15	1652	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000													3	4					0	0	0.000248	0	0
DUOX2	50506	broad.mit.edu	37	15	45394000	45394000	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:45394000C>A	ENST00000389039.6	-	21	3227	c.2842G>T	c.(2842-2844)Ggt>Tgt	p.G948C	DUOX2_ENST00000603300.1_Missense_Mutation_p.G948C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	948					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.G948C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCATTTCCACCTCCACCTCCA	0.567000													10	41					0.000978159	0.00111583	0.000978	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5303444	5303444	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:5303444C>A	ENST00000274181.7	+	19	2991	c.2853C>A	c.(2851-2853)ccC>ccA	p.P951P		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	951	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P951P(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAGCCGCCCCGTGCAGTGCA	0.682000													9	11					1.05317e-09	1.43107e-09	0.002450	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													10	78					0	0	0.003163	0	0
C1orf51	148523	broad.mit.edu	37	1	150255696	150255696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:150255696G>T	ENST00000290363.5	+	1	468	c.19G>T	c.(19-21)Gtt>Ttt	p.V7F	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.V7F|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	7	Ser-rich.							p.V7F(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCATCTAGCGTTTCTTCCTA	0.517000													35	258					4.4194e-11	6.30174e-11	0.002836	1	0
MOK	5891	broad.mit.edu	37	14	102717219	102717219	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:102717219G>A	ENST00000361847.2	-	7	751	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	MOK_ENST00000524214.1_Missense_Mutation_p.L144F|MOK_ENST00000522874.1_Missense_Mutation_p.L173F|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	174	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.L174F(1)									CCATCAGTGAGGAGACACTCC	0.592000													22	75					0	0	0.003330	0	0
STAM	8027	broad.mit.edu	37	10	17737220	17737220	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:17737220T>G	ENST00000377524.3	+	7	923	c.708T>G	c.(706-708)atT>atG	p.I236M	STAM_ENST00000540523.1_Missense_Mutation_p.I125M	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	236	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.I236M(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGGAGAAATTATTACAGTTC	0.333000													13	33					0	0	0.001855	0	0
ZNF285	26974	broad.mit.edu	37	19	44891556	44891556	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:44891556C>G	ENST00000330997.4	-	4	915	c.851G>C	c.(850-852)gGc>gCc	p.G284A	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.G291A|ZNF285_ENST00000544719.2_Missense_Mutation_p.G284A	NM_152354.3	NP_689567.3			zinc finger protein 285									p.G284A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGGAGTCTTGCCAGAGTGAGT	0.433000													34	142					0	0	0.003271	0	0
POTEF	728378	broad.mit.edu	37	2	130877630	130877630	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:130877630G>T	ENST00000357462.5	-	1	552	c.459C>A	c.(457-459)ccC>ccA	p.P153P	POTEF_ENST00000361163.4_Silent_p.P153P|POTEF_ENST00000409914.2_Silent_p.P153P|POTEF_ENST00000360967.5_Silent_p.P153P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	153						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATCCTTTCTGGGGACTTTAC	0.582000													11	110					6.94344e-10	9.49074e-10	0.006122	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004904	55004904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:55004904G>T	ENST00000216420.7	+	6	934	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	268					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.E268*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TGAGCCATCGGAAGAGAACAG	0.448000													14	59					0.000566183	0.000652311	0.004990	1	0
RGL1	23179	broad.mit.edu	37	1	183775522	183775522	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:183775522A>T	ENST00000304685.3	+	3	607	c.146A>T	c.(145-147)gAc>gTc	p.D49V	RGL1_ENST00000539189.1_Missense_Mutation_p.D14V|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Missense_Mutation_p.D49V|RGL1_ENST00000360851.3_Missense_Mutation_p.D14V	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	14					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCGATTCAGGACTGGGGTGAA	0.483000													19	191					0	0	0.008871	0	0
NTRK3	4916	broad.mit.edu	37	15	88476321	88476321	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:88476321T>A	ENST00000394480.1	-	16	2132	c.1811A>T	c.(1810-1812)tAt>tTt	p.Y604F	NTRK3_ENST00000360948.2_Missense_Mutation_p.Y604F|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y596F|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y596F|NTRK3_ENST00000542733.2_Missense_Mutation_p.Y506F|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y604F|NTRK3_ENST00000558676.1_Missense_Mutation_p.Y596F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	604	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y604F(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCACACTCCATAGAACTTGAC	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	47					0	0	0.004482	0	0
DNM3	26052	broad.mit.edu	37	1	171810840	171810840	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:171810840G>A	ENST00000358155.4	+	1	220	c.44G>A	c.(43-45)cGt>cAt	p.R15H	DNM3_ENST00000520906.1_Missense_Mutation_p.R15H|DNM3_ENST00000355305.5_Missense_Mutation_p.R15H|DNM3_ENST00000367731.1_Missense_Mutation_p.R15H|DNM3_ENST00000367733.2_Missense_Mutation_p.R15H	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	15					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTGGTGAACCGTCTGCAGGAC	0.692000													4	27					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158645963	158645963	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:158645963G>T	ENST00000368148.3	-	8	1260	c.1080C>A	c.(1078-1080)acC>acA	p.T360T	SPTA1_ENST00000368147.3_Silent_p.T360T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	360					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T360T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATATCTGCTGGTGGCCAGGG	0.488000													138	93					2.24341e-30	3.91115e-30	0.003610	1	0
DMD	1756	broad.mit.edu	37	X	32663083	32663083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:32663083C>A	ENST00000357033.4	-	10	1353	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E375*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E379*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	383					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E378*(1)|p.E383*(1)|p.E379*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGTTTACCTCATGAGTATGA	0.353000													24	55					2.21704e-12	3.23114e-12	0.002780	1	0
CA3	761	broad.mit.edu	37	8	86352059	86352059	+	Silent	SNP	T	T	C	rs141354884		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:86352059T>C	ENST00000285381.2	+	2	236	c.153T>C	c.(151-153)taT>taC	p.Y51Y		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	51					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.Y51Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGTGTCTTATGATGGTGGCT	0.463000													15	71					0	0	0.002450	0	0
ENPP1	5167	broad.mit.edu	37	6	132211484	132211484	+	Missense_Mutation	SNP	G	G	T	rs146868608		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:132211484G>T	ENST00000360971.2	+	25	2631	c.2611G>T	c.(2611-2613)Ggg>Tgg	p.G871W		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTCCTAGCATGGGAAGCATGA	0.398000													17	52					5.3912e-06	6.60673e-06	0.006122	1	0
GPR85	54329	broad.mit.edu	37	7	112723734	112723734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:112723734C>A	ENST00000501255.2	-	3	1666	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	GPR85_ENST00000297146.2_Missense_Mutation_p.R348L|GPR85_ENST00000449591.1_Missense_Mutation_p.R348L|GPR85_ENST00000424100.1_Missense_Mutation_p.R348L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	348						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R348L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTGAAACAGCGCCTCAGCTC	0.453000													30	62					3.65163e-15	5.58627e-15	0.006320	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	9					4.93089e-13	7.30151e-13	0.002450	1	0
LILRA6	79168	broad.mit.edu	37	19	54745979	54745979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:54745979G>T	ENST00000440558.2	-	3	326	c.278C>A	c.(277-279)gCa>gAa	p.A93E	LILRB3_ENST00000407860.2_Missense_Mutation_p.A93E|LILRA6_ENST00000419410.2_Missense_Mutation_p.A93E|LILRA6_ENST00000391735.3_Missense_Mutation_p.A93E|LILRA6_ENST00000245621.5_Missense_Mutation_p.A93E|LILRA6_ENST00000270464.5_Missense_Mutation_p.A93E|LILRA6_ENST00000396365.2_Missense_Mutation_p.A93E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.A93E(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTATCTCCCTGCATGGTGCTG	0.572000													31	244					7.16026e-08	9.37122e-08	0.002445	1	0
UMODL1	89766	broad.mit.edu	37	21	43504227	43504227	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:43504227C>A	ENST00000400427.1	+	3	533	c.137C>A	c.(136-138)cCt>cAt	p.P46H	UMODL1_ENST00000400424.1_Missense_Mutation_p.P46H|UMODL1_ENST00000408989.2_Missense_Mutation_p.P118H|UMODL1_ENST00000408910.2_Missense_Mutation_p.P118H	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	118	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.P118H(1)|p.P46H(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGTCAAGACCTGGGGCCTGC	0.572000													86	205					3.24273e-39	5.85212e-39	0.003610	1	0
CRISP1	167	broad.mit.edu	37	6	49808671	49808671	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:49808671A>G	ENST00000335847.4	-	6	574	c.473T>C	c.(472-474)aTt>aCt	p.I158T	CRISP1_ENST00000329411.5_Missense_Mutation_p.I158T|CRISP1_ENST00000505118.1_Missense_Mutation_p.I158T|CRISP1_ENST00000355791.2_Missense_Mutation_p.I158T|CRISP1_ENST00000507853.1_Missense_Mutation_p.I158T|CRISP1_ENST00000536021.1_Missense_Mutation_p.I158T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	158					fusion of sperm to egg plasma membrane	extracellular space		p.I158T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GCAAGATGCAATGGCACAGCC	0.338000													8	29					0	0	0.006214	0	0
ISL1	3670	broad.mit.edu	37	5	50689434	50689434	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:50689434T>C	ENST00000230658.7	+	6	1625	c.1040T>C	c.(1039-1041)aTt>aCt	p.I347T	ISL1_ENST00000511384.1_Missense_Mutation_p.I324T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	347	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCCAGTCCTATTGAGGCATGA	0.418000													8	68					0	0	0.000978	0	0
GRIK4	2900	broad.mit.edu	37	11	120769268	120769268	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:120769268C>A	ENST00000527524.2	+	12	1479	c.1192C>A	c.(1192-1194)Ctc>Atc	p.L398I	GRIK4_ENST00000438375.2_Missense_Mutation_p.L398I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	398					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCAGAGGGCCTCAGCATGGA	0.597000													8	32					4.68919e-08	6.1721e-08	0.008291	1	0
FAR2P1	440905	broad.mit.edu	37	2	130792788	130792788	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:130792788C>T	ENST00000325390.3	-	0	2540					NR_026758.1																						TTAAGTCTCCCACAGCCATTG	0.473000													4	24					0	0	0.000602	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817346	77817346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:77817346C>A	ENST00000334306.2	-	1	1656	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	553								p.E553*(1)									GCCTTAACCTCTGCAAGTTTT	0.607000													17	54					5.35267e-07	6.81248e-07	0.007413	1	0
MUC17	140453	broad.mit.edu	37	7	100674963	100674963	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:100674963C>A	ENST00000306151.4	+	3	330	c.266C>A	c.(265-267)cCt>cAt	p.P89H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	89	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCAACCCTGAGATGACC	0.468000													11	75					5.50884e-06	6.73302e-06	0.001368	1	0
OR4E2	26686	broad.mit.edu	37	14	22133770	22133770	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:22133770G>T	ENST00000408935.1	+	1	474	c.474G>T	c.(472-474)ggG>ggT	p.G158G		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACTCACTAGGGCAGACCTTCT	0.478000													29	137					0.000227799	0.000266438	0.008361	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011564	105011564	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:105011564C>G	ENST00000372582.1	+	11	2727	c.1971C>G	c.(1969-1971)aaC>aaG	p.N657K	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.N262K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N657K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	657					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCTTAATAACACCCTGAAAG	0.448000													7	92					0	0	0.001984	0	0
ZNF496	84838	broad.mit.edu	37	1	247471885	247471885	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:247471885G>C	ENST00000294753.4	-	8	1362	c.898C>G	c.(898-900)Cca>Gca	p.P300A	ZNF496_ENST00000366498.2_Missense_Mutation_p.P336A|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	300					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P300A(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGACTTGGAGAGTCTTTC	0.517000													47	155					0	0	0.002522	0	0
GPR139	124274	broad.mit.edu	37	16	20043689	20043689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:20043689G>T	ENST00000570682.1	-	2	730	c.430C>A	c.(430-432)Cgc>Agc	p.R144S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	144						integral to membrane|plasma membrane		p.R144S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCCGGGTGCGGGCTGGGTAT	0.507000													47	108					1.12205e-10	1.57087e-10	0.003610	1	0
CDH8	1006	broad.mit.edu	37	16	61854900	61854900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:61854900C>A	ENST00000577390.1	-	6	1907	c.953G>T	c.(952-954)gGa>gTa	p.G318V	CDH8_ENST00000584337.1_Missense_Mutation_p.G318V|CDH8_ENST00000299345.6_Missense_Mutation_p.G318V|CDH8_ENST00000577730.1_Missense_Mutation_p.G318V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	318	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G318V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTTCCATCTCCATCGATGAT	0.428000													8	52					0.000274275	0.000319182	0.004482	1	0
LYAR	55646	broad.mit.edu	37	4	4275346	4275346	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:4275346C>A	ENST00000343470.4	-	8	1123	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	LYAR_ENST00000452476.1_Missense_Mutation_p.G295C	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	295	Lys-rich.					nucleolus	metal ion binding|protein binding	p.G295C(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTCTCCGCCCTCAGGATGC	0.453000													18	106					5.03518e-11	7.13575e-11	0.007413	1	0
FAM214A	56204	broad.mit.edu	37	15	52902417	52902417	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:52902417T>C	ENST00000261844.7	-	6	846	c.694A>G	c.(694-696)Aat>Gat	p.N232D	FAM214A_ENST00000546305.2_Missense_Mutation_p.N239D	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	232								p.N232D(1)									AGGCCAATATTAGTGTGAATA	0.378000													14	65					0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71348764	71348764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:71348764C>A	ENST00000392650.3	-	41	5606	c.5606G>T	c.(5605-5607)tGg>tTg	p.W1869L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.W1850L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1869	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGATGTCCCATAGTCCCTC	0.602000													6	87					0.000157383	0.000185015	0.003080	1	0
DGKI	9162	broad.mit.edu	37	7	137170141	137170141	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:137170141G>C	ENST00000453654.1	-	24	2045	c.1506C>G	c.(1504-1506)ggC>ggG	p.G502G	DGKI_ENST00000288490.5_Silent_p.G802G|DGKI_ENST00000446122.1_Silent_p.G784G|DGKI_ENST00000424189.2_Silent_p.G805G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	802	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G802G(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTCTGGGAGCCAGAAGAAA	0.358000													3	13					0	0	0.000248	0	0
GALNT9	50614	broad.mit.edu	37	12	132682499	132682499	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:132682499C>A	ENST00000328957.8	-	10	1502	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	GALNT9_ENST00000397325.2_Silent_p.V135V|GALNT9_ENST00000541995.1_Silent_p.V135V|GALNT9_ENST00000535228.1_Silent_p.V252V	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	501	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V501V(1)|p.V135V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGCTGTACCGCACCAGCTGGG	0.657000													17	16					1.96292e-10	2.69902e-10	0.001523	1	0
SSTR2	6752	broad.mit.edu	37	17	71165565	71165565	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:71165565C>T	ENST00000357585.2	+	2	476	c.107C>T	c.(106-108)cCg>cTg	p.P36L	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.P36L	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	36					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGACAGAGCCGTACTATGAC	0.473000													11	121					0	0	0.000978	0	0
LTBP1	4052	broad.mit.edu	37	2	33590570	33590570	+	Splice_Site	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:33590570G>A	ENST00000404816.2	+	31	5064	c.4711_splice	c.e31+1	p.D1571_splice	LTBP1_ENST00000272273.5_Splice_Site_p.D469_splice|LTBP1_ENST00000407925.1_Splice_Site_p.D1245_splice|LTBP1_ENST00000354476.3_Splice_Site_p.D1572_splice|LTBP1_ENST00000418533.2_Splice_Site_p.D1203_splice|LTBP1_ENST00000404525.1_Splice_Site_p.D1192_splice|LTBP1_ENST00000402934.1_Splice_Site_p.D1190_splice|LTBP1_ENST00000390003.4_Splice_Site_p.D1246_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1571	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.D1572N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGGATTCAGGTGAGCCCAT	0.542000													25	98					0	0	0.003954	0	0
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:79384709G>A	ENST00000393878.1	-	4	703	c.449C>T	c.(448-450)tCg>tTg	p.S150L	REG3A_ENST00000409839.3_Missense_Mutation_p.S150L|REG3A_ENST00000305165.2_Missense_Mutation_p.S150L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S150L(2)|p.S150W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGTGCTTCTCGACAGGCTCGC	0.527000													73	62					0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408000													21	106					0	0	0.001523	0	0
SEMA4B	10509	broad.mit.edu	37	15	90770876	90770876	+	Splice_Site	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:90770876T>C	ENST00000411539.2	+	13	2034		c.e13+2		SEMA4B_ENST00000332496.6_Splice_Site|SEMA4B_ENST00000379122.3_Silent_p.G587G	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TACCAACAGGTGAGGTGCCCC	0.587000													7	26					0	0	0.001984	0	0
ZC3H18	124245	broad.mit.edu	37	16	88644074	88644074	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:88644074G>A	ENST00000301011.5	+	2	743	c.543G>A	c.(541-543)gaG>gaA	p.E181E	ZC3H18_ENST00000452588.2_Silent_p.E181E	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	181						nucleus	nucleic acid binding|zinc ion binding	p.E181E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AATCCCTGGAGGCTGCCAAGG	0.557000													8	38					0	0	0.003080	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067474	17067474	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:17067474C>T	ENST00000262096.8	+	9	1459	c.764C>T	c.(763-765)aCa>aTa	p.T255I		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	255						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CGACATGGAACAGATAAGAAT	0.353000													4	13					0	0	0.000248	0	0
KIAA1109	84162	broad.mit.edu	37	4	123179859	123179859	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:123179859C>T	ENST00000264501.4	+	42	6996	c.6623C>T	c.(6622-6624)aCa>aTa	p.T2208I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T2208I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T2208I			Q2LD37	K1109_HUMAN	KIAA1109	2208					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.T2208I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTCAGCCACAGTCAGTGAA	0.403000													12	62					0	0	0.000978	0	0
MME	4311	broad.mit.edu	37	3	154884756	154884756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:154884756G>T	ENST00000460393.1	+	18	1846	c.1726G>T	c.(1726-1728)Ggg>Tgg	p.G576W	MME_ENST00000462745.1_Missense_Mutation_p.G576W|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.G576W|MME_ENST00000360490.2_Missense_Mutation_p.G576W|MME_ENST00000493237.1_Missense_Mutation_p.G576W	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	576					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.G576W(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTGAACTATGGGGGCATCGG	0.473000													29	66					2.47511e-08	3.28592e-08	0.008361	1	0
PTK2B	2185	broad.mit.edu	37	8	27277505	27277505	+	Missense_Mutation	SNP	G	G	T	rs140538134	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:27277505G>T	ENST00000397501.1	+	8	1106	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	PTK2B_ENST00000420218.2_Missense_Mutation_p.D100Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100Y|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100Y|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100Y	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	100	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.D100Y(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATGAAGTCCGATGAGATCCA	0.587000													18	21					1.01871e-10	1.43053e-10	0.008871	1	0
C8B	732	broad.mit.edu	37	1	57406675	57406675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:57406675C>A	ENST00000543257.1	-	10	1655	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	C8B_ENST00000371237.4_Missense_Mutation_p.K415N|C8B_ENST00000535057.1_Missense_Mutation_p.K353N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.K415N(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGTGTCCCTCTTGTTTCTGT	0.552000													14	34					1.52009e-12	2.22947e-12	0.003163	1	0
ESPNP	284729	broad.mit.edu	37	1	17023182	17023182	+	RNA	SNP	C	C	G	rs614461	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:17023182C>G	ENST00000492551.1	-	0	1681					NR_026567.1																						CGGCAGCGGCCAATCGGGCTG	0.692000													3	17					0	0	0.001168	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891129	45891129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:45891129C>A	ENST00000007414.3	-	15	1614	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A475S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	475					lipid transport		lipid binding	p.A475S(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTCACGTCAGCCCCAGGCCCG	0.657000													25	87					4.22769e-11	6.04704e-11	0.006320	1	0
KLF3	51274	broad.mit.edu	37	4	38690565	38690565	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:38690565G>T	ENST00000261438.5	+	3	722	c.417G>T	c.(415-417)ccG>ccT	p.P139P	KLF3_ENST00000514033.1_Silent_p.P139P	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	139	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P139P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TACGGAGCCCGGGGATCCTGC	0.627000													39	58					3.21399e-22	5.3221e-22	0.004878	1	0
PI15	51050	broad.mit.edu	37	8	75756215	75756215	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:75756215G>T	ENST00000260113.2	+	3	452		c.e3-1		RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular region	peptidase inhibitor activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCCTACAGGTTTGGGATG	0.393000													56	72					6.98806e-16	1.08703e-15	0.003610	1	0
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:130877801G>A	ENST00000357462.5	-	1	381	c.288C>T	c.(286-288)aaC>aaT	p.N96N	POTEF_ENST00000361163.4_Silent_p.N96N|POTEF_ENST00000409914.2_Silent_p.N96N|POTEF_ENST00000360967.5_Silent_p.N96N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96						cell cortex	ATP binding	p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612000													51	212					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82595113	82595113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:82595113G>C	ENST00000423517.2	-	4	4328	c.3991C>G	c.(3991-3993)Cag>Gag	p.Q1331E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1331E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q1331E(2)|p.Q1270E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTCCACCTGATCAGGTTTT	0.363000													16	67					0	0	0.008871	0	0
CORO1A	11151	broad.mit.edu	37	16	30198429	30198429	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:30198429T>C	ENST00000219150.5	+	5	826	c.521T>C	c.(520-522)gTg>gCg	p.V174A	CORO1A_ENST00000570045.1_Missense_Mutation_p.V174A|CORO1A_ENST00000565497.1_Missense_Mutation_p.V174A	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	174					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	p.V174A(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGCCCAGAGGTGCACCCAGAC	0.607000													14	83					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124377722	124377722	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:124377722G>T	ENST00000338354.3	+	38	4800	c.4694G>T	c.(4693-4695)gGc>gTc	p.G1565V	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1555V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1565V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1555V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G416V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G937V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G937V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1565	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G1565V(2)|p.G1694V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCAGTTTGGCCAGGGCTCA	0.597000													73	299					1.53134e-21	2.52671e-21	0.003610	1	0
LTBP2	4053	broad.mit.edu	37	14	74999213	74999213	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:74999213C>G	ENST00000261978.4	-	10	2289	c.1903G>C	c.(1903-1905)Gcg>Ccg	p.A635P	LTBP2_ENST00000556690.1_Missense_Mutation_p.A635P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	635	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.A635P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACACACTCCGCGTCCTTGCAC	0.627000													17	37					0	0	0.004007	0	0
CHAT	1103	broad.mit.edu	37	10	50856565	50856565	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:50856565C>A	ENST00000395562.2	+	10	1517	c.1048C>A	c.(1048-1050)Cga>Aga	p.R350R	CHAT_ENST00000339797.1_Silent_p.R314R|CHAT_ENST00000351556.3_Silent_p.R314R|CHAT_ENST00000455728.2_Silent_p.R314R|CHAT_ENST00000395559.2_Silent_p.R314R|CHAT_ENST00000337653.2_Silent_p.R432R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	432					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTGGTGGGCCGAGACGGCAC	0.602000													5	31					0.000157383	0.000185015	0.003080	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443842	5443842	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:5443842C>A	ENST00000300778.4	+	1	502	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L138I(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTCCATCCTCACCAATGA	0.498000													80	83					9.0989e-53	1.66813e-52	0.003610	1	0
ABCC6	368	broad.mit.edu	37	16	16284195	16284195	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:16284195C>A	ENST00000205557.7	-	12	1490	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	487	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R487R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGAGCCGTGCCCGTGAGTCCT	0.572000													19	100					8.34094e-07	1.05287e-06	0.008871	1	0
CNGB3	54714	broad.mit.edu	37	8	87683215	87683215	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:87683215C>A	ENST00000320005.5	-	4	497	c.450G>T	c.(448-450)ttG>ttT	p.L150F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	150					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTCCCTCTACCAACTTTTTCT	0.502000													27	298					7.92952e-12	1.14482e-11	0.003954	1	0
CXorf40B	541578	broad.mit.edu	37	X	149100952	149100952	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:149100952G>T	ENST00000370406.3	-	5	1115	c.287C>A	c.(286-288)cCc>cAc	p.P96H	CXorf40B_ENST00000370404.1_Missense_Mutation_p.P96H|CXorf40B_ENST00000355203.2_Missense_Mutation_p.P96H|CXorf40B_ENST00000462691.1_Missense_Mutation_p.P96H			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	96								p.P96H(1)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGTCTTCGGGGCATTGCAA	0.483000													35	49					1.04594e-18	1.67206e-18	0.006230	1	0
PROM2	150696	broad.mit.edu	37	2	95941982	95941982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:95941982G>T	ENST00000317620.9	+	4	638	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	PROM2_ENST00000403131.2_Missense_Mutation_p.V169L|PROM2_ENST00000542147.1_Missense_Mutation_p.V169L|PROM2_ENST00000317668.4_Missense_Mutation_p.V169L|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	169						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.V169L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAGGATTGGTGTGGTCTGTGC	0.652000													61	69					1.74971e-23	2.92886e-23	0.003610	1	0
NLRP4	147945	broad.mit.edu	37	19	56370337	56370337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:56370337G>T	ENST00000301295.6	+	3	2000	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	NLRP4_ENST00000346986.5_Missense_Mutation_p.E526D|NLRP4_ENST00000587891.1_Missense_Mutation_p.E451D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	526							ATP binding	p.E526D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCCCAAGAGATAAAGCAGC	0.428000													14	78					7.93312e-07	1.00414e-06	0.002450	1	0
TIAM1	7074	broad.mit.edu	37	21	32638890	32638890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:32638890C>A	ENST00000286827.3	-	5	870	c.399G>T	c.(397-399)agG>agT	p.R133S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R133S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	133					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R133S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCCGTAAAGCCTGCTCTCCT	0.542000													33	64					2.29764e-31	4.03616e-31	0.003755	1	0
GPR142	350383	broad.mit.edu	37	17	72368677	72368677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:72368677G>T	ENST00000335666.4	+	4	1375	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	443						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.E443*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ATCACAGCCAGAGGGCATGGC	0.622000													35	122					4.64027e-19	7.46969e-19	0.003610	1	0
OR2J2	26707	broad.mit.edu	37	6	29142163	29142163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:29142163C>A	ENST00000377167.2	+	1	853	c.751C>A	c.(751-753)Ctc>Atc	p.L251I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	251					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						GGTTGTATCTCTCTTTTTCAT	0.463000													22	115					5.26018e-13	7.76422e-13	0.001882	1	0
HK3	3101	broad.mit.edu	37	5	176308331	176308331	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:176308331C>A	ENST00000292432.5	-	18	2690	c.2599G>T	c.(2599-2601)Gat>Tat	p.D867Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	867	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.D867Y(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTTCCATCCACCCCCACA	0.687000													46	147					4.01344e-20	6.57521e-20	0.003610	1	0
MSH4	4438	broad.mit.edu	37	1	76343982	76343982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:76343982G>T	ENST00000263187.3	+	11	1623	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	507					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.E507*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AACATACACAGAGATTGTAGA	0.358000								Mismatch excision repair (MMR)					8	45					5.18039e-06	6.36527e-06	0.003080	1	0
VANGL2	57216	broad.mit.edu	37	1	160390262	160390262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:160390262C>T	ENST00000368061.2	+	5	1336	c.862C>T	c.(862-864)Cct>Tct	p.P288S	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	288					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.P288S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTACAACCCTGCCCTCCT	0.602000													19	154					0	0	0.008871	0	0
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	T	rs144464842	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:20442600G>T	ENST00000331849.4	+	10	1412	c.1265G>T	c.(1264-1266)cGt>cTt	p.R422L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502000													23	165					2.98393e-07	3.87241e-07	0.002780	1	0
SLC38A1	81539	broad.mit.edu	37	12	46591784	46591784	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:46591784G>C	ENST00000398637.5	-	15	1876	c.1182C>G	c.(1180-1182)acC>acG	p.T394T	SLC38A1_ENST00000549049.1_Silent_p.T394T|SLC38A1_ENST00000546893.1_Silent_p.T394T|SLC38A1_ENST00000552197.1_Silent_p.T394T|SLC38A1_ENST00000439706.1_Silent_p.T394T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	394					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGTAACCACGGTATGACGAC	0.378000													7	46					0	0	0.003080	0	0
CCDC158	339965	broad.mit.edu	37	4	77234393	77234393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:77234393G>T	ENST00000388914.3	-	24	3424	c.3272C>A	c.(3271-3273)tCt>tAt	p.S1091Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1091								p.S1091Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATCATTGAAGACATTGCTGA	0.308000													5	13					0.000602214	0.00069038	0.000602	1	0
OR10A7	121364	broad.mit.edu	37	12	55615680	55615680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:55615680G>T	ENST00000326258.1	+	1	872	c.872G>T	c.(871-873)gGc>gTc	p.G291V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G291V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATCATCTACGGCCTGAGGAAC	0.448000													24	91					9.04412e-07	1.13852e-06	0.004656	1	0
TRAJ10	28745	broad.mit.edu	37	14	23002508	23002508	+	RNA	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:23002508A>T	ENST00000390527.1	+	0	64																											AGTGGAACTCAGTAAGTATGA	0.363000													17	90					0	0	0.004990	0	0
MKRN3	7681	broad.mit.edu	37	15	23811332	23811332	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:23811332C>A	ENST00000314520.3	+	1	879	c.403C>A	c.(403-405)Cct>Act	p.P135T	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	135						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P135T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGTTTCGCCGCCTGGGGCCTC	0.627000													27	61					2.4375e-19	3.95131e-19	0.007291	1	0
CYLC2	1539	broad.mit.edu	37	9	105767937	105767937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:105767937G>C	ENST00000374798.3	+	5	1094	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D342H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	342	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D342H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				tgaaaagaaggatgcaaagaa	0.368000													7	30					0	0	0.001984	0	0
ATM	472	broad.mit.edu	37	11	108186770	108186770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:108186770G>T	ENST00000278616.4	+	42	6513	c.6128G>T	c.(6127-6129)gGc>gTc	p.G2043V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2043V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2043	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2043V(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCAATGTGGGGCAAAGCCCTA	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	29					1.96292e-10	2.69902e-10	0.001523	1	0
ADCY8	114	broad.mit.edu	37	8	131848567	131848567	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:131848567G>A	ENST00000286355.5	-	12	4723	c.2631C>T	c.(2629-2631)taC>taT	p.Y877Y	ADCY8_ENST00000377928.3_Silent_p.Y746Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	877					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)			AGAGGCCTGCGTAGACGGTCT	0.542000										HNSCC(32;0.087)			9	96					0	0	0.004482	0	0
DCD	117159	broad.mit.edu	37	12	55039440	55039440	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:55039440C>T	ENST00000456047.2	-	3	338	c.149G>A	c.(148-150)gGg>gAg	p.G50E	DCD_ENST00000293371.6_Missense_Mutation_p.G50E			P81605	DCD_HUMAN	dermcidin	50					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.G50E(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCTGGCTAACCCTGGGTCTTC	0.483000													41	27					0	0	0.002852	0	0
CCDC87	55231	broad.mit.edu	37	11	66358704	66358704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:66358704C>A	ENST00000333861.3	-	1	1850	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	595								p.D595Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTAGTCATCCACAGACAAG	0.478000													195	44					3.91831e-126	7.32899e-126	0.003610	1	0
GRIP2	80852	broad.mit.edu	37	3	14538040	14538040	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:14538040C>T	ENST00000273083.3	-	0	2772							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding	p.R904K(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGGGCCACCCTCTGCACGGT	0.622000													12	31					0	0	0.001855	0	0
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:44932748G>A	ENST00000291187.4	-	6	2512	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G736G|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G736G(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488000													13	23					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216420340	216420340	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:216420340G>C	ENST00000366943.2	-	13	2782	c.2396C>G	c.(2395-2397)aCa>aGa	p.T799R	USH2A_ENST00000366942.3_Missense_Mutation_p.T799R|USH2A_ENST00000307340.3_Missense_Mutation_p.T799R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	799	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T799R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATCCAGCTGTGTCACAGTC	0.473000										HNSCC(13;0.011)			15	128					0	0	0.002450	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	RNA	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:16956761C>G	ENST00000412962.1	-	0	294																											CCTGGACCTGCCCTGGGGCAG	0.647000													3	22					0	0	0.004672	0	0
CCDC73	493860	broad.mit.edu	37	11	32635190	32635190	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:32635190C>A	ENST00000335185.5	-	16	2717	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	892								p.D892Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTTTTTTATCTGAAGTTGAA	0.403000													22	104					7.41877e-09	9.90599e-09	0.001882	1	0
OR2L13	284521	broad.mit.edu	37	1	248262794	248262794	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:248262794G>C	ENST00000366478.2	+	3	454	c.117G>C	c.(115-117)gtG>gtC	p.V39V	OR2L13_ENST00000358120.2_Silent_p.V39V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.V39V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCCTCGGTGGGTAACTCGG	0.463000													31	204					0	0	0.007291	0	0
FAT2	2196	broad.mit.edu	37	5	150897191	150897191	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:150897191A>T	ENST00000261800.5	-	19	11465	c.11453T>A	c.(11452-11454)gTc>gAc	p.V3818D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3818	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V3818D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGGGAGACGGACGCTGT	0.557000													23	55					0	0	0.003330	0	0
OR14C36	127066	broad.mit.edu	37	1	248512769	248512769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:248512769C>A	ENST00000317861.1	+	1	693	c.693C>A	c.(691-693)gaC>gaA	p.D231E		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	231			D -> Y (in dbSNP:rs28545014).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GAGGAGCAGACAGAACAAAGG	0.517000													12	132					2.80697e-09	3.78082e-09	0.000978	1	0
STAT5B	6777	broad.mit.edu	37	17	40371852	40371852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:40371852C>A	ENST00000293328.3	-	6	727	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	187					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCAGCGGGCCAAACTGAGCT	0.647000													10	84					0.000673444	0.000770127	0.008291	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76482785	76482785	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:76482785G>A	ENST00000307431.8	+	7	1246	c.861G>A	c.(859-861)gtG>gtA	p.V287V	CNTNAP4_ENST00000476707.1_Silent_p.V291V|CNTNAP4_ENST00000377504.4_Silent_p.V287V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.V263V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	288	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTTCACAGTGGACGAACACA	0.448000													4	12					0	0	0.000248	0	0
CTH	1491	broad.mit.edu	37	1	70877246	70877246	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:70877246G>T	ENST00000411986.2	+	1	346	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W	CTH_ENST00000370938.3_Missense_Mutation_p.G50W|CTH_ENST00000346806.2_Missense_Mutation_p.G50W|CTH_ENST00000464926.1_3'UTR	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	50					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTTCAAGCAAGGGGCGCCTGG	0.572000													23	63					3.6726e-16	5.73224e-16	0.003954	1	0
COL22A1	169044	broad.mit.edu	37	8	139833476	139833476	+	Missense_Mutation	SNP	G	G	T	rs141992049	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:139833476G>T	ENST00000303045.6	-	7	1594	c.1148C>A	c.(1147-1149)gCg>gAg	p.A383E	COL22A1_ENST00000435777.1_Missense_Mutation_p.A383E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A383E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGCACCAGCGCACAGTCAAT	0.572000										HNSCC(7;0.00092)			19	132					5.35267e-07	6.81248e-07	0.007413	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066212	40066212	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:40066212G>C	ENST00000336649.4	+	28	4382	c.4382G>C	c.(4381-4383)cGg>cCg	p.R1461P	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1420P|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1420P|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1455P|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1455P|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1420P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1455					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCGGCTGCGGCGCCTGGAG	0.657000													15	46					0	0	0.001882	0	0
MYCT1	80177	broad.mit.edu	37	6	153043128	153043128	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:153043128C>T	ENST00000367245.5	+	2	456	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	150						nucleus		p.L150L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACAAGCTTCCCTGGAACAAGC	0.502000													24	69					0	0	0.005443	0	0
PARD3	56288	broad.mit.edu	37	10	34400356	34400356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:34400356C>A	ENST00000374789.3	-	25	4137	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	PARD3_ENST00000545260.1_Missense_Mutation_p.G1181V|PARD3_ENST00000545693.1_Missense_Mutation_p.G1255V|PARD3_ENST00000346874.4_Missense_Mutation_p.G1234V|PARD3_ENST00000350537.4_Missense_Mutation_p.G1225V|PARD3_ENST00000374794.3_Missense_Mutation_p.G1159V|PARD3_ENST00000374788.3_Missense_Mutation_p.G1268V|PARD3_ENST00000374790.3_Missense_Mutation_p.G1211V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G1271V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCATGTCCTCCCAGGTAGCC	0.587000													20	67					1.64293e-13	2.4644e-13	0.003330	1	0
DNAH17	8632	broad.mit.edu	37	17	76548888	76548888	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:76548888C>A	ENST00000389840.5	-	15	2303		c.e15-1		DNAH17_ENST00000585328.1_Splice_Site					dynein, axonemal, heavy chain 17									p.?(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTCTTTATCTGAAAAACAG	0.373000													28	139					2.41591e-17	3.82243e-17	0.004656	1	0
EPHA5	2044	broad.mit.edu	37	4	66356315	66356315	+	Silent	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:66356315T>A	ENST00000273854.3	-	5	1782	c.1182A>T	c.(1180-1182)gcA>gcT	p.A394A	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.A394A|EPHA5_ENST00000511294.1_Silent_p.A394A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	394	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A394A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTTCTTGCATGCAATATAAT	0.488000										TSP Lung(17;0.13)			15	59					0	0	0.003163	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:47846657G>T	ENST00000339488.4	-	3	1956	c.1923C>A	c.(1921-1923)atC>atA	p.I641I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000													52	127					1.44317e-28	2.46942e-28	0.003610	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90499889	90499889	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:90499889G>C	ENST00000325643.5	+	4	553	c.487G>C	c.(487-489)Ggg>Cgg	p.G163R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.G163R(1)									AGACCCCCTGGGGGACGTGTG	0.637000													40	37					0	0	0.007835	0	0
MYO16	23026	broad.mit.edu	37	13	109535429	109535429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr13:109535429C>A	ENST00000356711.2	+	13	1508	c.1382C>A	c.(1381-1383)tCc>tAc	p.S461Y	MYO16_ENST00000251041.5_Missense_Mutation_p.S461Y|MYO16_ENST00000357550.2_Missense_Mutation_p.S461Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	461	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S461Y(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TATTTCAGCTCCTCAGGGAAG	0.542000													94	83					2.5963e-48	4.74108e-48	0.003610	1	0
CNGA2	1260	broad.mit.edu	37	X	150912466	150912466	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:150912466C>A	ENST00000329903.4	+	6	1524	c.1491C>A	c.(1489-1491)ggC>ggA	p.G497G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	497					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGGAGGGCAAACTGGCAG	0.507000													10	143					4.84862e-15	7.39294e-15	0.000978	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907355	12907355	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:12907355C>T	ENST00000317869.6	-	2	1013	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.G263E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGGTCATCCCCCTGATCTTC	0.498000													29	108					0	0	0.008361	0	0
KLK5	25818	broad.mit.edu	37	19	51453337	51453337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:51453337G>T	ENST00000336334.3	-	3	461	c.109C>A	c.(109-111)Cac>Aac	p.H37N	KLK5_ENST00000593428.1_Missense_Mutation_p.H37N|KLK5_ENST00000391809.2_Missense_Mutation_p.H37N	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	37				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGAGGGGTGGTCACAGGAA	0.627000													6	34					0.00448238	0.00501419	0.004482	1	0
PXDNL	137902	broad.mit.edu	37	8	52284445	52284445	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:52284445C>G	ENST00000356297.4	-	19	3989	c.3889G>C	c.(3889-3891)Gac>Cac	p.D1297H	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1297H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1297					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACAGCAGTCTTGCCACACT	0.458000													7	39					0	0	0.003080	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489533	47489533	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:47489533A>T	ENST00000371901.3	+	1	294	c.44A>T	c.(43-45)tAc>tTc	p.Y15F	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	15						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.Y15F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CGGCCCTTTTACCTGGCGTTC	0.697000													16	50					0	0	0.008871	0	0
ITGAD	3681	broad.mit.edu	37	16	31427913	31427913	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:31427913G>T	ENST00000389202.2	+	20	2494	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	815					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.V815V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACGGAACCGTGGTCAGCCTCT	0.622000													48	113					4.74273e-12	6.86878e-12	0.003610	1	0
SLC4A9	83697	broad.mit.edu	37	5	139751895	139751895	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:139751895G>A	ENST00000230993.6	+	20	2846	c.2811G>A	c.(2809-2811)ctG>ctA	p.L937L	CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Silent_p.L937L|SLC4A9_ENST00000506545.1_Silent_p.L850L|SLC4A9_ENST00000506757.2_Silent_p.L913L|SLC4A9_ENST00000432095.2_Silent_p.L899L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	937	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.L937L(2)|p.L911L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTGGCTGGATGAGCTGA	0.577000													16	36					0	0	0.004990	0	0
PARD3B	117583	broad.mit.edu	37	2	206037038	206037038	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:206037038C>G	ENST00000406610.2	+	12	1931	c.1724C>G	c.(1723-1725)tCc>tGc	p.S575C	PARD3B_ENST00000351153.1_Missense_Mutation_p.S575C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S575C|PARD3B_ENST00000349953.3_Missense_Mutation_p.S575C|PARD3B_ENST00000358768.2_Missense_Mutation_p.S513C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	575	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGTCAATGTCCATGGAGGGA	0.493000													8	44					0	0	0.004482	0	0
TEK	7010	broad.mit.edu	37	9	27209185	27209185	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:27209185A>G	ENST00000380036.4	+	16	3084	c.2642A>G	c.(2641-2643)cAc>cGc	p.H881R	TEK_ENST00000406359.4_Missense_Mutation_p.H838R|TEK_ENST00000519097.1_Missense_Mutation_p.H733R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	881	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AAACTTGGACACCATCCAAAC	0.403000													4	40					0	0	0.000602	0	0
PCDH12	51294	broad.mit.edu	37	5	141336580	141336580	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:141336580C>T	ENST00000231484.3	-	1	2047	c.837G>A	c.(835-837)gtG>gtA	p.V279V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	279	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding	p.V279V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAACTCCACCTCCCCAT	0.532000													47	118					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481424	140481424	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:140481424A>G	ENST00000231130.2	+	1	1191	c.1191A>G	c.(1189-1191)gtA>gtG	p.V397V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V397V(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)			AACCATCTGTAGAGAATTTTT	0.478000													26	95					0	0	0.004656	0	0
OR5A1	219982	broad.mit.edu	37	11	59211049	59211049	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:59211049C>A	ENST00000302030.2	+	1	433	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P136P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCTCTACCCCACTATCATGA	0.542000													112	148					8.38913e-67	1.55654e-66	0.003610	1	0
CLCA4	22802	broad.mit.edu	37	1	87036875	87036875	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:87036875T>A	ENST00000370563.3	+	8	1340	c.1298T>A	c.(1297-1299)gTt>gAt	p.V433D	CLCA4_ENST00000496322.1_3'UTR|CLCA4_ENST00000263723.5_Missense_Mutation_p.V146D|RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	433	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.V433D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGGCCATTGTTCATTTTATT	0.423000													47	84					0	0	0.003610	0	0
TRIP12	9320	broad.mit.edu	37	2	230744731	230744731	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:230744731C>G	ENST00000283943.5	-	2	243	c.65G>C	c.(64-66)gGg>gCg	p.G22A	TRIP12_ENST00000389044.4_Missense_Mutation_p.G22A|TRIP12_ENST00000389045.3_Missense_Mutation_p.G22A|TRIP12_ENST00000543084.1_Missense_Mutation_p.G22A|TRIP12_ENST00000409677.1_Missense_Mutation_p.G22A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	22					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.G22A(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGTTGGGCCCCGGCAGTGTT	0.453000													28	83					0	0	0.003271	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215482	134215482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:134215482G>T	ENST00000359579.4	+	2	474	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	52					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTATCAGAATGAACATGAAGT	0.488000													14	87					4.3838e-07	5.62588e-07	0.001855	1	0
SPTBN4	57731	broad.mit.edu	37	19	41078081	41078081	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:41078081G>A	ENST00000352632.3	+	34	7562	c.7476G>A	c.(7474-7476)aaG>aaA	p.K2492K	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.K1235K|SPTBN4_ENST00000598249.1_Silent_p.K2492K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2492	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.K2492K(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAAAAAGAAGCATGTCTTCA	0.617000													22	126					0	0	0.002299	0	0
FOCAD	54914	broad.mit.edu	37	9	20717802	20717802	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:20717802C>T	ENST00000380249.1	+	5	431	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	FOCAD_ENST00000338382.6_Missense_Mutation_p.H23Y	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	23						integral to membrane	binding	p.H23Y(1)									GGCTGTGGGTcatcttattgc	0.338000													15	15					0	0	0.006122	0	0
FAT4	79633	broad.mit.edu	37	4	126237791	126237791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:126237791C>A	ENST00000394329.3	+	1	238	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S75R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGCTCAGCGAAAGCCACG	0.637000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	51					4.63292e-17	7.30516e-17	0.008871	1	0
CHD8	57680	broad.mit.edu	37	14	21868347	21868347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:21868347C>A	ENST00000399982.2	-	23	4754	c.4690G>T	c.(4690-4692)Gaa>Taa	p.E1564*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1285*|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1564*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1564					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.E1564*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTATAACTTTCATCTTGGAAC	0.383000													16	89					1.5739e-10	2.1836e-10	0.004007	1	0
SLC10A3	8273	broad.mit.edu	37	X	153716544	153716544	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:153716544T>A	ENST00000263512.4	-	2	1234	c.736A>T	c.(736-738)Aag>Tag	p.K246*	SLC10A3_ENST00000369649.4_Nonsense_Mutation_p.K217*|SLC10A3_ENST00000393587.4_Nonsense_Mutation_p.K246*|SLC10A3_ENST00000393586.1_Nonsense_Mutation_p.K301*	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	246					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.K246*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGAAGACCTTGGCCATGAGG	0.632000													94	172					0	0	0.003610	0	0
MTM1	4534	broad.mit.edu	37	X	149832038	149832038	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:149832038T>C	ENST00000370396.2	+	14	1654	c.1600T>C	c.(1600-1602)Tgg>Cgg	p.W534R	MTM1_ENST00000543350.1_Missense_Mutation_p.W419R|MTM1_ENST00000413012.2_Missense_Mutation_p.W497R|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	534	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.W534R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGAACTCTGGGTGAATTA	0.358000													60	56					0	0	0.003610	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112025334	112025334	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:112025334T>C	ENST00000374566.3	-	6	1144	c.627A>G	c.(625-627)ctA>ctG	p.L209L	EPB41L4B_ENST00000374557.4_Silent_p.L209L	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	209	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.L209L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTACCTTGTAGACAGAGAG	0.323000													9	12					0	0	0.004482	0	0
SEPT6	23157	broad.mit.edu	37	X	118771036	118771036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:118771036C>A	ENST00000394610.1	-	7	1174	c.910G>T	c.(910-912)Gag>Tag	p.E304*	SEPT6_ENST00000394616.4_Nonsense_Mutation_p.E246*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.E304*|SEPT6_ENST00000394617.2_Nonsense_Mutation_p.E334*|SEPT6_ENST00000354416.3_Nonsense_Mutation_p.E304*|SEPT6_ENST00000360156.7_Nonsense_Mutation_p.E304*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.E304*|SEPT6_ENST00000343984.5_Nonsense_Mutation_p.E304*	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	304					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCCATCTCCTCCAGCTTACAG	0.612000			T	MLL	AML								9	73					5.4927e-09	7.37683e-09	0.004482	1	0
BCL9	607	broad.mit.edu	37	1	147091685	147091685	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:147091685G>T	ENST00000234739.3	+	8	2464	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557000			T	"""IGH@, IGL@"""	B-ALL								134	93					5.75948e-69	1.07294e-68	0.003610	1	0
DCLK2	166614	broad.mit.edu	37	4	151023955	151023955	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:151023955T>C	ENST00000296550.7	+	2	1501	c.747T>C	c.(745-747)gaT>gaC	p.D249D	DCLK2_ENST00000302176.8_Silent_p.D249D|DCLK2_ENST00000506325.1_Silent_p.D249D	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	249	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCACCCTGGATGGAAAGCAGG	0.433000													6	21					0	0	0.003080	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18826354	18826354	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:18826354G>C	ENST00000380548.4	+	22	4346	c.4007G>C	c.(4006-4008)gGc>gCc	p.G1336A	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G37A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G1336A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCACGAAGGCTCCTTGCTG	0.522000													9	36					0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	216420069	216420069	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:216420069C>T	ENST00000366943.2	-	13	3053	c.2667G>A	c.(2665-2667)ttG>ttA	p.L889L	USH2A_ENST00000366942.3_Silent_p.L889L|USH2A_ENST00000307340.3_Silent_p.L889L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	889	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L889F(1)|p.L889L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCAATGGTCAAATTGTACC	0.468000										HNSCC(13;0.011)			39	167					0	0	0.007835	0	0
MARCH11	441061	broad.mit.edu	37	5	16177941	16177941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:16177941T>A	ENST00000332432.8	-	2	786	c.587A>T	c.(586-588)cAt>cTt	p.H196L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	196						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.H196L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GCACAGCTGATGTGTATACCG	0.418000													25	44					0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158617426	158617426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:158617426G>T	ENST00000368148.3	-	27	3979	c.3799C>A	c.(3799-3801)Ctg>Atg	p.L1267M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1267M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1267					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1267M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTCATTCAGCTCCATTTTC	0.547000													20	145					5.35267e-07	6.81248e-07	0.007413	1	0
COL5A3	50509	broad.mit.edu	37	19	10116471	10116471	+	Splice_Site	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:10116471C>T	ENST00000264828.3	-	3	523		c.e3+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCATGCTCACCTGCCATCTG	0.697000													5	27					0	0	0.001168	0	0
NCAM2	4685	broad.mit.edu	37	21	22804584	22804584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:22804584G>T	ENST00000400546.1	+	12	1886	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	NCAM2_ENST00000284894.7_Missense_Mutation_p.R404L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	546	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R546L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAATTGTACGCTCCCATGGA	0.413000													16	32					2.23348e-06	2.76641e-06	0.004007	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260867	1260867	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:1260867G>T	ENST00000348261.5	+	21	4367	c.4119G>T	c.(4117-4119)ctG>ctT	p.L1373L	CACNA1H_ENST00000358590.4_Silent_p.L1373L|CACNA1H_ENST00000565831.1_Silent_p.L1373L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1373					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.L1373L(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGTGCTGGTGTCCCTGG	0.687000													12	78					7.07596e-05	8.40384e-05	0.006122	1	0
MORC1	27136	broad.mit.edu	37	3	108780903	108780903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:108780903C>A	ENST00000232603.5	-	11	980	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.E300*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	300					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E300*(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATATGGATTCAGCTGGAAGT	0.343000													33	51					1.99505e-19	3.24547e-19	0.002445	1	0
ADAM11	4185	broad.mit.edu	37	17	42854901	42854901	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:42854901G>T	ENST00000200557.6	+	22	2002	c.1833G>T	c.(1831-1833)cgG>cgT	p.R611R	ADAM11_ENST00000535346.1_Silent_p.R411R	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	611	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R611R(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAGCTCCTCGGCTAGGGGACC	0.582000													109	109					2.34315e-34	4.17968e-34	0.003610	1	0
SNAPC4	6621	broad.mit.edu	37	9	139276314	139276314	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:139276314G>A	ENST00000298532.2	-	17	2647	c.2279C>T	c.(2278-2280)aCa>aTa	p.T760I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	760					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.T760I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAAGCCTGTGTGCAGGGCAC	0.657000													29	30					0	0	0.004289	0	0
ADCY6	112	broad.mit.edu	37	12	49171215	49171215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:49171215G>A	ENST00000307885.4	-	4	1920	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A409V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A409V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	409					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	ATP binding|metal ion binding	p.A409F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTCAAACCGGGCAAAGAGCTC	0.592000													66	49					0	0	0.003610	0	0
CEP41	95681	broad.mit.edu	37	7	130044546	130044546	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:130044546T>G	ENST00000223208.4	-	6	551	c.281A>C	c.(280-282)aAt>aCt	p.N94T	CEP41_ENST00000541543.1_Missense_Mutation_p.N78T|CEP41_ENST00000343969.5_Missense_Mutation_p.N94T	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	94					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.N94T(1)									TGCAGAATCATTGTCTAATAT	0.393000													25	31					0	0	0.004656	0	0
GPR112	139378	broad.mit.edu	37	X	135428319	135428319	+	Silent	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:135428319A>C	ENST00000394143.1	+	6	2745	c.2454A>C	c.(2452-2454)gtA>gtC	p.V818V	GPR112_ENST00000412101.1_Silent_p.V613V|GPR112_ENST00000287534.4_Silent_p.V755V|GPR112_ENST00000370652.1_Silent_p.V818V|GPR112_ENST00000394141.1_Silent_p.V613V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	818					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V818V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGCAATTGTATTTGGAGGTA	0.373000													74	90					0	0	0.003610	0	0
RASAL2	9462	broad.mit.edu	37	1	178389684	178389684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:178389684G>T	ENST00000448150.3	+	5	1367	c.549G>T	c.(547-549)agG>agT	p.R183S	RASAL2_ENST00000367649.3_Missense_Mutation_p.R201S|RASAL2_ENST00000462775.1_Missense_Mutation_p.R53S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	53	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R53S(1)|p.R183S(1)|p.R183R(1)|p.R201R(1)|p.R201S(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCATCAAGAGGACCAAAAGCC	0.463000													16	21					2.94398e-08	3.89719e-08	0.007413	1	0
CASZ1	54897	broad.mit.edu	37	1	10702979	10702979	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:10702979C>G	ENST00000377022.3	-	20	4416	c.4099G>C	c.(4099-4101)Gag>Cag	p.E1367Q	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.E1367Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGATGACTCAGAGGACATG	0.672000													16	27					0	0	0.003163	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251899	26251899	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:26251899C>T	ENST00000356350.2	+	1	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	7					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CAGCTAAGTCCGCTCCCGCCC	0.522000													10	98					0	0	0.006214	0	0
HCN1	348980	broad.mit.edu	37	5	45262863	45262863	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:45262863A>G	ENST00000303230.4	-	8	1890	c.1833T>C	c.(1831-1833)acT>acC	p.T611T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	611						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.T611T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAAACACCAGTGTTCAGAT	0.408000													37	68					0	0	0.004289	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38579466	38579466	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:38579466A>G	ENST00000222345.6	+	4	2149	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	547					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.Y547C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTACCAGTACAGGATCATC	0.542000													17	75					0	0	0.007413	0	0
CSMD1	64478	broad.mit.edu	37	8	3245100	3245100	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:3245100C>T	ENST00000520002.1	-	19	3256	c.2701G>A	c.(2701-2703)Gac>Aac	p.D901N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D900N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D901N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D901N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D901N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D900N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D900N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	901	Sushi 5.					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)		TACCCCGGGTCACAGCTGAAA	0.607000													6	17					0	0	0.001168	0	0
SESN3	143686	broad.mit.edu	37	11	94911953	94911953	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:94911953C>T	ENST00000536441.1	-	7	1313	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R187Q	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	326					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTCAATATATCGAGAGACATC	0.368000													4	21					0	0	0.000248	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697105	17697105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:17697105C>A	ENST00000399080.2	-	1	2601	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	860								p.E860*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTATCTTTCTCTTCCTTTTCT	0.279000													6	16					0.00116845	0.00132634	0.001168	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18435041	18435041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:18435041C>A	ENST00000433979.1	+	2	142	c.26C>A	c.(25-27)cCa>cAa	p.P9Q	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P9Q|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P9Q|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P9Q|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	9					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.P9Q(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAACGGATCCAAATCCTAAT	0.358000													8	13					0.00448238	0.00501419	0.004482	1	0
PIK3R5	23533	broad.mit.edu	37	17	8784027	8784027	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:8784027C>T	ENST00000447110.1	-	19	2696	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A858T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A857T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	858					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCGGCCTGGGCCGGCAGGTCA	0.637000													7	22					0	0	0.001984	0	0
OXCT1	5019	broad.mit.edu	37	5	41739504	41739504	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:41739504C>G	ENST00000196371.5	-	16	1669	c.1509G>C	c.(1507-1509)ggG>ggC	p.G503G	OXCT1_ENST00000510634.1_Silent_p.G106G|OXCT1_ENST00000512084.1_Silent_p.G106G|OXCT1_ENST00000509987.1_Silent_p.G317G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	503					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CAAAATCACACCCAGTACTCT	0.423000													15	114					0	0	0.003163	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574229	140574229	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:140574229C>A	ENST00000239446.4	+	1	2288	c.2104C>A	c.(2104-2106)Ctc>Atc	p.L702I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L702I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCTTCGCTCTTCCTCCT	0.711000													38	145					4.85424e-44	8.79474e-44	0.003610	1	0
CABS1	85438	broad.mit.edu	37	4	71200918	71200918	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:71200918T>A	ENST00000273936.4	+	1	221	c.162T>A	c.(160-162)taT>taA	p.Y54*		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	54						flagellum	calcium ion binding	p.Y54*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAAATGAATATATGCTAGAAA	0.373000													20	79					0	0	0.008871	0	0
TMC1	117531	broad.mit.edu	37	9	75450879	75450879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:75450879G>T	ENST00000297784.5	+	24	2813	c.2273G>T	c.(2272-2274)gGt>gTt	p.G758V	TMC1_ENST00000340019.3_Missense_Mutation_p.G758V|TMC1_ENST00000396237.3_Missense_Mutation_p.G758V|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	758					sensory perception of sound	integral to membrane		p.G758V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAGCTGCTGGTCGCCAGTAA	0.403000													7	34					0.00198382	0.00224089	0.001984	1	0
ITPR2	3709	broad.mit.edu	37	12	26868353	26868353	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:26868353G>A	ENST00000381340.3	-	8	1150	c.734C>T	c.(733-735)gCg>gTg	p.A245V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	245	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTCTTGTTCCGCATGAAATAA	0.413000													10	118					0	0	0.008291	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575173	161575173	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:161575173C>A	ENST00000366906.5	-	3	452	c.332G>T	c.(331-333)aGg>aTg	p.R111M	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron			Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	173					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.?(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTCTGGTGCCTACATACAAA	0.582000													11	40					3.07112e-06	3.79373e-06	0.000978	1	0
CNBD1	168975	broad.mit.edu	37	8	88249177	88249177	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:88249177T>A	ENST00000518476.1	+	6	659	c.608T>A	c.(607-609)cTg>cAg	p.L203Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	203								p.L203Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATGTAATACTGAAAGGCCTA	0.353000													18	73					0	0	0.006122	0	0
RNF144B	255488	broad.mit.edu	37	6	18399923	18399923	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:18399923G>C	ENST00000259939.3	+	2	475	c.158G>C	c.(157-159)tGc>tCc	p.C53S	RNF144B_ENST00000486622.1_3'UTR|RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	53					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C53S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			TGCATCTTTTGCACAGCTGTG	0.458000													11	65					0	0	0.000978	0	0
HUS1	3364	broad.mit.edu	37	7	48007507	48007507	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:48007507T>A	ENST00000258774.5	-	7	679	c.656A>T	c.(655-657)cAt>cTt	p.H219L	HUS1_ENST00000432325.1_Missense_Mutation_p.H198L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	219					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	p.H219L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGTCCTCATGGGTGCTTTC	0.398000								Direct reversal of damage;Other conserved DNA damage response genes					32	47					0	0	0.002836	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595817	120595817	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:120595817C>A	ENST00000300648.6	-	26	2935	c.2923G>T	c.(2923-2925)Gcg>Tcg	p.A975S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	975					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.A975S(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGCTGGCGCGGACAAGGGC	0.582000													43	42					1.02687e-29	1.77682e-29	0.003214	1	0
MGAT5B	146664	broad.mit.edu	37	17	74936922	74936922	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:74936922A>G	ENST00000569840.2	+	15	2414	c.1840A>G	c.(1840-1842)Aga>Gga	p.R614G	MGAT5B_ENST00000428789.2_Missense_Mutation_p.R623G|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R612G	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	614						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCATTATGAGAACTCAGGT	0.542000													14	94					0	0	0.002450	0	0
MBL2	4153	broad.mit.edu	37	10	54528214	54528214	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:54528214C>T	ENST00000373968.3	-	4	494	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	144	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCATTATTTCACCATTGGTC	0.473000													20	135					0	0	0.007413	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698840	111698840	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:111698840C>A	ENST00000340433.2	+	1	1114	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	295							nucleic acid binding|zinc ion binding	p.A295D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTGCCTTGCCAAACGTTCT	0.512000													8	69					3.09899e-07	4.01045e-07	0.004482	1	0
OR5A1	219982	broad.mit.edu	37	11	59211048	59211048	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:59211048C>A	ENST00000302030.2	+	1	432	c.407C>A	c.(406-408)cCc>cAc	p.P136H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTTCTCTACCCCACTATCATG	0.542000													112	152					2.73796e-65	5.05976e-65	0.003610	1	0
KLHDC4	54758	broad.mit.edu	37	16	87742994	87742994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:87742994C>T	ENST00000270583.5	-	10	1382	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	KLHDC4_ENST00000347925.5_Missense_Mutation_p.G411R|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.G385R	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	442								p.G442R(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TAGAGCACCCCATGCTTCACA	0.672000													33	71					0	0	0.005524	0	0
ABCA13	154664	broad.mit.edu	37	7	48312352	48312352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:48312352G>C	ENST00000435803.1	+	17	3113	c.3089G>C	c.(3088-3090)tGt>tCt	p.C1030S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1030					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTATCTTACTGTCAGCAATTG	0.358000													3	13					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55996585	55996585	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:55996585A>T	ENST00000373965.2	-	9	1377	c.983T>A	c.(982-984)gTt>gAt	p.V328D	PCDH15_ENST00000395433.1_Missense_Mutation_p.V306D|PCDH15_ENST00000395445.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395442.1_Missense_Mutation_p.V328D|PCDH15_ENST00000320301.6_Missense_Mutation_p.V328D|PCDH15_ENST00000395430.1_Missense_Mutation_p.V328D|PCDH15_ENST00000437009.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395440.1_Missense_Mutation_p.V328D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.V328D|PCDH15_ENST00000395438.1_Missense_Mutation_p.V328D|PCDH15_ENST00000414778.1_Missense_Mutation_p.V333D|PCDH15_ENST00000395432.2_Missense_Mutation_p.V291D|PCDH15_ENST00000361849.3_Missense_Mutation_p.V328D|PCDH15_ENST00000373957.3_Missense_Mutation_p.V306D|PCDH15_ENST00000395446.1_Missense_Mutation_p.V328D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	328	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V333D(2)|p.V328D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACAAACCAACAAGGATGGA	0.363000										HNSCC(58;0.16)			27	58					0	0	0.001786	0	0
SHANK3	85358	broad.mit.edu	37	22	51117203	51117203	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:51117203C>T	ENST00000414786.2	+	5	682	c.455C>T	c.(454-456)cCc>cTc	p.P152L	SHANK3_ENST00000445220.2_Missense_Mutation_p.P152L|SHANK3_ENST00000262795.3_Missense_Mutation_p.P152L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	152								p.P152F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGAGTGCCCCCTGAGCCTC	0.632000													20	20					0	0	0.001523	0	0
MTUS2	23281	broad.mit.edu	37	13	29598927	29598927	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr13:29598927G>C	ENST00000431530.3	+	1	180	c.122G>C	c.(121-123)aGt>aCt	p.S41T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	31						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S41T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCATCTTAAGTCTGGGAGAT	0.433000													20	26					0	0	0.007413	0	0
LBP	3929	broad.mit.edu	37	20	36989359	36989359	+	Splice_Site	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:36989359T>A	ENST00000217407.2	+	6	751	c.588_splice	c.e6-1	p.I197_splice		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	197					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.I197N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTTTTCAGATTTGCGAAATG	0.498000													17	106					0	0	0.008871	0	0
PTPN3	5774	broad.mit.edu	37	9	112144670	112144670	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:112144670C>G	ENST00000412145.1	-	19	4600	c.2047G>C	c.(2047-2049)Gtg>Ctg	p.V683L	PTPN3_ENST00000446349.1_Missense_Mutation_p.V638L|PTPN3_ENST00000374541.2_Missense_Mutation_p.V814L|PTPN3_ENST00000394827.3_Missense_Mutation_p.V282L|PTPN3_ENST00000262539.3_Missense_Mutation_p.V660L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	814	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.V814L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATCGGGCACACCGTGGTCA	0.567000													19	56					0	0	0.006122	0	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													3	30					0	0	0.004672	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563988	176563988	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:176563988G>T	ENST00000367662.3	+	3	2412	c.1248G>T	c.(1246-1248)ggG>ggT	p.G416G	PAPPA2_ENST00000367661.3_Silent_p.G416G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	416					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G416G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGAGGATGGGCACTATTTCC	0.577000													20	188					5.03518e-11	7.13575e-11	0.007413	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635568	122635568	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:122635568T>A	ENST00000249284.2	-	1	186	c.121A>T	c.(121-123)Agg>Tgg	p.R41W		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	41					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.R41W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCATCAGCCTTCTGACTTGC	0.448000													21	48					0	0	0.002299	0	0
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	rs61777495	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000357760.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000378635.3_Intron					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338000													3	19					0	0	0.000248	0	0
TCERG1	10915	broad.mit.edu	37	5	145838662	145838662	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:145838662G>A	ENST00000296702.5	+	4	692	c.654G>A	c.(652-654)caG>caA	p.Q218Q	TCERG1_ENST00000394421.2_Silent_p.Q218Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	218	Ala/Gln-rich.				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)			cccaggcccaggcccaggccc	0.731000													5	20					0	0	0.001984	0	0
FAM208A	23272	broad.mit.edu	37	3	56675561	56675561	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:56675561T>A	ENST00000431842.2	-	8	2171	c.1247A>T	c.(1246-1248)cAt>cTt	p.H416L	FAM208A_ENST00000493960.2_Missense_Mutation_p.H812L|FAM208A_ENST00000355628.5_Missense_Mutation_p.H812L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	812								p.H416L(1)|p.H812L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTCATACTCATGTTTTTGCCT	0.428000													24	71					0	0	0.002299	0	0
EREG	2069	broad.mit.edu	37	4	75246777	75246777	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:75246777G>A	ENST00000244869.2	+	3	367	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	67	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CAATAACAAAGTGTAGCTCTG	0.388000													10	88					0	0	0.008291	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537096	65537096	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:65537096C>A	ENST00000310193.3	-	2	296	c.122_splice	c.e2-1	p.R41_splice		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	41					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.R41S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CACCGGGTCTCCTACAAGGAA	0.363000													10	60					6.40141e-05	7.6223e-05	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	215940026	215940026	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:215940026C>T	ENST00000366943.2	-	56	11430	c.11044G>A	c.(11044-11046)Gaa>Aaa	p.E3682K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3682K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3682	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3682K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCATTACCTTCAGGAGCTGCC	0.438000										HNSCC(13;0.011)			18	97					0	0	0.007413	0	0
KLRF1	51348	broad.mit.edu	37	12	9985974	9985974	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:9985974T>C	ENST00000279544.3	+	3	324	c.260T>C	c.(259-261)cTa>cCa	p.L87P	KLRF1_ENST00000324214.4_Intron|KLRF1_ENST00000537723.1_Missense_Mutation_p.L87P|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	87					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	p.L87P(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ACTGGAGATCTAAAAGTGAAT	0.393000													35	37					0	0	0.002836	0	0
CCDC89	220388	broad.mit.edu	37	11	85396370	85396370	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:85396370G>A	ENST00000316398.3	-	1	950	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	268						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTCTCTAGTGACGGTCTGCA	0.557000													17	68					0	0	0.004990	0	0
LRRN1	57633	broad.mit.edu	37	3	3888136	3888136	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:3888136A>G	ENST00000319331.3	+	2	2572	c.1811A>G	c.(1810-1812)cAg>cGg	p.Q604R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	604	Fibronectin type-III.					integral to membrane		p.Q604R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATTCATCAGCAGACTCAAAAG	0.478000													66	135					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66620019	66620019	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:66620019G>A	ENST00000393960.1	-	15	1997	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	PC_ENST00000393955.2_Silent_p.D572D|PC_ENST00000393958.2_Silent_p.D572D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	572	Carboxyltransferase.|Substrate binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.D572D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTGGTGGGCGTCCCTGAAGG	0.602000													28	136					0	0	0.001786	0	0
KDM3B	51780	broad.mit.edu	37	5	137735660	137735660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:137735660G>T	ENST00000314358.5	+	11	3358	c.3158G>T	c.(3157-3159)tGc>tTc	p.C1053F	KDM3B_ENST00000542866.1_Missense_Mutation_p.C85F|KDM3B_ENST00000394866.1_Missense_Mutation_p.C709F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1053					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTGGGGTCTGCCTTGACTGT	0.502000													11	89					9.31168e-06	1.1321e-05	0.001855	1	0
TEC	7006	broad.mit.edu	37	4	48147476	48147476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:48147476C>A	ENST00000381501.3	-	13	1359	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	401	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R401L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGCACCTTCCCGAATAGCTTT	0.443000													44	90					7.66079e-34	1.36126e-33	0.002522	1	0
ABCC10	89845	broad.mit.edu	37	6	43413337	43413337	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:43413337G>T	ENST00000244533.3	+	13	3306	c.2946_splice	c.e13-1	p.A983_splice	ABCC10_ENST00000372530.4_Splice_Site_p.A1011_splice	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1011	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTCTCCCAGGCACCAGTGAC	0.612000													13	123					6.72482e-11	9.47216e-11	0.003163	1	0
ZNF676	163223	broad.mit.edu	37	19	22363115	22363115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:22363115C>A	ENST00000397121.2	-	3	1721	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K468N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGAATTCTCTTGTGTTTAG	0.398000													19	111					7.21436e-19	1.1573e-18	0.008871	1	0
TACR3	6870	broad.mit.edu	37	4	104510898	104510898	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:104510898C>A	ENST00000304883.2	-	5	1479	c.1339G>T	c.(1339-1341)Gcc>Tcc	p.A447S	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	447						integral to plasma membrane	tachykinin receptor activity	p.A447S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGGCGGAGGCAGATTTGGAA	0.468000													21	102					9.95505e-16	1.54337e-15	0.002299	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862986	10862986	+	RNA	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:10862986C>T	ENST00000559480.1	+	0	282																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGGACACATCCATGAGCACAG	0.507000													32	399					0	0	0.002836	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685889	125685889	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:125685889T>A	ENST00000371126.1	-	1	945	c.703A>T	c.(703-705)Agc>Tgc	p.S235C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	235								p.S235C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCACCTCGCTATGCCAGGCA	0.647000													31	58					0	0	0.007291	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6330	6330	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrM:6330G>A	ENST00000361624.2	+	1	427	c.427G>A	c.(427-429)Gta>Ata	p.143_143insI						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTGGAGCCTCCGTAGACCTAA	0.507000													75	134					0	0	0.003610	0	0
POTEH	23784	broad.mit.edu	37	22	16266929	16266929	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:16266929C>A	ENST00000343518.6	-	9	1571	c.1520_splice	c.e9+1	p.S507_splice		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	507										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACAGACTTACCTGTGATACTG	0.398000													8	143					4.3838e-07	5.62588e-07	0.001855	1	0
SH3TC2	79628	broad.mit.edu	37	5	148388514	148388514	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:148388514G>T	ENST00000538184.1	-	11	2907	c.2019C>A	c.(2017-2019)ctC>ctA	p.L673L	SH3TC2_ENST00000512049.1_Silent_p.L1119L|SH3TC2_ENST00000515425.1_Silent_p.L1126L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1126							binding	p.L1126L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAATCCGGAGCTCAGTTC	0.527000													35	203					3.33393e-15	5.1172e-15	0.004878	1	0
OR2L2	26246	broad.mit.edu	37	1	248201720	248201720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:248201720G>T	ENST00000366479.2	+	1	247	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D51Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCTTTTTGGACATCCATCT	0.378000													70	284					4.37588e-27	7.45999e-27	0.003610	1	0
MYH1	4619	broad.mit.edu	37	17	10415291	10415291	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:10415291C>A	ENST00000226207.5	-	14	1375	c.1281G>T	c.(1279-1281)gtG>gtT	p.V427V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	427	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.V427V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGAGCACCCACTGCATTGT	0.478000													49	198					4.21674e-32	7.43562e-32	0.003610	1	0
ASUN	55726	broad.mit.edu	37	12	27070649	27070649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:27070649C>A	ENST00000261191.7	-	9	1443	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	ASUN_ENST00000539625.1_Missense_Mutation_p.G202C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	303					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.G303C(1)									CGACTGCCGCCACCTAGATGC	0.338000													19	25					1.00905e-13	1.53349e-13	0.008871	1	0
ZNF687	57592	broad.mit.edu	37	1	151261159	151261159	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:151261159C>T	ENST00000368879.2	+	3	2369	c.2271C>T	c.(2269-2271)caC>caT	p.H757H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.H757H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGTCTGCACGTCTCTCGCC	0.562000													37	193					0	0	0.007835	0	0
SVIL	6840	broad.mit.edu	37	10	29769644	29769644	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:29769644G>A	ENST00000375398.2	-	31	5648	c.5199C>T	c.(5197-5199)ggC>ggT	p.G1733G	SVIL_ENST00000538146.1_Silent_p.G525G|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.G1307G|SVIL_ENST00000535393.1_Silent_p.G647G|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Silent_p.G1733G|PTCHD3P1_ENST00000414457.1_RNA			O95425	SVIL_HUMAN	supervillin	1733					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CATAGCCACGGCCGACGTTCA	0.577000													22	225					0	0	0.002780	0	0
NSUN2	54888	broad.mit.edu	37	5	6625775	6625775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:6625775C>T	ENST00000264670.6	-	4	678	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.E88K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	123						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.E123K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GCAAGTTCTTCAGGATACCTG	0.363000													16	41					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153174228	153174228	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:153174228T>C	ENST00000285900.5	+	14	2661	c.2318T>C	c.(2317-2319)tTg>tCg	p.L773S	GRIA1_ENST00000521843.2_Missense_Mutation_p.L704S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.L693S|GRIA1_ENST00000518783.1_Missense_Mutation_p.L783S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	773					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L773S(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGGGGCTTTTGGACAAATTG	0.448000													9	49					0	0	0.004482	0	0
PCSK6	5046	broad.mit.edu	37	15	101970268	101970268	+	Splice_Site	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:101970268C>A	ENST00000348070.1	-	6	654	c.654_splice	c.e6-1	p.D219_splice	PCSK6_ENST00000331826.7_Splice_Site_p.D54_splice|PCSK6_ENST00000358417.3_Splice_Site_p.D219_splice|PCSK6_ENST00000398181.2_Splice_Site_p.D219_splice|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Splice_Site_p.D219_splice	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	220	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCGTAGGAATCCTAAGAAATG	0.468000													5	18					3.59834e-05	4.318e-05	0.001168	1	0
ZCWPW2	152098	broad.mit.edu	37	3	28454767	28454767	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:28454767A>T	ENST00000383768.2	+	3	396	c.208A>T	c.(208-210)Aac>Tac	p.N70Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.N70Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	70							zinc ion binding	p.N70Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAGATATAATAACTGCTCAAT	0.388000													34	88					0	0	0.002445	0	0
NDST4	64579	broad.mit.edu	37	4	115998013	115998013	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:115998013A>G	ENST00000264363.2	-	2	858	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	60	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Y60Y(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCATTGACCTATATGGTAGAA	0.418000													24	40					0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	177030299	177030299	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:177030299G>T	ENST00000367654.2	-	2	399	c.386C>A	c.(385-387)cCa>cAa	p.P129Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.P129Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P129Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P129Q			O14525	ASTN1_HUMAN	astrotactin 1	129					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGAAGGCTTGGGGCACCATC	0.527000													39	257					6.02501e-08	7.90783e-08	0.006230	1	0
MMP16	4325	broad.mit.edu	37	8	89053837	89053837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:89053837G>T	ENST00000286614.6	-	10	1957	c.1676C>A	c.(1675-1677)gCc>gAc	p.A559D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	559					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.A559D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CACAGTGCTGGCTGTGTTGTC	0.453000													16	115					0.006122	0.00681534	0.006122	1	0
ATM	472	broad.mit.edu	37	11	108115735	108115735	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:108115735G>C	ENST00000278616.4	+	7	1268	c.883G>C	c.(883-885)Gcc>Ccc	p.A295P	ATM_ENST00000452508.2_Missense_Mutation_p.A295P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	295					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.A295P(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCGAAAGGAGCCAAAACCCA	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	16					0	0	0.004990	0	0
GALNT14	79623	broad.mit.edu	37	2	31215762	31215762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:31215762G>T	ENST00000349752.5	-	2	880	c.241C>A	c.(241-243)Cag>Aag	p.Q81K	GALNT14_ENST00000420311.2_Missense_Mutation_p.Q46K|GALNT14_ENST00000406653.1_Missense_Mutation_p.Q61K|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.Q81K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	81						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Q81K(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTCTCCCGCTGGTTGAAAGCA	0.562000													93	79					5.0909e-33	9.01147e-33	0.003610	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363044	17363044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:17363044A>T	ENST00000377602.4	-	8	1104	c.1030T>A	c.(1030-1032)Tgg>Agg	p.W344R		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	344					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.W344R(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GAGAAGGGCCAGAATCCATAC	0.438000													47	142					0	0	0.002522	0	0
NLGN1	22871	broad.mit.edu	37	3	173997429	173997429	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:173997429T>A	ENST00000457714.1	+	6	2067	c.1638T>A	c.(1636-1638)ttT>ttA	p.F546L	NLGN1_ENST00000545397.1_Missense_Mutation_p.F546L|NLGN1_ENST00000401917.3_Missense_Mutation_p.F586L|NLGN1_ENST00000361589.4_Missense_Mutation_p.F546L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	563					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.F546L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGACAAATTTTGCTAAAACTG	0.318000													12	51					0	0	0.002450	0	0
SPAG4	6676	broad.mit.edu	37	20	34207127	34207127	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:34207127C>A	ENST00000374273.3	+	9	916	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	268	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.I268I(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAGCCTCCATCGACCTGCAGA	0.647000													27	118					1.13719e-10	1.58726e-10	0.008361	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717353	222717353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:222717353C>A	ENST00000343410.6	-	2	558	c.500G>T	c.(499-501)cGc>cTc	p.R167L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	167					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R167L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTGGCAGAAGCGGGTACCGTC	0.552000													111	74					5.10254e-61	9.39192e-61	0.003610	1	0
USH2A	7399	broad.mit.edu	37	1	216370054	216370054	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:216370054G>A	ENST00000366943.2	-	19	4478	c.4092C>T	c.(4090-4092)ttC>ttT	p.F1364F	USH2A_ENST00000366942.3_Silent_p.F1364F|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Silent_p.F1364F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1364					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGGATCATGAATACAGGTG	0.363000										HNSCC(13;0.011)			6	40					0	0	0.001984	0	0
SEC23B	10483	broad.mit.edu	37	20	18535781	18535781	+	Silent	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:18535781A>C	ENST00000336714.3	+	19	2610	c.2178A>C	c.(2176-2178)ccA>ccC	p.P726P	SEC23B_ENST00000377465.1_Silent_p.P726P|SEC23B_ENST00000377475.3_Silent_p.P726P|SEC23B_ENST00000262544.2_Silent_p.P726P	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	726					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.P726P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AAGTGAACCCATCTCAGACAC	0.318000													9	34					0	0	0.000978	0	0
HTR1F	3355	broad.mit.edu	37	3	88040204	88040204	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:88040204T>A	ENST00000319595.4	+	1	359	c.305T>A	c.(304-306)gTt>gAt	p.V102D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	102					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGGCTGAGTGTTGACATTACC	0.478000													12	88					0	0	0.000978	0	0
CYP2E1	1571	broad.mit.edu	37	10	135351254	135351254	+	Splice_Site	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:135351254G>T	ENST00000463117.2	+	10	1427		c.e10-1		CYP2E1_ENST00000252945.3_Splice_Site|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1						drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTTTCTCCTAGGGCACAGTCG	0.398000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	43					0.00307968	0.00347027	0.003080	1	0
MORC1	27136	broad.mit.edu	37	3	108829607	108829607	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:108829607T>A	ENST00000232603.5	-	3	225	c.143A>T	c.(142-144)gAt>gTt	p.D48V	MORC1_ENST00000483760.1_Missense_Mutation_p.D48V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	48					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.D48V(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGAAAAGACATCAAGTCTTTC	0.299000													13	14					0	0	0.002450	0	0
MYBPC2	4606	broad.mit.edu	37	19	50961849	50961849	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:50961849G>C	ENST00000357701.5	+	21	2395	c.2344G>C	c.(2344-2346)Gaa>Caa	p.E782Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	782	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E782Q(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCAGCCGAGGAATGGGTCCC	0.652000													6	22					0	0	0.001168	0	0
EPHA6	285220	broad.mit.edu	37	3	97167531	97167531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:97167531C>A	ENST00000389672.5	+	7	1889	c.1851C>A	c.(1849-1851)taC>taA	p.Y617*	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	522						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Y523*(2)|p.Y617*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGACAGGATACAGTGGCTACA	0.398000													13	68					1.41608e-15	2.18076e-15	0.001855	1	0
MYO5C	55930	broad.mit.edu	37	15	52539167	52539167	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:52539167C>A	ENST00000261839.7	-	16	2087	c.1926G>T	c.(1924-1926)acG>acT	p.T642T	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	642	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.T642T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGGGGCGTCGTCGCATTGA	0.458000													12	36					4.3838e-07	5.62588e-07	0.001855	1	0
TBX18	9096	broad.mit.edu	37	6	85457659	85457659	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:85457659G>T	ENST00000369663.5	-	5	1255	c.918C>A	c.(916-918)gtC>gtA	p.V306V	TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438000													5	26					0.00198382	0.00224089	0.001984	1	0
SNX33	257364	broad.mit.edu	37	15	75942210	75942210	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:75942210C>G	ENST00000308527.5	+	1	1964	c.767C>G	c.(766-768)cCc>cGc	p.P256R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	256	PX.				cell communication		phosphatidylinositol binding|protein binding	p.P256R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AAGCTCACACCCACCCATGCT	0.542000													72	100					0	0	0.003610	0	0
REG1A	5967	broad.mit.edu	37	2	79349206	79349206	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:79349206C>A	ENST00000233735.1	+	4	379	c.276C>A	c.(274-276)ggC>ggA	p.G92G		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	92	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G92G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGGAGAGTGGCACTGATGACT	0.502000													28	124					7.68411e-24	1.29093e-23	0.008361	1	0
DMD	1756	broad.mit.edu	37	X	32509489	32509489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:32509489C>A	ENST00000357033.4	-	20	2733	c.2527G>T	c.(2527-2529)Gag>Tag	p.E843*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E839*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	843					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E838*(1)|p.E839*(1)|p.E843*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATCTGCTCCAATTGTTGT	0.423000													21	63					2.32416e-17	3.6899e-17	0.002299	1	0
KCNV2	169522	broad.mit.edu	37	9	2718919	2718919	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:2718919T>G	ENST00000382082.3	+	1	1418	c.1180T>G	c.(1180-1182)Tcc>Gcc	p.S394A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	394						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGCGCGCCACTCCACCGGACT	0.647000													12	66					0	0	0.000978	0	0
OCRL	4952	broad.mit.edu	37	X	128691359	128691359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:128691359C>A	ENST00000371113.4	+	5	461	c.296C>A	c.(295-297)cCt>cAt	p.P99H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.P99H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	99					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.P99H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTTGAAATCCCTGATGAGGAA	0.438000													39	33					1.02687e-29	1.77682e-29	0.003214	1	0
TENM2	57451	broad.mit.edu	37	5	167625975	167625975	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:167625975C>A	ENST00000519204.1	+	15	2773	c.2655C>A	c.(2653-2655)acC>acA	p.T885T	TENM2_ENST00000520394.1_Silent_p.T774T|TENM2_ENST00000545108.1_Silent_p.T1006T|TENM2_ENST00000518659.1_Silent_p.T1006T|TENM2_ENST00000403607.2_Silent_p.T830T					teneurin transmembrane protein 2									p.T839T(1)|p.T885T(1)|p.T1006T(1)									CCATGGACACCCTGGTGATGA	0.567000													38	49					1.06647e-15	1.64786e-15	0.003755	1	0
RMND5A	64795	broad.mit.edu	37	2	86992312	86992312	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:86992312A>G	ENST00000283632.4	+	5	1179	c.684A>G	c.(682-684)caA>caG	p.Q228Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	228								p.Q228Q(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TAAATCATCAAAAAGGTGAGT	0.368000													37	37					0	0	0.003755	0	0
FTSJ1	24140	broad.mit.edu	37	X	48341100	48341100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:48341100C>A	ENST00000019019.2	+	12	1298	c.869C>A	c.(868-870)cCc>cAc	p.P290H	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.P155H|FTSJ1_ENST00000348411.2_Missense_Mutation_p.P292H|FTSJ1_ENST00000456787.1_Missense_Mutation_p.P290H	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	292					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.P292H(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GAGATCCGCCCCCAGGACTGC	0.637000													13	25					7.93312e-07	1.00414e-06	0.002450	1	0
ANKFN1	162282	broad.mit.edu	37	17	54431392	54431392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:54431392C>T	ENST00000566473.2	+	5	595	c.595C>T	c.(595-597)Cga>Tga	p.R199*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.R199*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	199								p.R199*(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GACAGGGGCCCGAGAAAGTCC	0.468000													7	59					0	0	0.004482	0	0
ALB	213	broad.mit.edu	37	4	74277728	74277728	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:74277728G>C	ENST00000295897.4	+	7	818	c.729G>C	c.(727-729)ctG>ctC	p.L243L	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Silent_p.L128L|ALB_ENST00000509063.1_Silent_p.L243L|ALB_ENST00000503124.1_Silent_p.L93L|ALB_ENST00000415165.2_Silent_p.L51L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	243	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.L243L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TAGCTCGCCTGAGCCAGAGAT	0.393000													14	79					0	0	0.002450	0	0
FAM71B	153745	broad.mit.edu	37	5	156590618	156590618	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:156590618G>C	ENST00000302938.4	-	2	753	c.658C>G	c.(658-660)Cct>Gct	p.P220A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	220						nucleus		p.P220A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACATCACAAGGCTTGTAGAGC	0.537000													51	93					0	0	0.003610	0	0
KCNK2	3776	broad.mit.edu	37	1	215345436	215345436	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:215345436T>C	ENST00000444842.2	+	5	883	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L	KCNK2_ENST00000391895.2_Missense_Mutation_p.F241L|KCNK2_ENST00000391894.2_Missense_Mutation_p.F230L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	245							outward rectifier potassium channel activity	p.F230L(1)|p.F245L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGCGATCATATTCAAACACAT	0.408000													35	112					0	0	0.002836	0	0
GEMIN4	50628	broad.mit.edu	37	17	649339	649339	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:649339T>C	ENST00000576778.1	-	1	3252	c.1911A>G	c.(1909-1911)ccA>ccG	p.P637P	GEMIN4_ENST00000319004.5_Silent_p.P648P			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	648					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCACCTCGTCTGGCTCAAGAA	0.488000													13	44					0	0	0.001368	0	0
WDR7	23335	broad.mit.edu	37	18	54361912	54361912	+	Silent	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr18:54361912G>C	ENST00000254442.3	+	10	1240	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L343L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	343										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCATAAACTGTTAATTCAGG	0.343000													6	33					0	0	0.001168	0	0
NLGN1	22871	broad.mit.edu	37	3	173322495	173322495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:173322495G>C	ENST00000457714.1	+	3	536	c.107G>C	c.(106-108)tGt>tCt	p.C36S	NLGN1_ENST00000545397.1_Missense_Mutation_p.C36S|NLGN1_ENST00000401917.3_Missense_Mutation_p.C36S|NLGN1_ENST00000361589.4_Missense_Mutation_p.C36S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	36					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.C36S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGTTGGGATGTTTGCTTCAG	0.493000													58	98					0	0	0.003610	0	0
NLRX1	79671	broad.mit.edu	37	11	119045416	119045416	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:119045416C>G	ENST00000409109.1	+	6	1691	c.1104C>G	c.(1102-1104)tgC>tgG	p.C368W	NLRX1_ENST00000292199.2_Missense_Mutation_p.C368W|NLRX1_ENST00000409265.4_Missense_Mutation_p.C368W|NLRX1_ENST00000409991.1_Missense_Mutation_p.C368W|NLRX1_ENST00000525863.1_Missense_Mutation_p.C368W			Q86UT6	NLRX1_HUMAN	NLR family member X1	368	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.C368W(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGCCTGCTTCCTGCCGT	0.612000													16	60					0	0	0.004990	0	0
PDHA2	5161	broad.mit.edu	37	4	96761790	96761790	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:96761790C>T	ENST00000295266.4	+	1	552	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	163					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G163G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGGGCAATGGCATCGTCGGTG	0.507000													26	64					0	0	0.003330	0	0
MAFG	4097	broad.mit.edu	37	17	79880889	79880889	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:79880889C>G	ENST00000357736.4	-	3	296	c.81G>C	c.(79-81)gaG>gaC	p.E27D	MAFG_ENST00000392366.3_Missense_Mutation_p.E27D|RP11-498C9.12_ENST00000580897.1_RNA	NM_002359.3|NM_032711.3	NP_002350.1|NP_116100.2	O15525	MAFG_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G	27					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E27D(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCACCAGCTCCTCATCCGTCA	0.677000													20	15					0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196737076	196737076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:196737076C>A	ENST00000312428.6	-	40	6631	c.6531G>T	c.(6529-6531)ttG>ttT	p.L2177F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2177	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L2177F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGGTTGAACAAGTAGTGAG	0.393000													24	57					1.64293e-13	2.4644e-13	0.003330	1	0
DNPEP	23549	broad.mit.edu	37	2	220239586	220239586	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:220239586G>A	ENST00000273075.4	-	14	1618	c.1398C>T	c.(1396-1398)acC>acT	p.T466T	DNPEP_ENST00000373972.1_Silent_p.T391T|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.T474T	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	456					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.T466T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CCTTGAAGAGGGTGAGGGTCT	0.612000													15	42					0	0	0.004990	0	0
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:76262729C>G	ENST00000263187.3	+	1	163	c.59C>G	c.(58-60)tCg>tGg	p.S20W		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602000								Mismatch excision repair (MMR)					7	80					0	0	0.003080	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648891	57648891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:57648891C>A	ENST00000402412.1	-	24	3028	c.2638G>T	c.(2638-2640)Ggg>Tgg	p.G880W	R3HDM2_ENST00000441731.2_Missense_Mutation_p.G561W|R3HDM2_ENST00000393811.2_Missense_Mutation_p.G593W|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G866W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G866W|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G900W|R3HDM2_ENST00000413953.2_Intron|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	866						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCACCCGCCCCAGGACTGGA	0.582000													9	86					1.96292e-10	2.69902e-10	0.001523	1	0
UNC13C	440279	broad.mit.edu	37	15	54307398	54307398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr15:54307398G>T	ENST00000545554.1	+	1	2298	c.2298G>T	c.(2296-2298)ttG>ttT	p.L766F	UNC13C_ENST00000537900.1_Missense_Mutation_p.L766F|UNC13C_ENST00000260323.11_Missense_Mutation_p.L766F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	766					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.L766F(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGTGAATTGCAAAGTGATG	0.393000													9	14					0.000442599	0.000511202	0.006214	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004894	55004894	+	Silent	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:55004894T>G	ENST00000216420.7	+	6	924	c.792T>G	c.(790-792)gtT>gtG	p.V264V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	264					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGTGAAGTTGAGCCATCGG	0.443000													14	58					0	0	0.002450	0	0
BAGE2	85319	broad.mit.edu	37	21	11038985	11038985	+	RNA	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:11038985G>T	ENST00000470054.1	-	0	1218									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAACTTTATAGATTTGCCTCC	0.403000													33	250					4.11147e-13	6.12742e-13	0.003755	1	0
OR14I1	401994	broad.mit.edu	37	1	248845247	248845247	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:248845247C>T	ENST00000342623.3	-	1	382	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)|p.R120H(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGCAACATAGCGGTCATAAGA	0.498000													25	35					0	0	0.003954	0	0
YIPF7	285525	broad.mit.edu	37	4	44653604	44653604	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:44653604A>G	ENST00000332990.5	-	1	54	c.38T>C	c.(37-39)tTa>tCa	p.L13S	YIPF7_ENST00000508947.1_Intron	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	13						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATCCTCCAGTAAATGTAGCTT	0.333000													3	6					0	0	0.000248	0	0
ATP11C	286410	broad.mit.edu	37	X	138856885	138856885	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:138856885A>T	ENST00000370557.1	-	19	3207	c.2180T>A	c.(2179-2181)cTg>cAg	p.L727Q	ATP11C_ENST00000359686.2_Missense_Mutation_p.L730Q|ATP11C_ENST00000327569.3_Missense_Mutation_p.L730Q|ATP11C_ENST00000361648.2_Missense_Mutation_p.L730Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.L730Q|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	730					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L730Q(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAACTCATGCAGCAATTTCTT	0.318000													47	62					0	0	0.002852	0	0
PCDH15	65217	broad.mit.edu	37	10	55782832	55782832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:55782832C>A	ENST00000373965.2	-	20	2761	c.2367G>T	c.(2365-2367)agG>agT	p.R789S	PCDH15_ENST00000395433.1_Missense_Mutation_p.R760S|PCDH15_ENST00000395445.1_Missense_Mutation_p.R789S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R782S|PCDH15_ENST00000395430.1_Missense_Mutation_p.R782S|PCDH15_ENST00000437009.1_Missense_Mutation_p.R711S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R393S|PCDH15_ENST00000373955.1_Missense_Mutation_p.R782S|PCDH15_ENST00000395438.1_Missense_Mutation_p.R782S|PCDH15_ENST00000414778.1_Missense_Mutation_p.R787S|PCDH15_ENST00000395432.2_Missense_Mutation_p.R745S|PCDH15_ENST00000361849.3_Missense_Mutation_p.R782S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	782	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R782S(2)|p.R787S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATAGTAGTCCCTGACTTCTC	0.413000										HNSCC(58;0.16)			11	57					0.00829132	0.00920815	0.008291	1	0
MUC5B	727897	broad.mit.edu	37	11	1264268	1264268	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:1264268C>G	ENST00000447027.1	+	31	6225	c.6167C>G	c.(6166-6168)aCt>aGt	p.T2056S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2053S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2053	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAAGTGCCAACTACCACAACC	0.637000													6	23					0	0	0.001855	0	0
PCDH15	65217	broad.mit.edu	37	10	56089382	56089382	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:56089382G>C	ENST00000373965.2	-	7	1073	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G	PCDH15_ENST00000395433.1_Missense_Mutation_p.R205G|PCDH15_ENST00000395445.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R227G|PCDH15_ENST00000320301.6_Missense_Mutation_p.R227G|PCDH15_ENST00000395430.1_Missense_Mutation_p.R227G|PCDH15_ENST00000437009.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395440.1_Missense_Mutation_p.R227G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R227G|PCDH15_ENST00000395438.1_Missense_Mutation_p.R227G|PCDH15_ENST00000414778.1_Missense_Mutation_p.R232G|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R227G|PCDH15_ENST00000373957.3_Missense_Mutation_p.R205G|PCDH15_ENST00000395446.1_Missense_Mutation_p.R227G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	227	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAAGTAGCGAGTCTTATCT	0.313000										HNSCC(58;0.16)			6	101					0	0	0.004482	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696883	17696883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:17696883C>A	ENST00000399080.2	-	1	2823	c.2800G>T	c.(2800-2802)Ggt>Tgt	p.G934C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	934										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCACTCAGACCAGTTTCAAAT	0.323000													5	29					1.23904e-05	1.50246e-05	0.000602	1	0
PLCE1	51196	broad.mit.edu	37	10	96064273	96064273	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:96064273G>A	ENST00000260766.3	+	25	6127	c.5493G>A	c.(5491-5493)gaG>gaA	p.E1831E	PLCE1_ENST00000371385.3_Silent_p.E1523E|PLCE1_ENST00000371380.2_Silent_p.E1831E|PLCE1_ENST00000371375.1_Silent_p.E1523E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1831	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E1831E(1)|p.E1523E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAATGTTTGAGGCAAATGGTG	0.383000													60	88					0	0	0.003610	0	0
TMEM171	134285	broad.mit.edu	37	5	72419547	72419547	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:72419547G>A	ENST00000454765.2	+	2	820	c.347G>A	c.(346-348)gGg>gAg	p.G116E	TMEM171_ENST00000287773.5_Missense_Mutation_p.G116E			Q8WVE6	TM171_HUMAN	transmembrane protein 171	116						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CTTATCTTTGGGTTTCTGTTC	0.587000													8	177					0	0	0.004482	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214252	3214252	+	RNA	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:3214252C>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA														p.L216L(1)									CCTTGGTCCTCATCACTGTGT	0.567000													24	67					2.21704e-12	3.23114e-12	0.002780	1	0
GBP7	388646	broad.mit.edu	37	1	89598950	89598950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:89598950G>T	ENST00000294671.2	-	10	1791	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	551						integral to membrane	GTP binding|GTPase activity	p.H551Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCTTCATCTTGTGACTCAACA	0.423000													16	85					2.4624e-09	3.3264e-09	0.008871	1	0
PTER	9317	broad.mit.edu	37	10	16526805	16526805	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:16526805C>G	ENST00000378000.1	+	3	668	c.422C>G	c.(421-423)tCa>tGa	p.S141*	PTER_ENST00000535784.2_Nonsense_Mutation_p.S141*|PTER_ENST00000423462.2_Nonsense_Mutation_p.S141*|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Nonsense_Mutation_p.S141*	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	141					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	p.S141*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AGGGCCATGTCAGTGGAGCAG	0.488000													9	50					0	0	0.004482	0	0
EGLN2	112398	broad.mit.edu	37	19	41313712	41313712	+	Splice_Site	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:41313712A>C	ENST00000593726.1	+	5	2196		c.e5-1		RAB4B-EGLN2_ENST00000594136.1_Splice_Site|EGLN2_ENST00000594140.1_Splice_Site|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000303961.4_Splice_Site|EGLN2_ENST00000406058.2_Splice_Site			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2						cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	p.?(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TCTCACCCCCAGCATCAGGAC	0.567000											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	0.001855	0	0
IDH3G	3421	broad.mit.edu	37	X	153052271	153052271	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:153052271G>A	ENST00000370092.3	-	10	1094	c.909C>T	c.(907-909)taC>taT	p.Y303Y	IDH3G_ENST00000370093.1_Silent_p.Y303Y|IDH3G_ENST00000217901.5_Silent_p.Y303Y|IDH3G_ENST00000427365.2_Silent_p.Y245Y	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	303					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.Y303Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAAACACCGCGTACACATGGC	0.592000													107	133					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708890	176708890	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:176708890C>G	ENST00000367662.3	+	13	5091	c.3927C>G	c.(3925-3927)caC>caG	p.H1309Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1309					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGCAACCACTCTCTTGGTG	0.478000													7	63					0	0	0.003080	0	0
COMMD8	54951	broad.mit.edu	37	4	47455122	47455122	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:47455122C>T	ENST00000381571.4	-	4	552	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	162	COMM.						protein binding	p.R162K(1)		large_intestine(2)|lung(5)|prostate(1)	8						CAGCTCCTCTCTACTCATTTC	0.353000													14	60					0	0	0.001855	0	0
SDK1	221935	broad.mit.edu	37	7	4153064	4153064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:4153064G>T	ENST00000404826.2	+	24	3717	c.3578G>T	c.(3577-3579)cGc>cTc	p.R1193L	SDK1_ENST00000389531.3_Missense_Mutation_p.R1193L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1193	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1193L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGCGGCTTCGCTGGGTGGTG	0.637000													40	157					1.11015e-26	1.88562e-26	0.003610	1	0
FAM3A	60343	broad.mit.edu	37	X	153736186	153736186	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:153736186C>A	ENST00000447601.2	-	6	807	c.341G>T	c.(340-342)aGc>aTc	p.S114I	FAM3A_ENST00000393572.1_Missense_Mutation_p.S76I|FAM3A_ENST00000359889.5_Missense_Mutation_p.S114I|FAM3A_ENST00000369643.1_Missense_Mutation_p.S114I|FAM3A_ENST00000434658.2_Intron|FAM3A_ENST00000369641.3_Missense_Mutation_p.S121I	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	114						extracellular region		p.S114I(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCTCGCCGCTGACCCCTGT	0.672000													10	7					1.11149e-13	1.68363e-13	0.008291	1	0
CCDC178	374864	broad.mit.edu	37	18	30846968	30846968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr18:30846968C>A	ENST00000383096.3	-	14	1503	c.1321G>T	c.(1321-1323)Gct>Tct	p.A441S	CCDC178_ENST00000402325.1_Missense_Mutation_p.A441S|CCDC178_ENST00000406524.2_Missense_Mutation_p.A441S|CCDC178_ENST00000403303.1_Missense_Mutation_p.A441S|CCDC178_ENST00000579947.1_Missense_Mutation_p.A441S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.A441S|CCDC178_ENST00000583930.1_Missense_Mutation_p.A441S					coiled-coil domain containing 178									p.A441S(2)									AAAGAAATAGCTGAAAAATCT	0.279000													64	8					1.72039e-30	3.01068e-30	0.003610	1	0
IL9R	3581	broad.mit.edu	37	X	155234200	155234200	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:155234200G>A	ENST00000424344.3	+	6	853	c.486G>A	c.(484-486)ctG>ctA	p.L162L	IL9R_ENST00000244174.5_Silent_p.L183L|IL9R_ENST00000369423.2_Silent_p.L218L|IL9R_ENST00000540897.1_Silent_p.L208L			Q01113	IL9R_HUMAN	interleukin 9 receptor	183	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTATGAGCTGGCCTTCAAGA	0.572000													10	95					0	0	0.008291	0	0
PKP3	11187	broad.mit.edu	37	11	403755	403755	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:403755G>T	ENST00000331563.2	+	10	2137	c.2061G>T	c.(2059-2061)agG>agT	p.R687S		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	687					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACGCTAGGAACAAGGACG	0.592000													7	37					1.06961e-07	1.39594e-07	0.003080	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								14	27					0	0	0.003163	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008841	142008841	+	RNA	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:142008841C>G	ENST00000390387.3	+	0	361																											CTTGGTGACTCTGCTGTGTAT	0.498000													6	45					0	0	0.003080	0	0
SLC26A6	65010	broad.mit.edu	37	3	48667389	48667389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:48667389G>A	ENST00000358747.6	-	12	1632	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	SLC26A6_ENST00000395550.2_Missense_Mutation_p.T482M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.T482M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.T446M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.T375M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.T482M	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GATGGTGGCCGTGAAGGTCAC	0.627000													9	76					0	0	0.006214	0	0
CBLN2	147381	broad.mit.edu	37	18	70205518	70205518	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr18:70205518G>T	ENST00000269503.4	-	5	1341	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	CBLN2_ENST00000584764.1_Missense_Mutation_p.L74M|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.L76M|CBLN2_ENST00000585159.1_Missense_Mutation_p.L190M	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	190	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TCCATGAGCAGCAGCACGCCA	0.507000													50	57					6.32628e-17	9.94129e-17	0.003610	1	0
DSE	29940	broad.mit.edu	37	6	116758380	116758380	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:116758380G>T	ENST00000331677.3	+	7	3193	c.2749G>T	c.(2749-2751)Gca>Tca	p.A917S	DSE_ENST00000359564.2_Missense_Mutation_p.A917S|DSE_ENST00000452085.3_Missense_Mutation_p.A917S|DSE_ENST00000537543.1_Missense_Mutation_p.A936S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	917					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.A917S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTCATGTTGGCAATGCAACT	0.433000													19	41					9.7654e-05	0.000115682	0.007413	1	0
CTNNA2	1496	broad.mit.edu	37	2	80773162	80773162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:80773162C>A	ENST00000466387.1	+	15	2238	c.1514C>A	c.(1513-1515)tCa>tAa	p.S505*	CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.S505*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.S539*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.S184*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.S505*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	505					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.S505*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACATCACCTCAGTGGATGAC	0.512000													8	36					0.000157383	0.000185015	0.003080	1	0
CHDC2	286464	broad.mit.edu	37	X	36103605	36103605	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:36103605A>T	ENST00000378660.1	+	5	779	c.591A>T	c.(589-591)aaA>aaT	p.K197N	CHDC2_ENST00000313548.4_Missense_Mutation_p.K197N					calponin homology domain containing 2									p.K197N(1)									ACCATGAAAAAAGGGTAATTC	0.368000													11	33					0	0	0.001368	0	0
NFATC2	4773	broad.mit.edu	37	20	50051770	50051770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:50051770C>A	ENST00000371564.3	-	8	2206	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	NFATC2_ENST00000396009.3_Missense_Mutation_p.G663W|NFATC2_ENST00000414705.1_Missense_Mutation_p.G643W	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	663					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.G663W(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCTCTTCCCATTGATGACG	0.453000													29	117					4.43304e-23	7.39373e-23	0.006320	1	0
RAD54B	25788	broad.mit.edu	37	8	95390439	95390439	+	Silent	SNP	G	G	A	rs149121834		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:95390439G>A	ENST00000336148.5	-	14	2608	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACACTCACAGTCAAGCAGAT	0.299000								Direct reversal of damage;Homologous recombination					4	26					0	0	0.000248	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546052	138546052	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:138546052C>A	ENST00000440172.1	-	16	5128	c.5080G>T	c.(5080-5082)Gcc>Tcc	p.A1694S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1694S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1694						integral to membrane		p.A1644S(1)|p.A1694S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCAAAGGCGTCGTCCAGG	0.697000			O	BRAF	pilocytic astrocytoma								17	46					1.5739e-10	2.1836e-10	0.004007	1	0
SPRY3	10251	broad.mit.edu	37	X	155003884	155003884	+	Silent	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:155003884T>A	ENST00000302805.2	+	2	782	c.351T>A	c.(349-351)ccT>ccA	p.P117P		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	117					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.P117P(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACCCAACCTGGAGCAGGGG	0.552000													54	93					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49670342	49670342	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:49670342C>A	ENST00000561648.1	-	4	2774	c.2721G>T	c.(2719-2721)cgG>cgT	p.R907R	ZNF423_ENST00000563137.2_Silent_p.R847R|ZNF423_ENST00000562871.1_Silent_p.R847R|ZNF423_ENST00000562520.1_Silent_p.R847R|ZNF423_ENST00000262383.2_Silent_p.R907R|ZNF423_ENST00000535559.1_Silent_p.R790R|ZNF423_ENST00000567169.1_Silent_p.R790R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	907					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TATTGTGGTCCCGCAGCCGGT	0.587000													15	91					2.61681e-11	3.75456e-11	0.002450	1	0
PPP2CA	5515	broad.mit.edu	37	5	133541766	133541766	+	Silent	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:133541766A>G	ENST00000481195.1	-	2	439	c.159T>C	c.(157-159)acT>acC	p.T53T	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000518409.1_5'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme									p.T53T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCACAGACAGTAACTGGAC	0.388000													36	63					0	0	0.005524	0	0
FERMT2	10979	broad.mit.edu	37	14	53327080	53327080	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:53327080C>T	ENST00000395631.2	-	13	1922	c.1706G>A	c.(1705-1707)gGc>gAc	p.G569D	FERMT2_ENST00000343279.4_Missense_Mutation_p.G576D|FERMT2_ENST00000553373.1_Missense_Mutation_p.G576D|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000399304.3_Missense_Mutation_p.G576D|FERMT2_ENST00000341590.3_Missense_Mutation_p.G569D			Q96AC1	FERM2_HUMAN	fermitin family member 2	569	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GTGAGTGATGCCAAATTCAGG	0.388000													4	32					0	0	0.000248	0	0
PRR25	388199	broad.mit.edu	37	16	855579	855579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:855579G>T	ENST00000301698.1	+	1	137	c.137G>T	c.(136-138)cGt>cTt	p.R46L		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	46										large_intestine(1)|lung(1)|skin(1)	3						ATCCTGCTACGTGGAGACCAG	0.652000													6	28					0.00116845	0.00132634	0.001168	1	0
SHANK3	85358	broad.mit.edu	37	22	51117202	51117202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:51117202C>T	ENST00000414786.2	+	5	681	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	SHANK3_ENST00000445220.2_Missense_Mutation_p.P152S|SHANK3_ENST00000262795.3_Missense_Mutation_p.P152S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	152								p.P152F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGAGTGCCCCCTGAGCCT	0.637000													20	21					0	0	0.001523	0	0
PCDH18	54510	broad.mit.edu	37	4	138442797	138442797	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:138442797A>T	ENST00000344876.4	-	4	3180	c.2794T>A	c.(2794-2796)Tgg>Agg	p.W932R	PCDH18_ENST00000412923.2_Missense_Mutation_p.W931R|PCDH18_ENST00000511115.1_Missense_Mutation_p.W112R|PCDH18_ENST00000510305.1_Missense_Mutation_p.W143R|PCDH18_ENST00000507846.1_Missense_Mutation_p.W711R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	932	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.W932R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGGCATCCAGCACTGGTCA	0.507000													46	178					0	0	0.003610	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795933	100795933	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:100795933T>G	ENST00000361529.3	+	6	956	c.878T>G	c.(877-879)tTc>tGc	p.F293C	SLC25A47_ENST00000557052.1_Missense_Mutation_p.F147C	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	293					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.F293C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ATGGTGGTCTTCGTCGCCTAT	0.642000													28	106					0	0	0.002096	0	0
SYN3	8224	broad.mit.edu	37	22	33265006	33265006	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:33265006G>C	ENST00000358763.2	-	5	810	c.568C>G	c.(568-570)Cct>Gct	p.P190A	SYN3_ENST00000332840.5_Missense_Mutation_p.P190A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.P190A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGACAGCAGGCAGCCCTCCA	0.612000													13	42					0	0	0.002450	0	0
MBD4	8930	broad.mit.edu	37	3	129155735	129155735	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:129155735C>A	ENST00000429544.2	-	3	947	c.752G>T	c.(751-753)aGg>aTg	p.R251M	MBD4_ENST00000503197.1_Missense_Mutation_p.R251M|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.R251M|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.R251M	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	251					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	p.R251M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ACAGCTCTTCCTACATCCTTT	0.368000								Base excision repair (BER), DNA glycosylases					55	102					4.37618e-36	7.83642e-36	0.003610	1	0
TMEM194A	23306	broad.mit.edu	37	12	57457866	57457866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:57457866G>A	ENST00000300128.4	-	6	765	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	TMEM194A_ENST00000379391.3_Nonsense_Mutation_p.Q175*	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	248						integral to membrane		p.Q248*(1)|p.Q175*(1)		endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAAAGATACTGCCAGTAACAC	0.378000													4	27					0	0	0.000248	0	0
PDZD2	23037	broad.mit.edu	37	5	32077588	32077588	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:32077588C>G	ENST00000438447.1	+	19	3946	c.3558C>G	c.(3556-3558)acC>acG	p.T1186T	PDZD2_ENST00000282493.3_Silent_p.T1186T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1186					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.T1186T(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAAGCTGACCACTGGAGATG	0.498000													14	108					0	0	0.002450	0	0
KCNV1	27012	broad.mit.edu	37	8	110980325	110980325	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:110980325A>G	ENST00000524391.1	-	4	2527	c.1495T>C	c.(1495-1497)Tgg>Cgg	p.W499R	KCNV1_ENST00000297404.1_Missense_Mutation_p.W499R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	499						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.W499R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATTCAAAACCAGAAATCATCT	0.378000													12	56					0	0	0.001368	0	0
CRX	1406	broad.mit.edu	37	19	48342705	48342705	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:48342705C>A	ENST00000221996.7	+	4	587	c.381C>A	c.(379-381)ccC>ccA	p.P127P	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.P127P	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	127					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P127P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCCAAGACCCTCCACAGATG	0.672000													26	132					4.59853e-10	6.30421e-10	0.005443	1	0
MASP1	5648	broad.mit.edu	37	3	186953983	186953983	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:186953983A>T	ENST00000296280.6	-	11	1901	c.1676T>A	c.(1675-1677)cTg>cAg	p.L559Q	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.L446Q|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	558	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.L559Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGCTCCTGCAGCTGCACCAG	0.627000													18	111					0	0	0.008871	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795911	100795911	+	Missense_Mutation	SNP	T	T	G	rs150644466		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:100795911T>G	ENST00000361529.3	+	6	934	c.856T>G	c.(856-858)Ttc>Gtc	p.F286V	SLC25A47_ENST00000557052.1_Missense_Mutation_p.F140V	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	286					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.F286V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CTGCCGCGCCTTCCCTGTCAA	0.652000													29	124					0	0	0.008361	0	0
TERT	7015	broad.mit.edu	37	5	1272394	1272394	+	Splice_Site	SNP	A	A	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:1272394A>C	ENST00000310581.5	-	7	2345	c.2286_splice	c.e7-1	p.V763_splice	TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Splice_Site_p.V763_splice|TERT_ENST00000296820.5_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	763	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAAGGTAGAGACCTGCCGGCA	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	10					0	0	0.004482	0	0
OR4C16	219428	broad.mit.edu	37	11	55340015	55340015	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:55340015G>T	ENST00000314634.3	+	1	412	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V138F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AAGCCAGTGGGTCTGTGGTGT	0.512000													33	106					5.84002e-05	6.97181e-05	0.002445	1	0
SEC14L5	9717	broad.mit.edu	37	16	5057380	5057380	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:5057380C>T	ENST00000251170.7	+	13	1645	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	489						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGGGCTGGTCCCCAAGTCCCT	0.617000													6	29					0	0	0.001168	0	0
SI	6476	broad.mit.edu	37	3	164741538	164741538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:164741538C>A	ENST00000264382.3	-	26	2981	c.2919G>T	c.(2917-2919)gaG>gaT	p.E973D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	973	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E973D(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAAGTAACACTCAGGTGCTT	0.368000										HNSCC(35;0.089)			10	20					3.86212e-05	4.62254e-05	0.008291	1	0
CDYL2	124359	broad.mit.edu	37	16	80642134	80642134	+	Splice_Site	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:80642134T>A	ENST00000299564.8	-	6	1374		c.e6-2		CDYL2_ENST00000566173.1_Splice_Site|CDYL2_ENST00000563890.1_Splice_Site|CDYL2_ENST00000562812.1_Splice_Site	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTCATTGGCCTGAAAAAGCAA	0.617000													4	6					0	0	0.000248	0	0
EDN3	1908	broad.mit.edu	37	20	57876637	57876637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:57876637C>A	ENST00000311585.7	+	2	595	c.225C>A	c.(223-225)agC>agA	p.S75R	EDN3_ENST00000371028.2_Missense_Mutation_p.S75R|EDN3_ENST00000337938.2_Missense_Mutation_p.S75R|EDN3_ENST00000395654.3_Missense_Mutation_p.S75R|EDN3_ENST00000371025.3_Missense_Mutation_p.S75R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	75					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGGGTCCAAGCCCTGGAAGCC	0.677000													13	126					1.49906e-05	1.813e-05	0.002450	1	0
SLC5A5	6528	broad.mit.edu	37	19	17985510	17985510	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:17985510C>T	ENST00000222248.3	+	4	860	c.513C>T	c.(511-513)acC>acT	p.T171T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	171					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCTGTCCACCGGAATTATCT	0.602000													7	58					0	0	0.001984	0	0
KANK4	163782	broad.mit.edu	37	1	62740108	62740108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:62740108C>A	ENST00000371153.4	-	3	1046	c.668G>T	c.(667-669)cGg>cTg	p.R223L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	223	Pro-rich.							p.R223L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTGGAATCCGAGTTGATGC	0.572000													15	45					2.32078e-09	3.14429e-09	0.003163	1	0
REPS2	9185	broad.mit.edu	37	X	17152022	17152022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:17152022G>C	ENST00000357277.3	+	15	1825	c.1654G>C	c.(1654-1656)Gca>Cca	p.A552P	REPS2_ENST00000303843.7_Missense_Mutation_p.A551P|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.A351P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	552	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	p.A552P(1)|p.A413P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AAGTAGTCCAGCAAAGAAGGT	0.517000													76	147					0	0	0.003610	0	0
NDST1	3340	broad.mit.edu	37	5	149919745	149919745	+	Silent	SNP	C	C	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:149919745C>G	ENST00000261797.6	+	8	2170	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	NDST1_ENST00000523767.1_Silent_p.L556L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	556	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L556L(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACGAACCTCCGGCTGCAGA	0.612000													10	75					0	0	0.008291	0	0
COL25A1	84570	broad.mit.edu	37	4	109822318	109822318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:109822318C>A	ENST00000399132.1	-	14	1321	c.791G>T	c.(790-792)gGg>gTg	p.G264V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G260V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G264V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	264	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCAGGCAACCCGGGCTCACC	0.378000													7	57					2.0095e-06	2.49567e-06	0.001984	1	0
MEP1A	4224	broad.mit.edu	37	6	46801130	46801130	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:46801130G>A	ENST00000230588.4	+	11	1473	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	488	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.V488V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTTTCATGTGTGCAGTGGGG	0.473000													28	254					0	0	0.008361	0	0
OC90	729330	broad.mit.edu	37	8	133044267	133044267	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:133044267T>A	ENST00000262283.5	-	16	1627	c.1528A>T	c.(1528-1530)Agt>Tgt	p.S510C	OC90_ENST00000254627.3_Missense_Mutation_p.S298C|OC90_ENST00000603859.1_Missense_Mutation_p.S298C|OC90_ENST00000443356.2_Missense_Mutation_p.S314C			Q02509	OC90_HUMAN	otoconin 90	314					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.S272C(1)|p.S510C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTGTCCCCACTTCCCAGGTGC	0.537000													17	121					0	0	0.004990	0	0
P2RY8	286530	broad.mit.edu	37	X	1584615	1584615	+	Silent	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:1584615C>A	ENST00000381297.4	-	2	1047	c.837G>T	c.(835-837)ctG>ctT	p.L279L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	279						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L279L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGAGACACAGCGTGAGCT	0.577000			T	CRLF2	"""B-ALL, Downs associated ALL"""								30	58					1.22384e-17	1.9497e-17	0.002836	1	0
PMFBP1	83449	broad.mit.edu	37	16	72184552	72184552	+	Silent	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:72184552G>A	ENST00000537465.1	-	5	749	c.591C>T	c.(589-591)tgC>tgT	p.C197C	PMFBP1_ENST00000355636.6_Silent_p.C52C|PMFBP1_ENST00000237353.10_Silent_p.C197C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	197								p.C197C(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTTCACTTGGCATTCTAGTA	0.527000													36	149					0	0	0.005524	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963072	106963072	+	RNA	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:106963072G>T	ENST00000390621.2	-	0	267																											TGAAAGGTGTGATCCATCCCA	0.542000													23	74					1.28384e-07	1.6708e-07	0.001882	1	0
RPH3A	22895	broad.mit.edu	37	12	113333615	113333615	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:113333615G>A	ENST00000389385.4	+	21	2388	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RPH3A_ENST00000548866.1_Missense_Mutation_p.A582T|RPH3A_ENST00000543106.2_Missense_Mutation_p.A631T|RPH3A_ENST00000447659.2_Missense_Mutation_p.A582T|RPH3A_ENST00000415485.3_Missense_Mutation_p.A631T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.A631T|RPH3A_ENST00000551052.1_Missense_Mutation_p.A627T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	631	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.A627T(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGTGACCTGGCAAAGAAGTC	0.468000													17	60					0	0	0.004990	0	0
GRIK1	2897	broad.mit.edu	37	21	31062202	31062202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:31062202G>T	ENST00000399914.1	-	3	911	c.390C>A	c.(388-390)caC>caA	p.H130Q	GRIK1_ENST00000399909.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.H130Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.H130Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.H130Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.H130Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.H130Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	130					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.H130Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGGTCTGTATGTGTGGAACTT	0.517000													81	148					1.75807e-36	3.16042e-36	0.003610	1	0
ADCY6	112	broad.mit.edu	37	12	49171216	49171216	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:49171216C>A	ENST00000307885.4	-	4	1919	c.1225G>T	c.(1225-1227)Gcc>Tcc	p.A409S	ADCY6_ENST00000357869.3_Missense_Mutation_p.A409S|ADCY6_ENST00000550422.1_Missense_Mutation_p.A409S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	409					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	ATP binding|metal ion binding	p.A409F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCAAACCGGGCAAAGAGCTCA	0.592000													68	49					4.09171e-25	6.89916e-25	0.003610	1	0
C9orf131	138724	broad.mit.edu	37	9	35045314	35045314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:35045314C>A	ENST00000312292.5	+	2	2735	c.2688C>A	c.(2686-2688)agC>agA	p.S896R	C9orf131_ENST00000421362.2_Missense_Mutation_p.S848R|C9orf131_ENST00000354479.5_Missense_Mutation_p.S823R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	896								p.S896R(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGATGGTGAGCCAGGTCCCAT	0.552000													63	240					2.18419e-29	3.75129e-29	0.003610	1	0
HBG2	3048	broad.mit.edu	37	11	5275544	5275544	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:5275544T>A	ENST00000380259.2	-	7	1533	c.293A>T	c.(292-294)cAt>cTt	p.H98L	HBG2_ENST00000380252.1_Missense_Mutation_p.H88L|HBG2_ENST00000336906.4_Missense_Mutation_p.H98L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCCACATGCAGCTTGTC	0.498000													9	129					0	0	0.002450	0	0
BTBD6	90135	broad.mit.edu	37	14	105716678	105716678	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:105716678A>G	ENST00000463376.2	+	3	1443	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	BTBD6_ENST00000536364.1_Missense_Mutation_p.Y376C|BTBD6_ENST00000392554.3_Missense_Mutation_p.Y376C|BTBD6_ENST00000327471.3_Missense_Mutation_p.Y301C|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	376						cytoplasmic mRNA processing body		p.Y301C(1)		endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTGGGCCTGTATGGCTCCAGC	0.577000													16	56					0	0	0.004990	0	0
ZNF365	22891	broad.mit.edu	37	10	64136074	64136074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:64136074C>T	ENST00000395254.3	+	2	402	c.122C>T	c.(121-123)tCa>tTa	p.S41L	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S41L|ZNF365_ENST00000395255.3_Missense_Mutation_p.S41L	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.S41L(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAAGCTTGTCATCCTTGAGG	0.498000													28	73					0	0	0.004656	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652340	108652340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:108652340C>A	ENST00000218006.2	-	9	2140	c.1849G>T	c.(1849-1851)Ggg>Tgg	p.G617W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	617	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAAACATCCCCGAATCATAG	0.413000													9	74					1.76689e-08	2.35246e-08	0.006214	1	0
SNX32	254122	broad.mit.edu	37	11	65618622	65618622	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:65618622G>C	ENST00000308342.6	+	7	1125	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	234					cell communication|protein transport		phosphatidylinositol binding	p.A234P(1)|p.A234T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CGTCATGCGCGCCCACAAGTG	0.622000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	118					0	0	0.003755	0	0
LILRB1	10859	broad.mit.edu	37	19	55144512	55144512	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:55144512C>A	ENST00000396331.1	+	8	1361	c.1004C>A	c.(1003-1005)aCg>aAg	p.T335K	LILRB1_ENST00000324602.7_Missense_Mutation_p.T335K|LILRB1_ENST00000448689.1_Missense_Mutation_p.T335K|LILRB1_ENST00000434867.2_Missense_Mutation_p.T335K|LILRB1_ENST00000418536.2_Missense_Mutation_p.T335K|LILRB1_ENST00000396315.1_Missense_Mutation_p.T335K|LILRB1_ENST00000396317.1_Missense_Mutation_p.T335K|LILRB1_ENST00000396321.2_Missense_Mutation_p.T335K|LILRB1_ENST00000396327.3_Missense_Mutation_p.T335K|LILRB1_ENST00000396332.4_Missense_Mutation_p.T335K|LILRB1_ENST00000427581.2_Missense_Mutation_p.T371K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	335	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.T335K(1)		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)		CCGGGCCCCACGGTGGCCTCA	0.607000										HNSCC(37;0.09)			30	68					4.3181e-19	6.97539e-19	0.002836	1	0
COL11A1	1301	broad.mit.edu	37	1	103544335	103544335	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:103544335C>T	ENST00000358392.2	-	3	684	c.367G>A	c.(367-369)Ggt>Agt	p.G123S	COL11A1_ENST00000353414.4_Missense_Mutation_p.G123S|COL11A1_ENST00000370096.3_Missense_Mutation_p.G123S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G123S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	123	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G123S(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTGAATACCATGCTCATTA	0.388000													6	39					0	0	0.001168	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706906	33706906	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr18:33706906T>A	ENST00000269187.5	-	2	278	c.65A>T	c.(64-66)cAt>cTt	p.H22L	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.H22L	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	22						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTTTAGTTCATGAAGGGGATT	0.428000													317	31					0	0	0.003610	0	0
PET112	5188	broad.mit.edu	37	4	152622522	152622522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:152622522G>A	ENST00000263985.6	-	9	1196	c.1156C>T	c.(1156-1158)Caa>Taa	p.Q386*	PET112_ENST00000515812.1_Nonsense_Mutation_p.Q345*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	386						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	p.Q386*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATACTGTTGGACAAGCTTC	0.562000													26	47					0	0	0.003954	0	0
DARC	2532	broad.mit.edu	37	1	159176052	159176052	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:159176052A>T	ENST00000537147.1	+	3	1666	c.823A>T	c.(823-825)Aca>Tca	p.T275S	DARC_ENST00000368122.2_Missense_Mutation_p.T275S|DARC_ENST00000368121.2_Missense_Mutation_p.T277S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	275					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.T277S(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GCTGTTGTCAACATGTCTGGC	0.557000													68	446					0	0	0.003610	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260091	90260091	+	RNA	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:90260091C>A	ENST00000471857.1	+	0	375																											CCAGGGAAAGCCCCTGAGCTC	0.493000													53	111					1.46156e-29	2.51955e-29	0.003610	1	0
PRRC2C	23215	broad.mit.edu	37	1	171535858	171535858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:171535858G>T	ENST00000367742.3	+	22	6676	c.6434G>T	c.(6433-6435)aGc>aTc	p.S2145I	PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2145I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2143I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2143I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2143							protein C-terminus binding	p.S2145I(2)									GAGAAACCAAGCCCAGCTACA	0.423000													21	13					3.51602e-12	5.10817e-12	0.008871	1	0
FGD5	152273	broad.mit.edu	37	3	14861865	14861865	+	Silent	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:14861865C>T	ENST00000285046.5	+	1	1397	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	FGD5_ENST00000543601.1_Silent_p.P188P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	429					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P429P(1)|p.P188P(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCAACCCCTATGTGATGG	0.647000													18	44					0	0	0.006122	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521849	49521849	+	Silent	SNP	G	G	A	rs141499311	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:49521849G>A	ENST00000336023.5	-	4	1342	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CTGAAAACTCGCCTTCCTCCA	0.547000													11	122					0	0	0.001855	0	0
ACOX1	51	broad.mit.edu	37	17	73945907	73945907	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:73945907T>C	ENST00000537812.1	-	10	1904	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	ACOX1_ENST00000293217.5_Missense_Mutation_p.D457G|ACOX1_ENST00000301608.4_Missense_Mutation_p.D457G	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	457					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	p.D457G(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACTGGGCAGGTCGTTCAAATA	0.488000													31	120					0	0	0.004289	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964814	119964814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:119964814G>T	ENST00000543831.1	+	4	939	c.690G>T	c.(688-690)tgG>tgT	p.W230C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.W230C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	230					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.W230C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACGTGGCCTGGGCCCACATTC	0.517000													23	77					3.73808e-20	6.14589e-20	0.005443	1	0
EDC4	23644	broad.mit.edu	37	16	67918040	67918040	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:67918040A>T	ENST00000358933.5	+	29	4434	c.4195A>T	c.(4195-4197)Agc>Tgc	p.S1399C	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1399					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.S1399C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CGTGACCCCCAGCCTCCCTTA	0.622000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	0.008291	0	0
CLDN14	23562	broad.mit.edu	37	21	37833634	37833634	+	Silent	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr21:37833634G>T	ENST00000399137.1	-	3	1226	c.360C>A	c.(358-360)ctC>ctA	p.L120L	CLDN14_ENST00000399136.1_Silent_p.L120L|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Silent_p.L120L|CLDN14_ENST00000399135.1_Silent_p.L120L|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Silent_p.L120L	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	120					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L120L(1)		endometrium(1)|lung(5)|skin(1)	7						GGGTGCCGCCGAGGATGGCAA	0.662000													27	112					9.65021e-13	1.41987e-12	0.002096	1	0
PLAGL2	5326	broad.mit.edu	37	20	30785235	30785235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr20:30785235G>T	ENST00000246229.4	-	3	775	c.511C>A	c.(511-513)Ctg>Atg	p.L171M		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L171M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTCTAGCAGGGCCTGGGTA	0.627000													8	43					2.17888e-05	2.62146e-05	0.006214	1	0
FLT4	2324	broad.mit.edu	37	5	180052973	180052973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:180052973G>T	ENST00000261937.6	-	10	1395	c.1317C>A	c.(1315-1317)agC>agA	p.S439R	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.S439R|FLT4_ENST00000393347.3_Missense_Mutation_p.S439R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	439	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.S439R(2)|p.S249R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCCTGGCGGCTGTGACGCG	0.657000													53	67					1.39924e-13	2.11258e-13	0.003610	1	0
PIWIL1	9271	broad.mit.edu	37	12	130839197	130839197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:130839197G>T	ENST00000245255.3	+	10	1432	c.1160G>T	c.(1159-1161)tGc>tTc	p.C387F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	387	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.C387F(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCTGAGCTCTGCTATCTTACA	0.532000													48	62					1.51926e-22	2.52481e-22	0.003610	1	0
MARS2	92935	broad.mit.edu	37	2	198571774	198571774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:198571774G>T	ENST00000282276.6	+	1	1688	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	549					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G549*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GAGGAGTCTTGGAGAGCTCTA	0.527000													73	172					5.43229e-20	8.86826e-20	0.003610	1	0
ITGAX	3687	broad.mit.edu	37	16	31374029	31374029	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr16:31374029G>C	ENST00000268296.4	+	12	1435	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q438H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	438					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Q438H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTTCACCCAGGTGTCCAGGC	0.657000													23	37					0	0	0.002299	0	0
CCDC129	223075	broad.mit.edu	37	7	31617846	31617846	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:31617846A>G	ENST00000409210.1	+	6	876	c.692A>G	c.(691-693)gAt>gGt	p.D231G	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.D323G|CCDC129_ENST00000451887.2_Missense_Mutation_p.D349G			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	323								p.D323G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGTGATGATTTGCTACCT	0.507000													16	46					0	0	0.003163	0	0
VSIG4	11326	broad.mit.edu	37	X	65242213	65242213	+	Silent	SNP	T	T	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrX:65242213T>C	ENST00000374737.4	-	8	1200	c.1092A>G	c.(1090-1092)ggA>ggG	p.G364G	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.G270G	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	364					complement activation, alternative pathway	integral to membrane	protein binding	p.G364G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTACTCCTGTCCTATGCAGG	0.537000													18	40					0	0	0.006122	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:4550923A>T	ENST00000586582.1	-	11	1319	c.1009T>A	c.(1009-1011)Tgc>Agc	p.C337S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627000													12	62					0	0	0.001368	0	0
BTAF1	9044	broad.mit.edu	37	10	93773549	93773549	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:93773549T>A	ENST00000265990.6	+	31	4745	c.4437T>A	c.(4435-4437)agT>agA	p.S1479R	BTAF1_ENST00000544642.1_Missense_Mutation_p.S307R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1479					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.S1479R(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGCTCCAGTCGAGAGCAAG	0.363000													13	67					0	0	0.001368	0	0
C4BPA	722	broad.mit.edu	37	1	207297525	207297525	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:207297525A>T	ENST00000367070.3	+	6	714	c.520A>T	c.(520-522)Aag>Tag	p.K174*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	174	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.K174*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTCAGTTGTCAAGTGTAAGCC	0.438000													23	134					0	0	0.002780	0	0
EPC2	26122	broad.mit.edu	37	2	149542324	149542324	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:149542324A>T	ENST00000258484.6	+	13	2139	c.2105A>T	c.(2104-2106)cAc>cTc	p.H702L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	702					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.H702L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACAGTTGGCCACACCACTACA	0.443000													23	59					0	0	0.003330	0	0
RYR1	6261	broad.mit.edu	37	19	38996576	38996576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:38996576A>T	ENST00000355481.4	+	54	8662	c.8531A>T	c.(8530-8532)cAa>cTa	p.Q2844L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q2844L|RYR1_ENST00000359596.3_Missense_Mutation_p.Q2844L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2844	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q2844L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGATATCACAAAGTGCCCAG	0.592000													22	46					0	0	0.001882	0	0
PLIN2	123	broad.mit.edu	37	9	19119764	19119764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr9:19119764C>A	ENST00000276914.2	-	6	840	c.661G>T	c.(661-663)Gga>Tga	p.G221*	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	221					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.G221*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GACAGGGATCCCAGTCTAACA	0.413000													65	165					1.98135e-44	3.60388e-44	0.003610	1	0
UGT2A1	10941	broad.mit.edu	37	4	70455270	70455270	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr4:70455270G>T	ENST00000503640.1	-	6	1459	c.1404C>A	c.(1402-1404)caC>caA	p.H468Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.H634Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.H424Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.H477Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.H468Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	468					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGCTCCTTTGTGGCGCATGA	0.488000													20	117					1.64113e-05	1.97965e-05	0.001523	1	0
TTN	7273	broad.mit.edu	37	2	179424886	179424886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:179424886G>C	ENST00000589042.1	-	326	86197	c.85973C>G	c.(85972-85974)cCc>cGc	p.P28658R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26090R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19785R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27017R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19718R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19593R|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27017	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26090R(1)|p.P19785R(1)|p.P19718R(1)|p.P19593R(1)|p.P26088R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAATTTTGGGTTTGGATGG	0.453000													23	65					0	0	0.002299	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183029	147183029	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:147183029G>T	ENST00000361727.3	+	11	2189	c.1673G>T	c.(1672-1674)tGt>tTt	p.C558F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	558	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C558F(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTGACAGATGTGTGCCCAAT	0.453000										HNSCC(39;0.1)			40	78					4.74526e-06	5.84616e-06	0.006230	1	0
MUC5B	727897	broad.mit.edu	37	11	1264265	1264265	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr11:1264265C>T	ENST00000447027.1	+	31	6222	c.6164C>T	c.(6163-6165)cCa>cTa	p.P2055L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2052L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2052	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAAAGTGCCAACTACCACA	0.642000													6	21					0	0	0.001368	0	0
C6orf58	352999	broad.mit.edu	37	6	127898618	127898618	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr6:127898618G>T	ENST00000329722.7	+	1	300	c.288G>T	c.(286-288)tgG>tgT	p.W96C	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	96						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGTATGGCTGGCAATATAGGA	0.363000													12	60					0.000308642	0.000358273	0.003163	1	0
CYP4F8	11283	broad.mit.edu	37	19	15740149	15740149	+	RNA	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:15740149G>T	ENST00000441682.2	+	0	1605							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.R514L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTTGGCTGCGAGTAGAACCC	0.587000													8	13					0.00448238	0.00501419	0.004482	1	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													2	1					0	0	0.004672	0	0
OR4E2	26686	broad.mit.edu	37	14	22133769	22133769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:22133769G>T	ENST00000408935.1	+	1	473	c.473G>T	c.(472-474)gGg>gTg	p.G158V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCACTAGGGCAGACCTTC	0.483000													29	139					0.000227799	0.000266438	0.008361	1	0
NR5A2	2494	broad.mit.edu	37	1	200089966	200089966	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:200089966G>A	ENST00000367362.3	+	7	1507	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NR5A2_ENST00000544748.1_Missense_Mutation_p.G349R|NR5A2_ENST00000236914.3_Missense_Mutation_p.G375R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	421	Lipid binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCACAAGCCGGAGCCACCCT	0.418000													6	117					0	0	0.001168	0	0
COL24A1	255631	broad.mit.edu	37	1	86590593	86590594	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:86590593_86590594insA	ENST00000370571.2	-	3	1791_1792	c.1425_1426insT	c.(1423-1428)taaggafs	p.*G475fs	COL24A1_ENST00000436319.1_Frame_Shift_Ins_p.*G475fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	475	Poly-Tyr.				cell adhesion	collagen	extracellular matrix structural constituent	p.E476K(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTAGATCCTCATAATAATAAT	0.337													9	46	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149916177	149916177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:149916177delC	ENST00000369135.3	-	12	2405	c.2111delG	c.(2110-2112)gcfs	p.G705fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	705					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGACTCCGCCCCCAGACGG	0.652													22	133	---	---	---	---					
NBPF18P	441908	broad.mit.edu	37	1	151979782	151979782	+	RNA	DEL	G	G	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr1:151979782delG	ENST00000432386.1	+	0	190					NR_103561.1																						ttcctttcTTGACCACTCTGC	0.428													2	4	---	---	---	---					
RPL21P71	729962	broad.mit.edu	37	3	146994747	146994748	+	RNA	INS	-	-	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr3:146994747_146994748insA	ENST00000473299.1	-	0	132																											ATGCTTTTGGCATTGTTGTAAA	0.401													8	14	---	---	---	---					
KIAA0947	23379	broad.mit.edu	37	5	5457835	5457836	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:5457835_5457836insA	ENST00000296564.7	+	12	1304_1305	c.1082_1083insA	c.(1081-1083)tccfs	p.S361fs		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	361	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCGGGTTCCTTACCGTCTTCAT	0.465													44	480	---	---	---	---					
RNF14	9604	broad.mit.edu	37	5	141359874	141359875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr5:141359874_141359875insG	ENST00000394520.2	+	6	1330_1331	c.1021_1022insG	c.(1021-1023)gttfs	p.V341fs	RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Frame_Shift_Ins_p.V165fs|RNF14_ENST00000394514.2_Frame_Shift_Ins_p.V215fs|RNF14_ENST00000394519.1_Frame_Shift_Ins_p.V341fs|RNF14_ENST00000356143.1_Frame_Shift_Ins_p.V341fs|RNF14_ENST00000347642.3_Frame_Shift_Ins_p.V341fs	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	341					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TACTTTGTGCAGGTTGACCTAC	0.550													35	149	---	---	---	---					
LOC101928451	101928451	broad.mit.edu	37	7	128210235	128210236	+	RNA	DEL	TT	TT	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr7:128210235_128210236delTT	ENST00000605862.1	+	0	189																											gttttagttcttTTTTTTTTTT	0.441													3	3	---	---	---	---					
A2M	2	broad.mit.edu	37	12	9243052	9243052	+	Frame_Shift_Del	DEL	G	G	-	rs61730082		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr12:9243052delG	ENST00000318602.7	-	20	2803	c.2496delC	c.(2494-2496)ccfs	p.P832fs		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	832					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTAGGAAGGCGGGAGAGGCTT	0.527													10	118	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755451	45755452	+	RNA	INS	-	-	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:45755451_45755452insT	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							caccaccaccacaccatcacca	0.584													3	3	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													5	3	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	46000381	46000381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr17:46000381delC	ENST00000376741.4	+	4	1250	c.1113delC	c.(1111-1113)agfs	p.S371fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	371					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCCAGGACAGCCCCCCAGCAA	0.582													23	208	---	---	---	---					
RP11-157P23.2	0	broad.mit.edu	37	18	45036744	45036749	+	RNA	DEL	TTGTTG	TTGTTG	-	rs72026512		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr18:45036744_45036749delTTGTTG	ENST00000565127.1	+	0	68																											GCTCAGgtttttgttgttgttgttgt	0.437													4	4	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9067777	9067777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:9067777delC	ENST00000397910.4	-	3	19872	c.19669delG	c.(19669-19671)cafs	p.A6557fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6559	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						GCCACAGATGCCAGCATATCT	0.473													29	50	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920427	49920427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr19:49920427delG	ENST00000447857.3	+	19	1656	c.1451delG	c.(1450-1452)cgfs	p.R484fs		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	484						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGCGCGGCGGGAACTCCAG	0.632													10	15	---	---	---	---					
POTEH	23784	broad.mit.edu	37	22	16287590	16287590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chr22:16287590delC	ENST00000343518.6	-	1	347	c.296delG	c.(295-297)gcfs	p.G99fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	99										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCACCACTTGCCCATCTTGCT	0.602													26	134	---	---	---	---					
MAGEA3	4102	broad.mit.edu	37	X	151935230	151935230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrX:151935230delC	ENST00000393902.3	-	3	1504	c.937delG	c.(937-939)aafs	p.E314fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.E314fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	314										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCCCCTCTCTC	0.572													41	261	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	ac9e4488-8a5a-4961-b466-4e5c6647800c	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													3	5	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149916177	149916177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:149916177delC	ENST00000369135.3	-	12	2405	c.2111delG	c.(2110-2112)gcfs	p.G705fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	705					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGACTCCGCCCCCAGACGG	0.652													22	133	---	---	---	---					
NBPF18P	441908	broad.mit.edu	37	1	151979782	151979782	+	RNA	DEL	G	G	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:151979782delG	ENST00000432386.1	+	0	190					NR_103561.1																						ttcctttcTTGACCACTCTGC	0.428													2	4	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													10	105	---	---	---	---					
AC018685.1	0	broad.mit.edu	37	2	2647860	2647862	+	RNA	DEL	ACA	ACA	-	rs74961645		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr2:2647860_2647862delACA	ENST00000414065.1	-	0	135																											ccaccgcaacacaacatcacaac	0.502													2	4	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													4	7	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													2	4	---	---	---	---					
RPL21P71	729962	broad.mit.edu	37	3	146994747	146994748	+	RNA	INS	-	-	A			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:146994747_146994748insA	ENST00000473299.1	-	0	132																											ATGCTTTTGGCATTGTTGTAAA	0.401													8	14	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													7	19	---	---	---	---					
RNF14	9604	broad.mit.edu	37	5	141359874	141359875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr5:141359874_141359875insG	ENST00000394520.2	+	6	1330_1331	c.1021_1022insG	c.(1021-1023)gttfs	p.V341fs	RNF14_ENST00000394515.3_Frame_Shift_Ins_p.V165fs|RNF14_ENST00000394514.2_Frame_Shift_Ins_p.V215fs|RNF14_ENST00000356143.1_Frame_Shift_Ins_p.V341fs|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Frame_Shift_Ins_p.V341fs|RNF14_ENST00000347642.3_Frame_Shift_Ins_p.V341fs	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	341					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TACTTTGTGCAGGTTGACCTAC	0.550													35	149	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													9	59	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522386	144522387	+	In_Frame_Ins	INS	-	-	GAG	rs35759992	byFrequency	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr8:144522386_144522387insGAG	ENST00000262577.5	-	11	2670_2671	c.2639_2640insCTC	c.(2638-2640)ttc>tCTCtc	p.880_880F>SL		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	880	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGggaggggatgaggaggagga	0.649													12	19	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													5	10	---	---	---	---					
A2M	2	broad.mit.edu	37	12	9243052	9243052	+	Frame_Shift_Del	DEL	G	G	-	rs61730082		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:9243052delG	ENST00000318602.7	-	20	2803	c.2496delC	c.(2494-2496)ccfs	p.P832fs		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	832					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTAGGAAGGCGGGAGAGGCTT	0.527													10	118	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aag>aa	p.NK230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													9	1000	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													13	303	---	---	---	---					
GEMIN2	8487	broad.mit.edu	37	14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-660)gtgfs	p.V220fs	GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs|GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	220					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GCTTTATTGGCTTGTCTTGAAA	0.351													16	682	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	40	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9067777	9067777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:9067777delC	ENST00000397910.4	-	3	19872	c.19669delG	c.(19669-19671)cafs	p.A6557fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6559	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						GCCACAGATGCCAGCATATCT	0.473													29	50	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	43099292	43099293	+	RNA	DEL	AC	AC	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:43099292_43099293delAC	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						cactatgcagacacacacacac	0.520													2	4	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920427	49920427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr19:49920427delG	ENST00000447857.3	+	19	1656	c.1451delG	c.(1450-1452)cgfs	p.R484fs		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	484						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGCGCGGCGGGAACTCCAG	0.632													10	15	---	---	---	---					
POTEH	23784	broad.mit.edu	37	22	16287590	16287590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:16287590delC	ENST00000343518.6	-	1	347	c.296delG	c.(295-297)gcfs	p.G99fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	99										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCACCACTTGCCCATCTTGCT	0.602													26	134	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													4	9	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-55-1595-01A-01D-0969-08	TCGA-55-1595-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1be8e08-5201-49bb-abf7-cedc0eff06d6	f03c5909-0e10-488a-a75b-4ec7b33e18b8	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													3	5	---	---	---	---					
