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
KLHDC3	116138	broad.mit.edu	37	6	42987063	42987063	+	Silent	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:42987063T>A	ENST00000326974.4	+	10	1236	c.1041T>A	c.(1039-1041)atT>atA	p.I347I	KLHDC3_ENST00000332245.8_Silent_p.I288I|KLHDC3_ENST00000244670.8_Silent_p.I213I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	347					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGCCGTGATTCAGTATAACC	0.502000													63	157					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29784070	29784070	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:29784070G>T	ENST00000375398.2	-	21	4154	c.3705C>A	c.(3703-3705)ccC>ccA	p.P1235P	SVIL_ENST00000355867.4_Silent_p.P1235P|SVIL_ENST00000375400.3_Silent_p.P809P|SVIL_ENST00000538146.1_Silent_p.P27P|SVIL_ENST00000535393.1_Silent_p.P149P			O95425	SVIL_HUMAN	supervillin	1235			P -> A (in dbSNP:rs2368406).		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)				TACCGCAAATGGGTGAGGCTA	0.557000													5	58					0.014758	0.0158628	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53652569	53652569	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:53652569T>A	ENST00000452676.2	-	3	493	c.67A>T	c.(67-69)Aca>Tca	p.T23S	ZNF347_ENST00000334197.7_Missense_Mutation_p.T23S|ZNF347_ENST00000601469.2_Missense_Mutation_p.T23S|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCAGGCATGTCCACTCCTCC	0.488000													22	79					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017812	87017812	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:87017812A>T	ENST00000398399.2	-	3	1228	c.865T>A	c.(865-867)Tct>Act	p.S289T	VGLL3_ENST00000383698.3_Missense_Mutation_p.S289T	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAGGTAGCAGAGGTGACTGTA	0.522000													3	41					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765394	141765394	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:141765394T>C	ENST00000475668.2	+	39	4679	c.4625T>C	c.(4624-4626)aTg>aCg	p.M1542T	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1542	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGGCATGATGGAGTTCAGC	0.532000													11	44					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753346	45753346	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:45753346C>A	ENST00000297323.7	+	20	3134	c.3112C>A	c.(3112-3114)Cga>Aga	p.R1038R		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1038	Interaction with calmodulin (By similarity).				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTTGTGTGCCGAGGCAAAGT	0.537000													45	80					1.06522e-23	2.11102e-23	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98834364	98834364	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:98834364C>A	ENST00000477737.1	+	14	2096	c.1892C>A	c.(1891-1893)aCc>aAc	p.T631N		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	631	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTATTTATACCATCTCCTTC	0.398000													9	17					1.12685e-05	1.41741e-05	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53629547	53629547	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:53629547C>A	ENST00000342160.3	-	27	3406	c.2949G>T	c.(2947-2949)acG>acT	p.T983T	HUWE1_ENST00000262854.6_Silent_p.T983T|HUWE1_ENST00000218328.8_Silent_p.T983T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	983					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGCCCTGGGTCGTACCTGCCT	0.398000													5	15					0.184627	0.186589	1	1	0
LEPREL1	55214	broad.mit.edu	37	3	189711925	189711925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:189711925C>A	ENST00000319332.5	-	3	978	c.781G>T	c.(781-783)Gag>Tag	p.E261*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.E80*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	261					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTAAATACTCATATTCTTCA	0.363000													3	32					0.115264	0.118856	1	1	0
CDK12	51755	broad.mit.edu	37	17	37667793	37667793	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:37667793C>G	ENST00000447079.4	+	8	2711	c.2678C>G	c.(2677-2679)aCa>aGa	p.T893R	CDK12_ENST00000430627.2_Missense_Mutation_p.T893R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	893	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGCCCTTACACAAACAAAGTC	0.393000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	32					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36215321	36215321	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:36215321C>A	ENST00000251195.5	-	11	2216	c.2120G>T	c.(2119-2121)gGc>gTc	p.G707V	CLSPN_ENST00000373220.3_Missense_Mutation_p.G643V|CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000318121.3_Missense_Mutation_p.G707V			Q9HAW4	CLSPN_HUMAN	claspin	707					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTGCCTTGCCAATTTCACT	0.378000													9	10					0.307466	0.308683	1	1	0
RGS1	5996	broad.mit.edu	37	1	192548325	192548325	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:192548325C>A	ENST00000367459.3	+	5	569	c.503C>A	c.(502-504)cCc>cAc	p.P168H		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	168	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GCACCAACCCCCACGTGTTTT	0.333000													17	35					1.67942e-08	2.49616e-08	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32635031	32635031	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:32635031C>A	ENST00000242310.4	-	1	636	c.547G>T	c.(547-549)Gac>Tac	p.D183Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	183					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGATGATGTCTTCTCCACTT	0.478000													21	50					2.4624e-09	3.76282e-09	1	1	0
ZG16B	124220	broad.mit.edu	37	16	2880741	2880741	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:2880741C>T	ENST00000382280.3	+	3	286	c.207C>T	c.(205-207)gaC>gaT	p.D69D	ZG16B_ENST00000572863.1_Silent_p.D39D	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	69						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CCACTGAAGACTACGACCATG	0.542000													25	108					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138252366	138252366	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:138252366G>A	ENST00000343526.4	+	10	1886	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.Q523Q			O15164	TIF1A_HUMAN	tripartite motif containing 24	557					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACCCCCTACAGATGGCTTTCT	0.408000													7	62					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	39					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018794	51018794	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:51018794G>T	ENST00000406938.2	-	6	946	c.729C>A	c.(727-729)atC>atA	p.I243I	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	243					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TACCTTCCTGGATGTCATTGT	0.552000													29	84					2.12542e-12	3.58634e-12	1	1	0
OR56A3	390083	broad.mit.edu	37	11	5968663	5968663	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:5968663C>A	ENST00000329564.6	+	1	94	c.87C>A	c.(85-87)caC>caA	p.H29Q		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCAGCACTGGCTGTCCC	0.552000													16	78					6.72482e-11	1.0982e-10	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54163421	54163421	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:54163421C>A	ENST00000265572.3	-	2	474	c.177G>T	c.(175-177)ccG>ccT	p.P59P	OPRK1_ENST00000520287.1_Silent_p.P59P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	59					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGATGATGACCGGGATGGCCG	0.687000													13	55					4.36969e-10	6.92778e-10	1	1	0
ZNF280C	55609	broad.mit.edu	37	X	129343687	129343687	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:129343687G>T	ENST00000370978.4	-	16	2135	c.1982C>A	c.(1981-1983)tCt>tAt	p.S661Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTTGCTATGAGAGCTGGAGAA	0.303000													11	88					0.0931896	0.0971469	1	1	0
CCDC105	126402	broad.mit.edu	37	19	15132729	15132729	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:15132729C>A	ENST00000292574.3	+	6	1331	c.1249C>A	c.(1249-1251)Cag>Aag	p.Q417K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	417					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCGCCTCGCACAGGTAAACCC	0.622000													24	19					1.9806e-07	2.74542e-07	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308685	248308685	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248308685C>A	ENST00000366476.1	+	1	236	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TCTACCGTACCCAAGATGGCC	0.502000													79	268					1.39921e-30	2.94958e-30	1	1	0
DIRC1	116093	broad.mit.edu	37	2	189599587	189599587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:189599587C>A	ENST00000308100.4	-	2	331	c.61G>T	c.(61-63)Gga>Tga	p.G21*	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	21										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TTCTTGCTTCCGTGGTCTGTG	0.532000													22	66					2.32416e-17	4.39971e-17	1	1	0
KHDC3L	154288	broad.mit.edu	37	6	74073515	74073515	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:74073515G>A	ENST00000370367.3	+	3	639	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GCGATCCCCCGAAGCTGCCAG	0.647000													7	79					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75823384	75823384	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:75823384C>A	ENST00000322507.8	-	50	8083	c.7774G>T	c.(7774-7776)Gac>Tac	p.D2592Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2592Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2592Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1428Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2592	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCAAAAGGGTCACTGGGAGTT	0.388000													9	28					0.010729	0.0116474	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959872	117959872	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:117959872G>T	ENST00000310164.2	+	4	1172	c.665G>T	c.(664-666)tGg>tTg	p.W222L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAAGAGGATTGGGATGATGCT	0.488000													12	77					0.0809354	0.0846041	1	1	0
ASIC1	41	broad.mit.edu	37	12	50452666	50452666	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:50452666G>C	ENST00000228468.4	+	2	502	c.117G>C	c.(115-117)ctG>ctC	p.L39L	ASIC1_ENST00000447966.2_Silent_p.L39L	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	39					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACGAGCGGCTGTCTCTGAAGC	0.647000													31	49					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71535040	71535040	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:71535040C>A	ENST00000370920.3	-	8	990	c.689G>T	c.(688-690)cGt>cTt	p.R230L	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R230L	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	230	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACTTCTTGAACGGGACCTGGA	0.408000													10	38					9.70103e-10	1.5128e-09	1	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181651	128181651	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:128181651C>T	ENST00000469083.1	-	2	2995	c.438G>A	c.(436-438)gaG>gaA	p.E146E	DNAJB8_ENST00000319153.3_Silent_p.E146E			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	146					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATGAGAAGGCCTCCATGAAGG	0.622000													11	73					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921569	247921569	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:247921569G>T	ENST00000408896.2	-	1	413	c.140C>A	c.(139-141)gCg>gAg	p.A47E		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCAATCGTCGCAATGATGAG	0.493000													8	15					1.04858e-14	1.91359e-14	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13247787	13247787	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:13247787G>A	ENST00000319217.7	-	3	277	c.30C>T	c.(28-30)gcC>gcT	p.A10A	MPDZ_ENST00000381022.2_Silent_p.A10A|MPDZ_ENST00000536827.1_Silent_p.A10A|MPDZ_ENST00000447879.1_Silent_p.A10A|MPDZ_ENST00000546205.1_Silent_p.A10A|MPDZ_ENST00000381015.4_Silent_p.A10A|MPDZ_ENST00000541718.1_Silent_p.A10A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	10	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGCATGCAGGGCCCGATTTT	0.473000													36	212					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840432	27840432	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:27840432A>T	ENST00000356790.2	+	3	1254	c.1009A>T	c.(1009-1011)Aag>Tag	p.K337*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	337										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGCACGTTCCAAGGTTAAGTC	0.498000													13	27					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848447	48848447	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:48848447T>A	ENST00000314191.2	-	13	1348	c.1292A>T	c.(1291-1293)tAt>tTt	p.Y431F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y431F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	431					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AACTGGAGTATACACCTCAGG	0.428000								Non-homologous end-joining					3	34					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873605	91873605	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:91873605C>T	ENST00000373094.1	+	7	4555	c.3710C>T	c.(3709-3711)tCa>tTa	p.S1237L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1200L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1219L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1229L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1200L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1227L|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1237					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGCCCACCATCAGCACAGGCC	0.582000													41	184					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112462696	112462696	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:112462696C>G	ENST00000230538.7	-	21	3074	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E886Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E886Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E886Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	893	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCATATACTCTTTTTTGGCC	0.328000													3	22					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127982955	127982955	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:127982955A>T	ENST00000373538.3	+	5	812	c.502A>T	c.(502-504)Acg>Tcg	p.T168S	RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.T168S|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.T117S	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	168					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CGTGCAGGACACGAAGCTGCA	0.542000													14	34					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868030	23868030	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:23868030C>T	ENST00000405093.3	-	15	1868	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	MYH6_ENST00000356287.3_Missense_Mutation_p.D600N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	600	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGAGAGGATCCTTGTTTTTT	0.552000													23	62					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154360788	154360788	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:154360788T>A	ENST00000414028.2	+	1	159	c.109T>A	c.(109-111)Tta>Ata	p.L37I	OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000452687.2_Missense_Mutation_p.L37I|OPRM1_ENST00000524163.1_Missense_Mutation_p.L37I|OPRM1_ENST00000435918.2_Missense_Mutation_p.L37I|OPRM1_ENST00000428397.2_Missense_Mutation_p.L37I|OPRM1_ENST00000229768.5_Missense_Mutation_p.L37I|OPRM1_ENST00000330432.7_Missense_Mutation_p.L37I|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000337049.4_Missense_Mutation_p.L37I|OPRM1_ENST00000360422.4_Missense_Mutation_p.L37I|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Missense_Mutation_p.L37I|OPRM1_ENST00000434900.2_Missense_Mutation_p.L130I	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	37					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CTTGTCCCACTTAGATGGCAA	0.647000													18	41					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1280366	1280366	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:1280366G>C	ENST00000310581.5	-	4	1914	c.1857C>G	c.(1855-1857)tcC>tcG	p.S619S	TERT_ENST00000296820.5_Silent_p.S619S|TERT_ENST00000508104.2_Silent_p.S619S|TERT_ENST00000334602.6_Silent_p.S619S	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	619	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)			AGCGGAGTCTGGACGTCAGCA	0.617000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				17	155					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195393	92195393	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:92195393C>G	ENST00000212355.4	-	6	1171	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	TGFBR3_ENST00000370399.2_Missense_Mutation_p.E236Q|TGFBR3_ENST00000525962.1_Missense_Mutation_p.E236Q|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	236					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTGATTAGCTCGATGATGTGT	0.473000													11	68					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342867	101342867	+	Splice_Site	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:101342867C>T	ENST00000344327.3	-	8	2630		c.e8+1		TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000348423.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGAGATTATACCTCAATTTCC	0.363000													10	32					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465346	48465346	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:48465346C>A	ENST00000358536.4	-	3	944	c.675G>T	c.(673-675)ggG>ggT	p.G225G	PLXNB1_ENST00000456774.1_Silent_p.G225G|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Silent_p.G225G|PLXNB1_ENST00000358459.4_Silent_p.G225G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	225	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCGCTGGCCCCACGTGCAA	0.612000													10	29					0.00621372	0.0068531	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961216	34961216	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:34961216C>A	ENST00000329357.5	+	1	304	c.268C>A	c.(268-270)Cgc>Agc	p.R90S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	90										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGCTGACCGCAAAAGCAG	0.532000													26	156					4.26978e-12	7.15705e-12	1	1	0
KDM2A	22992	broad.mit.edu	37	11	67018026	67018026	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:67018026C>T	ENST00000529006.2	+	17	2971	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	KDM2A_ENST00000308783.5_Missense_Mutation_p.A300V|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.A403V	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACTGCCCAGCCCGAACCCCC	0.657000													14	40					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397403	69397403	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:69397403C>A	ENST00000303714.4	+	14	1393	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P	ANTXR1_ENST00000409349.3_Silent_p.P357P	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	357					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCCTCCACCCCCTGCCGAGG	0.557000									Familial Infantile Hemangioma				15	47					1.15088e-07	1.60113e-07	1	1	0
POLR2H	5437	broad.mit.edu	37	3	184081331	184081331	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:184081331G>A	ENST00000456318.1	+	2	1100	c.51G>A	c.(49-51)ccG>ccA	p.P17P	POLR2H_ENST00000443489.1_5'UTR|POLR2H_ENST00000296223.3_Silent_p.P17P|POLR2H_ENST00000429568.1_Silent_p.P17P|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_Silent_p.P17P|POLR2H_ENST00000438240.1_Intron|POLR2H_ENST00000452961.1_5'UTR	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	17					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATATTGACCCGGAGGGCAAGA	0.587000											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106734657	106734657	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:106734657A>T	ENST00000299045.3	+	9	1370	c.1196A>T	c.(1195-1197)gAg>gTg	p.E399V		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	399										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACTTGTGTTGAGGTTAACAAG	0.363000													7	30					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281833	152281833	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152281833G>T	ENST00000368799.1	-	3	5564	c.5529C>A	c.(5527-5529)caC>caA	p.H1843Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1843	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGTGGCTGTGATGAGACC	0.537000									Ichthyosis				70	1516					7.88023e-25	1.59068e-24	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54910681	54910681	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:54910681G>T	ENST00000293373.6	+	11	1079	c.998_splice	c.e11-1	p.G334_splice	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Splice_Site_p.G284_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	334					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTCCTTAGTGGCCAGTTTCA	0.502000													14	36					0.000219431	0.000261736	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85400512	85400512	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:85400512C>A	ENST00000258888.5	+	6	3316	c.3149C>A	c.(3148-3150)cCg>cAg	p.P1050Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1050					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGGGAGTGCCGTGTATGGAT	0.642000													7	24					2.0095e-06	2.62303e-06	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133496	22133496	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:22133496C>T	ENST00000408935.1	+	1	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGCAATCTGTCCTTTATTGAC	0.418000													21	160					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651988	248651988	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248651988G>T	ENST00000366473.2	+	1	104	c.99G>T	c.(97-99)gtG>gtT	p.V33V		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TACTTAGTGTGGTCATCTTTG	0.488000													7	90					6.40141e-05	7.7695e-05	1	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356393	22356393	+	RNA	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:22356393G>C	ENST00000390437.2	+	0	156																											TTTTCACAGGGGTTTGGAGCC	0.502000													7	26					0	0	1	0	0
NXT2	55916	broad.mit.edu	37	X	108780217	108780217	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:108780217C>A	ENST00000218004.1	+	2	249	c.147C>A	c.(145-147)caC>caA	p.H49Q	NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGCCAGAACACACTGCTACAA	0.622000													5	35					0.000602214	0.000699672	1	1	0
SSU72	29101	broad.mit.edu	37	1	1500000	1500000	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:1500000C>A	ENST00000359060.4	-	2	403	c.377G>T	c.(376-378)cGt>cTt	p.R126L	SSU72_ENST00000291386.3_Intron			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	0					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACGATCCGACGTGCACCAGG	0.602000													12	49					6.40141e-05	7.7695e-05	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130218636	130218636	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:130218636C>T	ENST00000276211.5	+	6	1130	c.785C>T	c.(784-786)tCc>tTc	p.S262F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S126F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S250F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	262	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S262Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTGAATACTCCGTGCAGCGA	0.473000													17	88					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264946	50264946	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:50264946C>A	ENST00000284509.6	-	13	1217	c.1076G>T	c.(1075-1077)tGg>tTg	p.W359L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.W359L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	359					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTCCGGTCCCAGTTTATAAA	0.393000													3	19					0.115264	0.118856	1	1	0
PPBP	5473	broad.mit.edu	37	4	74853242	74853242	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:74853242G>T	ENST00000296028.3	-	2	369	c.276C>A	c.(274-276)gtC>gtA	p.V92V		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	92					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACATCACTTCGACTTGGTTGC	0.443000													14	31					9.31168e-06	1.18103e-05	1	1	0
BPI	671	broad.mit.edu	37	20	36932746	36932746	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:36932746C>A	ENST00000262865.4	+	1	222	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	45					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAGAAGGGCCTGGACTACGG	0.627000													25	60					3.01185e-09	4.57488e-09	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107691370	107691370	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:107691370C>A	ENST00000370067.1	+	2	782	c.155C>A	c.(154-156)cCg>cAg	p.P52Q	NTNG1_ENST00000542803.1_Missense_Mutation_p.P52Q|NTNG1_ENST00000370061.3_Missense_Mutation_p.P52Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.P52Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.P52Q|NTNG1_ENST00000370068.1_Missense_Mutation_p.P52Q|NTNG1_ENST00000370070.2_Missense_Mutation_p.P52Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.P52Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.P52Q|NTNG1_ENST00000370073.2_Missense_Mutation_p.P52Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.P52Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	52	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCCTGCCAGCCGGAATCCACG	0.473000													11	59					3.86212e-05	4.7481e-05	1	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185425	32185425	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:32185425C>T	ENST00000329621.4	-	1	145	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	38	12 X 2 AA repeats of G-[YCGS].					intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						AGCCATAGCCCACTGGAGAGT	0.577000													20	95					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47678552	47678552	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:47678552C>A	ENST00000283303.2	+	4	488	c.230C>A	c.(229-231)aCa>aAa	p.T77K	GPR115_ENST00000371220.1_Missense_Mutation_p.T134K|GPR115_ENST00000327753.3_Missense_Mutation_p.T77K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	77					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATAGGATTTACATGTAATCAA	0.368000													13	44					0.00136819	0.00155171	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:20692418C>A	ENST00000315519.2	+	1	628	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507000													8	26					5.18039e-06	6.69317e-06	1	1	0
SLAMF7	57823	broad.mit.edu	37	1	160722020	160722020	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:160722020T>A	ENST00000359331.4	+	5	825	c.814T>A	c.(814-816)Tgt>Agt	p.C272S	SLAMF7_ENST00000458104.2_Missense_Mutation_p.C125S|SLAMF7_ENST00000458602.2_Silent_p.T159T|SLAMF7_ENST00000444090.2_Missense_Mutation_p.C141S|SLAMF7_ENST00000368042.3_Silent_p.T199T|SLAMF7_ENST00000368043.3_Silent_p.T306T|SLAMF7_ENST00000441662.2_Silent_p.T175T			Q9NQ25	SLAF7_HUMAN	SLAM family member 7	0					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTACTCCACTGTGGAAATAC	0.358000													10	18					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847372	47847372	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:47847372C>T	ENST00000339488.4	-	3	1241	c.1208G>A	c.(1207-1209)aGc>aAc	p.S403N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	403						integral to membrane	hedgehog receptor activity										GCAAAAGATGCTGTGGTAGCG	0.463000													11	35					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48837343	48837343	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:48837343C>T	ENST00000293261.3	-	7	1403	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	TMEM143_ENST00000377431.2_Missense_Mutation_p.D263N|TMEM143_ENST00000541566.1_Missense_Mutation_p.D253N|TMEM143_ENST00000435956.3_Missense_Mutation_p.D328N|TMEM143_ENST00000436660.2_Missense_Mutation_p.D298N	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	363						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GTGTGCTCGTCCTGCGCGCGC	0.701000											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122990394	122990394	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:122990394G>T	ENST00000309934.4	+	6	1645	c.749G>T	c.(748-750)gGc>gTc	p.G250V	SEC22A_ENST00000492595.1_Missense_Mutation_p.G250V|SEC22A_ENST00000481965.2_Missense_Mutation_p.A92S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TACTACACCGGCTGGCGGAAT	0.343000													9	37					3.09899e-07	4.23398e-07	1	1	0
TAF1	6872	broad.mit.edu	37	X	70608161	70608161	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:70608161C>A	ENST00000449580.1	+	16	2550	c.2499C>A	c.(2497-2499)gcC>gcA	p.A833A	TAF1_ENST00000423759.1_Silent_p.A854A|TAF1_ENST00000276072.3_Silent_p.A854A|TAF1_ENST00000373790.4_Silent_p.A833A			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	833					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAAAAAAGCCTTTCCTTCCC	0.433000													13	53					0.000151284	0.000181876	1	1	0
HCK	3055	broad.mit.edu	37	20	30686860	30686860	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:30686860T>A	ENST00000534862.1	+	13	1603	c.1240T>A	c.(1240-1242)Ttc>Atc	p.F414I	HCK_ENST00000538448.1_Missense_Mutation_p.F413I|HCK_ENST00000518730.1_Missense_Mutation_p.F412I|HCK_ENST00000375862.2_Missense_Mutation_p.F433I|HCK_ENST00000375852.2_Missense_Mutation_p.F434I|HCK_ENST00000520553.1_Missense_Mutation_p.F413I	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	434	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTTGGCTCCTTCACCATCAA	0.567000													47	103					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143036376	143036376	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:143036376C>A	ENST00000343257.2	+	13	1519	c.1432C>A	c.(1432-1434)Ccc>Acc	p.P478T		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	478					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CACCACTATGCCCATACCCTG	0.498000													17	150					2.48551e-13	4.32831e-13	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985087	140985087	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:140985087G>T	ENST00000298296.1	+	7	1543	c.1543G>T	c.(1543-1545)Gat>Tat	p.D515Y	MAGEC3_ENST00000544766.1_Missense_Mutation_p.D217Y|MAGEC3_ENST00000409007.1_Missense_Mutation_p.D217Y|MAGEC3_ENST00000536088.1_Missense_Mutation_p.D217Y|MAGEC3_ENST00000443323.2_Missense_Mutation_p.D137Y	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	515	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCTGACTGATATGGACCC	0.458000													17	118					8.00594e-06	1.02395e-05	1	1	0
CTPS2	56474	broad.mit.edu	37	X	16707680	16707680	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:16707680C>A	ENST00000443824.1	-	8	1508	c.765G>T	c.(763-765)gtG>gtT	p.V255V	CTPS2_ENST00000380241.3_Silent_p.V255V|CTPS2_ENST00000359276.4_Silent_p.V255V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	255					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCTCTAAAAGCACAGGAACTC	0.388000													13	49					1.5842e-08	2.35925e-08	1	1	0
FLNC	2318	broad.mit.edu	37	7	128478095	128478095	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:128478095C>A	ENST00000325888.8	+	6	1285	c.1024C>A	c.(1024-1026)Ccc>Acc	p.P342T	FLNC_ENST00000346177.6_Missense_Mutation_p.P342T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	342					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCCTATGTGCCCAAGGTCGC	0.547000													4	70					0.000602214	0.000699672	1	1	0
SMR3A	26952	broad.mit.edu	37	4	71232458	71232458	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:71232458C>A	ENST00000226460.4	+	3	248	c.152C>A	c.(151-153)cCa>cAa	p.P51Q		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	51	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGATTTGTTCCACCACCCCAT	0.572000													14	108					1.55469e-16	2.90693e-16	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115168389	115168389	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:115168389C>T	ENST00000393274.1	-	4	842	c.217G>A	c.(217-219)Gta>Ata	p.V73I	DENND2C_ENST00000393277.1_Missense_Mutation_p.V73I|DENND2C_ENST00000393276.3_Missense_Mutation_p.V73I	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	73										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCTGGTTACATCCAAGTTT	0.363000													7	62					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170448	58170448	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:58170448G>T	ENST00000309403.2	-	1	434	c.435C>A	c.(433-435)ggC>ggA	p.G145G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAGGTAGGAGCCTATGGCCA	0.483000													20	57					2.39187e-15	4.37552e-15	1	1	0
EOGT	285203	broad.mit.edu	37	3	69026885	69026885	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:69026885T>A	ENST00000383701.3	-	18	2210	c.1468A>T	c.(1468-1470)Aag>Tag	p.K490*	EOGT_ENST00000295571.5_Nonsense_Mutation_p.K406*|EOGT_ENST00000540764.1_Nonsense_Mutation_p.K389*|EOGT_ENST00000540955.1_Nonsense_Mutation_p.K214*	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		TTGGTGAACTTCGGGTGCTCC	0.443000													3	26					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85460559	85460559	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:85460559T>G	ENST00000393217.2	+	10	2639	c.2578T>G	c.(2578-2580)Ttg>Gtg	p.L860V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	860										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGTGAAAATTTGGAAAATCT	0.299000													3	8					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097565	11097565	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:11097565G>T	ENST00000470054.1	-	0	304									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)		CCATCTTcaggctccaacctc	0.537000													5	72					0.000602214	0.000699672	1	1	0
RGP1	9827	broad.mit.edu	37	9	35751270	35751270	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:35751270G>T	ENST00000378078.4	+	6	636	c.495G>T	c.(493-495)caG>caT	p.Q165H	RGP1_ENST00000456972.2_Missense_Mutation_p.Q205H	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	165										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGCCTTCAGGATGTCCGGT	0.498000													62	162					2.32099e-22	4.57583e-22	1	1	0
BBX	56987	broad.mit.edu	37	3	107435617	107435617	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:107435617G>C	ENST00000415149.2	+	5	653	c.326G>C	c.(325-327)gGt>gCt	p.G109A	BBX_ENST00000406780.1_Missense_Mutation_p.G109A|BBX_ENST00000402543.1_Missense_Mutation_p.G109A|BBX_ENST00000325805.8_Missense_Mutation_p.G109A|BBX_ENST00000416476.2_Missense_Mutation_p.G109A	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATAACCGAGGTGCTACCAAG	0.478000													21	68					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358347	124358347	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:124358347G>T	ENST00000338354.3	+	26	3120	c.3014G>T	c.(3013-3015)cGa>cTa	p.R1005L	DMBT1_ENST00000344338.3_Missense_Mutation_p.R995L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.R506L|DMBT1_ENST00000368956.2_Missense_Mutation_p.R506L|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1005L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R995L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1005	SRCR 8.				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			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)				TGTCAGGGCCGAGTGGAGGTC	0.567000													63	359					2.18419e-29	4.59164e-29	1	1	0
LRRC19	64922	broad.mit.edu	37	9	26999679	26999679	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:26999679C>T	ENST00000380055.5	-	2	124	c.14G>A	c.(13-15)gGc>gAc	p.G5D	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	5						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GATTGTGATGCCTGTGACTTT	0.294000													3	11					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947837	237947837	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:237947837C>A	ENST00000366574.2	+	90	13142	c.12825C>A	c.(12823-12825)acC>acA	p.T4275T	RYR2_ENST00000542537.1_Silent_p.T4259T|RYR2_ENST00000360064.6_Silent_p.T4281T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4275					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAGATGACCGTGAAGGACA	0.473000													7	27					0.00198382	0.00222996	1	1	0
MS4A2	2206	broad.mit.edu	37	11	59861480	59861480	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:59861480G>A	ENST00000278888.3	+	6	683	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	194					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CTGGGACTTGGTAGTGCTGTG	0.413000													5	20					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821128	206821128	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:206821128G>T	ENST00000367106.1	+	4	998	c.525G>T	c.(523-525)ggG>ggT	p.G175G	DYRK3_ENST00000367109.2_Silent_p.G195G|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Silent_p.G175G			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	195					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGCAGATGGGGCCTATATTC	0.423000													15	82					1.5739e-10	2.52687e-10	1	1	0
TENM1	10178	broad.mit.edu	37	X	123556388	123556388	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:123556388C>G	ENST00000422452.2	-	24	4268	c.4205G>C	c.(4204-4206)cGt>cCt	p.R1402P	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.R1395P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GATCCGAACACGCCTGTTCTC	0.488000													25	115					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126223	58126223	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:58126223G>T	ENST00000357377.3	-	1	319	c.320C>A	c.(319-321)aCt>aAt	p.T107N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTTTCCACAGTGGCAAAGAC	0.478000													5	47					0.00116845	0.00133311	1	1	0
GFRAL	389400	broad.mit.edu	37	6	55223807	55223807	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:55223807T>A	ENST00000340465.2	+	6	909	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	275						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGTGATGACTGCAAAGCTGC	0.433000													41	57					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963063	128963063	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:128963063C>A	ENST00000357166.6	-	4	613	c.222G>T	c.(220-222)atG>atT	p.M74I	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.M74I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	74						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						AAAGGAAGAGCATGGCAGCAA	0.498000													15	66					1.02788e-11	1.71164e-11	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212426697	212426697	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:212426697C>T	ENST00000342788.4	-	20	2728	c.2418G>A	c.(2416-2418)gaG>gaA	p.E806E	ERBB4_ENST00000436443.1_Silent_p.E806E|ERBB4_ENST00000402597.1_Silent_p.E796E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	806	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGTGGACATACTCCAACAGGC	0.483000										TSP Lung(8;0.080)			6	70					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94048850	94048850	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:94048850C>A	ENST00000297268.6	+	34	2537	c.2066C>A	c.(2065-2067)gCc>gAc	p.A689D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	689			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCTGGAGCCACAGGTGAC	0.468000										HNSCC(75;0.22)			13	43					6.72482e-11	1.0982e-10	1	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568218	89568218	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:89568218G>T	ENST00000473726.1	-	0	45																											GCTGAGCAGGGACCCTCATGT	0.562000													9	61					6.94344e-10	1.08948e-09	1	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163935	161163935	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:161163935G>T	ENST00000367996.4	-	5	1766	c.1338C>A	c.(1336-1338)gaC>gaA	p.D446E		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	446	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCACTGGCGGTCAGCATCAT	0.612000													118	89					1.65916e-42	3.54669e-42	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11572536	11572536	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:11572536G>T	ENST00000262442.3	+	16	2955	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V963L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	963	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCATCTCTGGTGCCACGGCT	0.527000													28	55					1.68575e-08	2.5007e-08	1	1	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524986	70524986	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:70524986G>C	ENST00000538820.1	+	10	1274	c.934G>C	c.(934-936)Gat>Cat	p.D312H	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.D330H			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	330					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TGACGATTCAGATGATGATCT	0.522000													9	23					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158743766	158743766	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:158743766C>A	ENST00000231228.2	-	7	1369	c.914G>T	c.(913-915)aGc>aTc	p.S305I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	305	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGCTAATGCTGGCATTTTT	0.547000											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					2.54575e-18	4.84329e-18	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96603139	96603139	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:96603139C>A	ENST00000324765.8	+	24	3216	c.2869C>A	c.(2869-2871)Cag>Aag	p.Q957K	DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q957K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q957K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q957K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q953K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	957	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGCCCGAGAACAGTATGAAAA	0.363000													14	23					2.61681e-11	4.31973e-11	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131128298	131128298	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:131128298G>T	ENST00000352689.6	+	11	1272	c.1232G>T	c.(1231-1233)tGt>tTt	p.C411F	MKLN1_ENST00000421797.2_Missense_Mutation_p.C319F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	411					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTTTGACTTGTAATGGCAGC	0.398000													11	24					0.0931896	0.0971469	1	1	0
IGHV3-43	28426	broad.mit.edu	37	14	106926209	106926209	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:106926209G>T	ENST00000434710.1	-	0	412																											AGTAATACAAGGCGGTGTCCT	0.522000													8	139					0.0477658	0.0500685	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53418798	53418798	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:53418798C>A	ENST00000377942.3	-	3	3313	c.3110G>T	c.(3109-3111)cGt>cTt	p.R1037L	PCDH8_ENST00000338862.4_Missense_Mutation_p.R940L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1037					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCTCCCTGGACGGGGAGGGGA	0.587000													29	74					7.01153e-11	1.14256e-10	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861939	52861939	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:52861939C>A	ENST00000343457.3	-	4	1255	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	417						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TACGCGTTGTCCAGGCCAGGG	0.527000													11	127					5.50884e-06	7.05762e-06	1	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86556212	86556212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:86556212C>T	ENST00000450689.2	-	9	1295	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.W370*|KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.W203*|KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.W130*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	370						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TGGGCTCTATCCACTTGTACA	0.378000													4	38					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039883	153039883	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:153039883G>T	ENST00000538966.1	+	23	4027	c.3756G>T	c.(3754-3756)atG>atT	p.M1252I	PLXNB3_ENST00000538776.1_Missense_Mutation_p.M882I|PLXNB3_ENST00000361971.5_Missense_Mutation_p.M1229I|PLXNB3_ENST00000538282.1_Missense_Mutation_p.M839I	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1229					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	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)					AGGTGCAGATGGGCAATGTGC	0.697000													3	13					1	1	1	1	0
GALNTL6	442117	broad.mit.edu	37	4	173269745	173269745	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:173269745G>T	ENST00000506823.1	+	5	1115	c.458G>T	c.(457-459)tGg>tTg	p.W153L	GALNTL6_ENST00000508122.1_Missense_Mutation_p.W136L|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	153	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AATGAAGGTTGGACTTCACTC	0.433000													9	48					1.12685e-05	1.41741e-05	1	1	0
B9D2	80776	broad.mit.edu	37	19	41860617	41860617	+	Silent	SNP	G	G	A	rs141578342		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:41860617G>A	ENST00000243578.3	-	4	735	c.516C>T	c.(514-516)ggC>ggT	p.G172G	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	172					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						AGCACTCCACGCCGTAGCGGT	0.637000													4	62					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128754025	128754025	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:128754025C>A	ENST00000357702.5	-	11	1463	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	SAP130_ENST00000259234.6_Silent_p.R418R|SAP130_ENST00000259235.3_Silent_p.R444R	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	444					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTGGCTGGATCCGAGGAGAAG	0.532000													20	43					2.89027e-11	4.75053e-11	1	1	0
ZNF185	7739	broad.mit.edu	37	X	152101461	152101461	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:152101461C>T	ENST00000535861.1	+	14	1112	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	ZNF185_ENST00000318529.8_Missense_Mutation_p.T134M|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000449285.2_Missense_Mutation_p.T356M|ZNF185_ENST00000539731.1_Missense_Mutation_p.T326M|ZNF185_ENST00000370268.4_Missense_Mutation_p.T355M|ZNF185_ENST00000318504.7_Missense_Mutation_p.T296M|ZNF185_ENST00000370270.1_Intron	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	355						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCCGGAGCCACGGGCTCCCGG	0.562000													7	11					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279982	53279982	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:53279982G>T	ENST00000396435.3	-	5	1976	c.1776C>A	c.(1774-1776)ccC>ccA	p.P592P	IQSEC2_ENST00000375368.5_Silent_p.P582P|IQSEC2_ENST00000375365.2_Silent_p.P387P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	582	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGGTAAGCAGGGGAAGGTGGG	0.642000													9	30					3.09899e-07	4.23398e-07	1	1	0
GPR111	222611	broad.mit.edu	37	6	47650028	47650028	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:47650028C>A	ENST00000398742.2	+	5	1578	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N	GPR111_ENST00000296862.1_Missense_Mutation_p.T578N|GPR111_ENST00000507065.1_Missense_Mutation_p.T510N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	578					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCTGCCATCACTGTTGCTGCC	0.522000													12	75					7.03913e-09	1.06075e-08	1	1	0
PIGN	23556	broad.mit.edu	37	18	59763127	59763127	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:59763127T>A	ENST00000357637.5	-	23	2549	c.2134A>T	c.(2134-2136)Agc>Tgc	p.S712C	PIGN_ENST00000400334.3_Missense_Mutation_p.S712C	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	712					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGAAGTATGCTGAACAATCGC	0.363000													4	7					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153660668	153660668	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:153660668A>T	ENST00000369762.2	+	4	481	c.420A>T	c.(418-420)gcA>gcT	p.A140A	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	140					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					ACTGGTATGCAGTCAGCACTC	0.637000											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	51					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028854	37028854	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:37028854C>G	ENST00000358047.3	+	1	2423	c.2371C>G	c.(2371-2373)Ccc>Gcc	p.P791A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	791										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.632000													21	100					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74808872	74808872	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:74808872T>G	ENST00000290536.5	-	5	814	c.698A>C	c.(697-699)gAc>gCc	p.D233A	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.D233A|M1AP_ENST00000409585.1_Missense_Mutation_p.D233A	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTGTTCTTGGTCTGTTCCACT	0.393000													29	81					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67142658	67142658	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:67142658C>A	ENST00000502413.2	-	1	52		c.e1+1		SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron																							TTTTAACTCACCCTGGGAAAT	0.343000													4	16					0.00909568	0.0098883	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19685284	19685284	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:19685284C>A	ENST00000284885.3	-	18	2176	c.2143G>T	c.(2143-2145)Gtt>Ttt	p.V715F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	715	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGTTGACAAACATCATTTGAA	0.388000													15	57					1.15088e-07	1.60113e-07	1	1	0
CLDN17	26285	broad.mit.edu	37	21	31538715	31538715	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31538715G>T	ENST00000286808.3	-	1	256	c.221C>A	c.(220-222)cCg>cAg	p.P74Q		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	74					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CAGGGCAGGCGGGAGAGCCAA	0.562000													21	68					1.96292e-10	3.1382e-10	1	1	0
KCTD8	386617	broad.mit.edu	37	4	44450244	44450244	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:44450244G>A	ENST00000360029.3	-	1	580	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	99	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGTCCCGGTCGATGAAGAAGC	0.677000										HNSCC(17;0.042)			6	21					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917221	25917221	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:25917221G>T	ENST00000377850.3	-	7	1268	c.744C>A	c.(742-744)caC>caA	p.H248Q	SLC17A2_ENST00000360488.3_Missense_Mutation_p.H248Q|SLC17A2_ENST00000265425.3_Missense_Mutation_p.H248Q			O00624	NPT3_HUMAN	solute carrier family 17, member 2	248					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGGACAGGATGTGCTCCTTTT	0.542000													11	34					4.68919e-08	6.7457e-08	1	1	0
LCE1F	353137	broad.mit.edu	37	1	152748887	152748887	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152748887C>G	ENST00000334371.2	+	1	40	c.40C>G	c.(40-42)Ccc>Gcc	p.P14A		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	14	Pro-rich.				keratinization			p.P14T(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCccctcccaagtgcac	0.622000													17	200					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348224	7348224	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:7348224C>A	ENST00000486284.1	+	4	1192	c.918C>A	c.(916-918)ggC>ggA	p.G306G	GRM7_ENST00000357716.4_Silent_p.G306G|GRM7_ENST00000389336.4_Silent_p.G306G|GRM7_ENST00000403881.1_Silent_p.G306G|GRM7_ENST00000402647.2_Silent_p.G306G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	306					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACCAAGTTGGCCATTTTCTTT	0.468000													11	74					1.58986e-06	2.10415e-06	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207595	58207595	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:58207595G>C	ENST00000302572.2	-	1	51	c.30C>G	c.(28-30)ttC>ttG	p.F10L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCACAAGGATGAATTCAGTCA	0.453000													21	38					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784414	54784414	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:54784414G>C	ENST00000218436.6	-	8	2122	c.2093C>G	c.(2092-2094)tCa>tGa	p.S698*		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	698					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGTGGGCATTGACAGGGTATG	0.488000													8	82					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465660	70465660	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:70465660C>G	ENST00000373998.1	-	17	3379	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F	ZMYM3_ENST00000314425.5_Missense_Mutation_p.L906F|ZMYM3_ENST00000373988.1_Missense_Mutation_p.L908F|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.L906F|ZMYM3_ENST00000373984.3_Missense_Mutation_p.L908F	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	906					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGTGCTCTCCAAGGTAGTGG	0.542000													17	41					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4994981	4994981	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:4994981A>G	ENST00000318833.3	+	2	518	c.182A>G	c.(181-183)cAg>cGg	p.Q61R		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GTTATAGAGCAGATGTCTCCT	0.453000													4	33					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699015	68699015	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:68699015C>G	ENST00000283916.6	-	7	697	c.599G>C	c.(598-600)tGg>tCg	p.W200S	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.W83S|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	200	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGACTTGCCACGGCCAGCT	0.542000													33	112					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101830877	101830877	+	Missense_Mutation	SNP	G	G	A	rs141581682		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:101830877G>A	ENST00000375001.3	+	41	4301	c.3878G>A	c.(3877-3879)gGc>gAc	p.G1293D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1293	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				ATTTTTTCTGGCCACGGAGGT	0.378000													9	25					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146276454	146276454	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:146276454C>A	ENST00000367503.3	-	2	403	c.5G>T	c.(4-6)aGc>aTc	p.S2I	SHPRH_ENST00000367505.2_Missense_Mutation_p.S2I|SHPRH_ENST00000275233.7_Missense_Mutation_p.S2I|SHPRH_ENST00000438092.2_Missense_Mutation_p.S2I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	2					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTCGGCTGCTCATTTTCAA	0.433000													15	63					1.5739e-10	2.52687e-10	1	1	0
HMGCS1	3157	broad.mit.edu	37	5	43298925	43298925	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:43298925G>C	ENST00000325110.6	-	3	349	c.143C>G	c.(142-144)aCc>aGc	p.T48S	HMGCS1_ENST00000433297.2_Missense_Mutation_p.T48S	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	48					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CAAGCCAATGGTATACTTTCC	0.403000													56	73					0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152915684	152915684	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:152915684C>A	ENST00000342782.3	+	4	1344	c.1079C>A	c.(1078-1080)gCa>gAa	p.A360E	DUSP9_ENST00000370167.4_Missense_Mutation_p.A360E			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	360	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGCAGGCATCTGCGGCC	0.687000													16	162					1.52009e-12	2.58212e-12	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541659	133541659	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:133541659G>T	ENST00000409261.1	-	14	3098	c.2725C>A	c.(2725-2727)Ccc>Acc	p.P909T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P909T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	909							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCGTGGGGGGCTCTCCACTG	0.657000													22	41					7.87624e-14	1.41031e-13	1	1	0
HERC2P2	400322	broad.mit.edu	37	15	23300079	23300079	+	RNA	SNP	T	T	G	rs417713	by1000genomes	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:23300079T>G	ENST00000560464.1	-	0	4208																											GTGCTGCACGTTGACAGGCGT	0.607000													4	43					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360436	20360436	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:20360436A>T	ENST00000396134.2	-	4	409	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	UMOD_ENST00000570689.1_Missense_Mutation_p.C63S|UMOD_ENST00000424589.1_Missense_Mutation_p.C96S|UMOD_ENST00000396138.4_Missense_Mutation_p.C112S|UMOD_ENST00000396142.2_Missense_Mutation_p.C63S|UMOD_ENST00000302509.4_Missense_Mutation_p.C63S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	63	EGF-like 2; calcium-binding (Potential).		VCPEG -> AASC (in MCKD2).		cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTCCACGCAGGTCAGGCCA	0.617000													8	20					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566752	4566752	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:4566752C>A	ENST00000360213.1	+	1	332	c.332C>A	c.(331-333)aCt>aAt	p.T111N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTTTGCCACTGTTGAGTCA	0.512000													9	59					1.12685e-05	1.41741e-05	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858930	105858930	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:105858930C>G	ENST00000258456.1	+	1	731	c.615C>G	c.(613-615)ttC>ttG	p.F205L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	205						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCGTGTTCTTCGCGCCCTTTG	0.672000													8	38					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123197787	123197787	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:123197787T>A	ENST00000371160.1	+	20	2201	c.1911T>A	c.(1909-1911)caT>caA	p.H637Q	STAG2_ENST00000371157.3_Missense_Mutation_p.H637Q|STAG2_ENST00000218089.9_Missense_Mutation_p.H637Q|STAG2_ENST00000371144.3_Missense_Mutation_p.H637Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.H637Q|STAG2_ENST00000354548.5_Missense_Mutation_p.H568Q			Q8N3U4	STAG2_HUMAN	stromal antigen 2	637					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAACTTACCATGCACTCTGTA	0.368000													7	23					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157460	155157460	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:155157460G>A	ENST00000357232.3	-	25	6978	c.6979C>T	c.(6979-6981)Ctg>Ttg	p.L2327L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2327	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATAGGCAGATTTTCTGGA	0.398000													6	42					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981722	176981722	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:176981722T>A	ENST00000249501.4	+	1	416	c.161T>A	c.(160-162)cTc>cAc	p.L54H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	54						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGTGGACTGCTCCCGTCTCTG	0.493000													22	50					0	0	1	0	0
ARPP19	10776	broad.mit.edu	37	15	52849298	52849298	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:52849298C>A	ENST00000566423.1	-	3	300	c.168_splice	c.e3+1	p.G56_splice	ARPP19_ENST00000567669.1_Splice_Site_p.G56_splice|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000249822.4_Splice_Site_p.G56_splice|ARPP19_ENST00000563566.1_Splice_Site_p.G40_splice|ARPP19_ENST00000569281.2_Splice_Site_p.G56_splice|ARPP19_ENST00000561650.1_Splice_Site_p.G40_splice|ARPP19_ENST00000568196.1_Splice_Site_p.G40_splice|ARPP19_ENST00000561971.1_Splice_Site_p.G75_splice|ARPP19_ENST00000563277.1_Splice_Site_p.G40_splice|ARPP19_ENST00000564163.1_Splice_Site_p.G75_splice			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	56					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGAACTTACCCCTTTCTGCAA	0.398000													19	37					1.33834e-09	2.06169e-09	1	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691808	31691808	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31691808G>T	ENST00000360542.3	-	1	799	c.546C>A	c.(544-546)agC>agA	p.S182R		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	182						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTCTGAGGCTGCTGGACA	0.552000													25	224					1.64293e-13	2.88081e-13	1	1	0
IL10RA	3587	broad.mit.edu	37	11	117860281	117860281	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:117860281G>T	ENST00000227752.3	+	3	433	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.G85C|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	105						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCTGTGGACGGCAGCCGGCA	0.577000													22	44					5.26018e-13	9.05655e-13	1	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654781	31654781	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31654781C>A	ENST00000340345.4	-	1	495	c.470G>T	c.(469-471)tGc>tTc	p.C157F		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	157						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTTGGATAAGCAGTTAAGTTG	0.453000													24	90					9.57634e-11	1.55386e-10	1	1	0
ASIC2	40	broad.mit.edu	37	17	32483142	32483142	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:32483142A>G	ENST00000359872.6	-	1	1171	c.410T>C	c.(409-411)cTg>cCg	p.L137P		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	137					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTTCTGCCGCAGGGCCTCCAG	0.592000													53	126					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731974	73731974	+	Missense_Mutation	SNP	C	C	A	rs142367137		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:73731974C>A	ENST00000223398.6	+	2	425	c.98C>A	c.(97-99)gCg>gAg	p.A33E	CLIP2_ENST00000395060.1_Missense_Mutation_p.A33E|CLIP2_ENST00000361545.5_Missense_Mutation_p.A33E	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	33						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCCTCGGCGGCGGTGGCCGCT	0.657000													18	133					1.2644e-06	1.69106e-06	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5978452	5978452	+	Missense_Mutation	SNP	G	G	A	rs141977640	by1000genomes	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:5978452G>A	ENST00000379999.5	+	21	3120	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.V955I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V459I	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	955					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GACAAGCAACGTCTTAAAAAC	0.512000													17	88					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880389	101880389	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:101880389C>T	ENST00000551346.1	+	6	746	c.587C>T	c.(586-588)gCc>gTc	p.A196V	SPIC_ENST00000299272.5_Missense_Mutation_p.A196V			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TTCAGTGAGGCCATTCTCCAA	0.433000													14	39					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922393	104922393	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:104922393G>T	ENST00000507740.1	+	3	1316	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	RIMS2_ENST00000436393.2_Silent_p.T330T|RIMS2_ENST00000406091.3_Silent_p.T552T|RIMS2_ENST00000262231.10_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	630					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGATCATACGTCTTGGCATA	0.393000										HNSCC(12;0.0054)			13	60					0.00185496	0.00209751	1	1	0
BHLHE22	27319	broad.mit.edu	37	8	65494171	65494171	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:65494171C>T	ENST00000321870.1	+	1	1358	c.824C>T	c.(823-825)cCc>cTc	p.P275L	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	275	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCGCACAGCCCCTCGGTGCGA	0.667000													6	31					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453978	84453978	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:84453978G>A	ENST00000377084.2	-	1	2550	c.1665C>T	c.(1663-1665)gaC>gaT	p.D555D		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	555	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CACACTTGAGGTCGCTCATCA	0.542000													14	28					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780443	37780443	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:37780443C>T	ENST00000447769.1	+	4	737	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.L150L			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	150						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGGTACCCCTGGTTGTCTC	0.438000													32	134					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242683209	242683209	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:242683209G>T	ENST00000321264.4	+	5	872	c.663G>T	c.(661-663)ggG>ggT	p.G221G	D2HGDH_ENST00000537090.1_Silent_p.G221G|D2HGDH_ENST00000403782.1_Silent_p.G87G|D2HGDH_ENST00000342518.6_Silent_p.G221G	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	221	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CACTGCATGGGACTGTCCTGG	0.642000													7	5					2.0095e-06	2.62303e-06	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67031405	67031405	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:67031405G>A	ENST00000340001.4	-	8	1321	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	ABCA9_ENST00000370732.2_Silent_p.F370F|ABCA9_ENST00000453985.2_Silent_p.F370F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	370					transport	integral to membrane	ATP binding|ATPase activity			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)					TCCCAACAGTGAAGGCAAAGG	0.423000													6	25					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23792683	23792683	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:23792683A>T	ENST00000397276.2	+	4	645	c.632A>T	c.(631-633)cAt>cTt	p.H211L	PABPN1_ENST00000557702.1_Missense_Mutation_p.H83L|PABPN1_ENST00000216727.4_Missense_Mutation_p.H211L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.H238L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.H238L|PABPN1_ENST00000556821.1_Missense_Mutation_p.H83L					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTTAGTGGCCATCCCAAAGGG	0.388000													13	32					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79479155	79479155	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:79479155C>A	ENST00000575842.1	-	2	563	c.137G>T	c.(136-138)gGc>gTc	p.G46V	ACTG1_ENST00000331925.2_Missense_Mutation_p.G46V|ACTG1_ENST00000575087.1_Missense_Mutation_p.G46V|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46V			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTGGCCCATGCCCACCATGAC	0.672000													48	118					2.24722e-20	4.38496e-20	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30409368	30409368	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:30409368G>T	ENST00000333027.3	+	14	1669	c.1341G>T	c.(1339-1341)atG>atT	p.M447I	MTMR3_ENST00000406629.1_Missense_Mutation_p.M447I|MTMR3_ENST00000401950.2_Missense_Mutation_p.M447I|MTMR3_ENST00000323630.5_Missense_Mutation_p.M311I|MTMR3_ENST00000351488.3_Missense_Mutation_p.M447I|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	447	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCGTGGAAATGGAGTGGCTGG	0.517000													26	44					4.7796e-09	7.24557e-09	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111088631	111088631	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:111088631C>G	ENST00000360467.5	+	13	1048	c.742C>G	c.(742-744)Ccg>Gcg	p.P248A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	248	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGTAGGGCAGCCGGGACCCAA	0.473000													65	55					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036352	71036352	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:71036352G>A	ENST00000333538.5	+	6	1679	c.1045G>A	c.(1045-1047)Gta>Ata	p.V349I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	349	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCATGGATGTATACGGAGG	0.502000													4	78					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686553	125686553	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:125686553C>A	ENST00000371126.1	-	1	281	c.39G>T	c.(37-39)gcG>gcT	p.A13A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	13										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						CGACCGCGGGCGCTTTCCGTT	0.736000													19	75					9.95505e-16	1.83433e-15	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60183160	60183160	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:60183160C>A	ENST00000300187.6	+	5	996	c.719C>A	c.(718-720)tCt>tAt	p.S240Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.S273Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.S128Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.S223Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	240						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATCCTTCCATCTCCCAAATTT	0.388000													11	50					6.40141e-05	7.7695e-05	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36224535	36224535	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:36224535G>T	ENST00000222270.7	+	29	6997	c.6997G>T	c.(6997-6999)Ggg>Tgg	p.G2333W	WBP7_ENST00000420124.1_Missense_Mutation_p.G2333W|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CACAGTGCGTGGGGTCCTTGA	0.657000													5	4					0.184627	0.186589	1	1	0
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													4	8					0.00909568	0.0098883	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117389430	117389430	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:117389430G>C	ENST00000321322.6	-	7	1442	c.1441C>G	c.(1441-1443)Ccc>Gcc	p.P481A	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P211A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	421	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTCCCCGGGGTTGACCACC	0.672000													4	32					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770554	152770554	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152770554C>A	ENST00000326233.6	+	2	327	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	95	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCCAGCCCTCGGGGGGC	0.667000													20	341					8.34094e-07	1.11948e-06	1	1	0
NAA15	80155	broad.mit.edu	37	4	140282926	140282926	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:140282926A>T	ENST00000296543.5	+	14	1911	c.1588A>T	c.(1588-1590)Atg>Ttg	p.M530L	NAA15_ENST00000398947.1_Missense_Mutation_p.M530L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	530					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TACATACTGTATGAGGAAGAT	0.323000													8	19					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402304	248402304	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248402304C>A	ENST00000306687.1	+	1	74	c.74C>A	c.(73-75)aCc>aAc	p.T25N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCACCCACACCTTCCTTTTT	0.463000													19	70					4.96729e-08	7.10547e-08	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79090406	79090406	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:79090406T>A	ENST00000388820.4	-	3	716	c.506A>T	c.(505-507)gAc>gTc	p.D169V	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	169					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGGCACTGTCCAGGGGCTC	0.652000													28	51					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220835231	220835231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:220835231G>A	ENST00000402574.1	+	17	2663	c.1661G>A	c.(1660-1662)tGg>tAg	p.W554*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.W667*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.W704*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	704					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGGTTCACATGGAGTATGAAG	0.418000													4	27					0	0	1	0	0
IDI1	3422	broad.mit.edu	37	10	1088655	1088655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:1088655C>A	ENST00000381344.3	-	4	620	c.454G>T	c.(454-456)Gag>Tag	p.E152*	IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	95	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCCTCAAGCTCGGCTGGATTG	0.468000													12	85					0.00136819	0.00155171	1	1	0
SLC12A9	56996	broad.mit.edu	37	7	100457640	100457640	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:100457640G>T	ENST00000354161.3	+	8	1236	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A282S|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A371S|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A371S|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A282S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	371						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATCCTCCATGCCCTGGCCCG	0.637000													40	128					1.15183e-24	2.31278e-24	1	1	0
ARSH	347527	broad.mit.edu	37	X	2951417	2951417	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:2951417G>T	ENST00000381130.2	+	9	1680	c.1680G>T	c.(1678-1680)atG>atT	p.M560I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	560						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCTTCCCATGGCTCCCTGAG	0.502000													6	16					2.0095e-06	2.62303e-06	1	1	0
MYEOV	26579	broad.mit.edu	37	11	69063637	69063637	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:69063637C>A	ENST00000535407.1	+	2	1189	c.546C>A	c.(544-546)caC>caA	p.H182Q	MYEOV_ENST00000441339.2_Missense_Mutation_p.H240Q|MYEOV_ENST00000308946.3_Missense_Mutation_p.H240Q			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	240										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGACCCTCCACCGGCACCCCA	0.667000													33	66					1.99505e-19	3.83393e-19	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979278	58979278	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:58979278T>C	ENST00000361050.3	-	1	1146	c.1061A>G	c.(1060-1062)aAt>aGt	p.N354S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	354						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTTGGGAGAATTGAGATCTGT	0.498000													10	79					0	0	1	0	0
RLN2	6019	broad.mit.edu	37	9	5300202	5300202	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:5300202C>A	ENST00000381627.3	-	2	842	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	152					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GTATCCAAGCCTAAGTATTTT	0.358000													7	44					8.12818e-05	9.78726e-05	1	1	0
HBS1L	10767	broad.mit.edu	37	6	135360766	135360766	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:135360766C>T	ENST00000367837.5	-	4	581	c.375G>A	c.(373-375)gtG>gtA	p.V125V	HBS1L_ENST00000367822.5_Silent_p.V125V|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367826.2_Silent_p.V83V|HBS1L_ENST00000314674.3_Silent_p.V125V|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000525067.1_Silent_p.V61V|HBS1L_ENST00000367820.2_Silent_p.V125V|HBS1L_ENST00000415177.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	125					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TCAAACTCTGCACTCTATCTT	0.383000													17	65					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833862	45833862	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:45833862G>T	ENST00000397928.1	+	20	3496	c.3051G>T	c.(3049-3051)agG>agT	p.R1017S	TRPM2_ENST00000300482.5_Missense_Mutation_p.R1017S|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1017S|TRPM2_ENST00000300481.9_Missense_Mutation_p.R997S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1017						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCAGCAGAGGCCGGCCTTCC	0.612000													60	369					5.86059e-21	1.15243e-20	1	1	0
GPR124	25960	broad.mit.edu	37	8	37687014	37687014	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:37687014C>G	ENST00000315215.7	+	5	854	c.491C>G	c.(490-492)tCt>tGt	p.S164C	GPR124_ENST00000412232.2_Missense_Mutation_p.S164C			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	164					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGAAACATATCTGGAAACATC	0.562000													5	60					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73942003	73942003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:73942003C>T	ENST00000358602.4	-	34	7873	c.7757G>A	c.(7756-7758)tGg>tAg	p.W2586*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.W2335*|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.W2473*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2586					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGTCCAGTCCACACCTATGA	0.363000													4	13					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35509091	35509091	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:35509091C>A	ENST00000217320.3	+	4	420	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	TLDC2_ENST00000602922.1_Missense_Mutation_p.L126I	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GGCTATCCGACTCAGCAAAGG	0.547000													25	50					6.12954e-19	1.17496e-18	1	1	0
FUT9	10690	broad.mit.edu	37	6	96651252	96651252	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:96651252G>T	ENST00000302103.5	+	3	547	c.221G>T	c.(220-222)gGg>gTg	p.G74V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	74					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGCCATTTGGGCAGACCTTT	0.433000													17	47					9.16793e-09	1.37338e-08	1	1	0
HPGD	3248	broad.mit.edu	37	4	175416775	175416775	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:175416775C>A	ENST00000296522.6	-	5	868	c.421_splice	c.e5-1	p.G141_splice	HPGD_ENST00000296521.7_Splice_Site_p.G141_splice|HPGD_ENST00000422112.2_Splice_Site_p.G73_splice|HPGD_ENST00000541923.1_Splice_Site_p.G20_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000510901.1_Splice_Site_p.G20_splice	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	141					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	GGGCATGAGTCCTGAAACAGA	0.378000													9	19					0.00621372	0.0068531	1	1	0
C4BPA	722	broad.mit.edu	37	1	207286463	207286463	+	Silent	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:207286463A>G	ENST00000367070.3	+	2	287	c.93A>G	c.(91-93)ccA>ccG	p.P31P		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	31					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTCTGATCCAATTCTCTTCC	0.483000													12	45					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59131997	59131997	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:59131997C>A	ENST00000313940.2	+	1	113	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAGATTTTCCCAGGATCATAA	0.428000													9	54					3.86212e-05	4.7481e-05	1	1	0
SSPO	23145	broad.mit.edu	37	7	149531022	149531022	+	RNA	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:149531022C>A	ENST00000378016.2	+	0	15551							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAACTGGGGGCCCATGACTTG	0.587000													6	11					2.0095e-06	2.62303e-06	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46455146	46455146	+	Missense_Mutation	SNP	T	T	A	rs143074080	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:46455146T>A	ENST00000458649.2	-	14	3272	c.2854A>T	c.(2854-2856)Atg>Ttg	p.M952L	AMBRA1_ENST00000298834.3_Missense_Mutation_p.M892L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.M923L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.M862L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.M923L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.M892L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.M833L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	952					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TATCTGCCCATTGGGGACAGG	0.542000													7	26					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281400	152281400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152281400C>A	ENST00000368799.1	-	3	5997	c.5962G>T	c.(5962-5964)Gga>Tga	p.G1988*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1988	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1988*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCCTGTCCACGAGAGGAA	0.577000									Ichthyosis				142	1645					1.356e-25	2.77397e-25	1	1	0
FAM217B	63939	broad.mit.edu	37	20	58519859	58519859	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:58519859A>T	ENST00000358293.3	+	5	1276	c.861A>T	c.(859-861)gaA>gaT	p.E287D	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.E287D	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	287																	AAACCCTTGAAATGAGGACAG	0.468000													30	38					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418904	48418904	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:48418904C>A	ENST00000376771.4	+	6	1949	c.1608C>A	c.(1606-1608)tcC>tcA	p.S536S	TBC1D25_ENST00000537536.1_Silent_p.S282S|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	536						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TTATCAGCTCCAAGTCCCTCT	0.592000													23	111					1.87028e-06	2.4667e-06	1	1	0
ASB9	140462	broad.mit.edu	37	X	15267024	15267024	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:15267024G>T	ENST00000546332.1	-	7	1085	c.602C>A	c.(601-603)tCc>tAc	p.S201Y	ASB9_ENST00000380483.3_Missense_Mutation_p.S191Y|ASB9_ENST00000380485.3_Missense_Mutation_p.S201Y|ASB9_ENST00000380488.4_Missense_Mutation_p.S201Y|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	201					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ATGAAGTGGGGAATCCTGACC	0.532000													23	80					7.87624e-14	1.41031e-13	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508151	106508151	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:106508151C>G	ENST00000359195.3	+	2	455	c.145C>G	c.(145-147)Cgc>Ggc	p.R49G	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R49G|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R49G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	49					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R49C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CACCAGCCAGCGCAAATGCAA	0.672000													24	61					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975878	76975878	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:76975878G>T	ENST00000409911.1	-	3	1942	c.1719C>A	c.(1717-1719)atC>atA	p.I573I	LRRTM4_ENST00000409884.1_Silent_p.I572I|LRRTM4_ENST00000409093.1_Silent_p.I572I	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	572						integral to membrane		p.I572I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGATGGTGGCGATGAAGCTGT	0.617000													31	153					2.85442e-18	5.41698e-18	1	1	0
BATF2	116071	broad.mit.edu	37	11	64757170	64757170	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:64757170T>C	ENST00000301887.4	-	3	386	c.256A>G	c.(256-258)Atg>Gtg	p.M86V	BATF2_ENST00000527716.1_Missense_Mutation_p.M62V|BATF2_ENST00000435842.2_Start_Codon_SNP_p.M1V	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	86						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCACAATCCATGGGGCACAGG	0.677000													24	53					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128778	248128778	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248128778C>A	ENST00000366480.3	+	1	244	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L49F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATTGCCACCCTCTTTACAGT	0.428000													20	104					8.10497e-08	1.14858e-07	1	1	0
FAM9A	171482	broad.mit.edu	37	X	8767095	8767095	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:8767095C>T	ENST00000543214.1	-	3	267	c.132G>A	c.(130-132)atG>atA	p.M44I	FAM9A_ENST00000381003.3_Missense_Mutation_p.M44I	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	44						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CCACGGGCTCCATGGTTGGCT	0.547000													12	38					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739175	62739175	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:62739175C>T	ENST00000371153.4	-	3	1979	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	534										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						CTCCTCCCTCCCTGCTGGGGG	0.592000													5	49					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744895	87744895	+	Silent	SNP	G	G	A	rs142581518		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:87744895G>A	ENST00000270583.5	-	9	1048	c.990C>T	c.(988-990)aaC>aaT	p.N330N	KLHDC4_ENST00000347925.5_Silent_p.N299N|KLHDC4_ENST00000353170.5_Silent_p.N273N|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	330										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGTACAGATCGTTGAAGAACT	0.582000													6	41					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44120530	44120530	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:44120530G>T	ENST00000420999.1	-	4	480	c.397C>A	c.(397-399)Cgt>Agt	p.R133S		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	133	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ATCCGATGACGCCGGATAGAA	0.413000													4	9					0.150653	0.153477	1	1	0
PPAT	5471	broad.mit.edu	37	4	57261564	57261564	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:57261564C>T	ENST00000264220.2	-	11	1645	c.1508G>A	c.(1507-1509)tGt>tAt	p.C503Y		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	503					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ACAAGCTGTACAATGACCACT	0.353000													3	31					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245704133	245704133	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:245704133G>T	ENST00000366518.4	+	2	192	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	KIF26B_ENST00000407071.2_Missense_Mutation_p.A411S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	411					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTCTTCCGCTGCCGAACCACC	0.522000													26	90					1.1804e-14	2.14387e-14	1	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691807	31691807	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31691807G>T	ENST00000360542.3	-	1	800	c.547C>A	c.(547-549)Ctc>Atc	p.L183I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	183						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGAGGTCTGAGGCTGCTGGAC	0.552000													25	223					1.64293e-13	2.88081e-13	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50212075	50212075	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:50212075G>A	ENST00000392518.4	+	14	1917	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	CPT1C_ENST00000323446.5_Silent_p.L515L|CPT1C_ENST00000598293.1_Silent_p.L515L|CPT1C_ENST00000405931.2_Silent_p.L504L|CPT1C_ENST00000354199.5_Silent_p.L515L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	515					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCAGCGGCTGCAATGGGACC	0.587000													23	92					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216021	20216021	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:20216021G>A	ENST00000331723.1	+	1	435	c.435G>A	c.(433-435)ttG>ttA	p.L145L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTTGGTTGGTTCTTGCCT	0.488000													15	68					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651345	8651345	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:8651345G>T	ENST00000270328.4	-	20	2679	c.2413C>A	c.(2413-2415)Cgg>Agg	p.R805R	ADAMTS10_ENST00000597188.1_Silent_p.R805R|ADAMTS10_ENST00000595838.1_Silent_p.R292R			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	805	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCTCGGTCCGGGCCAGCACC	0.642000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					3.41278e-10	5.43332e-10	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117131613	117131613	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:117131613C>A	ENST00000369486.3	-	8	2908	c.2143G>T	c.(2143-2145)Gtg>Ttg	p.V715L	IGSF3_ENST00000369483.1_Missense_Mutation_p.V735L|IGSF3_ENST00000318837.6_Missense_Mutation_p.V735L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	715	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TACCAGAGCACCGCAAAGTGG	0.537000													6	87					0.0293803	0.0310534	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46455144	46455144	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:46455144C>A	ENST00000458649.2	-	14	3274	c.2856G>T	c.(2854-2856)atG>atT	p.M952I	AMBRA1_ENST00000298834.3_Missense_Mutation_p.M892I|AMBRA1_ENST00000426438.1_Missense_Mutation_p.M923I|AMBRA1_ENST00000314845.3_Missense_Mutation_p.M862I|AMBRA1_ENST00000528950.1_Missense_Mutation_p.M923I|AMBRA1_ENST00000534300.1_Missense_Mutation_p.M892I|AMBRA1_ENST00000533727.1_Missense_Mutation_p.M833I			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	952					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATATCTGCCCATTGGGGACA	0.542000													7	26					1.06961e-07	1.5018e-07	1	1	0
FMOD	2331	broad.mit.edu	37	1	203316864	203316864	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:203316864T>A	ENST00000354955.4	-	2	998	c.535A>T	c.(535-537)Aga>Tga	p.R179*	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	179					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGAGCTCTCTCAGGGATCGA	0.597000													57	132					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768499	31768499	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:31768499C>A	ENST00000240587.4	-	2	2527	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	734					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCGGCCTTGCCCAGGTGAATG	0.607000													25	49					1.17739e-12	2.00896e-12	1	1	0
TRIM17	51127	broad.mit.edu	37	1	228602389	228602389	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:228602389G>T	ENST00000366697.2	-	1	1341	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	TRIM17_ENST00000295033.3_Missense_Mutation_p.L129M|TRIM17_ENST00000366698.2_Missense_Mutation_p.L129M|TRIM17_ENST00000456946.2_Missense_Mutation_p.L129M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	129					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACCCTGTGCAGCCGGTGCTCC	0.672000													29	89					9.39395e-14	1.66639e-13	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181479635	181479635	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:181479635G>T	ENST00000526775.1	+	2	454	c.289G>T	c.(289-291)Gcc>Tcc	p.A97S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A48S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A97S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A97S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A97S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A48S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	97					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATGATCCTGGCCACCATCAT	0.537000													5	30					0.184627	0.186589	1	1	0
CPS1	1373	broad.mit.edu	37	2	211441075	211441075	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:211441075C>A	ENST00000233072.5	+	3	438	c.242C>A	c.(241-243)cCa>cAa	p.P81Q	CPS1_ENST00000430249.2_Missense_Mutation_p.P87Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	81	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCAGGTACCCAGAAGCTATT	0.393000													12	49					5.50884e-06	7.05762e-06	1	1	0
FARS2	10667	broad.mit.edu	37	6	5369389	5369389	+	Missense_Mutation	SNP	G	G	T	rs150490093		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:5369389G>T	ENST00000324331.6	+	2	922	c.586G>T	c.(586-588)Gcc>Tcc	p.A196S	FARS2_ENST00000274680.4_Missense_Mutation_p.A196S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	196					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCAGCTGGAGGCCGTGCGGCT	0.522000													11	79					0.000673444	0.000776501	1	1	0
HTR7	3363	broad.mit.edu	37	10	92508918	92508918	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:92508918C>G	ENST00000371721.3	-	2	1215	c.973G>C	c.(973-975)Gca>Cca	p.A325P	HTR7_ENST00000277874.6_Missense_Mutation_p.A325P|HTR7_ENST00000371719.2_Missense_Mutation_p.A325P|HTR7_ENST00000336152.3_Missense_Mutation_p.A325P			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	325					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTGGTGGCTGCTTTCTGTTCT	0.522000													23	31					0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133553951	133553951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:133553951C>A	ENST00000253008.2	+	4	666	c.606C>A	c.(604-606)taC>taA	p.Y202*		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	202	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGGTGTGGTACGGAAACTCAC	0.597000													13	62					1.5842e-08	2.35925e-08	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	3919740	3919740	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:3919740C>A	ENST00000381638.2	-	49	8146	c.8022G>T	c.(8020-8022)caG>caT	p.Q2674H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2674							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTCGGCAGCCCTGGAGCACTT	0.577000													21	49					7.45023e-12	1.24607e-11	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139158277	139158277	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:139158277G>C	ENST00000395297.1	-	15	3635	c.3465C>G	c.(3463-3465)ctC>ctG	p.L1155L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1155								p.L1155L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCAGCCGGAGGTCTGCAC	0.438000										HNSCC(54;0.14)			8	37					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126049485	126049485	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:126049485T>A	ENST00000318410.7	-	26	3524	c.3175A>T	c.(3175-3177)Aat>Tat	p.N1059Y	KIAA0196_ENST00000517845.1_Missense_Mutation_p.N911Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1059					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTACCCAGATTTTTGTTGTAT	0.308000													10	23					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125115446	125115446	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:125115446G>T	ENST00000522917.1	+	39	5391	c.5185G>T	c.(5185-5187)Gat>Tat	p.D1729Y	FER1L6_ENST00000399018.1_Missense_Mutation_p.D1729Y|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1729						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAAGCCTGTGATCTTGCCAA	0.458000													23	123					5.26018e-13	9.05655e-13	1	1	0
RHAG	6005	broad.mit.edu	37	6	49587008	49587008	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:49587008A>T	ENST00000371175.4	-	2	251	c.225T>A	c.(223-225)taT>taA	p.Y75*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.Y75*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	75					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCTGAAGCCATATTTCTTCA	0.438000													8	53					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786760	35786760	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:35786760G>C	ENST00000361922.4	+	4	441	c.291G>C	c.(289-291)ctG>ctC	p.L97L	MAG_ENST00000392213.3_Silent_p.L97L|MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.L72L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	97	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTGGGCCTGCGAAACTGCA	0.647000													11	234					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418903	48418903	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:48418903C>A	ENST00000376771.4	+	6	1948	c.1607C>A	c.(1606-1608)tCc>tAc	p.S536Y	TBC1D25_ENST00000537536.1_Missense_Mutation_p.S282Y|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	536						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTTATCAGCTCCAAGTCCCTC	0.587000													22	108					1.2644e-06	1.69106e-06	1	1	0
AFM	173	broad.mit.edu	37	4	74351680	74351680	+	Silent	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:74351680T>C	ENST00000226355.3	+	4	465	c.372T>C	c.(370-372)tgT>tgC	p.C124C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	124	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGACTCTGTTTCTTCTATA	0.418000													4	40					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499155	36499155	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:36499155G>T	ENST00000342292.4	-	1	538	c.518C>A	c.(517-519)aCc>aAc	p.T173N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	173						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCAGGATGGTTTCCTCCCC	0.617000													11	107					4.68919e-08	6.7457e-08	1	1	0
ILDR1	286676	broad.mit.edu	37	3	121720293	121720293	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:121720293T>A	ENST00000273691.3	-	5	613	c.508A>T	c.(508-510)Aca>Tca	p.T170S	ILDR1_ENST00000462014.1_Missense_Mutation_p.T182S|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.T170S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	170						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AAGATCACTGTCAGCCAGTCT	0.522000													14	33					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697805	6697805	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:6697805C>A	ENST00000245907.6	-	20	2533	c.2440_splice	c.e20-1	p.G814_splice		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	814					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CACACAGATCCCTGCTCGGGC	0.582000													5	17					1.024e-07	1.44845e-07	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204438804	204438804	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:204438804C>A	ENST00000367187.3	-	3	683	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D43Y	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	43	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCCTCCTTGTCATGCCGGAGC	0.592000													14	54					0.00185496	0.00209751	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40540461	40540461	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:40540461C>G	ENST00000434248.1	-	5	2370	c.2305G>C	c.(2305-2307)Gtt>Ctt	p.V769L	ZNF780B_ENST00000221355.6_Missense_Mutation_p.V621L	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGGTTGAACAAGGTTTGAG	0.418000													10	33					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139103180	139103180	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:139103180C>A	ENST00000358701.5	-	11	1516	c.1479G>T	c.(1477-1479)tcG>tcT	p.S493S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	493	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGTTTTCACCGAGTCCATGG	0.542000													10	43					0.000442599	0.00051898	1	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417699	150417699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:150417699C>T	ENST00000307194.5	+	3	747	c.607C>T	c.(607-609)Cag>Tag	p.Q203*		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGTGGAGCAGCTGCTGGG	0.687000													13	23					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282096	152282096	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152282096C>T	ENST00000368799.1	-	3	5301	c.5266G>A	c.(5266-5268)Ggg>Agg	p.G1756R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1756	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTTCCCCTGACTGGCCA	0.602000									Ichthyosis				69	1188					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45818846	45818846	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:45818846C>T	ENST00000221476.3	-	4	532	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	120					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTCCAGGTCGTCTCCACCC	0.677000													16	26					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049334	36049334	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:36049334C>A	ENST00000379919.4	-	1	1498	c.942G>T	c.(940-942)cgG>cgT	p.R314R	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	314					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGGGACACCGCCGGCACTGCA	0.542000													42	51					1.57019e-19	3.02511e-19	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169267845	169267845	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:169267845C>A	ENST00000256935.8	+	27	2868	c.2788C>A	c.(2788-2790)Cac>Aac	p.H930N	DOCK2_ENST00000520908.1_Missense_Mutation_p.H422N|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	930					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGGGATCACATTCTGAT	0.458000													5	13					0.184627	0.186589	1	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560774	44560774	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:44560774C>T	ENST00000332567.4	-	1	1214	c.862G>A	c.(862-864)Gct>Act	p.A288T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	288					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCTGCCAGCTTGCCCCCCT	0.612000													50	179					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645631	45645631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:45645631C>A	ENST00000303230.4	-	2	562	c.505G>T	c.(505-507)Gag>Tag	p.E169*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	169						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.E169K(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						GTTGTTTGCTCTGTAAAGAAT	0.338000													11	31					0.000673444	0.000776501	1	1	0
DCX	1641	broad.mit.edu	37	X	110653473	110653473	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:110653473C>A	ENST00000338081.3	-	2	568	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	DCX_ENST00000356915.2_Missense_Mutation_p.A52S|DCX_ENST00000356220.3_Missense_Mutation_p.A52S|DCX_ENST00000488120.1_Missense_Mutation_p.A52S|DCX_ENST00000371993.2_Missense_Mutation_p.A52S|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	133					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCTTCTTGGCTTTCTTCTCA	0.557000													40	140					1.47244e-24	2.94876e-24	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382918	22382918	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:22382918G>T	ENST00000328795.4	+	1	537	c.446G>T	c.(445-447)tGg>tTg	p.W149L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGGCTCTGTGGCTTGGGGGT	0.532000													31	79					1.836e-18	3.50175e-18	1	1	0
KCNG4	93107	broad.mit.edu	37	16	84270899	84270899	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:84270899C>A	ENST00000568181.1	-	2	313	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L	KCNG4_ENST00000308251.4_Missense_Mutation_p.V65L			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	65						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTGCCCCCCACGTTGATCAGG	0.632000													5	52					0.184627	0.186589	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732729	152732729	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152732729G>T	ENST00000368773.1	+	2	723	c.665G>T	c.(664-666)cGg>cTg	p.R222L	KPRP_ENST00000606109.1_Missense_Mutation_p.R222L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	222						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582000													29	277					1.16021e-09	1.79455e-09	1	1	0
IFT140	9742	broad.mit.edu	37	16	1573549	1573549	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:1573549C>A	ENST00000426508.2	-	26	3786	c.3423G>T	c.(3421-3423)agG>agT	p.R1141S	IFT140_ENST00000361339.5_Missense_Mutation_p.R335S	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1141										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTCTACCGCCCTCTCGTACT	0.662000													5	44					0.014758	0.0158628	1	1	0
ZNF449	203523	broad.mit.edu	37	X	134494411	134494411	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:134494411C>A	ENST00000339249.4	+	5	1107	c.967C>A	c.(967-969)Cac>Aac	p.H323N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	323					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGAAACCTCACCGATGTCC	0.478000													15	43					0.00244969	0.00274958	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101829290	101829290	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:101829290G>T	ENST00000375001.3	+	40	4201	c.3778G>T	c.(3778-3780)Gat>Tat	p.D1260Y		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1260	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				CCATTTGCAAGATCTGTCCAC	0.458000													13	51					5.50884e-06	7.05762e-06	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366611	248366611	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248366611T>A	ENST00000456743.1	+	1	280	c.242T>A	c.(241-243)aTg>aAg	p.M81K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTACCCAAGATGGCCTTCAAC	0.517000													100	267					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6166831	6166831	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:6166831G>T	ENST00000262450.3	-	39	5686	c.5587C>A	c.(5587-5589)Cag>Aag	p.Q1863K	CHD5_ENST00000378021.1_Missense_Mutation_p.Q720K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1863					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCAGCTGGTTCAGGACT	0.667000													7	20					8.12818e-05	9.78726e-05	1	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654650	31654650	+	Missense_Mutation	SNP	G	G	T	rs113971656		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31654650G>T	ENST00000340345.4	-	1	626	c.601C>A	c.(601-603)Caa>Aaa	p.Q201K		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	201	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AAATAGCTTTGGGGTTGGCAG	0.418000													10	63					6.40141e-05	7.7695e-05	1	1	0
ARMCX6	54470	broad.mit.edu	37	X	100871220	100871220	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:100871220G>A	ENST00000539247.1	-	4	823	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ARMCX6_ENST00000361910.4_Missense_Mutation_p.L131F|ARMCX6_ENST00000538627.1_Missense_Mutation_p.L131F|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	131						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGAATGAAAAGACACTTGGAG	0.448000													38	109					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288728	11288728	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:11288728C>A	ENST00000361445.4	-	19	3103	c.3027G>T	c.(3025-3027)cgG>cgT	p.R1009R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1009					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TACTTACTTCCCGGATGGCCC	0.507000													8	42					0.000157383	0.00018802	1	1	0
GSX2	170825	broad.mit.edu	37	4	54967796	54967796	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:54967796G>T	ENST00000326902.2	+	2	936	c.622G>T	c.(622-624)Gcg>Tcg	p.A208S	GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	208						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GATGAGGACGGCGTTCACTAG	0.577000													5	81					0.014758	0.0158628	1	1	0
ADCY5	111	broad.mit.edu	37	3	123005630	123005630	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:123005630C>A	ENST00000462833.1	-	20	4771	c.3559G>T	c.(3559-3561)Ggg>Tgg	p.G1187W	ADCY5_ENST00000491190.1_Missense_Mutation_p.G845W|ADCY5_ENST00000309879.5_Missense_Mutation_p.G837W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1187	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTATCACCCCGGCCACCACG	0.617000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	56					7.48243e-07	1.00603e-06	1	1	0
TCOF1	6949	broad.mit.edu	37	5	149754297	149754297	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:149754297G>T	ENST00000451292.1	+	9	1309	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	TCOF1_ENST00000504761.2_Missense_Mutation_p.A401S|TCOF1_ENST00000445265.2_Missense_Mutation_p.A324S|TCOF1_ENST00000394269.3_Missense_Mutation_p.A401S|TCOF1_ENST00000323668.7_Missense_Mutation_p.A324S|TCOF1_ENST00000377797.3_Missense_Mutation_p.A401S|TCOF1_ENST00000513346.1_Missense_Mutation_p.A401S|TCOF1_ENST00000439160.2_Missense_Mutation_p.A401S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	401					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTGCCAAGGCCCAGGCGGG	0.682000													11	29					3.86212e-05	4.7481e-05	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22380974	22380974	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:22380974C>A	ENST00000263160.3	+	4	911	c.474C>A	c.(472-474)gcC>gcA	p.A158A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	158					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGGAGCTGCCATACTTCTTA	0.378000													3	19					0.115264	0.118856	1	1	0
FRMD6	122786	broad.mit.edu	37	14	52194666	52194666	+	Silent	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:52194666A>G	ENST00000395718.2	+	14	2049	c.1764A>G	c.(1762-1764)caA>caG	p.Q588Q	FRMD6_ENST00000356218.4_Silent_p.Q588Q|FRMD6_ENST00000554167.1_Silent_p.Q519Q|FRMD6_ENST00000553556.1_Silent_p.Q238Q|FRMD6_ENST00000344768.5_Silent_p.Q596Q	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	596						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TCAACATCCAAGATGCTTTTC	0.463000													6	42					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122964799	122964799	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:122964799A>T	ENST00000309934.4	+	4	1491	c.595A>T	c.(595-597)Agt>Tgt	p.S199C	SEC22A_ENST00000492595.1_Missense_Mutation_p.S199C|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	199					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ATTTATCCTTAGTCTTTTATG	0.403000													25	57					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601163	232601163	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:232601163C>A	ENST00000366630.1	-	8	2602		c.e8-1		SIPA1L2_ENST00000262861.4_Splice_Site			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACTCCAACACTGAGGAAGTA	0.388000													15	39					1.99824e-07	2.75481e-07	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169801180	169801180	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:169801180C>T	ENST00000263817.6	-	21	2669	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	849	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTCTGAGGTCATCAAACCAG	0.448000													10	59					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305546	46305546	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:46305546T>C	ENST00000510861.1	-	8	960	c.787A>G	c.(787-789)Atg>Gtg	p.M263V	GABRA2_ENST00000540012.1_Missense_Mutation_p.M208V|GABRA2_ENST00000507069.1_Missense_Mutation_p.M263V|GABRA2_ENST00000381620.4_Missense_Mutation_p.M263V|GABRA2_ENST00000515082.1_Missense_Mutation_p.M263V|GABRA2_ENST00000514090.1_Missense_Mutation_p.M263V|GABRA2_ENST00000356504.1_Missense_Mutation_p.M263V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	263					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGACAGTCATGATGCAAGGC	0.388000													12	27					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566665	55566665	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:55566665C>A	ENST00000373965.2	-	36	5123	c.4729G>T	c.(4729-4731)Ggg>Tgg	p.G1577W	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1574W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				TTAAAGGGCCCTCCCAGTCGA	0.458000										HNSCC(58;0.16)			47	77					1.19451e-25	2.4502e-25	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59854909	59854909	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:59854909A>T	ENST00000256858.6	+	1	419	c.171A>T	c.(169-171)ccA>ccT	p.P57P	KIAA1468_ENST00000398130.2_Silent_p.P57P			Q9P260	K1468_HUMAN	KIAA1468	57							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CGCTGTCGCCACAGGATCCCG	0.711000													13	66					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52384755	52384755	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:52384755T>C	ENST00000356297.4	-	8	904	c.804A>G	c.(802-804)atA>atG	p.I268M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I268M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	268	Ig-like C2-type 1.				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)				ACTTGTTGTGTATCCAAATAA	0.418000													25	56					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8167822	8167822	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:8167822A>G	ENST00000314666.6	+	17	2085	c.1952A>G	c.(1951-1953)cAg>cGg	p.Q651R	PFAS_ENST00000545834.1_Missense_Mutation_p.Q227R	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	651					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCATGCTGCAGCCTCTGGCC	0.642000													19	87					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227872	3227872	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:3227872G>T	ENST00000217939.6	-	7	8526	c.8372C>A	c.(8371-8373)cCc>cAc	p.P2791H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2791	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGATCCCTGGGGGTGAAGAAA	0.507000													6	57					0.0215528	0.0231335	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563269	140563269	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:140563269G>A	ENST00000361016.2	+	1	2290	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.G379W(1)|p.K380fs*14(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAAACAATGGGAAGACGAT	0.488000													21	56					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710479	152710479	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:152710479C>G	ENST00000330912.2	-	13	1960	c.410G>C	c.(409-411)cGc>cCc	p.R137P	TREX2_ENST00000393862.2_Missense_Mutation_p.R137P|TREX2_ENST00000334497.2_Missense_Mutation_p.R180P|TREX2_ENST00000370232.1_Missense_Mutation_p.R180P|TREX2_ENST00000402951.1_Missense_Mutation_p.R180P|TREX2_ENST00000370231.2_Missense_Mutation_p.R137P|TREX2_ENST00000414588.1_Missense_Mutation_p.R179P|TREX2_ENST00000338525.2_Missense_Mutation_p.R137P			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	180					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGGCAGGCGGGCACCCAG	0.716000								Editing and processing nucleases					3	5					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198682201	198682201	+	Splice_Site	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:198682201G>C	ENST00000367376.2	+	12	1456	c.1285_splice	c.e12+1	p.E429_splice	PTPRC_ENST00000594404.1_Splice_Site_p.E268_splice|PTPRC_ENST00000348564.6_Splice_Site_p.E270_splice|PTPRC_ENST00000442510.2_Splice_Site_p.E431_splice|PTPRC_ENST00000352140.3_Splice_Site_p.E381_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	429	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAAGAGACAGGTAATTTGTG	0.323000													3	36					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112945	59112945	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:59112945G>T	ENST00000395153.3	+	4	1640	c.1493G>T	c.(1492-1494)aGg>aTg	p.R498M	DACT1_ENST00000395151.3_Missense_Mutation_p.R254M|DACT1_ENST00000335867.4_Missense_Mutation_p.R535M|DACT1_ENST00000541264.2_Missense_Mutation_p.R254M|DACT1_ENST00000556859.1_Missense_Mutation_p.R254M	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	535					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGGAAGAGAGGCCTGCCTTG	0.602000													6	110					1.26484e-09	1.95243e-09	1	1	0
VASH2	79805	broad.mit.edu	37	1	213146093	213146093	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:213146093G>T	ENST00000366968.4	+	7	824	c.474G>T	c.(472-474)cgG>cgT	p.R158R	VASH2_ENST00000366967.2_Silent_p.R119R|VASH2_ENST00000517399.1_Silent_p.R223R|VASH2_ENST00000366964.3_Silent_p.R81R|VASH2_ENST00000366966.2_Silent_p.R158R|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Silent_p.R179R	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	223					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGACTTTTCGGACTCTGAGTG	0.512000													7	52					0.0293803	0.0310534	1	1	0
TBC1D2	55357	broad.mit.edu	37	9	100963926	100963926	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:100963926C>A	ENST00000375066.5	-	11	2383	c.2292G>T	c.(2290-2292)caG>caT	p.Q764H	TBC1D2_ENST00000375063.1_Missense_Mutation_p.Q304H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q546H|TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q764H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	764	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAGCAGGTCCTGGAGCACCC	0.647000													19	43					4.96729e-08	7.10547e-08	1	1	0
HSPBAP1	79663	broad.mit.edu	37	3	122478136	122478136	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:122478136C>T	ENST00000383659.1	-	4	626	c.504G>A	c.(502-504)ttG>ttA	p.L168L	HSPBAP1_ENST00000306103.2_Silent_p.L168L|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	168	Interaction with HSPB1 (By similarity).|JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGGCTCCCAAGGAGCCAA	0.453000													19	29					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89978866	89978866	+	Missense_Mutation	SNP	C	C	A	rs74923708	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:89978866C>A	ENST00000402938.3	-	4	509	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	GABRR2_ENST00000602399.1_Missense_Mutation_p.D151Y			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	151					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D126N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGCCGGCCATCGAAGGTCATG	0.527000													26	69					3.28513e-13	5.69472e-13	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55432657	55432657	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55432657C>T	ENST00000314259.3	+	1	44	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AAAATCAAAACAATGTGACTG	0.378000													7	49					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953027	119953027	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:119953027C>A	ENST00000307142.4	+	4	3293	c.3097C>A	c.(3097-3099)Cct>Act	p.P1033T	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P1033T|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P1033T	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1033						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTATACCTCTCCTCCTTCCTT	0.562000													11	55					0.000673444	0.000776501	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768133	31768133	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:31768133C>T	ENST00000240587.4	-	2	2893	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	856					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGTGGCTCTCTGTCAAGTTC	0.537000													19	100					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048755	9048755	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:9048755G>A	ENST00000397910.4	-	5	33079	c.32876C>T	c.(32875-32877)cCa>cTa	p.P10959L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10961	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						TGTGGTCTCTGGTTCACCAAG	0.498000													32	54					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67998346	67998346	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:67998346G>T	ENST00000262210.5	+	4	442		c.e4+1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1							centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCTTACTCAGGTAATGAGTTC	0.308000													10	29					7.48243e-07	1.00603e-06	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86919102	86919102	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:86919102G>C	ENST00000370565.4	+	13	2368	c.2206G>C	c.(2206-2208)Gag>Cag	p.E736Q	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	736					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAATGAGGAGGAGCGAAAGTG	0.453000													14	56					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971640	57971640	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:57971640C>A	ENST00000302592.6	-	1	13	c.14G>T	c.(13-15)tGt>tTt	p.C5F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAAAGGAACACAAAGTCTT	0.403000													4	37					0.00909568	0.0098883	1	1	0
CYB561A3	220002	broad.mit.edu	37	11	61120465	61120465	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:61120465G>A	ENST00000426130.2	-	6	1370	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.F180F|CYB561A3_ENST00000536915.1_Silent_p.F180F|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000447532.2_Silent_p.F180F	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		ACAAACTGAAGAAAAGCTTCT	0.512000													7	57					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79371405	79371405	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:79371405G>T	ENST00000264895.6	+	45	6815	c.6375G>T	c.(6373-6375)ggG>ggT	p.G2125G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2124					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGGTGCAGGGCGCCTGCAGA	0.488000													12	54					7.03913e-09	1.06075e-08	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37203335	37203335	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:37203335G>T	ENST00000536254.2	+	4	279	c.57G>T	c.(55-57)gaG>gaT	p.E19D	ZNF567_ENST00000585696.1_5'UTR|ZNF567_ENST00000588311.1_5'UTR|ZNF567_ENST00000360729.4_5'UTR|ZNF567_ENST00000392163.2_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCAGGAGGAGTGGCAGCACC	0.448000													3	26					0.00024832	0.000294348	1	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177444	89177444	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:89177444C>A	ENST00000561129.2	+	1	490	c.360C>A	c.(358-360)ccC>ccA	p.P120P	TGIF2LX_ENST00000283891.5_Silent_p.P120P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	120						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAAACGACCCCATCATTGGCC	0.532000													16	105					3.83957e-06	4.99472e-06	1	1	0
FAM20B	9917	broad.mit.edu	37	1	179013040	179013040	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:179013040A>T	ENST00000263733.4	+	2	394	c.58A>T	c.(58-60)Acc>Tcc	p.T20S		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	20						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TTTTATCTTCACCAAAGTTTT	0.493000													17	36					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114239702	114239702	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:114239702G>T	ENST00000357077.4	+	26	2879	c.2826G>T	c.(2824-2826)agG>agT	p.R942S	ANK2_ENST00000509550.1_Missense_Mutation_p.R151S|ANK2_ENST00000264366.6_Missense_Mutation_p.R942S|ANK2_ENST00000394537.3_Missense_Mutation_p.R942S|ANK2_ENST00000506722.1_Missense_Mutation_p.R921S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	942					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGCAGAAAGGAATTCTTATC	0.363000													4	9					0.014758	0.0158628	1	1	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776021	27776021	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:27776021C>G	ENST00000358739.3	+	1	123	c.34C>G	c.(34-36)Cgc>Ggc	p.R12G		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						AGGCAAAGCTCGCGCCAAGGC	0.552000													18	120					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	447382	447382	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:447382C>A	ENST00000256509.2	+	28	4305	c.3663C>A	c.(3661-3663)ccC>ccA	p.P1221P	CHL1_ENST00000397491.2_Silent_p.P1205P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1205					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAACTTTTCCCCTTCGGGCAT	0.418000													11	19					9.31168e-06	1.18103e-05	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33513459	33513459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:33513459G>T	ENST00000268876.5	+	20	2774	c.2677G>T	c.(2677-2679)Gag>Tag	p.E893*	UNC45B_ENST00000433649.1_Nonsense_Mutation_p.E891*|UNC45B_ENST00000591048.1_Nonsense_Mutation_p.E812*|UNC45B_ENST00000378449.1_Nonsense_Mutation_p.E812*|UNC45B_ENST00000394570.2_Nonsense_Mutation_p.E891*	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	893					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGCTGCTGGAGATCCTGAC	0.552000													24	50					1.10513e-12	1.8899e-12	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129037267	129037267	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:129037267G>T	ENST00000274487.4	+	20	3268	c.3123G>T	c.(3121-3123)gaG>gaT	p.E1041D	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1041	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCGTGTGGGAGGCGGGAGTGT	0.567000													14	47					1.5739e-10	2.52687e-10	1	1	0
CCDC11	220136	broad.mit.edu	37	18	47753828	47753828	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:47753828C>T	ENST00000398545.4	-	8	1585	c.1468G>A	c.(1468-1470)Gtc>Atc	p.V490I		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	490										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTGGACAGGACCTCCTGGACC	0.507000													19	53					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542324	133542324	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:133542324C>A	ENST00000409261.1	-	14	2433	c.2060G>T	c.(2059-2061)gGg>gTg	p.G687V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G687V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	687							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTGACAACCCCAGTCTGGTG	0.438000													4	77					0.000602214	0.000699672	1	1	0
USP51	158880	broad.mit.edu	37	X	55515098	55515098	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:55515098T>C	ENST00000500968.3	-	2	357	c.275A>G	c.(274-276)cAc>cGc	p.H92R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	92					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGAGCTGCTGTGACAGCGAAG	0.726000													7	19					0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223168736	223168736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:223168736C>T	ENST00000295226.1	+	2	499	c.115C>T	c.(115-117)Cga>Tga	p.R39*		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	39										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCGTTCCTCGAGTTTTAAA	0.587000													13	30					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281399	152281399	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152281399C>A	ENST00000368799.1	-	3	5998	c.5963G>T	c.(5962-5964)gGa>gTa	p.G1988V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1988	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGCCTGTCCACGAGAGGA	0.577000									Ichthyosis				143	1649					2.10328e-26	4.34945e-26	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47941192	47941192	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:47941192C>T	ENST00000236877.6	-	7	2319	c.1924G>A	c.(1924-1926)Gct>Act	p.A642T	SLC8A2_ENST00000539381.1_Missense_Mutation_p.A105T|SLC8A2_ENST00000542837.1_Missense_Mutation_p.A398T|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	642					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATCCTCCGAGCCTCCTCCTCC	0.577000													7	99					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209200839	209200839	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:209200839A>T	ENST00000264380.4	+	27	4593	c.4435A>T	c.(4435-4437)Acc>Tcc	p.T1479S	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1479					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTGTAGATACCCCTCAGCA	0.448000													20	40					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117386678	117386678	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:117386678G>A	ENST00000374049.4	+	3	592	c.155G>A	c.(154-156)tGt>tAt	p.C52Y	C9orf91_ENST00000288502.4_Missense_Mutation_p.C52Y|C9orf91_ENST00000471206.1_3'UTR	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	52						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GACAATACCTGTGCACCCATC	0.522000													3	8					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039254	248039254	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248039254C>A	ENST00000366481.3	+	6	972	c.924C>A	c.(922-924)gcC>gcA	p.A308A	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	308	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTTGACCGCCGACCTGCGCA	0.572000													9	57					0.00829132	0.00911805	1	1	0
ESR1	2099	broad.mit.edu	37	6	152129212	152129212	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:152129212C>T	ENST00000440973.1	+	3	535	c.165C>T	c.(163-165)ccC>ccT	p.P55P	ESR1_ENST00000206249.3_Silent_p.P55P|ESR1_ENST00000443427.1_Silent_p.P55P|ESR1_ENST00000406599.1_Silent_p.P55P|ESR1_ENST00000338799.5_Silent_p.P55P|ESR1_ENST00000456483.2_Silent_p.P55P	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	55	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACAACTACCCCGAGGGCGCCG	0.711000													12	17					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071530	53071530	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:53071530G>T	ENST00000276480.7	-	15	2417	c.1734C>A	c.(1732-1734)atC>atA	p.I578I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	578						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAAGGTTCAGGATGGCAGCAG	0.597000													44	190					1.15183e-24	2.31278e-24	1	1	0
DPH7	92715	broad.mit.edu	37	9	140449977	140449977	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:140449977C>A	ENST00000277540.2	-	9	1230	c.1073G>T	c.(1072-1074)aGc>aTc	p.S358I	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		TCCTAGGTTGCTAGGAAAGGA	0.587000													6	78					5.9392e-07	8.02794e-07	1	1	0
CDH5	1003	broad.mit.edu	37	16	66436602	66436602	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:66436602C>A	ENST00000341529.3	+	12	2033	c.1885C>A	c.(1885-1887)Cgc>Agc	p.R629S	CDH5_ENST00000539168.1_Missense_Mutation_p.R68S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	629					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGCAGGCCCGCGCGCACGG	0.687000													4	18					1	1	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454113	84454113	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:84454113C>T	ENST00000377084.2	-	1	2415	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	510						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCCTGCCACCGGGAGGTACA	0.552000													13	53					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480547	73480547	+	Splice_Site	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:73480547A>T	ENST00000523207.1	+	2	1166	c.579_splice	c.e2+1	p.K193_splice		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	193					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTGGCTGCAAAGGTATGAAAC	0.423000													9	59					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71010021	71010021	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:71010021C>A	ENST00000357250.6	-	3	315	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	COL9A1_ENST00000370496.3_Missense_Mutation_p.D53Y	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	53	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCTGGTAAGTCATCTTGGCCA	0.363000													20	40					7.41877e-09	1.11355e-08	1	1	0
ZNF474	133923	broad.mit.edu	37	5	121488214	121488214	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:121488214C>T	ENST00000296600.4	+	2	912	c.529C>T	c.(529-531)Cca>Tca	p.P177S	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	177						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CACATTCTTGCCAGATCATCT	0.527000													10	35					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734686	12734686	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:12734686C>A	ENST00000380682.1	+	15	2614	c.2108C>A	c.(2107-2109)cCa>cAa	p.P703Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	703					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GATCTCACTCCAGAGGCAGAG	0.512000													17	242					1.5739e-10	2.52687e-10	1	1	0
HAPLN1	1404	broad.mit.edu	37	5	82948630	82948630	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:82948630G>T	ENST00000274341.4	-	3	964	c.114C>A	c.(112-114)ccC>ccA	p.P38P	HAPLN1_ENST00000514416.1_Silent_p.P38P	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	38	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CAAGTAGATGGGGGCCATTTT	0.338000													7	19					0.0293803	0.0310534	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1232368	1232368	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:1232368C>A	ENST00000324642.3	+	2	318	c.195C>A	c.(193-195)gtC>gtA	p.V65V	SLC6A18_ENST00000296821.4_Silent_p.V65V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	65					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCGCGCTGGTCTTCGAGGGGA	0.692000													14	18					1.5842e-08	2.35925e-08	1	1	0
KLHL34	257240	broad.mit.edu	37	X	21674179	21674179	+	Silent	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:21674179C>G	ENST00000379499.2	-	1	2269	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	576										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGGCCGCCCAGCAGCAACG	0.692000													5	20					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874587	88874587	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:88874587G>A	ENST00000303236.3	-	13	2715	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S654L|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	805	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAATACTATTGAAGAGGAGGT	0.413000													39	86					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111862912	111862912	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:111862912A>T	ENST00000369740.1	+	12	1358	c.1255A>T	c.(1255-1257)Agc>Tgc	p.S419C	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Missense_Mutation_p.S311C|CHIA_ENST00000483391.1_Missense_Mutation_p.S258C|CHIA_ENST00000451398.2_Missense_Mutation_p.S258C|CHIA_ENST00000353665.6_Missense_Mutation_p.S258C|CHIA_ENST00000343320.6_Missense_Mutation_p.S419C	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	419	Poly-Ser.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGGGAGTAGCAGCTCTGGAGG	0.582000													8	65					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965989	35965989	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:35965989C>A	ENST00000274278.3	-	4	699	c.342G>T	c.(340-342)atG>atT	p.M114I	UGT3A1_ENST00000333811.4_Missense_Mutation_p.M60I|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.M114I|UGT3A1_ENST00000507113.1_Missense_Mutation_p.M80I	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	114						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAATATTTCCATTAGCTTTA	0.294000													13	13					3.27435e-08	4.80112e-08	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36899238	36899238	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:36899238C>A	ENST00000301807.6	-	12	2090	c.193G>T	c.(193-195)Gac>Tac	p.D65Y	TRANK1_ENST00000429976.2_Missense_Mutation_p.D615Y|TRANK1_ENST00000428977.2_Missense_Mutation_p.D65Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	615					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCAGCAGAGTCCTGCCGGCTC	0.562000													22	132					7.41877e-09	1.11355e-08	1	1	0
ZNF540	163255	broad.mit.edu	37	19	38104045	38104045	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:38104045C>G	ENST00000592533.1	+	5	2196	c.1864C>G	c.(1864-1866)Ctt>Gtt	p.L622V	ZNF540_ENST00000343599.5_Missense_Mutation_p.L622V|ZNF540_ENST00000589117.1_Missense_Mutation_p.L590V|ZNF540_ENST00000316433.4_Missense_Mutation_p.L622V	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAATTCACACCTTACTGAACA	0.373000													13	16					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18252756	18252756	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:18252756G>C	ENST00000262811.5	+	20	2183	c.2183G>C	c.(2182-2184)aGt>aCt	p.S728T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	728							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGAGCTTCAGTGAAGACCGG	0.607000													8	11					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229588299	229588299	+	Silent	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:229588299T>C	ENST00000261396.3	-	22	3163	c.3072A>G	c.(3070-3072)ccA>ccG	p.P1024P	NUP133_ENST00000537506.1_Silent_p.P1008P|NUP133_ENST00000366679.1_Silent_p.P953P	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1024					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGTCAATACTGGCATCGCAC	0.448000													7	46					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834760	107834760	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:107834760C>A	ENST00000379028.3	-	16	2046	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	NRCAM_ENST00000413765.2_Missense_Mutation_p.V507F|NRCAM_ENST00000425651.2_Missense_Mutation_p.V526F|NRCAM_ENST00000351718.4_Missense_Mutation_p.V520F|NRCAM_ENST00000379024.4_Missense_Mutation_p.V507F|NRCAM_ENST00000379022.4_Missense_Mutation_p.V526F			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	526	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCCTTGCAACACACGTATAA	0.343000													5	46					0.217242	0.218969	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129674435	129674435	+	Silent	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:129674435T>C	ENST00000421865.2	+	32	4699	c.4650T>C	c.(4648-4650)ccT>ccC	p.P1550P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1550	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGTGCCGACCTGGAGCCACGG	0.567000													11	77					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955876	55955876	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:55955876A>G	ENST00000263923.4	-	24	3581	c.3286T>C	c.(3286-3288)Tgg>Cgg	p.W1096R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1096	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AATATTTCCCACAGCAAAACA	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			21	77					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647455	57647455	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:57647455C>A	ENST00000269834.1	-	5	635	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAATGTCCCCATTTTTTTCT	0.383000													18	36					1.99824e-07	2.75481e-07	1	1	0
JARID2	3720	broad.mit.edu	37	6	15452269	15452269	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:15452269A>T	ENST00000341776.2	+	4	600	c.356A>T	c.(355-357)cAg>cTg	p.Q119L	JARID2_ENST00000541660.1_Missense_Mutation_p.Q81L|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	119					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGTTTGCTCAGTCTCAGCCG	0.468000													19	49					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89035241	89035241	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:89035241A>G	ENST00000283646.4	+	6	638	c.583A>G	c.(583-585)Atc>Gtc	p.I195V		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	195					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTTCATCGTGATCGCTGATTT	0.493000													54	117					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624695	39624695	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:39624695C>G	ENST00000265708.4	-	13	1391	c.1288G>C	c.(1288-1290)Gga>Cga	p.G430R	ADAM2_ENST00000521880.1_Missense_Mutation_p.G430R|ADAM2_ENST00000347580.4_Missense_Mutation_p.G411R|ADAM2_ENST00000379853.2_Missense_Mutation_p.G304R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	430	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGCATGGTCCTTCAGCACAG	0.363000													15	75					0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151049293	151049293	+	Missense_Mutation	SNP	G	G	T	rs11542492		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:151049293G>T	ENST00000231061.4	-	6	696	c.383C>A	c.(382-384)aCa>aAa	p.T128K		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	128	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GGTGCACTTTGTGGCAAAGAA	0.552000													9	52					3.09899e-07	4.23398e-07	1	1	0
SEMA7A	8482	broad.mit.edu	37	15	74703654	74703654	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:74703654A>C	ENST00000261918.4	-	13	2169	c.1621T>G	c.(1621-1623)Tgt>Ggt	p.C541G	SEMA7A_ENST00000542748.1_Missense_Mutation_p.C376G|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C527G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	541					axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGGTTGGGACACTCCTTGTGT	0.587000													3	16					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566455	142566455	+	Silent	SNP	G	G	C	rs149772779	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:142566455G>C	ENST00000392957.2	+	15	3031	c.2244G>C	c.(2242-2244)acG>acC	p.T748T	EPHB6_ENST00000411471.2_Silent_p.T471T|EPHB6_ENST00000442129.1_Silent_p.T748T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	748	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGTGCTGACGGAGTTCATGG	0.647000													15	42					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174514	150174514	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:150174514G>T	ENST00000307271.3	+	5	2218	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	548						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGCGAAACTGGAGGCCATCT	0.493000													17	46					8.60227e-14	1.5331e-13	1	1	0
NBAS	51594	broad.mit.edu	37	2	15432722	15432722	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:15432722C>A	ENST00000281513.5	-	41	4991	c.4966G>T	c.(4966-4968)Gac>Tac	p.D1656Y	NBAS_ENST00000441750.1_Missense_Mutation_p.D1536Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1656										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGCTGCACGTCCACACCCTTC	0.468000													9	40					0.00621372	0.0068531	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32843292	32843292	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:32843292G>A	ENST00000397452.1	-	4	391	c.281C>T	c.(280-282)tCa>tTa	p.S94L	BPIFC_ENST00000300399.3_Missense_Mutation_p.S94L|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	94						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAAGCCAATGAGGTATTTGG	0.448000													11	33					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645410	13645410	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:13645410C>A	ENST00000361205.4	+	7	1343	c.675C>A	c.(673-675)agC>agA	p.S225R	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.S225R|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.S127R|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.S188R|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.S148R|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.S170R|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.S207R	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CTATGTATAGCGGGGGTCCAT	0.572000													37	104					5.8336e-16	1.08808e-15	1	1	0
MROH7	374977	broad.mit.edu	37	1	55118765	55118765	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:55118765G>A	ENST00000414150.2	+	3	444	c.166G>A	c.(166-168)Gct>Act	p.A56T	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.A56T|MROH7_ENST00000339553.5_Missense_Mutation_p.A56T|MROH7_ENST00000421030.2_Missense_Mutation_p.A56T|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron					maestro heat-like repeat family member 7																		TCCTGGCTTGGCTCTCGTTCC	0.567000													11	64					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324530	31324530	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:31324530C>A	ENST00000269197.5	+	12	4718	c.4718C>A	c.(4717-4719)aCt>aAt	p.T1573N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGAGCCGACTGCTCCCAGT	0.483000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0.014758	0.0158628	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54306499	54306499	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:54306499G>A	ENST00000545554.1	+	1	1399	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	UNC13C_ENST00000537900.1_Missense_Mutation_p.V467M|UNC13C_ENST00000260323.11_Missense_Mutation_p.V467M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	467					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTTACGCTGTGCTTTCCAA	0.418000													10	27					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798764	57798764	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:57798764A>C	ENST00000302622.3	+	1	363	c.340A>C	c.(340-342)Act>Cct	p.T114P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCTTGGGGCAACTGAGTGTTT	0.512000													17	71					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431561	233431561	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:233431561G>T	ENST00000409514.1	+	5	440	c.398G>T	c.(397-399)gGc>gTc	p.G133V	EIF4E2_ENST00000258416.3_Missense_Mutation_p.G133V|EIF4E2_ENST00000409394.1_Missense_Mutation_p.G88V|EIF4E2_ENST00000409495.1_Missense_Mutation_p.G133V|EIF4E2_ENST00000409098.1_Missense_Mutation_p.G133V|EIF4E2_ENST00000409322.1_Missense_Mutation_p.G88V|EIF4E2_ENST00000409167.3_Missense_Mutation_p.G88V			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	133					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAATGGTGGCAAGTGGATT	0.453000													6	24					3.59834e-05	4.45983e-05	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48431657	48431657	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:48431657G>A	ENST00000435803.1	+	38	11818	c.11794G>A	c.(11794-11796)Gtc>Atc	p.V3932I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3932	ABC transporter 1.				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						CAACCTCACCGTCCGGGAACA	0.507000													12	96					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29670153	29670153	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:29670153G>T	ENST00000358273.4	+	48	7572	c.7189_splice	c.e48+1	p.G2397_splice	NF1_ENST00000417592.2_Splice_Site_p.G110_splice|NF1_ENST00000356175.3_Splice_Site_p.G2376_splice|NF1_ENST00000444181.2_Splice_Site_p.G190_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2397					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTTTTAAAAGGTAAAAAAGC	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	18					8.12818e-05	9.78726e-05	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24884657	24884657	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:24884657A>G	ENST00000396432.2	-	19	4187	c.3701T>C	c.(3700-3702)cTc>cCc	p.L1234P	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.L1021P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1233	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTGTGAAGAGAGGCTCAGG	0.333000													3	29					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823505	25823505	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:25823505G>A	ENST00000381801.5	-	14	2492	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	577						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CATCATTTACGGGTAGCAGAG	0.428000													14	28					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760820	153760820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:153760820C>A	ENST00000393562.2	-	10	1722	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*	G6PD_ENST00000369620.2_Nonsense_Mutation_p.E463*|G6PD_ENST00000393564.2_Nonsense_Mutation_p.E417*	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	417			G -> R (in Santiago de Cuba; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	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)					AGCTCCGACTCCTCGGGGTTG	0.622000													39	219					4.14481e-20	8.04643e-20	1	1	0
TTC7A	57217	broad.mit.edu	37	2	47184002	47184002	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:47184002C>T	ENST00000319190.5	+	3	741	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.L91L|TTC7A_ENST00000394850.2_Silent_p.L125L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	125							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGAGGCCATGCTGATCCTGGG	0.552000													31	79					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076716	87076716	+	Missense_Mutation	SNP	G	G	C	rs143275565		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:87076716G>C	ENST00000276616.2	-	2	404	c.330C>G	c.(328-330)agC>agG	p.S110R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	110	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCCGCAGGACGCTCAGCTCAG	0.507000													32	96					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028612	42028612	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:42028612G>T	ENST00000219905.7	+	13	4331	c.4150G>T	c.(4150-4152)Ggt>Tgt	p.G1384C	MGA_ENST00000566586.1_Missense_Mutation_p.G1384C|MGA_ENST00000389936.4_Missense_Mutation_p.G1384C|MGA_ENST00000545763.1_Missense_Mutation_p.G1384C|MGA_ENST00000570161.1_Missense_Mutation_p.G1384C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1384						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAGAGCCGGGGTGAGAAGAA	0.453000													10	35					1.58986e-06	2.10415e-06	1	1	0
SFTPA2	729238	broad.mit.edu	37	10	81317071	81317071	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:81317071C>A	ENST00000372325.2	-	6	725	c.641G>T	c.(640-642)gGg>gTg	p.G214V	SFTPA2_ENST00000372327.5_Missense_Mutation_p.G214V	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	214	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGCAGGCTCCCCTCGGTACCA	0.552000									Pulmonary Fibrosis, Idiopathic				78	108					2.6465e-34	5.64142e-34	1	1	0
ACTN3	89	broad.mit.edu	37	11	66323691	66323691	+	RNA	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:66323691G>A	ENST00000502692.1	+	0	1039				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCCTTTGCCGGGGCTGAGCAG	0.592000													15	138					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17340937	17340937	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:17340937G>T	ENST00000380647.3	+	11	1841	c.1757G>T	c.(1756-1758)gGc>gTc	p.G586V	CNTLN_ENST00000425824.1_Missense_Mutation_p.G586V|CNTLN_ENST00000262360.5_Missense_Mutation_p.G586V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	586						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGGGAAGAAGGCAGTGGCATG	0.393000													7	24					0.0293803	0.0310534	1	1	0
SSUH2	51066	broad.mit.edu	37	3	8671361	8671361	+	Missense_Mutation	SNP	C	C	A	rs144988627	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:8671361C>A	ENST00000317371.4	-	14	1736	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	SSUH2_ENST00000415132.1_Missense_Mutation_p.G171W|SSUH2_ENST00000544814.1_Missense_Mutation_p.G193W|SSUH2_ENST00000341795.3_Missense_Mutation_p.G171W					ssu-2 homolog (C. elegans)																		GTGCCCGCCCCGTGGCAGCCG	0.627000													10	106					6.40141e-05	7.7695e-05	1	1	0
ZNF182	7569	broad.mit.edu	37	X	47836557	47836557	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:47836557C>A	ENST00000396965.1	-	7	1279	c.929G>T	c.(928-930)aGg>aTg	p.R310M	ZNF182_ENST00000305127.6_Missense_Mutation_p.R310M|ZNF182_ENST00000376943.3_Missense_Mutation_p.R291M	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGTGTGAGTCCTGTAATGTAT	0.423000													5	68					0.000602214	0.000699672	1	1	0
DPP3	10072	broad.mit.edu	37	11	66258843	66258843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:66258843G>T	ENST00000532677.1	+	7	1245	c.844G>T	c.(844-846)Gag>Tag	p.E282*	DPP3_ENST00000530165.1_Nonsense_Mutation_p.E233*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.E263*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.E283*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.E263*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.E263*	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	263					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGAGCAGCTGGAGAAAGCCAA	0.657000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	42					8.88839e-20	1.72114e-19	1	1	0
MS4A2	2206	broad.mit.edu	37	11	59861479	59861479	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:59861479G>C	ENST00000278888.3	+	6	682	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	194					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCTGGGACTTGGTAGTGCTGT	0.413000													5	20					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754205	49754205	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:49754205A>C	ENST00000304801.3	-	1	848	c.696T>G	c.(694-696)aaT>aaG	p.N232K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	232					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAATCATCTCATTGACTTTGT	0.443000													27	113					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66327771	66327771	+	RNA	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:66327771G>A	ENST00000504911.1	-	0	84				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							ACACTCTGTGGAGGAGACCCA	0.622000													4	21					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79073865	79073865	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:79073865G>C	ENST00000321300.6	+	7	720	c.627G>C	c.(625-627)gcG>gcC	p.A209A	BAIAP2_ENST00000575712.1_Silent_p.A209A|BAIAP2_ENST00000428708.2_Silent_p.A209A|BAIAP2_ENST00000435091.3_Silent_p.A209A|BAIAP2_ENST00000575245.1_Silent_p.A242A|BAIAP2_ENST00000392411.3_Silent_p.A131A|BAIAP2_ENST00000321280.7_Silent_p.A209A|BAIAP2_ENST00000416299.2_Silent_p.A72A	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	209	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAACTCCGCGGCCTACCACT	0.672000													9	42					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135419058	135419058	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:135419058C>A	ENST00000338588.3	-	3	452	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	FAM180A_ENST00000415751.1_Missense_Mutation_p.A63S	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	63						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCAAGTTCGGCCAGCAGGAAC	0.532000													26	55					1.55469e-16	2.90693e-16	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48604357	48604357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:48604357C>A	ENST00000328333.8	-	110	8316	c.8209G>T	c.(8209-8211)Gga>Tga	p.G2737*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2705*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2737	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTGAAGTCCTTCGGGGCCT	0.627000													7	24					0.0293803	0.0310534	1	1	0
GPR6	2830	broad.mit.edu	37	6	110301342	110301342	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:110301342C>A	ENST00000414000.2	+	3	1311	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	GPR6_ENST00000275169.3_Missense_Mutation_p.L343M			P46095	GPR6_HUMAN	G protein-coupled receptor 6	343						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCTGTGGCTCCTGCTCTGTGG	0.602000													43	103					2.37825e-27	4.94494e-27	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11049563	11049563	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:11049563G>T	ENST00000470054.1	-	0	545									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)		TAGTACAAAAGAACTGATCTA	0.423000													9	129					1.08611e-07	1.51657e-07	1	1	0
POSTN	10631	broad.mit.edu	37	13	38156502	38156502	+	Splice_Site	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:38156502C>T	ENST00000379747.4	-	10	1510		c.e10+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GATTCACTTACTGTACGATAT	0.348000													22	25					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113562993	113562993	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:113562993G>T	ENST00000297405.5	-	27	4715	c.4471C>A	c.(4471-4473)Cct>Act	p.P1491T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1387T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1491T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1451T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1491	CUB 8.					integral to membrane|plasma membrane				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						ATTCCTTCAGGAATAAGAGAT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	38					0.004672	0.00517524	1	1	0
ZXDB	158586	broad.mit.edu	37	X	57620124	57620124	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:57620124G>A	ENST00000374888.1	+	1	1856	c.1643G>A	c.(1642-1644)cGt>cAt	p.R548H		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	548	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TGGAAAAGCCGTTGCCCGATC	0.512000													12	69					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235793	106235793	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:106235793G>T	ENST00000390551.2	-	0	913																											CGGCGATGTCGCTGGGGTAGA	0.622000													72	180					1.26778e-28	2.6578e-28	1	1	0
APCDD1L	164284	broad.mit.edu	37	20	57036150	57036150	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:57036150G>T	ENST00000371149.3	-	4	1432	c.1202C>A	c.(1201-1203)cCg>cAg	p.P401Q	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P412Q	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	401						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GATGCCCAGCGGTAGGCAGCC	0.622000													44	57					3.7052e-28	7.72509e-28	1	1	0
TENM1	10178	broad.mit.edu	37	X	123587342	123587342	+	Splice_Site	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:123587342C>A	ENST00000422452.2	-	23	4013		c.e23-1		TENM1_ENST00000371130.3_Splice_Site|TENM1_ENST00000461429.1_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACTGTGATGCCTGTTGGGAAA	0.378000													16	36					1.52009e-12	2.58212e-12	1	1	0
AK8	158067	broad.mit.edu	37	9	135698627	135698627	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:135698627G>T	ENST00000298545.3	-	9	1375	c.854C>A	c.(853-855)gCc>gAc	p.A285D	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	285	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAGGAGGGCGGCCTGCAGACT	0.627000													35	117					2.20262e-25	4.4818e-25	1	1	0
GPR124	25960	broad.mit.edu	37	8	37686427	37686427	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:37686427C>T	ENST00000315215.7	+	3	723	c.360C>T	c.(358-360)atC>atT	p.I120I	GPR124_ENST00000412232.2_Silent_p.I120I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	120					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAACATCATCAGCACAGTGC	0.677000													19	82					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314169	153314169	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:153314169C>A	ENST00000368739.3	-	6	905	c.547G>T	c.(547-549)Gtt>Ttt	p.V183F	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.V187F			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	187					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGGCTGAACATAACTGGAT	0.557000													37	251					9.8876e-21	1.93929e-20	1	1	0
ZIM2	23619	broad.mit.edu	37	19	57286535	57286535	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:57286535G>T	ENST00000391708.3	-	12	1647	c.1105C>A	c.(1105-1107)Cca>Aca	p.P369T	ZIM2_ENST00000601070.1_Missense_Mutation_p.P369T|ZIM2_ENST00000221722.5_Missense_Mutation_p.P369T|ZIM2_ENST00000593711.1_Missense_Mutation_p.P369T|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.P369T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTGAGGTGTGGCATGAGATAG	0.478000													8	34					3.09899e-07	4.23398e-07	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518416	113518416	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:113518416G>T	ENST00000284601.3	-	4	2799	c.2731C>A	c.(2731-2733)Cag>Aag	p.Q911K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	911					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGCTATTCTGAGGAGCTCTA	0.398000													12	35					1.08611e-07	1.51657e-07	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20448669	20448669	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:20448669C>A	ENST00000331849.4	+	12	1663	c.1516C>A	c.(1516-1518)Cca>Aca	p.P506T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	506					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGTCAGCAGCCCAGACCCCAT	0.562000													4	55					5.9392e-07	8.02794e-07	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308686	248308686	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248308686C>A	ENST00000366476.1	+	1	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CTACCGTACCCAAGATGGCCT	0.498000													83	270					1.10181e-30	2.32911e-30	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994194	140994194	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:140994194A>T	ENST00000285879.4	+	4	1290	c.1004A>T	c.(1003-1005)cAg>cTg	p.Q335L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTTCCCCAGTCTCTTCTC	0.458000										HNSCC(15;0.026)			43	137					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307858	207307858	+	Silent	SNP	A	A	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:207307858A>C	ENST00000367070.3	+	9	1388	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	398	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCATTTTCATGTCATGAGA	0.423000													6	67					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232460	71232460	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:71232460C>A	ENST00000226460.4	+	3	250	c.154C>A	c.(154-156)Cca>Aca	p.P52T		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	52	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ATTTGTTCCACCACCCCATCC	0.577000													17	108					3.73808e-20	7.2754e-20	1	1	0
LOC400867	400867	broad.mit.edu	37	21	40250739	40250739	+	RNA	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:40250739G>T	ENST00000380931.2	-	0	2298																											TTTCTAGGTTGGGCATCAGTT	0.358000													22	77					8.10497e-08	1.14858e-07	1	1	0
AASDH	132949	broad.mit.edu	37	4	57215456	57215456	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:57215456A>G	ENST00000205214.6	-	11	2641	c.2461T>C	c.(2461-2463)Tct>Cct	p.S821P	AASDH_ENST00000434343.2_Missense_Mutation_p.S336P|AASDH_ENST00000602986.1_Missense_Mutation_p.S668P|AASDH_ENST00000451613.1_Missense_Mutation_p.S821P|AASDH_ENST00000513376.1_Missense_Mutation_p.S721P|AASDH_ENST00000502617.1_Missense_Mutation_p.S821P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	821					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCACACTTAGATACACATGCT	0.368000													7	37					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37687024	37687024	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:37687024C>A	ENST00000315215.7	+	5	864	c.501C>A	c.(499-501)atC>atA	p.I167I	GPR124_ENST00000412232.2_Silent_p.I167I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	167					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGGAAACATCTTCTCCAGTC	0.552000													7	60					0.000673444	0.000776501	1	1	0
SLC5A11	115584	broad.mit.edu	37	16	24919375	24919375	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:24919375T>C	ENST00000347898.3	+	13	1979	c.1357T>C	c.(1357-1359)Tcc>Ccc	p.S453P	SLC5A11_ENST00000449109.2_Missense_Mutation_p.S297P|SLC5A11_ENST00000545376.1_Missense_Mutation_p.S383P|SLC5A11_ENST00000568579.1_Missense_Mutation_p.S383P|SLC5A11_ENST00000565769.1_Missense_Mutation_p.S389P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.S418P|SLC5A11_ENST00000569071.1_Missense_Mutation_p.S297P|SLC5A11_ENST00000424767.2_Missense_Mutation_p.S418P|SLC5A11_ENST00000539472.1_Missense_Mutation_p.S389P	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	453					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTATATCCAGTCCATCAGCTC	0.582000													15	172					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182937	39182937	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:39182937G>T	ENST00000361883.5	-	1	517	c.471C>A	c.(469-471)tcC>tcA	p.S157S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	157	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GTCCACAGTAGGACGGGCGGC	0.607000													28	61					7.68411e-24	1.53079e-23	1	1	0
CEP170	9859	broad.mit.edu	37	1	243327842	243327842	+	Silent	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:243327842T>G	ENST00000366542.1	-	13	3471	c.3420A>C	c.(3418-3420)ggA>ggC	p.G1140G	CEP170_ENST00000366544.1_Silent_p.G1042G|CEP170_ENST00000366543.1_Silent_p.G1042G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1140	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTACGCCTTCCTGTGGGAG	0.453000													7	18					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883431	52883431	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:52883431T>A	ENST00000343457.3	-	1	355	c.349A>T	c.(349-351)Agc>Tgc	p.S117C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	117						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCATTGTTGCTGAGGTTTAAC	0.413000													12	65					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996558	4996558	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:4996558C>A	ENST00000380051.2	-	6	700	c.656G>T	c.(655-657)tGc>tTc	p.C219F	RPP40_ENST00000464646.1_Missense_Mutation_p.C159F|RPP40_ENST00000319533.5_Missense_Mutation_p.C196F	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	219					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CAGCACTGGGCACTGGAGATC	0.532000													10	109					0.000442599	0.00051898	1	1	0
LRBA	987	broad.mit.edu	37	4	151850104	151850104	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:151850104G>C	ENST00000535741.1	-	3	803	c.330C>G	c.(328-330)gtC>gtG	p.V110V	LRBA_ENST00000357115.3_Silent_p.V110V|LRBA_ENST00000510413.1_Silent_p.V110V|LRBA_ENST00000507224.1_Silent_p.V110V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	110						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACATGCTCCAGACTTCTGCTT	0.398000													10	53					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739886	152739886	+	Splice_Site	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:152739886T>A	ENST00000360283.6	-	2	303		c.e2-2		CACNB4_ENST00000201943.5_Splice_Site|CACNB4_ENST00000534999.1_Splice_Site|CACNB4_ENST00000475848.1_Splice_Site|CACNB4_ENST00000539935.1_Splice_Site|CACNB4_ENST00000397327.2_Splice_Site|CACNB4_ENST00000427385.1_Splice_Site			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGCTGAACCCTGGCAAAGAAA	0.448000													15	56					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962236	151962236	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:151962236G>T	ENST00000355193.2	-	8	1289	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	KMT2C_ENST00000262189.6_Missense_Mutation_p.F357L					lysine (K)-specific methyltransferase 2C																		TAGTACAAAAGAACTGATCTA	0.423000													13	205					6.94344e-10	1.08948e-09	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20854252	20854252	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:20854252G>T	ENST00000381552.1	+	3	498	c.129_splice	c.e3-1	p.V44_splice	SLCO1C1_ENST00000266509.2_Splice_Site_p.V44_splice|SLCO1C1_ENST00000540354.1_Splice_Site_p.V44_splice|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Splice_Site_p.V44_splice			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	44					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATTTTCCAGGTGTTCTTGTG	0.393000													8	20					1.12685e-05	1.41741e-05	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137255	40137255	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:40137255C>A	ENST00000278198.2	-	2	2551	c.588G>T	c.(586-588)ctG>ctT	p.L196L	LRRC4C_ENST00000528697.1_Silent_p.L196L|LRRC4C_ENST00000527150.1_Silent_p.L196L|LRRC4C_ENST00000530763.1_Silent_p.L196L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	196					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAAGTTGGACAGACCTTCAA	0.438000													10	30					2.17888e-05	2.71824e-05	1	1	0
PSG8	440533	broad.mit.edu	37	19	43259171	43259171	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:43259171G>T	ENST00000404209.4	-	4	1053	c.957C>A	c.(955-957)atC>atA	p.I319I	PSG8_ENST00000406636.3_Silent_p.I197I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Silent_p.I319I|PSG8_ENST00000401467.2_Silent_p.I226I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	319	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTAACTGCGGATGCCACCAT	0.483000													41	101					2.66277e-13	4.6264e-13	1	1	0
CISD1	55847	broad.mit.edu	37	10	60037063	60037063	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:60037063G>T	ENST00000333926.5	+	2	434	c.218G>T	c.(217-219)cGt>cTt	p.R73L	CISD1_ENST00000488388.2_3'UTR	NM_018464.4	NP_060934.1	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	73						integral to membrane|mitochondrial outer membrane	2 iron, 2 sulfur cluster binding|metal ion binding			breast(1)	1						GTGTACTGCCGTTGTTGGAGG	0.368000													5	17					0.014758	0.0158628	1	1	0
ANK1	286	broad.mit.edu	37	8	41585468	41585468	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:41585468C>A	ENST00000396942.1	-	4	368	c.285G>T	c.(283-285)cgG>cgT	p.R95R	ANK1_ENST00000265709.8_Silent_p.R128R|ANK1_ENST00000352337.4_Silent_p.R95R|ANK1_ENST00000289734.7_Silent_p.R95R|ANK1_ENST00000379758.2_Silent_p.R95R|ANK1_ENST00000347528.4_Silent_p.R95R|ANK1_ENST00000396945.1_Silent_p.R95R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	95	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGACAAGCTCCCGGACCACCT	0.582000													19	88					0.00121646	0.00138582	1	1	0
PRMT6	55170	broad.mit.edu	37	1	107599901	107599901	+	Silent	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:107599901C>G	ENST00000361318.5	+	1	635	c.387C>G	c.(385-387)tcC>tcG	p.S129S	PRMT6_ENST00000370078.1_Silent_p.S188S	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	188					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGCCGGCCTCCGCCGAGCTCT	0.632000													12	74					0	0	1	0	0
IER5	51278	broad.mit.edu	37	1	181058756	181058756	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:181058756A>T	ENST00000367577.4	+	1	1119	c.718A>T	c.(718-720)Aag>Tag	p.K240*		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	240										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						GACCCCGCTCAAGAAGCCCCG	0.741000													4	25					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632829	169632829	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:169632829C>A	ENST00000335742.7	+	10	1930	c.573C>A	c.(571-573)tcC>tcA	p.S191S	PALLD_ENST00000512127.1_Silent_p.S191S|PALLD_ENST00000261509.6_Silent_p.S573S|PALLD_ENST00000505667.1_Silent_p.S573S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	573					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGACAAGTTCCTTGGAGTTGG	0.483000									Pancreatic Cancer, Familial Clustering of				6	37					5.9392e-07	8.02794e-07	1	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926438	22926438	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:22926438C>A	ENST00000261374.3	+	2	1093	c.659C>A	c.(658-660)tCc>tAc	p.S220Y		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	220						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CAGACACTCTCCAAGAAGCCC	0.597000													24	137					1.10513e-12	1.8899e-12	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113504735	113504735	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:113504735G>T	ENST00000297405.5	-	31	5505	c.5261C>A	c.(5260-5262)gCc>gAc	p.A1754D	CSMD3_ENST00000455883.2_Missense_Mutation_p.A1650D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1754D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1714D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1754	Sushi 9.					integral to membrane|plasma membrane				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						ACTTGGCAAGGCTCTATTCCA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	38					1.99824e-07	2.75481e-07	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40400468	40400468	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:40400468G>C	ENST00000338305.6	-	2	927	c.385C>G	c.(385-387)Ctt>Gtt	p.L129V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	129						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCACGATAAGGTGCTGCAGG	0.582000													15	63					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119136	9119136	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:9119136C>A	ENST00000382496.5	-	15	2564	c.1899G>T	c.(1897-1899)gtG>gtT	p.V633V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	633	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCCCACGCACACCCGGCCCC	0.682000													11	35					4.68919e-08	6.7457e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047616	9047616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:9047616C>A	ENST00000397910.4	-	5	34218	c.34015G>T	c.(34015-34017)Gag>Tag	p.E11339*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11341	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						TGTGGGGACTCAGGCACTGTT	0.483000													32	55					8.4185e-14	1.50387e-13	1	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55284965	55284965	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:55284965A>C	ENST00000336077.6	+	3	291	c.251A>C	c.(250-252)aAc>aCc	p.N84T	KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.N84T|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	84	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCCAAGGCCAACTTCTCCATC	0.522000													59	115					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337594	13337594	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:13337594G>T	ENST00000380622.2	-	1	924	c.460C>A	c.(460-462)Cga>Aga	p.R154R	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	154	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.R154*(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTTGTAATCGAGCCAAGAAA	0.398000													10	38					2.74318e-10	4.37644e-10	1	1	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	64					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89967559	89967559	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:89967559G>T	ENST00000402938.3	-	9	1361	c.1228C>A	c.(1228-1230)Cac>Aac	p.H410N	GABRR2_ENST00000602399.1_Missense_Mutation_p.H435N			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	435					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGGCCCAGGTGGACCACTATT	0.532000													8	18					1.12685e-05	1.41741e-05	1	1	0
OFD1	8481	broad.mit.edu	37	X	13786256	13786256	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:13786256A>G	ENST00000380567.1	+	22	3293	c.2421A>G	c.(2419-2421)atA>atG	p.I807M	OFD1_ENST00000340096.6_Missense_Mutation_p.I947M|OFD1_ENST00000380550.3_Missense_Mutation_p.I907M|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	947	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATCAAGAAATAAAAGACAAAT	0.348000													10	31					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798842	140798842	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:140798842G>T	ENST00000398594.2	+	1	1416	c.1416G>T	c.(1414-1416)gcG>gcT	p.A472A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCATAGCGCAAGTCAGTG	0.587000													22	72					5.26018e-13	9.05655e-13	1	1	0
TLR6	10333	broad.mit.edu	37	4	38830217	38830217	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:38830217C>G	ENST00000436693.2	-	2	997	c.878G>C	c.(877-879)cGt>cCt	p.R293P	TLR6_ENST00000381950.1_Missense_Mutation_p.R293P	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	293					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTTCTTCACGAATGCTTTC	0.343000													3	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571230	141571230	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:141571230G>T	ENST00000389484.3	-	32	6326	c.5355C>A	c.(5353-5355)atC>atA	p.I1785I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1785					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTACCCATGATGGTTAGGG	0.368000										TSP Lung(27;0.18)			8	19					0.000274275	0.000323101	1	1	0
OR3A1	4994	broad.mit.edu	37	17	3195021	3195021	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:3195021G>T	ENST00000323404.1	-	1	855	c.856C>A	c.(856-858)Ccc>Acc	p.P286T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTCAGCATGGGATTGATGACA	0.463000													22	52					2.37509e-13	4.15505e-13	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102291824	102291824	+	RNA	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:102291824C>T	ENST00000561463.1	+	0	590																											TGGAAACCACCCAGAACCTGG	0.542000													12	61					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277545	85277545	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:85277545G>T	ENST00000450363.3	-	5	1307	c.849C>A	c.(847-849)atC>atA	p.I283I	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	0					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TGTTATGTGTGATTTGCCCAC	0.333000													7	25					0.0477658	0.0500685	1	1	0
CLEC9A	283420	broad.mit.edu	37	12	10215663	10215663	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:10215663G>T	ENST00000355819.1	+	7	942	c.329G>T	c.(328-330)aGc>aTc	p.S110I		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	110					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.S110N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GCCCATAACAGCAGTCCTTGT	0.358000													3	40					0.115264	0.118856	1	1	0
HAX1	10456	broad.mit.edu	37	1	154247908	154247908	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:154247908C>T	ENST00000328703.7	+	6	916	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	HAX1_ENST00000532105.1_Missense_Mutation_p.R107W|HAX1_ENST00000457918.2_Missense_Mutation_p.R187W|HAX1_ENST00000483970.2_Missense_Mutation_p.R243W	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	235	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTGAGGGCCGGACAGAGAC	0.498000									Kostmann syndrome				31	227					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102516280	102516280	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:102516280G>C	ENST00000421544.1	+	16	3111	c.2621G>C	c.(2620-2622)cGg>cCg	p.R874P	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R798P|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R825P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	874					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCCAGCGTCGGTTAAAACAT	0.403000													12	28					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801245	46801245	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:46801245T>C	ENST00000230588.4	+	11	1588	c.1579T>C	c.(1579-1581)Ttc>Ctc	p.F527L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	527	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			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)			AAGCATGGTGTTCACTACCTC	0.527000													14	141					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444922	63444922	+	Missense_Mutation	SNP	G	G	T	rs145600139	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:63444922G>T	ENST00000453546.1	-	10	1823	c.1734C>A	c.(1732-1734)caC>caA	p.H578Q	ASB12_ENST00000396130.2_Missense_Mutation_p.H194Q|ASB12_ENST00000362002.2_Missense_Mutation_p.H203Q			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTCTGCCCCGTGGAGCAAAA	0.557000													14	36					4.3838e-07	5.97862e-07	1	1	0
FYB	2533	broad.mit.edu	37	5	39110456	39110456	+	Splice_Site	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:39110456A>T	ENST00000351578.6	-	16	2488		c.e16+1		FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AAATGGGCTTACTTGTCCGCT	0.289000													6	17					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255693	42255693	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:42255693C>G	ENST00000293414.1	+	5	1381	c.1297C>G	c.(1297-1299)Cgg>Ggg	p.R433G	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	433	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGCCACCCGGCTGCCACT	0.677000													6	32					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157150382	157150382	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:157150382G>T	ENST00000346085.5	+	2	1565	c.1564G>T	c.(1564-1566)Gtg>Ttg	p.V522L	ARID1B_ENST00000350026.5_Missense_Mutation_p.V522L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V464L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V522L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	522					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGATCCAATGGTGATGAAGAG	0.463000													16	58					6.72482e-11	1.0982e-10	1	1	0
ANGPTL4	51129	broad.mit.edu	37	19	8429487	8429487	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:8429487G>A	ENST00000301455.2	+	1	453	c.282G>A	c.(280-282)gaG>gaA	p.E94E	ANGPTL4_ENST00000393962.2_Silent_p.E94E|ANGPTL4_ENST00000541807.1_Intron	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	94					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TAGCCCCTGAGAGCCGGGTGG	0.692000													3	10					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432614	50432614	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:50432614G>T	ENST00000442544.2	+	3	1229	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	DCC_ENST00000412726.1_Missense_Mutation_p.G53W	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	205	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				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)		ACTCCAACCGGGGGACATTGG	0.507000													9	48					0.00448238	0.0050016	1	1	0
PRSS16	10279	broad.mit.edu	37	6	27222774	27222774	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:27222774A>T	ENST00000230582.3	+	11	1355	c.1340A>T	c.(1339-1341)gAc>gTc	p.D447V	PRSS16_ENST00000421826.2_Missense_Mutation_p.D190V|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	447					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGGACACAGACCCCTGGCAT	0.547000													57	152					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661436	18661436	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:18661436G>C	ENST00000251296.1	+	4	739	c.356G>C	c.(355-357)gGc>gCc	p.G119A		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	119	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCCATGTGGGCATCTACGAC	0.632000													16	33					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074101	53074101	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:53074101G>A	ENST00000276480.7	-	14	2111	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACGGGAAATTGAATTCAATTT	0.418000													15	52					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396992	68396992	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:68396992C>A	ENST00000297770.4	-	7	884	c.669G>T	c.(667-669)atG>atT	p.M223I	CPA6_ENST00000518549.1_Missense_Mutation_p.M223I|CPA6_ENST00000297769.4_Missense_Mutation_p.M75I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	223					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACATTTTTCTCATGGCTGGGT	0.363000													15	23					6.31663e-08	9.00178e-08	1	1	0
ACTL7A	10881	broad.mit.edu	37	9	111625524	111625524	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:111625524G>A	ENST00000333999.3	+	1	922	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	308						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGGAAGGAGATTCAGCT	0.542000													23	45					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919023	21919023	+	Silent	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:21919023A>G	ENST00000240662.2	-	3	1254	c.909T>C	c.(907-909)acT>acC	p.T303T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	303						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TGGTGATGCCAGTAGTTTCAA	0.498000													16	39					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511108	114511108	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:114511108G>T	ENST00000369558.1	+	13	2841	c.2609G>T	c.(2608-2610)gGg>gTg	p.G870V	HIPK1_ENST00000369559.4_Missense_Mutation_p.G870V|HIPK1_ENST00000369561.4_Missense_Mutation_p.G836V|HIPK1_ENST00000406344.1_Missense_Mutation_p.G476V|HIPK1_ENST00000340480.4_Missense_Mutation_p.G496V|HIPK1_ENST00000369553.1_Missense_Mutation_p.G476V|HIPK1_ENST00000369554.2_Missense_Mutation_p.G825V|HIPK1_ENST00000369555.2_Missense_Mutation_p.G825V|HIPK1_ENST00000426820.2_Missense_Mutation_p.G870V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCTGGTTGGGAGCAGTCCC	0.488000													8	62					1.06961e-07	1.5018e-07	1	1	0
PSG11	5680	broad.mit.edu	37	19	43522990	43522990	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:43522990G>A	ENST00000401740.1	-	3	744	c.641C>T	c.(640-642)cCc>cTc	p.P214L	PSG11_ENST00000306322.7_Missense_Mutation_p.P92L|PSG11_ENST00000320078.7_Missense_Mutation_p.P214L|PSG11_ENST00000403486.1_Missense_Mutation_p.P92L|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	214	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATTCATAGGGTCCTGCAGT	0.502000													14	322					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622409	41622409	+	Missense_Mutation	SNP	G	G	A	rs145103345	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:41622409G>A	ENST00000331105.2	+	3	293	c.221G>A	c.(220-222)cGg>cAg	p.R74Q		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGACCCAGGCGGGTGGTGGTC	0.602000													6	135					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153993240	153993240	+	Splice_Site	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:153993240C>T	ENST00000369550.5	+	2	293	c.84_splice	c.e2+1	p.A28_splice		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	28					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGATGTAGCCGTGAGTAGT	0.323000									Congenital Dyskeratosis				13	65					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369176	158369176	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:158369176C>A	ENST00000334438.1	-	1	80	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGACAAAAAGCAGCAGCTGGA	0.493000													4	33					0.150653	0.153477	1	1	0
OR5T2	219464	broad.mit.edu	37	11	55999725	55999725	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55999725C>A	ENST00000313264.4	-	1	1012	c.937G>T	c.(937-939)Gtg>Ttg	p.V313L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V313L(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATATTGACACTATCATGTCA	0.393000													15	71					2.48551e-13	4.32831e-13	1	1	0
ETNPPL	64850	broad.mit.edu	37	4	109667553	109667553	+	Splice_Site	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:109667553A>T	ENST00000296486.3	-	11	1458		c.e11+1		ETNPPL_ENST00000510706.1_Splice_Site|ETNPPL_ENST00000512646.1_Splice_Site|ETNPPL_ENST00000411864.2_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CCATGGACCCACCTGTTAGAA	0.413000													4	16					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39693053	39693053	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:39693053C>A	ENST00000287152.7	-	1	128	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	KIF6_ENST00000373216.3_Missense_Mutation_p.V12L|KIF6_ENST00000538893.1_Missense_Mutation_p.V12L|KIF6_ENST00000373215.3_Missense_Mutation_p.V12L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	12	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGGGGCTTCACCCTCGCGAAT	0.672000													92	227					4.21773e-46	9.04139e-46	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314259	54314259	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:54314259C>T	ENST00000324134.6	-	3	822	c.654G>A	c.(652-654)gcG>gcA	p.A218A	NLRP12_ENST00000391772.1_Silent_p.A218A|NLRP12_ENST00000391773.1_Silent_p.A218A|NLRP12_ENST00000391775.3_Silent_p.A218A|NLRP12_ENST00000351894.4_Silent_p.A218A|NLRP12_ENST00000345770.5_Silent_p.A218A|NLRP12_ENST00000535162.1_Silent_p.A218A|NLRP12_ENST00000354278.3_Silent_p.A218A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	218	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A218A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTATCCCTGCCGCGCCTTGCA	0.592000													42	76					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353000													3	38					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850540	50850540	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:50850540C>A	ENST00000404971.1	-	7	2484	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	NRXN1_ENST00000405472.3_Missense_Mutation_p.G349V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G349V|NRXN1_ENST00000406316.2_Missense_Mutation_p.G349V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G349V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G349V|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	349	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCAAAGGCCCCTGATCCCAA	0.468000													19	41					9.95505e-16	1.83433e-15	1	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292352	89292352	+	RNA	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:89292352G>C	ENST00000495489.1	-	0	98																											TCCTTACCTGGGAGCCAGAGC	0.532000													37	122					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988198	103988198	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:103988198G>C	ENST00000370005.3	+	3	479	c.258G>C	c.(256-258)tgG>tgC	p.W86C		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	86					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TGAGGATGTGGGGCATTATGG	0.522000													14	26					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266117	1266117	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:1266117G>A	ENST00000447027.1	+	31	8074	c.8016G>A	c.(8014-8016)gtG>gtA	p.V2672V	MUC5B_ENST00000529681.1_Silent_p.V2669V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2669	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		CCACAACTGTGGCCACTGGTT	0.627000													6	25					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389184	128389184	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:128389184G>A	ENST00000389524.4	+	37	5083	c.5030G>A	c.(5029-5031)cGg>cAg	p.R1677Q	MYO7B_ENST00000409090.1_Missense_Mutation_p.R529Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1676Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1676Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1676	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCCATCCTCCGGTACATGGGC	0.677000													3	42					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89352418	89352418	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:89352418G>A	ENST00000380265.5	+	16	2286	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	HERC6_ENST00000264346.7_Missense_Mutation_p.M737I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	737	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAATGTTCATGTATCCTGAAA	0.398000													14	56					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244148	56244148	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:56244148C>A	ENST00000332836.2	-	2	1076	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	350	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCTCTCTAGCCTCTGTTTCAC	0.413000													23	40					4.4004e-07	5.97983e-07	1	1	0
ACTN3	89	broad.mit.edu	37	11	66328139	66328139	+	RNA	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:66328139G>C	ENST00000502692.1	+	0	2018				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGATCCAGAAGATCTGCCAGA	0.597000													8	126					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17340936	17340936	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:17340936G>T	ENST00000380647.3	+	11	1840	c.1756G>T	c.(1756-1758)Ggc>Tgc	p.G586C	CNTLN_ENST00000425824.1_Missense_Mutation_p.G586C|CNTLN_ENST00000262360.5_Missense_Mutation_p.G586C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	586						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGGGAAGAAGGCAGTGGCAT	0.393000													7	25					0.0293803	0.0310534	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113702249	113702249	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:113702249C>A	ENST00000297405.5	-	14	2247	c.2003G>T	c.(2002-2004)gGt>gTt	p.G668V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G564V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G668V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G628V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	668	Sushi 3.					integral to membrane|plasma membrane				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						TAAGGGTGTACCAGGATCACC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	48					2.4624e-09	3.76282e-09	1	1	0
ASPM	259266	broad.mit.edu	37	1	197069855	197069855	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:197069855C>A	ENST00000367409.4	-	18	8782	c.8526G>T	c.(8524-8526)cgG>cgT	p.R2842R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2842					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAACTGAATCCGTAGGGCAG	0.408000													4	36					0.150653	0.153477	1	1	0
LCE1A	353131	broad.mit.edu	37	1	152800040	152800040	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152800040C>A	ENST00000335123.2	+	1	92	c.92C>A	c.(91-93)cCa>cAa	p.P31Q		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	31	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aagtgccccccaaagtgtccc	0.667000													20	295					1.00905e-13	1.78578e-13	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829375	146829375	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:146829375G>C	ENST00000361727.3	+	8	1638	c.1122G>C	c.(1120-1122)gtG>gtC	p.V374V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	374					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			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)			CCTATACGGTGCCTGTCTTTT	0.453000										HNSCC(39;0.1)			19	51					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436720	16436720	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:16436720G>C	ENST00000380672.4	-	6	1529	c.1472C>G	c.(1471-1473)gCa>gGa	p.A491G	BNC2_ENST00000545497.1_Missense_Mutation_p.A396G|BNC2_ENST00000380666.2_Missense_Mutation_p.A491G|BNC2_ENST00000380667.2_Missense_Mutation_p.A424G	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTGGGGTTTGCACTGTGGCG	0.473000													28	93					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884247	39884247	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:39884247G>T	ENST00000341184.6	+	2	1110	c.895G>T	c.(895-897)Gac>Tac	p.D299Y		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	299					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCTCACCCAGGACGGCGTCTC	0.667000													38	109					1.57019e-19	3.02511e-19	1	1	0
MS4A4A	51338	broad.mit.edu	37	11	60048189	60048189	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:60048189G>T	ENST00000337908.4	+	1	131	c.41_splice	c.e1+1	p.S14_splice	MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Splice_Site_p.S14_splice	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	14						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCTGAAGAAAGGTAGGTCCAG	0.507000													5	46					0.000602214	0.000699672	1	1	0
GAP43	2596	broad.mit.edu	37	3	115395237	115395237	+	Silent	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:115395237C>G	ENST00000393780.3	+	3	984	c.516C>G	c.(514-516)ggC>ggG	p.G172G	GAP43_ENST00000305124.6_Silent_p.G136G	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAAGGCCGGCTCAGCTGAGA	0.587000													6	48					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927063	166927063	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:166927063C>T	ENST00000271417.3	-	2	377	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	ILDR2_ENST00000525740.1_Missense_Mutation_p.G108S|ILDR2_ENST00000529071.1_Missense_Mutation_p.G108S|ILDR2_ENST00000469934.2_Missense_Mutation_p.G108S|ILDR2_ENST00000529387.1_Missense_Mutation_p.G108S|ILDR2_ENST00000528703.1_Missense_Mutation_p.G108S|ILDR2_ENST00000526687.1_Missense_Mutation_p.G108S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	108	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGTCGAGCCCTGTTTTGAA	0.498000													25	60					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941822	18941822	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:18941822A>T	ENST00000380534.4	-	3	513	c.234T>A	c.(232-234)ccT>ccA	p.P78P	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	78										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCACTTTGTGAGGCCCAAAAT	0.463000													17	52					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72400883	72400883	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:72400883C>G	ENST00000357731.4	-	2	527	c.288G>C	c.(286-288)ttG>ttC	p.L96F	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.L94F|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	96	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCCTTTTATTCAATGTTGAAA	0.448000													15	34					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455880	5455880	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:5455880C>A	ENST00000222033.4	+	1	455	c.378C>A	c.(376-378)ccC>ccA	p.P126P		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	126	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCCTGGCCCCCGAGGGCATAC	0.692000													52	77					6.77423e-14	1.21872e-13	1	1	0
CBFA2T3	863	broad.mit.edu	37	16	88947753	88947753	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:88947753G>T	ENST00000268679.4	-	9	1744	c.1348C>A	c.(1348-1350)Ccc>Acc	p.P450T	RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P364T|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P374T|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P364T|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P412T|RP11-830F9.5_ENST00000562574.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	450					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		gccgcggcgggagcggggccc	0.741000			T	RUNX1	AML								3	18					6.4e-05	7.7695e-05	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5956210	5956210	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:5956210G>T	ENST00000379999.5	+	9	1631	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	FBXO18_ENST00000379994.1_Silent_p.V195V|FBXO18_ENST00000362091.4_Silent_p.V458V|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	458					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTCTCCAGGTGGTGAAAATTA	0.453000													16	47					4.14922e-12	6.97032e-12	1	1	0
INO80C	125476	broad.mit.edu	37	18	33048704	33048704	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:33048704G>A	ENST00000334598.7	-	5	566	c.450C>T	c.(448-450)gcC>gcT	p.A150A	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Silent_p.A186A|INO80C_ENST00000590757.1_Silent_p.A53A|INO80C_ENST00000592173.1_Intron|INO80C_ENST00000586489.1_Silent_p.A95A	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	150					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGTGTAGTTGGCCTGGGTGA	0.473000													19	81					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506850	11506850	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:11506850G>T	ENST00000500254.2	-	3	224	c.187C>A	c.(187-189)Caa>Aaa	p.Q63K	PRB1_ENST00000546254.1_Missense_Mutation_p.Q63K|PRB1_ENST00000545626.1_Missense_Mutation_p.Q63K	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	246	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGCCTCCTTGTGGGGGTGGT	0.602000													14	286					4.4004e-07	5.97983e-07	1	1	0
PODN	127435	broad.mit.edu	37	1	53543413	53543413	+	Silent	SNP	C	C	A	rs138179023		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:53543413C>A	ENST00000371500.3	+	9	1223	c.882C>A	c.(880-882)cgC>cgA	p.R294R	PODN_ENST00000395871.2_Silent_p.R171R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.R313R	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	265					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAGCCTGCGCGAGCTATACC	0.612000													35	182					1.76533e-06	2.33231e-06	1	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869766	151869766	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:151869766C>G	ENST00000329342.5	+	3	681	c.456C>G	c.(454-456)agC>agG	p.S152R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	152	MAGE.		S -> I (in dbSNP:rs7056365).				protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTTCAGCAAAGCTTCCG	0.547000													75	152					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243730	1243730	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:1243730G>T	ENST00000324642.3	+	9	1315	c.1192G>T	c.(1192-1194)Ggg>Tgg	p.G398W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G327W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	398					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCACATGCCGGGGGCTCCTGT	0.652000													28	125					1.77063e-15	3.24687e-15	1	1	0
SEC22A	26984	broad.mit.edu	37	3	122990393	122990393	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:122990393G>T	ENST00000309934.4	+	6	1644	c.748G>T	c.(748-750)Ggc>Tgc	p.G250C	SEC22A_ENST00000492595.1_Missense_Mutation_p.G250C|SEC22A_ENST00000481965.2_Silent_p.P91P	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTACTACACCGGCTGGCGGAA	0.343000													9	37					3.09899e-07	4.23398e-07	1	1	0
BAI3	577	broad.mit.edu	37	6	69640475	69640475	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:69640475C>T	ENST00000370598.1	+	4	1603	c.782C>T	c.(781-783)aCa>aTa	p.T261I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	261					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAGATCATACAATTAAAAGT	0.363000													10	17					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264945	50264945	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:50264945C>A	ENST00000284509.6	-	13	1218	c.1077G>T	c.(1075-1077)tgG>tgT	p.W359C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.W359C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	359					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTTCCGGTCCCAGTTTATAA	0.393000													3	19					0.115264	0.118856	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768498	31768498	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:31768498C>A	ENST00000240587.4	-	2	2528	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	734					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCTTGCCCAGGTGAAT	0.607000													26	49					9.39395e-14	1.66639e-13	1	1	0
PASD1	139135	broad.mit.edu	37	X	150840123	150840123	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:150840123C>A	ENST00000370357.4	+	13	1554	c.1309C>A	c.(1309-1311)Caa>Aaa	p.Q437K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	437						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACAGAAACAACACGCTGG	0.483000													26	103					2.44723e-14	4.43415e-14	1	1	0
HECTD2	143279	broad.mit.edu	37	10	93256105	93256105	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:93256105G>T	ENST00000446394.1	+	16	1768	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	HECTD2_ENST00000298068.5_Silent_p.V552V|HECTD2_ENST00000371667.1_Silent_p.V202V|HECTD2_ENST00000536715.1_Silent_p.V141V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	552	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATGTTACCGTGGACGACTTAT	0.383000													8	17					5.18039e-06	6.69317e-06	1	1	0
ANXA11	311	broad.mit.edu	37	10	81929007	81929007	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:81929007G>A	ENST00000438331.1	-	6	761	c.279C>T	c.(277-279)ccC>ccT	p.P93P	ANXA11_ENST00000535999.1_Silent_p.P93P|ANXA11_ENST00000537102.1_Silent_p.P60P|ANXA11_ENST00000360615.4_Silent_p.P93P|ANXA11_ENST00000265447.4_Silent_p.P93P|ANXA11_ENST00000422982.3_Silent_p.P93P|ANXA11_ENST00000372231.3_Silent_p.P93P	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	93					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGCAGAGGGGGGCTGCCCAA	0.652000													6	12					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708129	43708129	+	Silent	SNP	C	C	T	rs141396862		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:43708129C>T	ENST00000405312.3	-	2	576	c.339G>A	c.(337-339)acG>acA	p.T113T	PSG4_ENST00000433626.2_Silent_p.T113T|PSG4_ENST00000244295.9_Silent_p.T113T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	113	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CATCCTCCTGCGTGACATTCT	0.458000													10	210					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131923330	131923330	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:131923330G>T	ENST00000378823.3	+	6	1234	c.416G>T	c.(415-417)cGa>cTa	p.R139L	RAD50_ENST00000265335.6_Missense_Mutation_p.R278L|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	278					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGATAGCCGAAAGAAGCAA	0.303000								Homologous recombination					4	23					0.150653	0.153477	1	1	0
SMR3B	10879	broad.mit.edu	37	4	71255480	71255480	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:71255480C>T	ENST00000304915.3	+	3	304	c.155C>T	c.(154-156)cCa>cTa	p.P52L	SMR3B_ENST00000504825.1_Missense_Mutation_p.P52L	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCTCCTCCTCCACCCTATGGT	0.597000													26	99					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950040	85950040	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:85950040C>A	ENST00000373131.1	+	4	913	c.750C>A	c.(748-750)tcC>tcA	p.S250S	DACH2_ENST00000508860.1_Silent_p.S96S|DACH2_ENST00000510272.1_Silent_p.S44S|DACH2_ENST00000373125.4_Silent_p.S263S	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGAATCCTCCTGGGATAAAG	0.433000													4	37					0.150653	0.153477	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53581872	53581872	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:53581872G>A	ENST00000342160.3	-	60	8673	c.8216C>T	c.(8215-8217)cCt>cTt	p.P2739L	HUWE1_ENST00000262854.6_Missense_Mutation_p.P2739L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2739					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCAGGCATAGGCGTCCCATC	0.502000													8	19					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064536	30064536	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:30064536G>T	ENST00000201979.2	+	2	581	c.288G>T	c.(286-288)ttG>ttT	p.L96F	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	96					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCAGCTTGGCCAGCCTCT	0.582000													14	25					2.61681e-11	4.31973e-11	1	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173825957	173825957	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:173825957G>T	ENST00000264111.6	+	8	882		c.e8+1		RAPGEF4_ENST00000397087.3_Splice_Site|RAPGEF4_ENST00000397081.3_Splice_Site|RAPGEF4_ENST00000409036.1_Splice_Site|RAPGEF4_ENST00000539331.1_Splice_Site|RAPGEF4_ENST00000540783.1_Splice_Site|RAPGEF4_ENST00000538974.1_Splice_Site|RAPGEF4_ENST00000535187.1_Splice_Site|RAPGEF4_ENST00000473043.1_Splice_Site			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGACATACAGGTATGTGTGCT	0.423000													18	44					3.52763e-06	4.59679e-06	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12542629	12542629	+	Silent	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:12542629A>G	ENST00000301547.5	-	4	554	c.357T>C	c.(355-357)aaT>aaC	p.N119N	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	119					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGATGTAACAATTAAGGGATG	0.433000													21	27					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241753	34241753	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:34241753G>A	ENST00000374114.3	-	3	1755	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R498C|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R498C|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	498	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGAATAAAGCGATTGCCCATG	0.413000													5	87					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890463	55890463	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55890463C>A	ENST00000313472.3	+	1	615	c.615C>A	c.(613-615)tcC>tcA	p.S205S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCGCTGGTTCCACCCTGATGG	0.408000													16	118					1.3612e-06	1.81414e-06	1	1	0
MYH4	4622	broad.mit.edu	37	17	10348296	10348296	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:10348296G>T	ENST00000255381.2	-	37	5573	c.5463C>A	c.(5461-5463)gcC>gcA	p.A1821A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1821					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACCTACCCTGGCCTCCAGTT	0.532000													9	111					0.0477658	0.0500685	1	1	0
PCNX	22990	broad.mit.edu	37	14	71502789	71502789	+	Missense_Mutation	SNP	G	G	C	rs144988847	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:71502789G>C	ENST00000304743.2	+	19	4228	c.3782G>C	c.(3781-3783)cGa>cCa	p.R1261P	PCNX_ENST00000439984.3_Missense_Mutation_p.R1150P|PCNX_ENST00000238570.5_Missense_Mutation_p.R1261P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1261						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGAGTGAGCGATTACAGTCT	0.308000													26	44					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513546	26513546	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:26513546G>T	ENST00000376261.3	+	6	1193	c.690G>T	c.(688-690)tgG>tgT	p.W230C	GAD2_ENST00000259271.3_Missense_Mutation_p.W230C|GAD2_ENST00000376248.1_Missense_Mutation_p.W116C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	230					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCATTGGCTGGCCAGGGGGCT	0.393000													8	28					0.000157383	0.00018802	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50444305	50444305	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:50444305G>A	ENST00000331340.3	+	4	390	c.235G>A	c.(235-237)Gcg>Acg	p.A79T	IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.A79T|IKZF1_ENST00000440768.2_Missense_Mutation_p.A79T|IKZF1_ENST00000359197.5_Missense_Mutation_p.A79T|IKZF1_ENST00000439701.1_Missense_Mutation_p.A79T|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.A79T	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	79					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGAAGAATGTGCGGAGGATTT	0.498000			"""D,T"""	BCL6	"""ALL, DLBCL"""								14	73					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052202	132052202	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:132052202G>T	ENST00000286355.5	-	1	2470	c.378C>A	c.(376-378)gaC>gaA	p.D126E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D126E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	126					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)			GGAAGCCCAGGTCGCCCCCGC	0.652000										HNSCC(32;0.087)			8	16					5.18039e-06	6.69317e-06	1	1	0
TBC1D2	55357	broad.mit.edu	37	9	100963925	100963925	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:100963925C>A	ENST00000375066.5	-	11	2384	c.2293G>T	c.(2293-2295)Gac>Tac	p.D765Y	TBC1D2_ENST00000375063.1_Missense_Mutation_p.D305Y|TBC1D2_ENST00000342112.5_Missense_Mutation_p.D547Y|TBC1D2_ENST00000375064.1_Missense_Mutation_p.D765Y	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	765	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GAGAGCAGGTCCTGGAGCACC	0.652000													19	43					4.96729e-08	7.10547e-08	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627000													30	67					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:44149840C>T	ENST00000223357.3	+	11	1600	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632000													8	99					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27512357	27512357	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:27512357C>T	ENST00000396271.3	-	5	526	c.400G>A	c.(400-402)Gag>Aag	p.E134K	ACBD5_ENST00000375888.1_Missense_Mutation_p.E132K|ACBD5_ENST00000375905.4_Missense_Mutation_p.E99K|ACBD5_ENST00000375901.1_Missense_Mutation_p.E25K|ACBD5_ENST00000375897.3_Missense_Mutation_p.E25K|ACBD5_ENST00000476758.1_5'UTR	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	132					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCAACTTTCTCAGTCATTGGC	0.338000													19	26					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131967	72131967	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:72131967C>A	ENST00000265381.4	-	2	382	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	54					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGGGCTCGCCCGCGCTGGTGG	0.706000													3	11					0.150653	0.153477	1	1	0
BTN3A3	10384	broad.mit.edu	37	6	26451940	26451940	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:26451940C>T	ENST00000244519.2	+	11	1299	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	BTN3A3_ENST00000339789.4_Silent_p.I310I|BTN3A3_ENST00000361232.3_Silent_p.I303I	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	352	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CAAACGCCATCCTCCTTGTTT	0.542000													7	45					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068986	157068986	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:157068986G>T	ENST00000454449.2	-	2	527	c.243C>A	c.(241-243)ggC>ggA	p.G81G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	81						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				ATTTCCTGCGGCCCCAGAGGC	0.572000													9	90					9.31168e-06	1.18103e-05	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430475	29430475	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:29430475G>C	ENST00000377136.1	+	4	1394	c.929G>C	c.(928-930)aGg>aCg	p.R310T	OR2H1_ENST00000396792.2_Missense_Mutation_p.R310T|OR2H1_ENST00000377133.1_Missense_Mutation_p.R310T|OR2H1_ENST00000442615.1_Missense_Mutation_p.R310T|OR2H1_ENST00000377132.1_Missense_Mutation_p.R310T|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						AGAGACTCCAGGGAAAGCTGG	0.443000													10	31					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411072	23411072	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:23411072G>T	ENST00000379361.4	+	3	2297	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	479			E -> G.		cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACACTTACGAGAGTCACCTAT	0.458000													45	97					8.01111e-26	1.64769e-25	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	rs71299249	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:1388948A>C	ENST00000324803.4	+	1	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	217					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662000													12	170					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732846	152732846	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152732846G>T	ENST00000368773.1	+	2	840	c.782G>T	c.(781-783)cGg>cTg	p.R261L	KPRP_ENST00000606109.1_Missense_Mutation_p.R261L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	261	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGGCGGCTGCAGCTT	0.607000													32	185					3.99451e-17	7.50573e-17	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78973812	78973812	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:78973812G>T	ENST00000545128.1	+	37	6095	c.5557G>T	c.(5557-5559)Gac>Tac	p.D1853Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAATATGATGACGAGAGTTA	0.473000													9	35					5.4927e-09	8.31003e-09	1	1	0
LIPG	9388	broad.mit.edu	37	18	47107849	47107849	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:47107849G>T	ENST00000261292.4	+	6	1136	c.858G>T	c.(856-858)gtG>gtT	p.V286V	LIPG_ENST00000427224.2_Silent_p.V212V|LIPG_ENST00000580036.1_Silent_p.V286V|LIPG_ENST00000577628.1_Silent_p.V322V	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	286					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACTCTCTGGTGAATCAGGACA	0.502000													8	57					0.000274275	0.000323101	1	1	0
GRM7	2917	broad.mit.edu	37	3	7348225	7348225	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:7348225C>A	ENST00000486284.1	+	4	1193	c.919C>A	c.(919-921)Cat>Aat	p.H307N	GRM7_ENST00000357716.4_Missense_Mutation_p.H307N|GRM7_ENST00000389336.4_Missense_Mutation_p.H307N|GRM7_ENST00000403881.1_Missense_Mutation_p.H307N|GRM7_ENST00000402647.2_Missense_Mutation_p.H307N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	307					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCAAGTTGGCCATTTTCTTTG	0.468000													11	73					1.58986e-06	2.10415e-06	1	1	0
PDE3B	5140	broad.mit.edu	37	11	14808074	14808074	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:14808074C>T	ENST00000282096.4	+	3	1474	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	PDE3B_ENST00000455098.2_Missense_Mutation_p.P374L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	374					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCCTTCCACCACAAGTCATT	0.433000													15	62					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564431	33564431	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:33564431C>A	ENST00000321505.4	+	1	611	c.431C>A	c.(430-432)gCa>gAa	p.A144E	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A144E|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A144E					KIAA1549-like																		TCTGCCACTGCAAATGACTCT	0.532000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	57					5.50884e-06	7.05762e-06	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37307352	37307352	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:37307352C>T	ENST00000373091.3	-	10	1531	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	GRIK3_ENST00000373093.4_Silent_p.K505K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	505					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGATGAGCTCCTTGACCATGC	0.607000													8	100					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44580851	44580851	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:44580851C>A	ENST00000322927.2	-	20	3224	c.3124G>T	c.(3124-3126)Gct>Tct	p.A1042S	ZNF335_ENST00000426788.1_Missense_Mutation_p.A887S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCAGGCCCAGCGTGGGCCCGC	0.627000													25	23					1.42536e-11	2.36833e-11	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117131614	117131614	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:117131614C>A	ENST00000369486.3	-	8	2907	c.2142G>T	c.(2140-2142)gcG>gcT	p.A714A	IGSF3_ENST00000369483.1_Silent_p.A734A|IGSF3_ENST00000318837.6_Silent_p.A734A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	714	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACCAGAGCACCGCAAAGTGGG	0.537000													6	89					0.0293803	0.0310534	1	1	0
RUVBL1	8607	broad.mit.edu	37	3	127820453	127820453	+	Silent	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:127820453T>A	ENST00000464873.1	-	5	1122	c.372A>T	c.(370-372)cgA>cgT	p.R124R	RUVBL1_ENST00000417360.1_Silent_p.R184R|RUVBL1_ENST00000322623.5_Silent_p.R184R			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	184					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CAGCTTCTACTCGCTCTTTCT	0.413000													53	126					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593516	137593516	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:137593516C>A	ENST00000274721.3	-	4	843	c.597G>T	c.(595-597)caG>caT	p.Q199H	GFRA3_ENST00000378362.3_Missense_Mutation_p.Q168H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	199					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAGTGAGCAGCTGCCTGAGGC	0.692000													24	42					2.89027e-11	4.75053e-11	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845238	248845238	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248845238G>T	ENST00000342623.3	-	1	391	c.368C>A	c.(367-369)gCc>gAc	p.A123D		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GTGGCAAATGGCAACATAGCG	0.507000													4	37					0.00909568	0.0098883	1	1	0
SUN1	23353	broad.mit.edu	37	7	892570	892570	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:892570G>T	ENST00000456758.2	+	15	1601	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L	SUN1_ENST00000413514.2_Missense_Mutation_p.R154L|SUN1_ENST00000452783.2_Missense_Mutation_p.R242L|SUN1_ENST00000405266.1_Missense_Mutation_p.R382L|SUN1_ENST00000425407.2_Missense_Mutation_p.R262L|SUN1_ENST00000389574.3_Missense_Mutation_p.R262L|SUN1_ENST00000401592.1_Missense_Mutation_p.R345L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	372					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGACTTCTCGCCTGAAGCAG	0.552000													8	66					0.0381472	0.0402078	1	1	0
GK	2710	broad.mit.edu	37	X	30715865	30715865	+	Splice_Site	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:30715865T>A	ENST00000378946.3	+	9	925	c.747_splice	c.e9+1	p.V249_splice	GK_ENST00000427190.1_Splice_Site_p.V44_splice|GK_ENST00000378943.3_Intron|GK_ENST00000378945.3_Intron	NM_000167.5|NM_001205019.1|NM_203391.3	NP_000158.1|NP_001191948.1|NP_976325.1	P32189	GLPK_HUMAN	glycerol kinase	249					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TCTCATAGCGTGGTGAGTAGG	0.373000													20	51					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213836	102213836	+	Splice_Site	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:102213836C>G	ENST00000520347.1	-	2	3090	c.135_splice	c.e2+1	p.R45_splice	ZNF706_ENST00000519744.1_Splice_Site_p.R45_splice|ZNF706_ENST00000518336.1_Splice_Site_p.R45_splice|ZNF706_ENST00000519882.1_Splice_Site_p.R45_splice|ZNF706_ENST00000521272.1_Splice_Site_p.R45_splice|ZNF706_ENST00000520984.1_Splice_Site_p.R45_splice|ZNF706_ENST00000311212.4_Splice_Site_p.R45_splice|ZNF706_ENST00000517844.1_Splice_Site_p.R45_splice			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	45						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			TCCCCTTACCCTACAGACAGT	0.403000													21	59					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072507	75072507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:75072507C>A	ENST00000326665.5	-	10	1485	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.E226*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	423	Glu-rich.							p.E423*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTTCAGTTCCTCTCCTTTC	0.403000													27	56					2.48779e-11	4.12464e-11	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123274745	123274745	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:123274745C>A	ENST00000358487.5	-	9	1445	c.1173G>T	c.(1171-1173)atG>atT	p.M391I	FGFR2_ENST00000357555.5_Missense_Mutation_p.M302I|FGFR2_ENST00000346997.2_Missense_Mutation_p.M391I|FGFR2_ENST00000356226.4_Missense_Mutation_p.M276I|FGFR2_ENST00000351936.6_Missense_Mutation_p.M391I|FGFR2_ENST00000360144.3_Missense_Mutation_p.M303I|FGFR2_ENST00000478859.1_Missense_Mutation_p.M163I|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.M277I|FGFR2_ENST00000457416.2_Missense_Mutation_p.M392I|FGFR2_ENST00000369056.1_Missense_Mutation_p.M392I|FGFR2_ENST00000369061.4_Missense_Mutation_p.M279I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	391					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGTTACCACCATACAGGCGA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				32	47					5.09552e-08	7.27522e-08	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123099538	123099538	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:123099538G>T	ENST00000333479.7	+	56	6055	c.5877_splice	c.e56-1	p.A1960_splice	KNTC1_ENST00000537348.1_Splice_Site_p.A385_splice|KNTC1_ENST00000450485.2_Splice_Site_p.A885_splice|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1960					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGGCTTCAGGCAGTAAGATT	0.383000													3	10					0.004672	0.00517524	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53555067	53555067	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:53555067C>A	ENST00000025008.5	-	18	4704	c.4181G>T	c.(4180-4182)aGt>aTt	p.S1394I	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S1394I|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S1394I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1394					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAACTGCTACTACGCAACTT	0.438000													20	53					1.96292e-10	3.1382e-10	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8341205	8341205	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:8341205A>G	ENST00000381196.4	-	38	5554	c.5011T>C	c.(5011-5013)Ttc>Ctc	p.F1671L	PTPRD_ENST00000397617.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000358503.5_Missense_Mutation_p.F1649L|PTPRD_ENST00000397611.3_Missense_Mutation_p.F1261L|PTPRD_ENST00000397606.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000360074.4_Missense_Mutation_p.F1658L|PTPRD_ENST00000355233.5_Missense_Mutation_p.F1265L|PTPRD_ENST00000537002.1_Missense_Mutation_p.F1261L|PTPRD_ENST00000356435.5_Missense_Mutation_p.F1671L|PTPRD_ENST00000486161.1_Missense_Mutation_p.F1264L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F1671L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1671	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		CGATTTTTGAATTTATTACAT	0.393000										TSP Lung(15;0.13)			28	69					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43842951	43842951	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:43842951G>A	ENST00000282059.6	+	5	1456	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	C18orf25_ENST00000321319.6_Missense_Mutation_p.G300D	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	361										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CATGGCTCGGGCACGCAGTAT	0.493000													5	36					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62203652	62203652	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:62203652C>A	ENST00000467148.1	-	1	156	c.87G>T	c.(85-87)acG>acT	p.T29T	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CAAGGGGGGCCGTGCGCCCGT	0.716000													8	3					0.00448238	0.0050016	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32506128	32506128	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:32506128G>T	ENST00000266088.4	+	15	2173	c.1923G>T	c.(1921-1923)tgG>tgT	p.W641C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.W514C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	641					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGCCTTTGTGGAGGACAGTGT	0.483000													8	31					0.000157383	0.00018802	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141819627	141819627	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:141819627C>A	ENST00000389484.3	-	8	2200	c.1229G>T	c.(1228-1230)gGc>gTc	p.G410V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	410					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTTGTCTGCCTTGAATGAC	0.353000										TSP Lung(27;0.18)			6	46					0.00116845	0.00133311	1	1	0
RASL12	51285	broad.mit.edu	37	15	65347491	65347491	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:65347491C>A	ENST00000220062.4	-	5	823	c.547G>T	c.(547-549)Gca>Tca	p.A183S	RASL12_ENST00000434605.2_Missense_Mutation_p.A172S|RASL12_ENST00000421977.3_Missense_Mutation_p.A164S	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	183					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCCGCCGTGCCTCTCGCACT	0.657000													3	17					0.00909568	0.0098883	1	1	0
SI	6476	broad.mit.edu	37	3	164760960	164760960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:164760960C>A	ENST00000264382.3	-	17	1953	c.1891G>T	c.(1891-1893)Gga>Tga	p.G631*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	631	Isomaltase.				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			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)	ATGTCTGCTCCAACCTAAATA	0.358000										HNSCC(35;0.089)			4	20					0.150653	0.153477	1	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54684616	54684616	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:54684616C>A	ENST00000355221.3	-	9	1487	c.928G>T	c.(928-930)Gat>Tat	p.D310Y	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.D328Y|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D328Y|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D288Y	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	328					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ATATCTTCATCATCGTACTTC	0.388000													13	48					3.27435e-08	4.80112e-08	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49063300	49063300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:49063300C>A	ENST00000376265.2	-	45	5342	c.5281G>T	c.(5281-5283)Gag>Tag	p.E1761*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1696*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1750*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1761					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTGCCTGCTCATCTAGGTAG	0.642000													12	50					0.000978159	0.00112614	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232649718	232649718	+	Silent	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:232649718G>C	ENST00000366630.1	-	2	1726	c.1368C>G	c.(1366-1368)tcC>tcG	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S456S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCAAGACGGAGACACCTG	0.493000													23	144					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354220	220354220	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:220354220C>T	ENST00000312358.7	+	36	8612	c.8480C>T	c.(8479-8481)cCt>cTt	p.P2827L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2827	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCCCACACCTCCTAGCCAG	0.692000													22	69					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80407049	80407049	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:80407049C>A	ENST00000437807.2	-	3	399	c.82G>T	c.(82-84)Gtt>Ttt	p.V28F	C17orf62_ENST00000583617.1_Missense_Mutation_p.V28F|C17orf62_ENST00000434650.2_Missense_Mutation_p.V28F|C17orf62_ENST00000578919.1_Missense_Mutation_p.V28F|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000577436.1_Missense_Mutation_p.V28F|C17orf62_ENST00000306645.5_Missense_Mutation_p.V28F|C17orf62_ENST00000577732.1_Missense_Mutation_p.V28F|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000585064.1_Missense_Mutation_p.V28F|C17orf62_ENST00000583359.1_Splice_Site|C17orf62_ENST00000578913.1_Missense_Mutation_p.V28F|C17orf62_ENST00000585080.1_Missense_Mutation_p.V28F	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	28						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTTACCAACCAGCAGGGAC	0.542000													3	5					0.004672	0.00517524	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780442	37780442	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:37780442C>A	ENST00000447769.1	+	4	736	c.447C>A	c.(445-447)ccC>ccA	p.P149P	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.P149P			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	149						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTGGTACCCCTGGTTGTCT	0.438000													33	132					2.68265e-12	4.51659e-12	1	1	0
HFE2	148738	broad.mit.edu	37	1	145415733	145415733	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:145415733A>T	ENST00000336751.5	+	3	790	c.552A>T	c.(550-552)acA>acT	p.T184T	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Silent_p.T71T	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	184					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTTTCACACATGCCGTGTCC	0.612000													32	216					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440826	440826	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:440826A>T	ENST00000256509.2	+	26	4022	c.3380A>T	c.(3379-3381)tAc>tTc	p.Y1127F	CHL1_ENST00000397491.2_Missense_Mutation_p.Y1111F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1111					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGTGGAAAGTACTCAGGTAAA	0.338000													17	29					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66328128	66328128	+	RNA	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:66328128G>A	ENST00000502692.1	+	0	2007				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CATCCAGGGTGAGATCCAGAA	0.597000													10	123					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57651101	57651101	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:57651101G>T	ENST00000451169.2	+	5	609	c.249_splice	c.e5-1	p.D84_splice	DHX40_ENST00000251241.4_Splice_Site_p.D183_splice|DHX40_ENST00000425628.3_Splice_Site_p.D106_splice			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	183	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTCTTTCAGGATATCTTATT	0.328000													4	15					0.00024832	0.000294348	1	1	0
GRHL1	29841	broad.mit.edu	37	2	10101349	10101349	+	Translation_Start_Site	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:10101349G>A	ENST00000324883.5	+	0	624				GRHL1_ENST00000324907.9_Silent_p.T151T|GRHL1_ENST00000405379.2_Silent_p.T151T			Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CCATAGCAACGATGCCTACCC	0.547000													6	83					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072428	31072428	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:31072428C>A	ENST00000538906.1	-	3	2605	c.1821G>T	c.(1819-1821)ctG>ctT	p.L607L	ZNF668_ENST00000394983.2_Silent_p.L607L|ZNF668_ENST00000300849.4_Silent_p.L607L|ZNF668_ENST00000426488.2_Silent_p.L630L|ZNF668_ENST00000539836.3_Silent_p.L630L|ZNF668_ENST00000535577.1_Silent_p.L607L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAAAGCCACCAGGGGCTCCA	0.667000													13	70					3.27435e-08	4.80112e-08	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33649788	33649788	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:33649788T>C	ENST00000504830.1	-	8	1540	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H402R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	402	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTCCCATCATGCTGGATGCC	0.517000										HNSCC(64;0.19)			47	53					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538996	145538996	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:145538996G>A	ENST00000369304.3	+	25	3111	c.2936G>A	c.(2935-2937)tGc>tAc	p.C979Y	ITGA10_ENST00000539363.1_Missense_Mutation_p.C836Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.C848Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	979					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCTAGGCTGCTATGTGGTC	0.488000													6	76					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974598	128974598	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:128974598G>T	ENST00000522781.1	-	4	617	c.62C>A	c.(61-63)gCc>gAc	p.A21D	FAM196A_ENST00000424811.2_Missense_Mutation_p.A21D|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	21										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGGCAGGCGGCGGGTTCCAC	0.542000													57	123					2.12129e-23	4.19298e-23	1	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43803252	43803252	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:43803252C>G	ENST00000291532.3	-	8	1627	c.672G>C	c.(670-672)ttG>ttC	p.L224F	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.L224F|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.L224F|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.L308F|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.L222F	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	224	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACTGCGAGAGCAAGGACATGT	0.597000													5	47					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951418	2951418	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:2951418G>T	ENST00000381130.2	+	9	1681	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	561						integral to membrane	arylsulfatase activity|metal ion binding	p.A561T(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTTCCCATGGCTCCCTGAGA	0.502000													6	16					2.0095e-06	2.62303e-06	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322807	55322807	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55322807T>C	ENST00000314644.2	+	1	1025	c.1025T>C	c.(1024-1026)tTc>tCc	p.F342S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATTTACACTTTCAGGAATAAG	0.343000										HNSCC(20;0.049)			7	47					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566664	55566664	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:55566664C>A	ENST00000373965.2	-	36	5124	c.4730G>T	c.(4729-4731)gGg>gTg	p.G1577V	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1574V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				CTTAAAGGGCCCTCCCAGTCG	0.453000										HNSCC(58;0.16)			44	76					1.06522e-23	2.11102e-23	1	1	0
ZNF674	641339	broad.mit.edu	37	X	46388277	46388277	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:46388277G>A	ENST00000523374.1	-	4	293	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ZNF674_ENST00000414387.2_Missense_Mutation_p.A28V	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GTTCTTCTGGGCAGAGTCCAG	0.557000													9	83					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45992814	45992814	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:45992814G>A	ENST00000257821.4	-	7	1088	c.465C>T	c.(463-465)acC>acT	p.T155T	PHF21A_ENST00000323180.6_Silent_p.T155T|PHF21A_ENST00000418153.2_Silent_p.T155T	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	155					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CCATAGCAATGGTAGGTCTCT	0.522000													11	61					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114195618	114195618	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:114195618C>T	ENST00000357077.4	+	15	1549	c.1496C>T	c.(1495-1497)aCa>aTa	p.T499I	ANK2_ENST00000264366.6_Missense_Mutation_p.T499I|ANK2_ENST00000394537.3_Missense_Mutation_p.T499I|ANK2_ENST00000506722.1_Missense_Mutation_p.T478I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	499					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGAACAGACACCTTTACAT	0.448000													10	62					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672287	100672287	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:100672287C>A	ENST00000268070.4	-	12	1751	c.1646G>T	c.(1645-1647)tGg>tTg	p.W549L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	549	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCAGGCGCCCCACGGGCTCCA	0.672000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0.0293803	0.0310534	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8484155	8484155	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:8484155A>T	ENST00000381196.4	-	27	3920	c.3377T>A	c.(3376-3378)gTg>gAg	p.V1126E	PTPRD_ENST00000397617.3_Missense_Mutation_p.V705E|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1104E|PTPRD_ENST00000397611.3_Missense_Mutation_p.V712E|PTPRD_ENST00000397606.3_Missense_Mutation_p.V705E|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1113E|PTPRD_ENST00000355233.5_Missense_Mutation_p.V715E|PTPRD_ENST00000537002.1_Missense_Mutation_p.V712E|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1126E|PTPRD_ENST00000486161.1_Missense_Mutation_p.V715E|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1126E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1126					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		AGGCAGTTGCACAGTAATCAT	0.443000										TSP Lung(15;0.13)			4	72					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74620439	74620439	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:74620439A>T	ENST00000253159.8	+	14	2653	c.2455A>T	c.(2455-2457)Atg>Ttg	p.M819L	ZNF236_ENST00000320610.9_Missense_Mutation_p.M821L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	819					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCCGAGGCCATGCTGGACCT	0.617000													21	107					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636963	248636963	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248636963C>T	ENST00000359594.2	+	1	337	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCTGTGGGATCCAGATGTTCT	0.547000													27	86					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709808	31709808	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr21:31709808C>G	ENST00000382835.2	-	1	204	c.179G>C	c.(178-180)tGc>tCc	p.C60S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	60						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GGTCATTTGGCAGCTGGTGGT	0.453000													19	80					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219528898	219528898	+	Missense_Mutation	SNP	C	C	G	rs146626696	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:219528898C>G	ENST00000295704.2	-	10	1602	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	388					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGTTCTGGCTTTAGG	0.647000													7	197					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995414	57995414	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:57995414G>A	ENST00000316770.2	-	1	976	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCTGCTTTACGGATAATGGCA	0.493000													21	195					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128622927	128622927	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:128622927C>T	ENST00000308982.7	+	10	1062	c.981C>T	c.(979-981)tgC>tgT	p.C327C	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	327						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTACGCCTGCACAAGGAAAC	0.408000													6	39					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125255	126125255	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:126125255G>T	ENST00000373631.3	+	2	207	c.206G>T	c.(205-207)cGg>cTg	p.R69L	CRB2_ENST00000359999.3_Missense_Mutation_p.R69L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	69	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGGAGCCCCGGGGCTGTGCC	0.692000													28	50					4.87955e-14	8.79939e-14	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687005	21687005	+	Silent	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:21687005G>A	ENST00000444366.2	+	1	145	c.144G>A	c.(142-144)gcG>gcA	p.A48A	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	74					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCGCTCCGCGTGGGGACCCT	0.652000													9	23					0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96932194	96932194	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:96932194G>T	ENST00000488633.1	+	1	325	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	36					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CTCGTGCGGCGGCGACCGGAG	0.736000													3	11					0.014758	0.0158628	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49447317	49447317	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:49447317T>A	ENST00000301067.7	-	6	780	c.781A>T	c.(781-783)Act>Tct	p.T261S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.L260fs*8(1)									TTGCGGGCAGTCAGAGCAGTG	0.582000													3	8					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335852	57335852	+	Missense_Mutation	SNP	C	C	A	rs140343570		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:57335852C>A	ENST00000326441.9	-	4	535	c.172G>T	c.(172-174)Gtt>Ttt	p.V58F	PEG3_ENST00000423103.2_Missense_Mutation_p.V58F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	58	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGAGGCCCAACAAATTCCACA	0.507000													26	58					9.57634e-11	1.55386e-10	1	1	0
PTGS1	5742	broad.mit.edu	37	9	125152497	125152497	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:125152497G>T	ENST00000362012.2	+	10	1322	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	PTGS1_ENST00000373698.5_Missense_Mutation_p.M330I|PTGS1_ENST00000223423.4_Missense_Mutation_p.M402I|PTGS1_ENST00000540753.1_Missense_Mutation_p.M377I	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	439					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCAGGAACATGGACCACCACA	0.592000													10	26					1.08611e-07	1.51657e-07	1	1	0
EPG5	57724	broad.mit.edu	37	18	43523984	43523984	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:43523984C>A	ENST00000282041.5	-	8	1813	c.1779G>T	c.(1777-1779)ggG>ggT	p.G593G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	593					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTGCTTTAAACCCAAGAAGAT	0.378000													7	23					0.00198382	0.00222996	1	1	0
GABRR1	2569	broad.mit.edu	37	6	89910980	89910980	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:89910980T>C	ENST00000435811.1	-	2	581	c.127A>G	c.(127-129)Att>Gtt	p.I43V	GABRR1_ENST00000454853.2_Missense_Mutation_p.I60V|GABRR1_ENST00000369451.3_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	60					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CGTCTCAGAATTGGGCTGCCA	0.458000													23	39					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61111447	61111447	+	Splice_Site	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:61111447G>C	ENST00000394900.3	+	12	1331	c.1102_splice	c.e12+1	p.G368_splice		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	368					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTGCAGGAGGTACCAACCC	0.652000													12	79					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791426	41791426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:41791426C>A	ENST00000396930.3	-	18	4855	c.4312G>T	c.(4312-4314)Gag>Tag	p.E1438*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.E1438*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.E1438*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1438					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCCTCATGCTCACTGCTTTCT	0.507000													20	151					1.10513e-12	1.8899e-12	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81593628	81593628	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:81593628C>A	ENST00000356860.3	-	33	2960	c.2622G>T	c.(2620-2622)ctG>ctT	p.L874L	CACNA2D1_ENST00000356253.5_Silent_p.L886L|CACNA2D1_ENST00000535308.1_Silent_p.L86L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	886						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATATATTAACCAGGTGTCTCA	0.383000													14	24					1.05317e-09	1.63231e-09	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687004	21687004	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr20:21687004C>A	ENST00000444366.2	+	1	144	c.143C>A	c.(142-144)gCg>gAg	p.A48E	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	74					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCGCTCCGCGTGGGGACCC	0.647000													9	24					0.000274275	0.000323101	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128116	147128116	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:147128116G>T	ENST00000282928.4	+	1	946	c.217G>T	c.(217-219)Gct>Tct	p.A73S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	73	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGGCTACGCGGCTGCTGCGGC	0.687000													11	31					4.68919e-08	6.7457e-08	1	1	0
ARMCX2	9823	broad.mit.edu	37	X	100912145	100912145	+	Missense_Mutation	SNP	C	C	T	rs149321969	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:100912145C>T	ENST00000328766.5	-	5	883	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G144R|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G144R	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	144	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGTCACCCCGGGAGGTGGT	0.637000													10	108					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829414	146829414	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:146829414C>A	ENST00000361727.3	+	8	1677	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					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			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)			TGGAGGTGCCCGGACGGCTTA	0.478000										HNSCC(39;0.1)			9	57					2.17888e-05	2.71824e-05	1	1	0
ANXA11	311	broad.mit.edu	37	10	81932595	81932595	+	Missense_Mutation	SNP	G	G	A	rs147334030	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:81932595G>A	ENST00000438331.1	-	4	505	c.23C>T	c.(22-24)cCg>cTg	p.P8L	ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	8					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			ACCTGGGGGCGGGGGATAGCC	0.622000													28	37					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160106029	160106029	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:160106029G>A	ENST00000538183.1	-	4	540	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SOD2_ENST00000444946.2_Intron|SOD2_ENST00000337404.4_Missense_Mutation_p.S88F|SOD2_ENST00000367055.4_Missense_Mutation_p.S127F|SOD2_ENST00000367054.2_Missense_Mutation_p.S88F|SOD2_ENST00000546087.1_Missense_Mutation_p.S81F	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	127					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CTTGTCAAAGGAACCAAAGTC	0.418000													4	42					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486611	125486611	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:125486611C>T	ENST00000259466.1	+	1	343	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGACAGCTACCTGCTGGCCTC	0.483000													32	86					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85973030	85973030	+	Missense_Mutation	SNP	G	G	T	rs142045222		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:85973030G>T	ENST00000372117.3	+	16	2069	c.1966G>T	c.(1966-1968)Gtg>Ttg	p.V656L	CDHR1_ENST00000332904.3_Missense_Mutation_p.V656L|CDHR1_ENST00000440770.2_Missense_Mutation_p.V360L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	656	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCCCTAGAGGTGCAGGCCAA	0.557000													46	89					3.77016e-25	7.65091e-25	1	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798206	148798206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:148798206G>T	ENST00000355220.5	+	5	1162	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E325*	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	354	MAGE.					cytoplasm|nucleus	protein binding	p.A77A(1)|p.E354K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCTTTGGGGAGCCCAAGAG	0.542000													53	207					6.3008e-33	1.33936e-32	1	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395801	38395801	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:38395801A>G	ENST00000377698.3	+	2	209	c.56A>G	c.(55-57)tAc>tGc	p.Y19C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	19					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACCGCCCGCTACTCCTCGGCA	0.582000													14	151					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397404	69397404	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:69397404C>G	ENST00000303714.4	+	14	1394	c.1072C>G	c.(1072-1074)Cct>Gct	p.P358A	ANTXR1_ENST00000409349.3_Missense_Mutation_p.P358A	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	358					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCCTCCACCCCCTGCCGAGGA	0.562000									Familial Infantile Hemangioma				14	47					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888128	131888128	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:131888128G>T	ENST00000359827.3	-	11	3311	c.2349C>A	c.(2347-2349)gtC>gtA	p.V783V	PLXNA4_ENST00000321063.4_Silent_p.V783V			Q9HCM2	PLXA4_HUMAN	plexin A4	783						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATTCCACACGACTGTCAACT	0.552000													21	55					6.44725e-10	1.01792e-09	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996597	140996597	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:140996597C>A	ENST00000285879.4	+	4	3693	c.3407C>A	c.(3406-3408)tCc>tAc	p.S1136Y	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S203Y	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1136							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTCATGTCCCCCAGCTTC	0.517000										HNSCC(15;0.026)			7	52					0.00307968	0.0034516	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982355	57982355	+	Missense_Mutation	SNP	A	A	T	rs146809144		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:57982355A>T	ENST00000309433.6	+	1	139	c.139A>T	c.(139-141)Atg>Ttg	p.M47L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTTCTTGGGTATGTACCTGGT	0.448000													14	85					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229117	90229117	+	RNA	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:90229117C>A	ENST00000390278.2	+	0	73																											CTCTGGCTCCCAGGTAAGGAA	0.527000													32	140					1.62565e-12	2.75527e-12	1	1	0
C7	730	broad.mit.edu	37	5	40959645	40959645	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:40959645C>A	ENST00000313164.9	+	12	1943	c.1584C>A	c.(1582-1584)ccC>ccA	p.P528P		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	528	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACCCACCTCCCAGTGGGGGTG	0.552000													6	17					2.7689e-08	4.09947e-08	1	1	0
KLF4	9314	broad.mit.edu	37	9	110248040	110248040	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:110248040G>T	ENST00000374672.4	-	5	1905	c.1432C>A	c.(1432-1434)Cat>Aat	p.H478N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	512	Interaction with target DNA (By similarity).				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						ATTTAAAAATGCCTCTTCATG	0.507000													8	138					4.68919e-08	6.7457e-08	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319828	21319828	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:21319828G>A	ENST00000583088.1	+	3	2069	c.1174G>A	c.(1174-1176)Gcg>Acg	p.A392T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A392T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGAGGATGAGGCGGACGGAGA	0.652000										Prostate(3;0.18)			8	79					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148578033	148578033	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:148578033C>A	ENST00000340855.6	-	6	932	c.723G>T	c.(721-723)ttG>ttT	p.L241F	IDS_ENST00000370443.4_Missense_Mutation_p.L241F|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.L241F|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.L30F	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	241						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAAGGGATACAACTTCTGAA	0.512000													19	121					2.4624e-09	3.76282e-09	1	1	0
RYR1	6261	broad.mit.edu	37	19	38973743	38973743	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:38973743G>C	ENST00000355481.4	+	32	4828	c.4697G>C	c.(4696-4698)gGg>gCg	p.G1566A	RYR1_ENST00000359596.3_Missense_Mutation_p.G1566A|RYR1_ENST00000360985.3_Missense_Mutation_p.G1566A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1566	6 X approximate repeats.|B30.2/SPRY 3.				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			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)	TTTGAGCTGGGGAAGCAGAAG	0.607000													4	82					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924072	188924072	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:188924072G>T	ENST00000326866.4	+	4	519	c.111G>T	c.(109-111)caG>caT	p.Q37H	ZFP42_ENST00000509524.1_Missense_Mutation_p.Q37H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	37					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGACCTGCAGGCGGAAATAG	0.567000													11	80					4.68919e-08	6.7457e-08	1	1	0
CASR	846	broad.mit.edu	37	3	122002829	122002829	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:122002829G>T	ENST00000498619.1	+	7	2496	c.2058G>T	c.(2056-2058)acG>acT	p.T686T	CASR_ENST00000490131.1_Silent_p.T676T|CASR_ENST00000296154.5_Silent_p.T676T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	676			I -> V (in IGE8; patients present juvenile myoclonus epilepsy).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGACTGGACGTGCCGCCTGC	0.602000													14	152					3.27435e-08	4.80112e-08	1	1	0
PPP1R7	5510	broad.mit.edu	37	2	242097241	242097241	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:242097241G>T	ENST00000234038.6	+	3	675	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PPP1R7_ENST00000407025.1_Silent_p.V67V|PPP1R7_ENST00000272983.8_Silent_p.V24V|PPP1R7_ENST00000406106.3_Silent_p.V67V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000404405.3_Silent_p.V67V|PPP1R7_ENST00000402734.1_Silent_p.V8V|PPP1R7_ENST00000401987.1_Silent_p.V24V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	67						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AGCTGCCTGTGGACATGGAAA	0.502000													6	27					2.0095e-06	2.62303e-06	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149899	34149899	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:34149899C>A	ENST00000346193.3	-	1	548	c.497G>T	c.(496-498)tGt>tTt	p.C166F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	166										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGGGTCTCACAACAAGCCCA	0.552000													46	55					1.76056e-25	3.59191e-25	1	1	0
GPR115	221393	broad.mit.edu	37	6	47682590	47682590	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:47682590A>T	ENST00000283303.2	+	6	1867	c.1609A>T	c.(1609-1611)Aca>Tca	p.T537S	GPR115_ENST00000371220.1_Missense_Mutation_p.T594S|GPR115_ENST00000327753.3_Missense_Mutation_p.T537S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	537					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTTGCTATCACAGAGCCAGA	0.488000													45	162					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165503969	165503969	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:165503969A>T	ENST00000264381.3	-	3	1814	c.1648T>A	c.(1648-1650)Tgg>Agg	p.W550R	BCHE_ENST00000540653.1_Missense_Mutation_p.W12R	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	550					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.W550R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATGATGTCCAGAATCGACAT	0.353000													3	21					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695936	45695936	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:45695936G>T	ENST00000303230.4	-	1	317	c.260C>A	c.(259-261)cCc>cAc	p.P87H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	87						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						CTGCCGCCGGGGCCCCTCGGC	0.706000													26	25					7.38237e-10	1.15596e-09	1	1	0
SDF2	6388	broad.mit.edu	37	17	26982419	26982419	+	Silent	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:26982419T>A	ENST00000247020.4	-	2	532	c.234A>T	c.(232-234)acA>acT	p.T78T	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	78					protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					TCTCACACACTGTGGCACTCT	0.537000													57	99					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127614382	127614382	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:127614382A>T	ENST00000508053.1	-	63	8264	c.7290T>A	c.(7288-7290)acT>acA	p.T2430T	FBN2_ENST00000262464.4_Silent_p.T2430T			P35556	FBN2_HUMAN	fibrillin 2	2430	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTACTGGGCAGTTCCAGGAA	0.468000													23	54					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300080	23300080	+	RNA	SNP	T	T	C	rs28482434	by1000genomes	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:23300080T>C	ENST00000560464.1	-	0	4207																											TGCTGCACGTTGACAGGCGTG	0.612000													4	43					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804978	50804978	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:50804978G>T	ENST00000440075.2	+	40	5577	c.5530G>T	c.(5530-5532)Ggg>Tgg	p.G1844W	MYH14_ENST00000376970.2_Missense_Mutation_p.G1836W|MYH14_ENST00000262269.8_Missense_Mutation_p.G1844W|MYH14_ENST00000598205.1_Missense_Mutation_p.G1811W|MYH14_ENST00000425460.1_Missense_Mutation_p.G1811W|MYH14_ENST00000601313.1_Missense_Mutation_p.G1844W|MYH14_ENST00000596571.1_Missense_Mutation_p.G1803W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1803					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCAGAGAGCGGGCGGCAGCA	0.622000													15	46					1.5739e-10	2.52687e-10	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11675828	11675828	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:11675828C>A	ENST00000423059.3	-	2	1202	c.951G>T	c.(949-951)tgG>tgT	p.W317C		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	317						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGTCCCAATATTTGT	0.403000										HNSCC(18;0.044)			39	68					5.20837e-25	1.05414e-24	1	1	0
PDZD2	23037	broad.mit.edu	37	5	31799685	31799685	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:31799685G>T	ENST00000438447.1	+	2	718	c.330G>T	c.(328-330)caG>caT	p.Q110H	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q110H			O15018	PDZD2_HUMAN	PDZ domain containing 2	110	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						AAACCCACCAGGGTCCTGTGC	0.582000													50	79					2.68985e-26	5.54736e-26	1	1	0
MS4A4A	51338	broad.mit.edu	37	11	60048190	60048190	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:60048190G>T	ENST00000355131.3	+	1	61		c.e1+1		MS4A4A_ENST00000337908.4_Splice_Site|MS4A4A_ENST00000532114.1_Splice_Site	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTGAAGAAAGGTAGGTCCAGG	0.507000													4	45					0.00024832	0.000294348	1	1	0
ATAD1	84896	broad.mit.edu	37	10	89536108	89536108	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:89536108C>A	ENST00000308448.7	-	6	1038	c.660G>T	c.(658-660)tgG>tgT	p.W220C	ATAD1_ENST00000400215.3_Missense_Mutation_p.W162C|ATAD1_ENST00000541004.1_Missense_Mutation_p.W220C|ATAD1_ENST00000328142.3_Missense_Mutation_p.W220C	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	220						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CCAATCCATCCCAGAGACTCA	0.403000													14	51					2.32078e-09	3.56791e-09	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203188947	203188947	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:203188947C>A	ENST00000367229.1	-	8	794	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	CHIT1_ENST00000535569.1_Missense_Mutation_p.G245W|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.G235W	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	254					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCAGGGGTCCCCTTCTGCAGC	0.587000											OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	11	44					0.00136819	0.00155171	1	1	0
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880355	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:84880355C>A	ENST00000370665.3	+	6	923	c.890C>A	c.(889-891)tCt>tAt	p.S297Y	DNASE2B_ENST00000370662.3_Missense_Mutation_p.S89Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	297					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGT	0.403000													10	21					0.000442599	0.00051898	1	1	0
OR52K2	119774	broad.mit.edu	37	11	4470980	4470980	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:4470980C>A	ENST00000325719.4	+	1	456	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACCAAGGTCCTGACTGGGT	0.552000													13	78					1.36491e-13	2.40439e-13	1	1	0
POLQ	10721	broad.mit.edu	37	3	121238866	121238866	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:121238866C>A	ENST00000264233.5	-	9	1448	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	440	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTGCCGCCAAGACCCGAA	0.398000								DNA polymerases (catalytic subunits)					10	80					4.68919e-08	6.7457e-08	1	1	0
TENM2	57451	broad.mit.edu	37	5	167643911	167643911	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:167643911G>C	ENST00000519204.1	+	21	3972	c.3854G>C	c.(3853-3855)aGc>aCc	p.S1285T	TENM2_ENST00000518659.1_Missense_Mutation_p.S1406T|TENM2_ENST00000520394.1_Missense_Mutation_p.S1167T|TENM2_ENST00000545108.1_Missense_Mutation_p.S1405T|TENM2_ENST00000403607.2_Missense_Mutation_p.S1230T					teneurin transmembrane protein 2																		TGTGATTCCAGCATGGATGTA	0.527000													13	52					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:43259170G>T	ENST00000404209.4	-	4	1054	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	PSG8_ENST00000406636.3_Missense_Mutation_p.R198S|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.R320S|PSG8_ENST00000401467.2_Missense_Mutation_p.R227S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483000													39	100					1.03484e-13	1.82717e-13	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73848448	73848448	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:73848448C>A	ENST00000523207.1	+	3	1446	c.858C>A	c.(856-858)tcC>tcA	p.S286S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	286					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGACGGAGTCCAACAAGAGCG	0.493000													38	83					1.69901e-12	2.87322e-12	1	1	0
ABCB7	22	broad.mit.edu	37	X	74332752	74332752	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:74332752C>G	ENST00000253577.3	-	3	329	c.305G>C	c.(304-306)gGa>gCa	p.G102A	ABCB7_ENST00000373394.3_Missense_Mutation_p.G101A|ABCB7_ENST00000339447.4_Missense_Mutation_p.G101A	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	101					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGTCCTCCTCCTGCATGACC	0.423000													29	66					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32133937	32133937	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:32133937C>A	ENST00000422437.1	+	10	1058	c.867C>A	c.(865-867)agC>agA	p.S289R	EGFL8_ENST00000395512.1_5'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.S289R|PPT2_ENST00000437001.2_Missense_Mutation_p.A140E|EGFL8_ENST00000333845.6_5'UTR																							AGCGTCAAAGCGAATCATGGG	0.567000													16	50					2.62699e-14	4.74855e-14	1	1	0
CCL7	6354	broad.mit.edu	37	17	32597352	32597352	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:32597352G>T	ENST00000378569.2	+	1	113	c.43G>T	c.(43-45)Gct>Tct	p.A15S	CCL7_ENST00000394627.1_Missense_Mutation_p.A15S|CCL7_ENST00000200307.4_Missense_Mutation_p.A25S|CCL7_ENST00000394630.3_Missense_Mutation_p.A15S	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	15					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTCACAGCAGCTGCTTTCAG	0.552000													14	58					1.49906e-05	1.87938e-05	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438670	120438670	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:120438670C>G	ENST00000369400.1	-	1	448	c.290G>C	c.(289-291)gGg>gCg	p.G97A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	97					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGCAGTTCCCCATGTTCTGT	0.488000													17	36					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133749104	133749104	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:133749104G>T	ENST00000253861.4	+	18	2777	c.2748G>T	c.(2746-2748)caG>caT	p.Q916H	EXOC4_ENST00000545148.1_Missense_Mutation_p.Q526H|EXOC4_ENST00000541309.1_Missense_Mutation_p.Q204H|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q815H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	916					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGGTGGACCAGGGTGTGAAGT	0.587000													19	42					7.21436e-19	1.37943e-18	1	1	0
PGM5P2	595135	broad.mit.edu	37	9	69112869	69112869	+	RNA	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:69112869C>A	ENST00000591037.1	-	0	1182					NR_002836.2																						TTGGCATACTCCTCCCAAACC	0.517000													14	41					9.31168e-06	1.18103e-05	1	1	0
STRA6	64220	broad.mit.edu	37	15	74486213	74486213	+	Silent	SNP	G	G	A	rs3743215		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:74486213G>A	ENST00000323940.5	-	8	893	c.648C>T	c.(646-648)ctC>ctT	p.L216L	STRA6_ENST00000416286.3_Silent_p.L208L|STRA6_ENST00000423167.2_Silent_p.L207L|STRA6_ENST00000395105.4_Silent_p.L216L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.L231L|STRA6_ENST00000563965.1_Silent_p.L255L|STRA6_ENST00000535552.1_Silent_p.L253L|STRA6_ENST00000449139.2_Silent_p.L216L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	216					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCAGGAATCCGAGGCCCAGCA	0.582000													18	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072391	9072391	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:9072391T>G	ENST00000397910.4	-	3	15258	c.15055A>C	c.(15055-15057)Atg>Ctg	p.M5019L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5021	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						ATTCTGCTCATAAGAGTGGTC	0.483000													12	24					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039253	248039253	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:248039253C>A	ENST00000366481.3	+	6	971	c.923C>A	c.(922-924)gCc>gAc	p.A308D	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	308	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTGACCGCCGACCTGCGC	0.572000													9	55					0.00829132	0.00911805	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228020	3228020	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:3228020C>T	ENST00000217939.6	-	7	8378	c.8224G>A	c.(8224-8226)Gtc>Atc	p.V2742I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2742	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTAGATGACCGGGGTGGGC	0.582000													10	79					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151239763	151239763	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:151239763G>T	ENST00000367321.3	+	9	1217	c.943G>T	c.(943-945)Gaa>Taa	p.E315*		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	315	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACTCATTGAGGAAGATGATGT	0.398000													17	43					2.94398e-08	4.35023e-08	1	1	0
KRT82	3888	broad.mit.edu	37	12	52788815	52788815	+	Silent	SNP	G	G	T	rs139996519		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:52788815G>T	ENST00000257974.2	-	9	1563	c.1486C>A	c.(1486-1488)Cgg>Agg	p.R496R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	496	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.R496W(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGATTTCCGCCCGCTCCCA	0.642000													33	62					1.06647e-15	1.96035e-15	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55202103	55202103	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:55202103G>T	ENST00000396834.1	+	11	1678	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C	IL31RA_ENST00000354961.4_Missense_Mutation_p.W394C|IL31RA_ENST00000490985.1_Missense_Mutation_p.W271C|IL31RA_ENST00000396836.2_Missense_Mutation_p.W413C|IL31RA_ENST00000359040.5_Missense_Mutation_p.W413C|IL31RA_ENST00000447346.2_Missense_Mutation_p.W413C|IL31RA_ENST00000297015.3_Missense_Mutation_p.W271C	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	381	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCACGAACTGGACGATCCAGC	0.493000													14	31					1.05317e-09	1.63231e-09	1	1	0
MON2	23041	broad.mit.edu	37	12	62931012	62931012	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:62931012C>T	ENST00000393630.3	+	15	2373	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L	MON2_ENST00000552738.1_Missense_Mutation_p.P638L|MON2_ENST00000552115.1_Missense_Mutation_p.P661L|MON2_ENST00000546600.1_Missense_Mutation_p.P661L|MON2_ENST00000280379.6_Missense_Mutation_p.P661L|MON2_ENST00000393629.2_Missense_Mutation_p.P661L|MON2_ENST00000393632.2_Missense_Mutation_p.P661L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	661					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGGTCAACCTTTAGCAGTC	0.403000													7	24					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113474	75113474	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:75113474G>T	ENST00000290573.2	+	14	2589	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	HK2_ENST00000409174.1_Missense_Mutation_p.M635I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	663	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACTATGATGACCTGTGGCT	0.522000													14	39					0.00316338	0.00354019	1	1	0
TOLLIP	54472	broad.mit.edu	37	11	1298461	1298461	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:1298461G>A	ENST00000527938.1	-	3	330	c.206C>T	c.(205-207)cCg>cTg	p.P69L	TOLLIP_ENST00000542915.1_Silent_p.P161P|TOLLIP_ENST00000317204.6_Silent_p.P211P|TOLLIP_ENST00000525159.1_Silent_p.P150P|TOLLIP_ENST00000263646.7_Silent_p.P183P|TOLLIP_ENST00000527886.1_Silent_p.P142P			Q9H0E2	TOLIP_HUMAN	toll interacting protein	0	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GCACCATGCCGGGGCTACAGA	0.597000													12	43					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2593934	2593934	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:2593934G>A	ENST00000570628.1	-	26	3989	c.3884C>T	c.(3883-3885)tCc>tTc	p.S1295F	CLUH_ENST00000575014.1_Missense_Mutation_p.S1228F|CLUH_ENST00000435359.1_Missense_Mutation_p.S1295F|CLUH_ENST00000538975.1_Missense_Mutation_p.S1295F					clustered mitochondria (cluA/CLU1) homolog																		CGGGGGCTGGGAGCCCAGGTC	0.716000													12	9					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932576	39932576	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:39932576C>A	ENST00000342274.4	-	4	2385	c.2023G>T	c.(2023-2025)Ggc>Tgc	p.G675C	BCOR_ENST00000397354.3_Missense_Mutation_p.G675C|BCOR_ENST00000378455.4_Missense_Mutation_p.G675C|BCOR_ENST00000378444.4_Missense_Mutation_p.G675C	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	675	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCCTTTGCCATGTAAGGAG	0.567000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	19					2.17888e-05	2.71824e-05	1	1	0
OLFM4	10562	broad.mit.edu	37	13	53603101	53603101	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr13:53603101T>G	ENST00000219022.2	+	1	208	c.130T>G	c.(130-132)Tcc>Gcc	p.S44A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	44	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGActccagctccagcttcag	0.607000													45	111					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16918960	16918960	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:16918960C>A	ENST00000377833.4	-	57	9107	c.9042G>T	c.(9040-9042)ctG>ctT	p.L3014L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3014	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAAGTTAAGCAGAACCGGCC	0.473000													24	78					8.24728e-16	1.53452e-15	1	1	0
FLG	2312	broad.mit.edu	37	1	152282086	152282086	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:152282086G>T	ENST00000368799.1	-	3	5311	c.5276C>A	c.(5275-5277)tCt>tAt	p.S1759Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1759	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACGTCCAGACCTTTCCCC	0.587000									Ichthyosis				75	1200					3.88204e-17	7.31245e-17	1	1	0
IGLC2	3538	broad.mit.edu	37	22	23243376	23243376	+	RNA	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr22:23243376G>A	ENST00000390323.2	+	0	221																											ATCTGAGCCTGACGCCTGAGC	0.582000													3	13					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793266	124793266	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:124793266G>T	ENST00000298251.4	-	4	1178	c.773C>A	c.(772-774)aCa>aAa	p.T258K		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	258					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGCACAGACTGTCACCAAGGT	0.498000													16	62					6.94344e-10	1.08948e-09	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129040072	129040072	+	Silent	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:129040072T>A	ENST00000274487.4	+	21	3427	c.3282T>A	c.(3280-3282)ggT>ggA	p.G1094G	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1094	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGCGAATGGGTGACTGGTCTA	0.433000													23	45					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534639	21534639	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:21534639C>A	ENST00000425654.2	+	9	1327	c.847C>A	c.(847-849)Cga>Aga	p.R283R	CNKSR2_ENST00000379510.3_Silent_p.R283R|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Silent_p.R283R	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	283	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAATGCACTACGAGAGGACCC	0.413000													6	97					0.217242	0.218969	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48604356	48604356	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:48604356C>A	ENST00000328333.8	-	110	8317	c.8210G>T	c.(8209-8211)gGa>gTa	p.G2737V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2705V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2737	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCCTGAAGTCCTTCGGGGCC	0.627000													7	25					0.0293803	0.0310534	1	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175275	143175275	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:143175275A>T	ENST00000408916.1	+	1	310	c.310A>T	c.(310-312)Agt>Tgt	p.S104C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	104					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CAGCTGGCTCAGTGTCCTGTT	0.567000													6	70					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242594717	242594717	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:242594717A>T	ENST00000405546.3	+	6	919	c.417A>T	c.(415-417)atA>atT	p.I139I	ATG4B_ENST00000404914.3_Silent_p.I139I|ATG4B_ENST00000402096.1_Silent_p.I65I|ATG4B_ENST00000474739.2_Silent_p.I125I|ATG4B_ENST00000396411.3_Silent_p.I65I			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	139					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GCAAGTCCATAGGCCAGTGGT	0.597000													4	13					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341392	121341392	+	Silent	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:121341392A>T	ENST00000338040.4	+	3	1530	c.1116A>T	c.(1114-1116)ccA>ccT	p.P372P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	372					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTTGTAAGCCAAGTGAACACA	0.483000													19	49					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406028	55406028	+	Silent	SNP	A	A	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55406028A>G	ENST00000314612.2	+	1	195	c.195A>G	c.(193-195)tcA>tcG	p.S65S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTACCTCTCACTCTCCGACC	0.408000													32	66					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54949856	54949856	+	Silent	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:54949856C>G	ENST00000173898.7	+	3	1003	c.891C>G	c.(889-891)ccC>ccG	p.P297P	TRO_ENST00000375022.4_Silent_p.P297P|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Silent_p.P297P|TRO_ENST00000420798.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	297					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTATCAGGCCCAAAAAATCCA	0.507000													3	6					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890462	55890462	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:55890462C>A	ENST00000313472.3	+	1	614	c.614C>A	c.(613-615)tCc>tAc	p.S205Y		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCGCTGGTTCCACCCTGATG	0.408000													16	121					1.3612e-06	1.81414e-06	1	1	0
DMD	1756	broad.mit.edu	37	X	32536136	32536136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:32536136C>A	ENST00000357033.4	-	18	2487	c.2281G>T	c.(2281-2283)Gaa>Taa	p.E761*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E753*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E757*	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	761					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			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)				TTGACTTTTTCTTTTAAGTCT	0.368000													5	26					0.0293803	0.0310534	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111060567	111060567	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:111060567C>A	ENST00000369771.2	-	1	1230	c.843G>T	c.(841-843)tgG>tgT	p.W281C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	281						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGAAGGTGAACCACACGATGC	0.517000													16	78					2.31682e-05	2.8856e-05	1	1	0
RNF113A	7737	broad.mit.edu	37	X	119005484	119005484	+	Silent	SNP	T	T	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:119005484T>C	ENST00000371442.2	-	1	307	c.93A>G	c.(91-93)agA>agG	p.R31R	NDUFA1_ENST00000371437.4_5'UTR	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	31							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCGGGCGCTTTCTGCGTCCAG	0.592000													28	210					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309085	75309085	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr15:75309085C>T	ENST00000361900.6	+	5	495	c.288C>T	c.(286-288)gcC>gcT	p.A96A	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Silent_p.A96A|SCAMP5_ENST00000562212.1_Silent_p.A96A	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	96					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TTTACAAGGCCTTCAAGTAAG	0.517000													19	53					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507055	19507055	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:19507055G>A	ENST00000338883.4	-	2	391	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	131							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGGCTGTCTGGAGACATCGCT	0.483000													12	79					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98304296	98304296	+	Silent	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:98304296G>T	ENST00000264193.2	-	5	1379	c.1161C>A	c.(1159-1161)ctC>ctA	p.L387L		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	387						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCCTCTTCTGAGCTGCTGCC	0.493000													17	124					7.07596e-05	8.57453e-05	1	1	0
ABCA11P	79963	broad.mit.edu	37	4	419564	419564	+	RNA	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:419564C>A	ENST00000451020.2	-	0	1474					NR_002451.2																						AAGAATCTTCCCGTGGGAGAA	0.368000													3	10					0.004672	0.00517524	1	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388096	119388096	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:119388096C>T	ENST00000326624.2	+	2	1054	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	ZBTB33_ENST00000557385.1_Silent_p.L276L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	276					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAACACATCTGACTCCCAA	0.383000													9	50					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175955	140175955	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:140175955C>T	ENST00000526136.1	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA2_ENST00000520672.2_Missense_Mutation_p.P469L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P469L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.662000													22	126					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360366	71360366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:71360366C>T	ENST00000373677.1	+	2	3132	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	NHSL2_ENST00000535692.1_Nonsense_Mutation_p.Q624*|NHSL2_ENST00000540800.1_Nonsense_Mutation_p.Q990*|NHSL2_ENST00000510661.1_Nonsense_Mutation_p.Q759*			F5H593	F5H593_HUMAN	NHS-like 2	990										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTCCAGAGCCAGGAAGAAGC	0.527000													4	26					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766467	124766467	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:124766467G>A	ENST00000306534.3	-	3	985	c.500C>T	c.(499-501)cCc>cTc	p.P167L	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.P22L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	167	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGAGACTGTGGGCTCTGGGTG	0.637000													24	67					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725528	68725528	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:68725528G>T	ENST00000252338.4	+	1	445	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	135						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GCCGGTCTGCGGCGGCGTCCC	0.716000													7	28					0.00198382	0.00222996	1	1	0
RTL1	388015	broad.mit.edu	37	14	101351011	101351011	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:101351011T>G	ENST00000534062.1	-	1	173	c.115A>C	c.(115-117)Agt>Cgt	p.S39R		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	39										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGCACTCCACTGCCCGACGTC	0.587000													3	38					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149826501	149826501	+	Splice_Site	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:149826501G>T	ENST00000370396.2	+	11	1314		c.e11+1		MTM1_ENST00000306167.7_Splice_Site|MTM1_ENST00000413012.2_Splice_Site|MTM1_ENST00000543350.1_Splice_Site|MTM1_ENST00000542741.1_Splice_Site	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1						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			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)					ATTTGCATCTGTGAGTAAACA	0.323000													3	26					0.004672	0.00517524	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245704134	245704134	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:245704134C>G	ENST00000366518.4	+	2	193	c.89C>G	c.(88-90)gCc>gGc	p.A30G	KIF26B_ENST00000407071.2_Missense_Mutation_p.A411G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	411					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTTCCGCTGCCGAACCACCG	0.527000													26	91					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552142	178552142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:178552142A>T	ENST00000251582.7	-	19	2891	c.2790T>A	c.(2788-2790)tgT>tgA	p.C930*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	930	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGTCCGCCCACAGGTCTGGC	0.667000													43	99					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691596	90691596	+	Silent	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:90691596C>A	ENST00000312600.3	+	2	1234	c.1020C>A	c.(1018-1020)ggC>ggA	p.G340G	PABPC5_ENST00000373105.1_Silent_p.G176G	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	340	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGGGCAAGGCAAAGGATTTG	0.468000													10	68					6.40141e-05	7.7695e-05	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669220	234669220	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:234669220G>C	ENST00000360418.3	+	1	287	c.287G>C	c.(286-288)gGg>gCg	p.G96A	UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.G96A|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN		96					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTTAGTCTCGGGCATAATGTT	0.433000													33	71					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369894	10369894	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr17:10369894C>A	ENST00000255381.2	-	3	279	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	57	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCTTCCCCCCTTCCCTGCTC	0.468000													41	80					1.5731e-28	3.28882e-28	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49162352	49162352	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:49162352C>A	ENST00000418109.1	-	22	3055	c.2891G>T	c.(2890-2892)cGa>cTa	p.R964L	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R964L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	964	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCTTCACATCGCAGCCCTGC	0.612000													11	101					3.86212e-05	4.7481e-05	1	1	0
MYCN	4613	broad.mit.edu	37	2	16082270	16082270	+	Silent	SNP	C	C	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr2:16082270C>T	ENST00000281043.3	+	2	381	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	28					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGCCCTGCTTCTACCCGGACG	0.647000			A		neuroblastoma								4	71					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33030644	33030644	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:33030644T>A	ENST00000330899.4	+	5	805	c.622T>A	c.(622-624)Tta>Ata	p.L208I	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Missense_Mutation_p.L51I	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	208					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GAAGAAAATTTTAGAAGTTCA	0.373000													7	15					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414992	43414992	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:43414992G>T	ENST00000187910.2	-	3	511	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	PSG6_ENST00000402603.4_Missense_Mutation_p.S149Y|PSG6_ENST00000292125.2_Missense_Mutation_p.S149Y	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCTGGAGATGGAGGGCTTGGG	0.507000													9	182					5.50884e-06	7.05762e-06	1	1	0
POU5F1B	5462	broad.mit.edu	37	8	128429005	128429005	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:128429005G>T	ENST00000465342.2	+	2	2051	c.894G>T	c.(892-894)gaG>gaT	p.E298D	CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E298D|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGGATTTTGAGGCTGCTGGGT	0.592000													4	21					1.23904e-05	1.55596e-05	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128365338	128365338	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:128365338G>T	ENST00000262462.4	+	9	2631	c.1621G>T	c.(1621-1623)Gtt>Ttt	p.V541F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V541F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V541F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	541					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGAAAAAGTTTATGAACA	0.299000													7	9					1.06961e-07	1.5018e-07	1	1	0
DST	667	broad.mit.edu	37	6	56468749	56468749	+	Silent	SNP	T	T	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:56468749T>A	ENST00000370754.5	-	39	10577	c.10578A>T	c.(10576-10578)gcA>gcT	p.A3526A	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.A3348A|DST_ENST00000370769.4_Silent_p.A3348A|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Silent_p.A3022A|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.A3348A			Q03001	DYST_HUMAN	dystonin	3348					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAATGTTGATGCCCACACAG	0.378000													4	14					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3672108	3672108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:3672108delG	ENST00000294600.2	+	3	614	c.530delG	c.(529-531)cgfs	p.R177fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	177										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTGGCCAGGCGGGGCTCAGAC	0.632													14	252	---	---	---	---					
UBAP2L	9898	broad.mit.edu	37	1	154229620	154229620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr1:154229620delC	ENST00000428931.1	+	19	2406	c.2239delC	c.(2239-2241)ccfs	p.P748fs	UBAP2L_ENST00000361546.2_Frame_Shift_Del_p.P748fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.P748fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.P759fs	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	748					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCTGCACCTCCCCCAGTGGT	0.557													71	106	---	---	---	---					
MASP1	5648	broad.mit.edu	37	3	186953906	186953906	+	Frame_Shift_Del	DEL	G	G	-	rs111908734		TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr3:186953906delG	ENST00000296280.6	-	11	1978	c.1753delC	c.(1753-1755)acfs	p.H585fs	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Frame_Shift_Del_p.H472fs|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	580	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			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)		CCCAGCATGTGGGGGGCCGGG	0.622													16	122	---	---	---	---					
CPZ	8532	broad.mit.edu	37	4	8621242	8621242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr4:8621242delC	ENST00000429646.2	+	9	3474	c.681delC	c.(679-681)ctfs	p.L227fs	CPZ_ENST00000360986.4_Frame_Shift_Del_p.L619fs|CPZ_ENST00000315782.6_Frame_Shift_Del_p.L608fs|CPZ_ENST00000382480.2_Frame_Shift_Del_p.L482fs			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	619					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGACCCGCTCCGGGCGCGCA	0.667													28	47	---	---	---	---					
C7	730	broad.mit.edu	37	5	40934430	40934431	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr5:40934430_40934431delCG	ENST00000313164.9	+	4	501_502	c.142_143delCG	c.(142-144)cfs	p.R50fs		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	50	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTTTAGACTCGCAGGCGGTCA	0.406													10	39	---	---	---	---					
BCLAF1	9774	broad.mit.edu	37	6	136582548	136582549	+	Frame_Shift_Ins	INS	-	-	T	rs61731058	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr6:136582548_136582549insT	ENST00000531224.1	-	12	2863_2864	c.2611_2612insA	c.(2611-2613)tggfs	p.W871fs	BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.W820fs|BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.W869fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.W822fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Frame_Shift_Ins_p.W89fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.W820fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.W698fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	871					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCTCTGCCACGTTGAAAAGTA	0.421													14	213	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802403	100802404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr7:100802403_100802404insT	ENST00000337619.5	+	4	473_474	c.355_356insT	c.(355-357)gggfs	p.G119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TGAGTTTTTGATGGGGGGGGAT	0.564													9	34	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77766866	77766866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr8:77766866delC	ENST00000521891.2	+	10	8157	c.7709delC	c.(7708-7710)gcfs	p.A2570fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A2544fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A2525fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A2525fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2525						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACACCACAGCCCCCACAACG	0.488										HNSCC(33;0.089)			16	76	---	---	---	---					
IFNA8	3445	broad.mit.edu	37	9	21409357	21409358	+	Frame_Shift_Ins	INS	-	-	C	rs144215278	byFrequency	TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:21409357_21409358insC	ENST00000380205.1	+	1	212_213	c.182_183insC	c.(181-183)tccfs	p.S61fs		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	61					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GACTTTGAATTCCCCCAGGAGG	0.500													44	91	---	---	---	---					
OR13C5	138799	broad.mit.edu	37	9	107361685	107361685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:107361685delC	ENST00000374779.2	-	1	103	c.10delG	c.(10-12)aafs	p.E4fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTGGTTTTCCCATTCCATT	0.363													12	49	---	---	---	---					
KIAA1958	158405	broad.mit.edu	37	9	115337090	115337090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr9:115337090delC	ENST00000337530.6	+	2	1026	c.730delC	c.(730-732)ccfs	p.P244fs	KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.P244fs|KIAA1958_ENST00000374244.3_Frame_Shift_Del_p.P244fs	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	244										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCACGCTGGTCCCTCCTGTGT	0.527													35	80	---	---	---	---					
ZNF33A	7581	broad.mit.edu	37	10	38344949	38344949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr10:38344949delG	ENST00000374618.3	+	5	2075	c.1897delG	c.(1897-1899)ggfs	p.G633fs	ZNF33A_ENST00000458705.2_Frame_Shift_Del_p.G632fs|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Frame_Shift_Del_p.G632fs|ZNF33A_ENST00000432900.2_Frame_Shift_Del_p.G639fs	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATTCACATAGGGGAGAAACC	0.393													17	46	---	---	---	---					
KIAA1549L	25758	broad.mit.edu	37	11	33689573	33689573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr11:33689573delT	ENST00000321505.4	+	20	5603	c.5423delT	c.(5422-5424)cgfs	p.L1808fs	KIAA1549L_ENST00000389726.3_Frame_Shift_Del_p.L1814fs|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like																		CAGCAGAGCCTGGCAGAAAAC	0.657													9	55	---	---	---	---					
DENND5B	160518	broad.mit.edu	37	12	31605091	31605092	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr12:31605091_31605092insT	ENST00000389082.5	-	5	1675_1676	c.1411_1412insA	c.(1411-1413)ggafs	p.G471fs	DENND5B_ENST00000536562.1_Frame_Shift_Ins_p.G506fs|DENND5B_ENST00000306833.6_Frame_Shift_Ins_p.G506fs|DENND5B_ENST00000354285.4_Frame_Shift_Ins_p.G493fs	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	471						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGAGGTCCATTTTTTCCACA	0.470													16	119	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383													2	4	---	---	---	---					
SOS2	6655	broad.mit.edu	37	14	50626741	50626742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:50626741_50626742insA	ENST00000216373.5	-	10	1533_1534	c.1259_1260insT	c.(1258-1260)aaafs	p.K420fs	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Frame_Shift_Ins_p.K387fs	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	420					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAATTTCATTCATTTTTTTGAT	0.356													16	37	---	---	---	---					
HHIPL1	84439	broad.mit.edu	37	14	100126035	100126036	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:100126035_100126036delGC	ENST00000330710.5	+	4	1415_1416	c.1317_1318delGC	c.(1315-1320)tggcfs	p.WR439fs	HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.WR439fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	439					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACTATGGCTGGCGCGCGCGCGA	0.723													2	4	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105419037	105419037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr14:105419037delG	ENST00000333244.5	-	7	2870	c.2751delC	c.(2749-2751)ccfs	p.P917fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	917						nucleus		p.P917P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTCCACTTTGGGCAGGTGCA	0.627													109	249	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910714	4910714	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr16:4910714delG	ENST00000396658.4	+	6	1424	c.721delG	c.(721-723)ggfs	p.G241fs	UBN1_ENST00000262376.6_Frame_Shift_Del_p.G241fs|UBN1_ENST00000545171.1_Frame_Shift_Del_p.G241fs|UBN1_ENST00000590769.1_Frame_Shift_Del_p.G241fs	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	241	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAATATTCTGGGGCTTTAAG	0.458													18	123	---	---	---	---					
TPGS2	25941	broad.mit.edu	37	18	34378496	34378496	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr18:34378496delG	ENST00000334295.4	-	6	1000	c.573delC	c.(571-573)gcfs	p.A191fs	TPGS2_ENST00000589049.1_Frame_Shift_Del_p.A191fs|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000587129.1_Frame_Shift_Del_p.A191fs|TPGS2_ENST00000590842.1_Frame_Shift_Del_p.A191fs|TPGS2_ENST00000593035.1_Frame_Shift_Del_p.A156fs|TPGS2_ENST00000383056.3_Frame_Shift_Del_p.A148fs	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	191						cytoplasm|microtubule											GGCGGTAATAGGCAGTAAAGG	0.512													15	71	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6495850	6495850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:6495850delG	ENST00000264071.2	-	4	1031	c.660delC	c.(658-660)ccfs	p.P220fs	TUBB4A_ENST00000540257.1_Frame_Shift_Del_p.P220fs			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	220					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCCCGTAGGTGGGGGTGGTCA	0.627													23	172	---	---	---	---					
BCKDHA	593	broad.mit.edu	37	19	41919953	41919953	+	Splice_Site	DEL	G	G	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:41919953delG	ENST00000269980.2	+	4	743		c.e4-1		BCKDHA_ENST00000457836.2_Splice_Site|BCKDHA_ENST00000595085.1_Splice_Site|CTC-435M10.3_ENST00000540732.1_Splice_Site	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TACACCCCCAGGGCCGGATCT	0.592													23	56	---	---	---	---					
LILRP2	79166	broad.mit.edu	37	19	55224542	55224542	+	RNA	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chr19:55224542delC	ENST00000413439.1	+	0	1769																											ATCCAGGGGTCCCGGGTGATG	0.602													9	25	---	---	---	---					
MSL3	10943	broad.mit.edu	37	X	11793188	11793188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:11793188delC	ENST00000380693.3	+	12	1695	c.1058delC	c.(1057-1059)gafs	p.A353fs	MSL3_ENST00000312196.4_Frame_Shift_Del_p.A519fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.A507fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.A370fs	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	519					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AACCCCCGGGCAATTTATTAA	0.463													8	66	---	---	---	---					
DCX	1641	broad.mit.edu	37	X	110654026	110654026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L9-A444-01A-21D-A24D-08	TCGA-L9-A444-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de0f0992-1f94-419e-9361-aae7fc6d3c0c	a3bb7a09-4e05-4d53-8a74-d6a2a0906918	g.chrX:110654026delA	ENST00000338081.3	-	1	348	c.177delT	c.(175-177)ttfs	p.F59fs	DCX_ENST00000356220.3_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	59					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TAAATACATTAAAACTGGCAT	0.423													12	154	---	---	---	---