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
IL10RA	3587	broad.mit.edu	37	11	117859186	117859186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:117859186G>T	ENST00000227752.3	+	2	277	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Nonsense_Mutation_p.E33*|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	53						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)		AAATCAGTCTGAAAGTACCTG	0.557000													9	33					2.17888e-05	2.24243e-05	1	1	0
TSC2	7249	broad.mit.edu	37	16	2098703	2098703	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:2098703G>A	ENST00000219476.3	+	2	717	c.87G>A	c.(85-87)agG>agA	p.R29R	TSC2_ENST00000439673.2_Silent_p.R29R|TSC2_ENST00000401874.2_Silent_p.R29R|TSC2_ENST00000353929.4_Silent_p.R29R|TSC2_ENST00000568454.1_Silent_p.R40R|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000350773.4_Silent_p.R29R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	29	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAATCCCAGGTCTGCAGAGG	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				28	51					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808070	20808070	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:20808070C>G	ENST00000601440.1	-	4	759	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.368000													16	45					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15098116	15098116	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:15098116G>A	ENST00000396410.4	+	5	412	c.315G>A	c.(313-315)ctG>ctA	p.L105L	PDXDC1_ENST00000535621.2_Silent_p.L105L|PDXDC1_ENST00000450288.2_Silent_p.L77L|PDXDC1_ENST00000563679.1_Silent_p.L123L|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000569715.1_Silent_p.L78L|PDXDC1_ENST00000325823.7_Silent_p.L90L|PDXDC1_ENST00000455313.2_Silent_p.L105L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	105					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTCAACTCTGGACAAAGAGA	0.363000													12	205					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741000	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			15	1					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109565995	109565995	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:109565995T>C	ENST00000357672.3	-	2	515	c.140A>G	c.(139-141)gAt>gGt	p.D47G	WDR47_ENST00000369962.3_Missense_Mutation_p.D47G|WDR47_ENST00000369965.4_Missense_Mutation_p.D47G|WDR47_ENST00000361054.3_Missense_Mutation_p.D47G|WDR47_ENST00000400794.3_Missense_Mutation_p.D47G			O94967	WDR47_HUMAN	WD repeat domain 47	47	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AAGCATATCATCTGAAAACAG	0.338000													121	81					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107439793	107439793	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:107439793C>A	ENST00000394872.2	-	15	1076	c.845G>T	c.(844-846)gGa>gTa	p.G282V	COL4A6_ENST00000372216.4_Missense_Mutation_p.G285V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G284V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G284V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G284V			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	285	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						tcccttttctccAGTAGTTCC	0.443000									Alport syndrome with Diffuse Leiomyomatosis				13	0					0.00010058	0.000103084	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77435289	77435289	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:77435289G>C	ENST00000451710.3	-	9	1302	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	TRPM6_ENST00000361255.3_Missense_Mutation_p.F350L|TRPM6_ENST00000449912.2_Missense_Mutation_p.F350L|TRPM6_ENST00000376871.3_Missense_Mutation_p.F355L|TRPM6_ENST00000376864.4_Missense_Mutation_p.F355L|TRPM6_ENST00000360774.1_Missense_Mutation_p.F355L|TRPM6_ENST00000376872.3_Missense_Mutation_p.F355L|TRPM6_ENST00000483186.1_5'UTR			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	355					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GACTAAAGTTGAAAGTGTTCT	0.428000													27	6					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66429697	66429697	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:66429697G>A	ENST00000262139.5	-	8	711	c.712C>T	c.(712-714)Cta>Tta	p.L238L	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.L156L	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	238					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTGAACACTAGAGAGCTGATT	0.468000													12	28					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056942	140056942	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:140056942C>A	ENST00000504366.1	-	7	2405	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	HARS_ENST00000457527.2_Missense_Mutation_p.D245Y|HARS_ENST00000307633.3_Missense_Mutation_p.D205Y|HARS_ENST00000504156.1_Missense_Mutation_p.D265Y|HARS_ENST00000438307.2_Missense_Mutation_p.D225Y|HARS_ENST00000448240.1_Missense_Mutation_p.D70Y|HARS_ENST00000431330.2_Missense_Mutation_p.D151Y|HARS_ENST00000415192.2_Missense_Mutation_p.D191Y			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	265					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CCAATGCGGTCAGCCACCTCA	0.577000													16	36					1.99824e-07	2.09137e-07	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146157801	146157801	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:146157801C>T	ENST00000276816.4	-	4	558	c.372G>A	c.(370-372)agG>agA	p.R124R	ZNF16_ENST00000394909.2_Silent_p.R124R	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GTGGCAGCCTCCTGCCTTCGG	0.542000													18	27					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183097819	183097819	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:183097819G>A	ENST00000258341.4	+	18	3471	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1072	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAAGCCTTCGAGGATAGACT	0.463000													5	91					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219399360	219399360	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:219399360C>G	ENST00000258399.3	-	9	1162	c.750G>C	c.(748-750)ttG>ttC	p.L250F	USP37_ENST00000418019.1_Missense_Mutation_p.L250F|USP37_ENST00000415516.1_Missense_Mutation_p.L178F|USP37_ENST00000454775.1_Missense_Mutation_p.L250F|USP37_ENST00000338465.5_Missense_Mutation_p.L250F	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	250					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGACTGTTTCAAACTCAGCT	0.308000													29	23					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	46					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90455360	90455360	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:90455360G>A	ENST00000335725.4	+	11	1493	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	TDP1_ENST00000393454.2_Missense_Mutation_p.E415K|TDP1_ENST00000357382.3_Missense_Mutation_p.E176K|TDP1_ENST00000555880.1_Missense_Mutation_p.E415K|TDP1_ENST00000393452.3_Missense_Mutation_p.E415K	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	415					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTTATGTTCTGAGTTTAAAGA	0.493000								Repair of DNA-protein crosslinks					29	51					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74778342	74778342	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:74778342C>A	ENST00000397860.3	-	3	266		c.e3-1		MBP_ENST00000487778.1_Splice_Site|MBP_ENST00000397863.1_Splice_Site|MBP_ENST00000579129.1_Splice_Site|MBP_ENST00000355994.2_Splice_Site|MBP_ENST00000580402.1_Splice_Site	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein						central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTTCACTATTCTGGAAAAAGA	0.333000													36	3					3.62531e-18	3.96217e-18	1	1	0
ZNF501	115560	broad.mit.edu	37	3	44776318	44776318	+	Silent	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:44776318A>G	ENST00000396048.2	+	3	842	c.405A>G	c.(403-405)aaA>aaG	p.K135K		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AACCATATAAATGTACAGAAT	0.398000													5	67					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660640	227660640	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:227660640C>G	ENST00000305123.5	-	1	3835	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATGTACTCCTCAGTGCCAGTC	0.652000													23	33					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041363	234041363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:234041363G>T	ENST00000366618.3	+	2	287	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGTGGTGGACGAGGCGATTAA	0.647000													15	39					2.32078e-09	2.47084e-09	1	1	0
PRR5	55615	broad.mit.edu	37	22	45132922	45132922	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:45132922G>C	ENST00000403581.1	+	10	1640	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	PRR5_ENST00000336985.6_Missense_Mutation_p.R321T|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.R312T|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGCCCCAGCAGACTGTACCCC	0.731000													14	10					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110560308	110560308	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:110560308A>C	ENST00000282356.4	+	1	525	c.127A>C	c.(127-129)Agc>Cgc	p.S43R	CAMK4_ENST00000512453.1_Missense_Mutation_p.S43R	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	43					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGATGCGCTGAGCGATTTCTT	0.697000													7	10					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118906814	118906814	+	Missense_Mutation	SNP	C	C	T	rs147505927		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:118906814C>T	ENST00000264234.3	+	3	411	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UPK1B_ENST00000497685.1_Missense_Mutation_p.L8F|UPK1B_ENST00000460625.1_Missense_Mutation_p.L88F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	88					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAGGAAAATTCTTCTGGCGGT	0.478000													27	25					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:133109176G>C	ENST00000321871.6	+	5	1813	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	TMEM108_ENST00000393130.3_Missense_Mutation_p.E535Q|TMEM108_ENST00000508711.1_Missense_Mutation_p.E65Q	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532000													50	143					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90028237	90028237	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:90028237C>T	ENST00000563594.1	+	8	1769	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	DEF8_ENST00000268676.7_Missense_Mutation_p.R319C|DEF8_ENST00000569453.1_Missense_Mutation_p.R258C|DEF8_ENST00000563795.1_Missense_Mutation_p.R258C|DEF8_ENST00000570182.1_Missense_Mutation_p.R248C|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000567874.1_Missense_Mutation_p.R198C	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	319					intracellular signal transduction		zinc ion binding	p.R319S(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GATCCCTGCACGCGTTGTACA	0.642000													15	12					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166948	64166948	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:64166948C>G	ENST00000395391.1	+	4	1641	c.266C>G	c.(265-267)tCa>tGa	p.S89*	ZNF107_ENST00000423627.1_Nonsense_Mutation_p.S89*|ZNF107_ENST00000344930.3_Nonsense_Mutation_p.S89*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GATAAATTTTCAAATTCAAAT	0.328000													9	23					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17618932	17618932	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:17618932C>G	ENST00000336737.4	-	8	1276	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	CECR5_ENST00000399852.3_Missense_Mutation_p.K217N|CECR5_ENST00000155674.5_Missense_Mutation_p.K387N	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	417							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCCAGCCCTCCTTGCGGAAGA	0.627000													10	22					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4345772	4345772	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:4345772G>C	ENST00000599840.1	+	3	360	c.325G>C	c.(325-327)Gac>Cac	p.D109H	MPND_ENST00000262966.8_Missense_Mutation_p.D109H|MPND_ENST00000359935.4_Missense_Mutation_p.D109H			Q8N594	MPND_HUMAN	MPN domain containing	109							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGCCAGACGGAAGGAT	0.647000													7	28					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142224099	142224099	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:142224099C>A	ENST00000350721.4	-	29	5199	c.5078G>T	c.(5077-5079)aGt>aTt	p.S1693I	ATR_ENST00000383101.3_Missense_Mutation_p.S1629I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1693	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTAATTGCACTGACTCCGGC	0.398000								Other conserved DNA damage response genes					8	207					0.000157383	0.000160968	1	1	0
TDP1	55775	broad.mit.edu	37	14	90455254	90455254	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:90455254G>A	ENST00000335725.4	+	11	1387	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	TDP1_ENST00000393454.2_Silent_p.L379L|TDP1_ENST00000357382.3_Silent_p.L140L|TDP1_ENST00000555880.1_Silent_p.L379L|TDP1_ENST00000393452.3_Silent_p.L379L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	379					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCCAGCTTCTGAAAGACCATG	0.423000								Repair of DNA-protein crosslinks					25	36					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741242	51741242	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:51741242A>G	ENST00000251076.5	-	43	9337	c.9050T>C	c.(9049-9051)cTg>cCg	p.L3017P	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2381P|DMXL2_ENST00000543779.2_Missense_Mutation_p.L3018P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3017						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCTGGTTTTCAGCGTGCCATC	0.413000													14	66					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82876858	82876858	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:82876858C>G	ENST00000298281.4	+	5	1371	c.919C>G	c.(919-921)Cat>Gat	p.H307D		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	307					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAACATTCTCATGGAAAAGA	0.383000													10	7					0	0	1	0	0
SLC46A1	113235	broad.mit.edu	37	17	26731971	26731971	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:26731971G>C	ENST00000440501.1	-	2	839	c.744C>G	c.(742-744)caC>caG	p.H248Q	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.H248Q	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	248					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	CAATGGATCGGTGGTGACGGA	0.537000													34	165					0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57206175	57206175	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:57206175C>T	ENST00000309137.8	-	4	594	c.336G>A	c.(334-336)ctG>ctA	p.L112L	FAM192A_ENST00000564108.1_Silent_p.L112L|FAM192A_ENST00000389447.5_Silent_p.L112L|FAM192A_ENST00000569266.1_Silent_p.L112L|FAM192A_ENST00000567439.1_Silent_p.L112L|FAM192A_ENST00000566077.1_Silent_p.L35L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	112						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TGTATTCCTTCAGTTCTTTCA	0.403000													22	61					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201741	21201741	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:21201741G>A	ENST00000342679.4	+	2	315	c.66G>A	c.(64-66)aaG>aaA	p.K22K	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	22					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGAGGAAGAAGGATCTAC	0.572000													5	170					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990662	39990662	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:39990662G>A	ENST00000332312.3	-	4	1739	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	516						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGTCTCCAGTGAGACCAACCG	0.642000													29	86					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53516997	53516997	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:53516997G>A	ENST00000370905.3	-	3	1444	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	KLHL31_ENST00000407079.1_Missense_Mutation_p.S435L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCACTCCAGCGAGGCCAGGCT	0.692000													16	19					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206584	142206584	+	RNA	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:142206584C>T	ENST00000426318.2	-	0	321																											GGGAAATTCTCTGTCTTGGAT	0.532000													31	71					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77925353	77925353	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:77925353C>G	ENST00000310924.2	-	5	1100	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	329						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TACTGGCTCTCTCGGCTGGCA	0.587000													16	40					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77987619	77987619	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:77987619C>T	ENST00000344720.5	+	12	2367	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	AK5_ENST00000354567.2_Silent_p.F473F	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	473					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGGAAGAGTTCGGACGCAGGG	0.527000													3	41					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74277168	74277168	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:74277168G>C	ENST00000316900.5	-	6	959	c.835C>G	c.(835-837)Caa>Gaa	p.Q279E	STOML1_ENST00000541638.1_Missense_Mutation_p.Q236E|STOML1_ENST00000561656.1_Missense_Mutation_p.Q191E|STOML1_ENST00000359750.4_Intron|STOML1_ENST00000564777.1_Missense_Mutation_p.Q228E|STOML1_ENST00000316911.6_Missense_Mutation_p.Q229E	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	279						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCACCAACTTGAGGGGCAGGT	0.632000													31	24					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249144981	249144981	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:249144981C>G	ENST00000451251.1	-	11	1514		c.e11-1		ZNF692_ENST00000306601.4_Splice_Site|ZNF692_ENST00000366471.3_Splice_Site|ZNF692_ENST00000366469.5_Splice_Site|ZNF692_ENST00000427146.1_Splice_Site	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCCGGGTGTCTGCAGGCATA	0.597000													13	20					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368730	40368730	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:40368730G>A	ENST00000221347.6	-	28	12625	c.12618C>T	c.(12616-12618)ccC>ccT	p.P4206P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4206	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATAGCTGCTGGGGAGCGTCA	0.587000													76	99					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96124823	96124823	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:96124823A>C	ENST00000458427.1	+	1	1666	c.1010A>C	c.(1009-1011)aAt>aCt	p.N337T	JRKL_ENST00000332349.4_Missense_Mutation_p.N337T|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	337	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		ATGAAGAGAAATTATCGTGCA	0.403000													5	47					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239981	135239981	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:135239981G>C	ENST00000265605.2	-	7	1104	c.1036C>G	c.(1036-1038)Ctt>Gtt	p.L346V	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L292V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L296V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	346					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCTTCAGCAAGAGCTCTCTTG	0.463000													48	23					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988906	41988906	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:41988906C>T	ENST00000219905.7	+	3	1879	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	MGA_ENST00000389936.4_Silent_p.L566L|MGA_ENST00000545763.1_Silent_p.L566L|MGA_ENST00000570161.1_Silent_p.L566L|MGA_ENST00000566586.1_Silent_p.L566L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	566						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)		AAAGAATACTCGACGATTCAA	0.413000													7	7					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053562	17053562	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:17053562G>C	ENST00000418129.2	+	2	2811	c.2346G>C	c.(2344-2346)ttG>ttC	p.L782F	PLCL2_ENST00000396755.2_Missense_Mutation_p.L782F|PLCL2_ENST00000432376.1_Missense_Mutation_p.L782F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	908	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGCATCTTTGAGAACACTGT	0.473000													21	83					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112224	44112224	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:44112224A>C	ENST00000361807.3	+	5	927	c.733A>C	c.(733-735)Aat>Cat	p.N245H	ZNF485_ENST00000374437.2_Missense_Mutation_p.N154H|ZNF485_ENST00000374435.3_Missense_Mutation_p.N245H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CTACAAATGTAATGACTGTGG	0.403000													20	22					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123196802	123196802	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:123196802C>G	ENST00000371160.1	+	18	1979	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.I563M|STAG2_ENST00000354548.5_Missense_Mutation_p.I494M|STAG2_ENST00000371145.3_Missense_Mutation_p.I563M|STAG2_ENST00000218089.9_Missense_Mutation_p.I563M|STAG2_ENST00000371144.3_Missense_Mutation_p.I563M	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	563					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						GGACAAAAATCACTGAGCTTT	0.368000													42	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481631	179481631	+	Silent	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:179481631G>T	ENST00000589042.1	-	256	48209	c.47985C>A	c.(47983-47985)acC>acA	p.T15995T	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T7122T|TTN_ENST00000591111.1_Silent_p.T14354T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T7055T|TTN_ENST00000460472.2_Silent_p.T6930T|TTN_ENST00000342992.6_Silent_p.T13427T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14354	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAACACCAGGTTGCAGTTG	0.443000													142	76					2.2064e-62	2.47157e-62	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19175538	19175538	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:19175538C>G	ENST00000263200.10	-	28	4461	c.4389G>C	c.(4387-4389)gtG>gtC	p.V1463V	CLTCL1_ENST00000353891.5_Silent_p.V1463V|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Silent_p.V1463V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1463	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTGCCTCATTCACACTCTTGT	0.602000			T	?	ALCL								54	103					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60448558	60448558	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:60448558G>A	ENST00000296597.5	+	4	413	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	96						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AAAACACAGAGAAGAAATCAA	0.274000													5	10					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845038	105845038	+	Splice_Site	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:105845038A>G	ENST00000393127.2	+	16	2857	c.2411A>G	c.(2410-2412)gAc>gGc	p.D804G	GRIA4_ENST00000530497.1_Splice_Site_p.D804G|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Splice_Site_p.D804G|GRIA4_ENST00000282499.5_Splice_Site_p.D804G	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	804					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCCCCCTAGGACAAGACGAGT	0.448000													26	84					0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524539	27524539	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:27524539C>G	ENST00000276943.2	+	1	228	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	69					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TTTTGAGTTGCCCCAAGAGTT	0.438000													18	108					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931877	115931877	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:115931877G>C	ENST00000238256.3	-	26	3229	c.3112C>G	c.(3112-3114)Cta>Gta	p.L1038V		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1038					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGGGGCCCTAGAACTCTGTGG	0.552000													17	23					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26518050	26518050	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:26518050A>G	ENST00000407008.3	+	9	1958	c.1240A>G	c.(1240-1242)Aaa>Gaa	p.K414E		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	414	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATTTCAGTCCAAAAGAATATC	0.413000													24	29					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190814	48190814	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:48190814C>G	ENST00000400384.2	+	2	1522	c.486C>G	c.(484-486)ctC>ctG	p.L162L	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.L162L|MAPK4_ENST00000592595.1_Silent_p.L162L	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	162	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAGAGGACCTCGTGCTCAAGA	0.557000													24	28					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379953	107379953	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:107379953G>A	ENST00000259362.1	-	1	532	c.533C>T	c.(532-534)tCa>tTa	p.S178L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S178L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AATTTCACATGAGAAATGATT	0.438000													28	38					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172305263	172305263	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:172305263C>T	ENST00000375255.3	+	4	721	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	DCAF17_ENST00000539783.1_Missense_Mutation_p.R132C|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	132						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTGGCTACTTCGTATATCAGC	0.303000													55	151					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110463631	110463631	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:110463631C>G	ENST00000372007.5	+	18	1982	c.1591C>G	c.(1591-1593)Ctg>Gtg	p.L531V	PAK3_ENST00000518291.1_Missense_Mutation_p.L567V|PAK3_ENST00000425146.1_Missense_Mutation_p.L531V|PAK3_ENST00000519681.1_Missense_Mutation_p.L552V|PAK3_ENST00000372010.1_Missense_Mutation_p.L546V|PAK3_ENST00000262836.4_Missense_Mutation_p.L546V|PAK3_ENST00000417227.1_Missense_Mutation_p.L552V|PAK3_ENST00000360648.4_Missense_Mutation_p.L567V|PAK3_ENST00000446737.1_Missense_Mutation_p.L531V	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCTGACTCCTCTGATTATCGC	0.418000										TSP Lung(19;0.15)			35	5					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153387	185153387	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:185153387C>T	ENST00000367500.4	+	8	1316	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	SWT1_ENST00000367501.3_Missense_Mutation_p.S384L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	384										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AATAATACTTCAGACAGAAAG	0.269000													33	163					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73663442	73663442	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:73663442G>A	ENST00000055077.3	-	4	292	c.232C>T	c.(232-234)Cca>Tca	p.P78S	RFC2_ENST00000352131.3_Missense_Mutation_p.P78S	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	78					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CCGGTTCCTGGAGGGCCCTGG	0.532000													30	7					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42565569	42565569	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:42565569C>T	ENST00000289957.2	+	3	369	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	81					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAATGTGTGGCTCAAACAGGT	0.313000													5	31					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187195	12187195	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:12187195G>A	ENST00000439326.3	+	4	1435	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCCTATGAATGTAAGCA	0.423000													12	33					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763852	67763852	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:67763852G>C	ENST00000317506.3	-	8	1102	c.987C>G	c.(985-987)ctC>ctG	p.L329L	RANBP10_ENST00000411657.2_Silent_p.L212L|RANBP10_ENST00000536251.1_Silent_p.L100L|RANBP10_ENST00000602677.1_Silent_p.L329L|RANBP10_ENST00000448631.2_Silent_p.L273L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	329	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGAGCATGAAGAGGAGGTTGG	0.617000													27	16					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561453	11561453	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:11561453G>A	ENST00000294484.6	+	2	542	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R135Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	135					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCTGGGGGCGGAACCGGCGC	0.612000													7	29					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74911611	74911611	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:74911611C>T	ENST00000395066.3	+	2	979	c.518C>T	c.(517-519)tCc>tTc	p.S173F	CLK3_ENST00000348245.3_Missense_Mutation_p.S25F|CLK3_ENST00000345005.4_Missense_Mutation_p.S25F|CLK3_ENST00000352989.5_Missense_Mutation_p.S25F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	173	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGGAGGTCCTACAGTCGG	0.582000													27	98					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	180					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537000													60	130					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096941	168096941	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:168096941C>T	ENST00000519560.1	-	35	4602	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1395K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1402K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1395	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATAGCCCTCGGCACACTTG	0.537000													14	3					0	0	1	0	0
GMNN	51053	broad.mit.edu	37	6	24784350	24784350	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:24784350G>C	ENST00000230056.3	+	5	642	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	GMNN_ENST00000356509.3_Missense_Mutation_p.E104Q	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	104	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	p.E104Q(2)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GGAAGTGGCAGAAAAACGGAG	0.299000													18	31					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95030565	95030565	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:95030565C>T	ENST00000375643.3	-	14	1588	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	IARS_ENST00000443024.2_Missense_Mutation_p.R441Q|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.R331Q	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	441					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCGTTTTTCTCGTACCAACTC	0.428000													32	65					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456142	91456142	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:91456142C>T	ENST00000360468.3	+	16	2523	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	MAN2A2_ENST00000431652.2_Silent_p.V343V|MAN2A2_ENST00000559717.1_Silent_p.V835V|MAN2A2_ENST00000430376.2_Silent_p.V25V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	835					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCTGCGTGTCACTGAAGGCC	0.562000													16	60					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36594265	36594265	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:36594265G>A	ENST00000401500.2	+	30	3570	c.3535G>A	c.(3535-3537)Gcg>Acg	p.A1179T	WDR62_ENST00000270301.7_Missense_Mutation_p.A1174T	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1174					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TACGAGCCTGGCGTCCTGTGT	0.642000													8	31					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73682348	73682348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:73682348G>T	ENST00000264448.6	+	9	7708	c.7597G>T	c.(7597-7599)Gaa>Taa	p.E2533*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.E2533*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2491*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2533					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAATTAAATGAAGATGACAG	0.363000													7	61					2.0095e-06	2.08988e-06	1	1	0
SNW1	22938	broad.mit.edu	37	14	78198904	78198904	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:78198904C>A	ENST00000261531.7	-	9	877	c.815G>T	c.(814-816)gGa>gTa	p.G272V	SNW1_ENST00000554775.1_Missense_Mutation_p.G110V|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.G272V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	272	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TAGTCCTCTTCCATCAGCAGC	0.398000													20	79					5.35267e-07	5.57852e-07	1	1	0
STAM	8027	broad.mit.edu	37	10	17730072	17730072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:17730072G>A	ENST00000377524.3	+	5	559	c.344G>A	c.(343-345)tGg>tAg	p.W115*	STAM_ENST00000540523.1_Nonsense_Mutation_p.W4*	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	115	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGGTTGAATGGACAGATGAA	0.348000													32	153					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632495	102632495	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:102632495G>A	ENST00000332549.3	+	4	724	c.495G>A	c.(493-495)gtG>gtA	p.V165V	IL1R2_ENST00000393414.2_Silent_p.V165V|IL1R2_ENST00000441002.1_Silent_p.V165V	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AAACTGACGTGAAGATTCAAT	0.373000													53	56					0	0	1	0	0
RNF5	6048	broad.mit.edu	37	6	32148102	32148102	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:32148102G>A	ENST00000375094.3	+	6	700	c.542G>A	c.(541-543)tGa>tAa	p.*181*	RNF5_ENST00000427134.2_Intron	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	0					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CTCAGTATTTGAGCTATGTCT	0.542000													18	39					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576528	158576528	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:158576528G>T	ENST00000361284.1	+	1	300	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTGCCCAGATGTTCTTTT	0.552000													84	44					6.88379e-33	7.67628e-33	1	1	0
STAB2	55576	broad.mit.edu	37	12	104067770	104067770	+	Silent	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:104067770C>A	ENST00000388887.2	+	23	2661	c.2457C>A	c.(2455-2457)gcC>gcA	p.A819A		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	819					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACGGCTCTGCCGGGAGACTCT	0.567000													32	17					3.76114e-14	4.06565e-14	1	1	0
INTS3	65123	broad.mit.edu	37	1	153737531	153737531	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:153737531G>A	ENST00000456435.1	+	20	2650	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L694L|INTS3_ENST00000512605.1_Silent_p.L488L|INTS3_ENST00000318967.2_Silent_p.L694L			Q68E01	INT3_HUMAN	integrator complex subunit 3	695					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTACTACCTGAGGGCCAGGT	0.532000													65	130					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740158	139740158	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:139740158C>G	ENST00000436881.1	+	1	1292	c.1292C>G	c.(1291-1293)aCc>aGc	p.T431S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	431										endometrium(2)|large_intestine(1)|lung(6)	9						CACGGCGGCACCGGCACCAGT	0.751000													11	1					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629730	129629730	+	RNA	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:129629730C>G	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CACCAGGACTCTGCCTGCCCT	0.517000													64	3					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937616	152937616	+	Silent	SNP	G	G	A	rs142357600		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:152937616G>A	ENST00000393831.2	-	4	674	c.240C>T	c.(238-240)caC>caT	p.H80H	PNCK_ENST00000370150.1_Silent_p.H80H|PNCK_ENST00000370145.4_Silent_p.H97H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.H80H|PNCK_ENST00000340888.3_Silent_p.H80H|PNCK_ENST00000447676.2_Silent_p.H163H	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	80	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGCTCTCGTGGACATCCT	0.637000													12	13					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79429801	79429801	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:79429801C>G	ENST00000307745.7	+	31	7419	c.7419C>G	c.(7417-7419)ttC>ttG	p.F2473L																								GGAAGCTGTTCTACAAGGCCA	0.697000													32	60					0	0	1	0	0
RAET1G	353091	broad.mit.edu	37	6	150239489	150239489	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:150239489T>G	ENST00000367360.2	-	4	730	c.663A>C	c.(661-663)caA>caC	p.Q221H	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	221					antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGGCCCTGGGTTGGGCTGTGC	0.587000													30	2					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	54001447	54001447	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:54001447G>C	ENST00000295304.4	+	3	435	c.340G>C	c.(340-342)Gat>Cat	p.D114H	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	114										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAACATGTGATAATCCTGA	0.368000													15	48					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97563230	97563230	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:97563230C>T	ENST00000375315.2	+	4	1310	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	C9orf3_ENST00000297979.5_Missense_Mutation_p.S437F|C9orf3_ENST00000395357.2_Missense_Mutation_p.S57F|C9orf3_ENST00000277198.2_Missense_Mutation_p.S437F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	437					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CACCCGTTCTCTCGGCTGGAT	0.557000													32	55					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135303235	135303235	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:135303235C>T	ENST00000285968.6	+	28	3873	c.3847C>T	c.(3847-3849)Ctg>Ttg	p.L1283L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1283					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACGTCATGCTCTGGAGTCGTG	0.423000													25	69					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48888622	48888622	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:48888622G>C	ENST00000314014.2	+	8	415	c.284G>C	c.(283-285)aGa>aCa	p.R95T	C12orf54_ENST00000548364.1_Missense_Mutation_p.R95T|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	95										endometrium(1)|large_intestine(4)	5						CCAAAGTTGAGAAGATTGCAG	0.473000													24	69					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8602924	8602924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:8602924C>T	ENST00000360986.4	+	3	370	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Nonsense_Mutation_p.Q55*	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	66	FZ.				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						CAACCTGCTTCAGCACCGGTC	0.647000													28	18					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130382	147130382	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:147130382C>T	ENST00000282928.4	+	2	1789	c.1060C>T	c.(1060-1062)Cac>Tac	p.H354Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	354					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						GAAGCACATGCACGTGCACAC	0.557000													19	53					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27237853	27237853	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:27237853C>T	ENST00000222753.4	-	2	1159	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	377					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGACTTTTTTCTCTTTAACCC	0.423000			T	NUP98	AML								57	240					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395382	115395382	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:115395382G>C	ENST00000393780.3	+	3	1129	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	GAP43_ENST00000305124.6_Missense_Mutation_p.E185Q	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	185					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)		ccctgccgcagaggatgctgc	0.622000													18	12					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108941	65108941	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:65108941A>C	ENST00000528416.1	+	4	506	c.373A>C	c.(373-375)Act>Cct	p.T125P	DPF2_ENST00000415073.2_Missense_Mutation_p.T125P|DPF2_ENST00000252268.4_Missense_Mutation_p.T125P|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	125					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCTGTTGCGCACTGACCCCCT	0.572000													32	11					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508374	37508374	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:37508374A>T	ENST00000374660.1	+	40	4022	c.3923A>T	c.(3922-3924)aAc>aTc	p.N1308I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N1189I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.N1189I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1245						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACGATATATAACAATGAGGTG	0.358000													11	87					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280750	17280750	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:17280750G>A	ENST00000331428.5	-	3	602	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	167						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGAATCACTGACATGTACTT	0.403000													14	105					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434264	35434264	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:35434264G>C	ENST00000439785.1	+	5	841	c.397G>C	c.(397-399)Gac>Cac	p.D133H	ZNF30_ENST00000303586.7_Missense_Mutation_p.D133H|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.D132H|ZNF30_ENST00000426813.2_Missense_Mutation_p.D51H|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CCTTTGTCAAGACTCAAAGCC	0.383000													18	23					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141331	21141331	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:21141331A>T	ENST00000380229.2	-	1	813	c.239T>A	c.(238-240)cTc>cAc	p.L80H		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	80					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATCTCATGGAGGACAGACAT	0.532000													22	155					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521615	24521615	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:24521615G>A	ENST00000355123.4	-	13	1856	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	ITSN2_ENST00000361999.3_Silent_p.L471L|ITSN2_ENST00000406921.3_Silent_p.L471L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	471					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTTGATTGAGAAGCTCCT	0.363000													16	142					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170378	39170378	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:39170378C>T	ENST00000301819.6	+	14	2052	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	TTC21A_ENST00000431162.2_Silent_p.S624S|TTC21A_ENST00000440121.1_Silent_p.S576S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	624							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCGGGCATCCATCTTATTGG	0.557000													13	34					0	0	1	0	0
DMAP1	55929	broad.mit.edu	37	1	44684734	44684734	+	Missense_Mutation	SNP	G	G	A	rs147853070	by1000genomes	TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:44684734G>A	ENST00000372289.2	+	6	990	c.727G>A	c.(727-729)Gag>Aag	p.E243K	DMAP1_ENST00000315913.5_Missense_Mutation_p.E243K|DMAP1_ENST00000361745.6_Missense_Mutation_p.E243K|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	243					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCAGGTGGCAGAGGAGGAGTA	0.592000													24	7					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39116795	39116795	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:39116795G>A	ENST00000261425.3	+	11	2070	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N	KLHL5_ENST00000359687.2_Missense_Mutation_p.D686N|KLHL5_ENST00000381930.3_Missense_Mutation_p.D686N|KLHL5_ENST00000504108.1_Missense_Mutation_p.D686N|KLHL5_ENST00000261426.5_Missense_Mutation_p.D625N|KLHL5_ENST00000508137.2_Missense_Mutation_p.D499N|RP11-360F5.1_ENST00000509449.1_RNA	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	686						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCAAAACAGACATGTGGAC	0.383000													11	38					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281355	45281355	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:45281355G>C	ENST00000270279.3	+	1	230	c.167G>C	c.(166-168)cGa>cCa	p.R56P	CBLC_ENST00000341505.4_Missense_Mutation_p.R56P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	56	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAGCTGCTTCGAGAGGTGGCC	0.701000			M		AML								9	11					0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448617	126448617	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:126448617C>T	ENST00000311922.3	+	3	1605	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TRIB1_ENST00000519576.1_Silent_p.V110V|TRIB1_ENST00000520847.1_Silent_p.V175V	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	341					JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTGAGTCCGTCTTGGAACCCG	0.552000													18	108					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48826367	48826367	+	Nonsense_Mutation	SNP	G	G	A	rs146348130		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:48826367G>A	ENST00000316623.5	-	8	1227	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	258	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCCTCCCTGACAGAGCCCG	0.393000													162	86					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463084	62463084	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:62463084C>G	ENST00000430451.2	+	1	544	c.347C>G	c.(346-348)tCa>tGa	p.S116*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.S116*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	116										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCAAAGGACTCATGTTCCACA	0.458000													63	76					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17730073	17730073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:17730073G>A	ENST00000377524.3	+	5	560	c.345G>A	c.(343-345)tgG>tgA	p.W115*	STAM_ENST00000540523.1_Nonsense_Mutation_p.W4*	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	115	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGTTGAATGGACAGATGAAT	0.353000													32	152					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615060	158615060	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:158615060T>A	ENST00000368147.4	-	29	4292	c.4112A>T	c.(4111-4113)cAa>cTa	p.Q1371L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGACAGCTTGAAGCTTTTT	0.488000													36	89					0	0	1	0	0
PGP	283871	broad.mit.edu	37	16	2263839	2263839	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:2263839G>C	ENST00000333503.7	-	2	885	c.856C>G	c.(856-858)Cta>Gta	p.L286V		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	286					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						ACATCCCCTAGAGTGGAGACT	0.552000													10	75					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34258086	34258086	+	Silent	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:34258086G>T	ENST00000373381.4	-	11	1664	c.1488C>A	c.(1486-1488)ggC>ggA	p.G496G	CSMD2_ENST00000338325.1_Silent_p.G104G	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	456	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGTGTCATAGCCCCTCTCCA	0.557000													17	43					1.33834e-09	1.42794e-09	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81180076	81180076	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:81180076C>T	ENST00000394685.3	+	8	1258	c.839C>T	c.(838-840)tCt>tTt	p.S280F	KIAA1199_ENST00000356249.5_Missense_Mutation_p.S280F|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S280F			Q8WUJ3	K1199_HUMAN	KIAA1199	280										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AATCCATCATCTTCAGTGGAA	0.423000													14	28					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496225	6496225	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:6496225G>A	ENST00000601152.1	-	4	334	c.209C>T	c.(208-210)cCg>cTg	p.P70L	TUBB4A_ENST00000540257.1_Silent_p.S95S|TUBB4A_ENST00000598006.1_Missense_Mutation_p.P81L|TUBB4A_ENST00000264071.2_Silent_p.S95S|TUBB4A_ENST00000596926.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	0					'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										TGCCGGCTCCGGATTGGCCTA	0.622000													7	20					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741241	51741241	+	Silent	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:51741241C>A	ENST00000251076.5	-	43	9338	c.9051G>T	c.(9049-9051)ctG>ctT	p.L3017L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L2381L|DMXL2_ENST00000543779.2_Silent_p.L3018L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3017						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCCTGGTTTTCAGCGTGCCAT	0.413000													14	65					0.000308642	0.000313722	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11505533	11505533	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:11505533T>C	ENST00000609104.1	-	15	1788	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	USP6NL_ENST00000379237.2_Missense_Mutation_p.N488S|USP6NL_ENST00000277575.5_Missense_Mutation_p.N482S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGCGTGATTATATTGCCT	0.463000													87	180					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30077528	30077528	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:30077528G>T	ENST00000338641.4	+	15	2116	c.1675G>T	c.(1675-1677)Gat>Tat	p.D559Y	NF2_ENST00000403435.1_Missense_Mutation_p.D530Y|NF2_ENST00000403999.3_Missense_Mutation_p.D559Y|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361452.4_Missense_Mutation_p.D518Y|NF2_ENST00000361166.4_Missense_Mutation_p.D559Y|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.D559Y|NF2_ENST00000334961.7_Missense_Mutation_p.D476Y|NF2_ENST00000361676.4_Missense_Mutation_p.D517Y|NF2_ENST00000353887.4_Missense_Mutation_p.D476Y	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	559					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GACAGCTCTGGATATTCTGCA	0.463000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				18	84					1.90627e-21	2.09732e-21	1	1	0
DCAF17	80067	broad.mit.edu	37	2	172334511	172334511	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:172334511C>G	ENST00000375255.3	+	12	1524	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	DCAF17_ENST00000539783.1_Silent_p.L332L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	399						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAAATGTACTCACTGTTACAG	0.343000													21	25					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821015	192821015	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:192821015C>T	ENST00000392314.1	-	8	1226	c.835G>A	c.(835-837)Gag>Aag	p.E279K	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.E279K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	279	EGF-like.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATAGAATGCTCACACTTCCCA	0.368000													99	24					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734274	37734274	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:37734274C>T	ENST00000589413.1	+	8	1719	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	ZNF383_ENST00000352998.3_Missense_Mutation_p.S379L|ZNF383_ENST00000590503.1_Missense_Mutation_p.S379L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCAGAGCTCACAGCTTCGT	0.433000													6	45					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25264732	25264732	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:25264732G>A	ENST00000354189.5	-	14	1962	c.1927C>T	c.(1927-1929)Cat>Tat	p.H643Y	CASC1_ENST00000537577.1_Missense_Mutation_p.H467Y|CASC1_ENST00000395987.3_Missense_Mutation_p.H585Y|CASC1_ENST00000320267.9_Missense_Mutation_p.H579Y|CASC1_ENST00000545133.1_Missense_Mutation_p.H520Y|CASC1_ENST00000395990.2_Missense_Mutation_p.H539Y	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	579										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACATAAAAATGAGAGTGTCTA	0.299000													13	39					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137163	32137163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:32137163A>T	ENST00000312561.4	+	4	3688	c.3274A>T	c.(3274-3276)Aaa>Taa	p.K1092*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		AACTGCTGATAAAACCAGTTC	0.398000													20	41					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45008910	45008910	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:45008910G>C	ENST00000372176.1	-	11	993	c.525C>G	c.(523-525)ctC>ctG	p.L175L	ELMO2_ENST00000352077.2_Silent_p.L261L|ELMO2_ENST00000445496.2_Silent_p.L80L|ELMO2_ENST00000439931.2_Silent_p.L275L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Silent_p.L263L|ELMO2_ENST00000290246.6_Silent_p.L263L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	263					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTATAGACCGGAGATGCTTCT	0.358000													35	112					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631699	67631699	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:67631699G>C	ENST00000272342.5	+	5	2015	c.1885G>C	c.(1885-1887)Gac>Cac	p.D629H	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	629						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CATTAGAAAGGACAGTAAGAC	0.358000													44	109					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673531	3673531	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:3673531C>T	ENST00000344754.4	-	14	3755	c.3756G>A	c.(3754-3756)acG>acA	p.T1252T	SIGLEC1_ENST00000202578.4_Silent_p.T1252T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1252					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTCCAGGGACGTGTTGGCCT	0.687000													12	27					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132736624	132736624	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:132736624C>T	ENST00000265342.7	-	4	464	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	72						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGCTCCCTCGGCTGCAGAA	0.627000													25	19					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73002842	73002842	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:73002842C>T	ENST00000377126.2	-	2	1845	c.585G>A	c.(583-585)cgG>cgA	p.R195R		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	195					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGTGTGGGTCCGGTAGTGGC	0.582000													5	23					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902765	4902765	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:4902765C>A	ENST00000381781.2	-	1	114	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	39					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ATCACCTGCCCTTTTATGCTG	0.562000													14	114					0.0285812	0.0286974	1	1	0
EML4	27436	broad.mit.edu	37	2	42396763	42396763	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:42396763C>T	ENST00000318522.5	+	1	274	c.12C>T	c.(10-12)ttC>ttT	p.F4F	AC083949.1_ENST00000422013.2_RNA|AC083949.1_ENST00000458490.1_RNA|EML4_ENST00000401738.3_Silent_p.F4F|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000402711.2_Silent_p.F4F	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	4					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGGACGGTTTCGCCGGCAGTC	0.662000			T	ALK	NSCLC								7	22					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41936745	41936745	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:41936745C>T	ENST00000355209.4	-	2	509	c.166G>A	c.(166-168)Gat>Aat	p.D56N	POLR3H_ENST00000337566.5_Missense_Mutation_p.D56N|POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000396504.2_Missense_Mutation_p.D56N|POLR3H_ENST00000407461.1_Missense_Mutation_p.D56N	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	56					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						ACATAGGCATCCTCCAGTTTG	0.498000													20	48					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537028	30537028	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:30537028C>G	ENST00000380412.5	-	2	608	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.E114Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	145					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTAGAGCTCTCAGATTCATAG	0.517000													57	110					0	0	1	0	0
SARNP	84324	broad.mit.edu	37	12	56188172	56188172	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:56188172C>A	ENST00000546837.1	-	12	1314		c.e12-1		SARNP_ENST00000552080.1_Splice_Site|SARNP_ENST00000336133.3_Splice_Site|SARNP_ENST00000444631.2_Splice_Site																							AATCCCAAACCTGAAGAAGGA	0.353000													46	172					1.52901e-43	1.70889e-43	1	1	0
LGI1	9211	broad.mit.edu	37	10	95552582	95552582	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:95552582G>C	ENST00000371418.4	+	6	846	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	LGI1_ENST00000542308.1_Missense_Mutation_p.E148Q|LGI1_ENST00000371413.3_Missense_Mutation_p.E196Q	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	196	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGCAACTGTTGAAGACATCTA	0.428000													32	54					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567432	5567432	+	Silent	SNP	C	C	T	rs35269869		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:5567432C>T	ENST00000315238.1	+	1	509	c.384C>T	c.(382-384)gcC>gcT	p.A128A	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	128	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						TGATCCGGGCCGCGGACACGG	0.672000													6	46					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72277732	72277732	+	RNA	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:72277732G>A	ENST00000438904.2	-	0	748				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATGTTGGTGAGATTCACATTT	0.512000													15	0					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758841	20758841	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:20758841C>A	ENST00000274695.4	+	7	651	c.484C>A	c.(484-486)Cgt>Agt	p.R162S	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R162S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.R92S	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	162	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R162C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCAGATAGATCGTGTGGTAGA	0.328000													12	838					9.31168e-06	9.60328e-06	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112471719	112471719	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:112471719C>T	ENST00000230538.7	-	17	2564	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E716K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E716K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E716K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	723	Domain II and I.				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)		TTACCTCTCTCTGCTGCTTGT	0.458000													27	92					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586334	50586334	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:50586334G>C	ENST00000378182.3	+	2	996	c.258G>C	c.(256-258)aaG>aaC	p.K86N	TRIM13_ENST00000457662.2_Missense_Mutation_p.K86N|TRIM13_ENST00000356017.4_Missense_Mutation_p.K89N|TRIM13_ENST00000298772.5_Missense_Mutation_p.K89N|TRIM13_ENST00000420995.2_Missense_Mutation_p.K86N|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	86					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ACAAGATCAAGATCTCTCCCA	0.443000													5	124					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251883	25251883	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:25251883T>C	ENST00000328086.7	-	7	2961	c.2158A>G	c.(2158-2160)Att>Gtt	p.I720V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	720					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCCTGTCTAATTCCTTGAAGA	0.443000													20	24					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52720694	52720694	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:52720694C>T	ENST00000399231.3	-	3	454	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	MYO5A_ENST00000399233.2_Missense_Mutation_p.E71K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E71K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E71K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E71K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	71	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGGTCATTTTCACCAACAAGT	0.438000													32	78					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481900	228481900	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:228481900G>A	ENST00000570156.2	+	47	12540	c.12466G>A	c.(12466-12468)Gaa>Aaa	p.E4156K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E846K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3727K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2574K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E846K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3727K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3198	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGCCACAGAAGGGGACAC	0.557000													76	76					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106555065	106555065	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:106555065G>A	ENST00000369096.4	+	7	2416	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	PRDM1_ENST00000369089.3_Missense_Mutation_p.E594K|PRDM1_ENST00000369091.2_Missense_Mutation_p.E692K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	728					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCGAATCAATGAAGAAATCGA	0.532000			"""D, N, Mis, F, S"""		DLBCL								118	69					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40502316	40502316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:40502316G>T	ENST00000287598.6	+	18	2485	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.E778*	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	764					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AACAGGTAATGAGGATTACTG	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				27	17					2.48779e-11	2.66588e-11	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114380274	114380274	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:114380274G>T	ENST00000359785.5	-	13	1883	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y	PTPN22_ENST00000538253.1_Missense_Mutation_p.S339Y|PTPN22_ENST00000525799.1_Missense_Mutation_p.S456Y|PTPN22_ENST00000420377.2_Missense_Mutation_p.S583Y|PTPN22_ENST00000528414.1_Missense_Mutation_p.S528Y|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	583					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		CAGTGATAAAGAATCATGTGA	0.348000													19	34					3.8784e-16	4.22011e-16	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44051365	44051365	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:44051365G>A	ENST00000405322.1	-	5	1494	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	ABCG5_ENST00000260645.1_Missense_Mutation_p.L371F|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	371	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACCTCAGGAGAACACCCAGT	0.383000													29	50					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220331989	220331989	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:220331989C>T	ENST00000312358.7	+	10	3107	c.2975C>T	c.(2974-2976)gCg>gTg	p.A992V	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	992	Ig-like 4.				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)		TGCCTGGTGGCGGGGCCCACT	0.662000													28	32					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129794495	129794495	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:129794495G>A	ENST00000421865.2	+	52	7486	c.7437G>A	c.(7435-7437)ttG>ttA	p.L2479L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2479	Laminin G-like 2.				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)		TGAGAAACTTGAGGTAATTTA	0.333000													24	23					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120969739	120969739	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:120969739G>C	ENST00000222462.2	+	2	504	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E62Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	72					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAGCATCCGAGAGGGCGCCCG	0.647000													33	47					0	0	1	0	0
CYSTM1	84418	broad.mit.edu	37	5	139574132	139574132	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:139574132C>T	ENST00000261811.4	+	2	746	c.82C>T	c.(82-84)Cca>Tca	p.P28S	CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN	cysteine-rich transmembrane module containing 1	28	Pro-rich.																ACCAATGGGTCCAGGACCTAT	0.587000													11	54					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199499	96199499	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:96199499A>G	ENST00000453304.1	-	4	853	c.505T>C	c.(505-507)Ttt>Ctt	p.F169L	UNC5C_ENST00000504962.1_Missense_Mutation_p.F169L|UNC5C_ENST00000506749.1_Missense_Mutation_p.F169L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	169	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTGCTCAAATGTCTTCCGT	0.403000													14	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566789	179566789	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:179566789G>A	ENST00000589042.1	-	109	30740	c.30516C>T	c.(30514-30516)atC>atT	p.I10172I	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I9855I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8928I|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9855	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCAAGTTTGATTTCTGCAA	0.353000													10	37					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989308	73989308	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:73989308C>G	ENST00000553558.1	-	3	870	c.549G>C	c.(547-549)gtG>gtC	p.V183V	HEATR4_ENST00000560393.1_Silent_p.V136V|HEATR4_ENST00000334988.2_Silent_p.V183V	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTCCAGGTTCACATCTAGAG	0.592000													5	32					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179052001	179052001	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:179052001G>A	ENST00000326361.3	+	7	1694	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	ZNF639_ENST00000484866.1_Missense_Mutation_p.E417K|ZNF639_ENST00000496856.1_Missense_Mutation_p.E417K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	417	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAGTATGCTAGAATATTGCAA	0.303000													62	45					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382314	68382314	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:68382314G>C	ENST00000361478.1	-	2	1145	c.768C>G	c.(766-768)gtC>gtG	p.V256V	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.V201V|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Silent_p.V256V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	256							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTTTGGGCCTGACCACAGGTT	0.468000													25	43					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	19					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433000													7	19					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101449	80101449	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:80101449C>T	ENST00000466387.1	+	10	1557	c.833C>T	c.(832-834)gCg>gTg	p.A278V	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A278V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A278V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A312V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A278V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A278V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	278					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGCTGGCTGCGGCTCTTAAT	0.547000													18	22					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223325	140223325	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:140223325C>G	ENST00000378123.3	+	1	2419	c.2419C>G	c.(2419-2421)Cat>Gat	p.H807D	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031856.1	NP_114062.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAGAACTCATAAATTCTA	0.318000													12	14					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39178763	39178763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:39178763C>G	ENST00000301819.6	+	25	3536	c.3359C>G	c.(3358-3360)tCa>tGa	p.S1120*	TTC21A_ENST00000431162.2_Nonsense_Mutation_p.S1119*|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.S1071*|TTC21A_ENST00000493856.1_3'UTR	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1119							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACCCACATTCAGACTCCAGC	0.602000													13	31					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273869	100273869	+	RNA	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:100273869G>C	ENST00000515683.1	-	0	315				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGAGGCTGGTGAGTACTTGTG	0.368000													17	36					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132561983	132561983	+	Missense_Mutation	SNP	C	C	T	rs150495795	byFrequency	TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:132561983C>T	ENST00000333577.4	+	54	9354	c.9245C>T	c.(9244-9246)gCg>gTg	p.A3082V	EP400_ENST00000389561.2_Missense_Mutation_p.A3046V|EP400_ENST00000389562.2_Missense_Mutation_p.A3045V|EP400_ENST00000332482.4_Missense_Mutation_p.A3009V|EP400_ENST00000330386.6_Missense_Mutation_p.A2965V			Q96L91	EP400_HUMAN	E1A binding protein p400	3082					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGCGACGGCGGCCGGGCAG	0.612000													15	41					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991037	140991037	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:140991037C>G	ENST00000277549.5	+	37	5347	c.2778C>G	c.(2776-2778)gtC>gtG	p.V926V	CACNA1B_ENST00000371363.1_Silent_p.V1730V|CACNA1B_ENST00000371357.1_Silent_p.V1731V|CACNA1B_ENST00000277551.2_Silent_p.V1732V|CACNA1B_ENST00000371372.1_Silent_p.V1732V|CACNA1B_ENST00000371365.2_Silent_p.V96V|CACNA1B_ENST00000371355.4_Silent_p.V1733V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1732					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCATCCGGGTCTGGGCTGAAT	0.562000													26	20					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114449079	114449079	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:114449079T>G	ENST00000297405.5	-	1	249	c.5A>C	c.(4-6)aAa>aCa	p.K2T	CSMD3_ENST00000352409.3_Missense_Mutation_p.K2T|CSMD3_ENST00000455883.2_Missense_Mutation_p.K2T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2						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						GCGGATCCCTTTCATATTATT	0.547000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	58					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412791	105412791	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:105412791G>A	ENST00000333244.5	-	7	9116	c.8997C>T	c.(8995-8997)gtC>gtT	p.V2999V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2999						nucleus				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)			CATCCACCGAGACCTCAATGG	0.587000													216	232					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815742	179815742	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:179815742G>C	ENST00000367612.3	-	6	1264	c.877C>G	c.(877-879)Cca>Gca	p.P293A	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.P293A	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	293						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATGGTGGCTGGCTCAGTGGGG	0.522000													35	78					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952180	85952180	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:85952180G>A	ENST00000268638.5	+	7	1181	c.759G>A	c.(757-759)ccG>ccA	p.P253P	IRF8_ENST00000562492.1_Silent_p.P49P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741000													5	23					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65084303	65084303	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:65084303C>T	ENST00000380985.5	+	8	1495	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	NLN_ENST00000502464.1_Silent_p.L335L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	439					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATTTGGACCTCTATCCAAGGT	0.443000													55	71					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778006	159778006	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:159778006G>A	ENST00000321935.6	+	4	198	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	FCRL6_ENST00000368106.3_Missense_Mutation_p.E31K|FCRL6_ENST00000339348.5_Missense_Mutation_p.E31K|FCRL6_ENST00000392235.3_Missense_Mutation_p.E31K	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	31	Ig-like C2-type 1.					integral to membrane		p.E31Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTGTGTTTGAAGGAGATGC	0.517000													73	44					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168475968	168475968	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:168475968C>T	ENST00000283309.6	-	2	325	c.261G>A	c.(259-261)gcG>gcA	p.A87A	FRMD1_ENST00000440994.2_Silent_p.A19A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	87	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCTGATGCTCGCCACGTTGC	0.627000													59	50					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771482	157771482	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:157771482T>C	ENST00000502773.1	-	2	695	c.205A>G	c.(205-207)Aga>Gga	p.R69G	PDGFC_ENST00000422544.2_Missense_Mutation_p.R69G|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	69	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ACCGTATTTCTTGGATAAGTA	0.383000													15	16					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117047041	117047041	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:117047041G>A	ENST00000356083.3	+	41	4362	c.3971G>A	c.(3970-3972)gGa>gAa	p.G1324E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1324	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGACCTCCTGGACCAAAAGGC	0.567000													36	3					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1796148	1796148	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:1796148G>T	ENST00000399161.2	-	24	4112	c.3365C>A	c.(3364-3366)gCg>gAg	p.A1122E	MYT1L_ENST00000407844.1_Missense_Mutation_p.A120E|MYT1L_ENST00000428368.2_Missense_Mutation_p.A1120E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1122					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTCAGGTTCGCCAGCTCGTG	0.542000													8	13					0.000274275	0.000279942	1	1	0
BRCA1	672	broad.mit.edu	37	17	41267787	41267787	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:41267787C>G	ENST00000357654.3	-	3	208	c.90G>C	c.(88-90)ttG>ttC	p.L30F	BRCA1_ENST00000471181.2_Missense_Mutation_p.L30F|BRCA1_ENST00000468300.1_Missense_Mutation_p.L30F|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.L30F|BRCA1_ENST00000309486.4_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.L30F|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.L30F|BRCA1_ENST00000493795.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.L30F|BRCA1_ENST00000354071.3_Missense_Mutation_p.L30F	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	30			L -> F (in a breast cancer sample; somatic mutation).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.L30F(2)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTTGATCAACTCCAGAC	0.343000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	24					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30782063	30782063	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:30782063C>T	ENST00000382363.3	-	3	571	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	166						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						ATTTACCTCTCGGACCACGTT	0.607000													7	20					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791596	42791596	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:42791596A>T	ENST00000572681.2	+	5	3372	c.3304A>T	c.(3304-3306)Aac>Tac	p.N1102Y	CIC_ENST00000160740.3_Missense_Mutation_p.N193Y|CIC_ENST00000575354.2_Missense_Mutation_p.N193Y			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	193	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACGCAGCCCCAACAAGGTACT	0.592000			"""Mis, F, S"""		oligodendroglioma								23	34					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475793	42475793	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:42475793C>T	ENST00000434000.1	-	9	3700	c.3418G>A	c.(3418-3420)Gat>Aat	p.D1140N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.D1218N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1218						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACAGGGTGATCAGCAGTAGCT	0.552000													68	48					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61489042	61489042	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:61489042G>A	ENST00000424789.2	+	20	3542	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1180K|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1180							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGCGATGCTGAGGTGGTAAG	0.498000													17	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429788	179429788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:179429788G>T	ENST00000589042.1	-	326	81295	c.81071C>A	c.(81070-81072)tCa>tAa	p.S27024*	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S18151*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S25383*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S18084*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S17959*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S24456*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25383	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGTTGCTGATACCATGTG	0.423000													13	303					3.27435e-08	3.46366e-08	1	1	0
NPTX1	4884	broad.mit.edu	37	17	78447223	78447223	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:78447223C>A	ENST00000306773.4	-	3	831	c.674G>T	c.(673-675)gGa>gTa	p.G225V	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	225					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GAACTTGTCTCCAGGGCGGTT	0.537000													26	79					3.69857e-22	4.08745e-22	1	1	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													3	31					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49137692	49137692	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:49137692G>C	ENST00000306125.6	-	13	1432	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Silent_p.L354L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	365					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TATGGCCTTTGAGCTCCTCTC	0.587000													20	18					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95686626	95686626	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:95686626G>A	ENST00000433389.2	+	12	1733	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	ESRP1_ENST00000423620.2_Missense_Mutation_p.D515N|ESRP1_ENST00000358397.5_Missense_Mutation_p.D515N|ESRP1_ENST00000454170.2_Missense_Mutation_p.D515N	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	515	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAACATGAAGGACAGATATGT	0.453000													17	88					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352398	27352398	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:27352398G>T	ENST00000316470.4	+	5	635	c.521G>T	c.(520-522)tGt>tTt	p.C174F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	174						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCTTTTTGTGCCAGCAAT	0.532000													17	72					1.56452e-12	1.68382e-12	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41853506	41853506	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:41853506C>G	ENST00000263798.3	+	2	530	c.306C>G	c.(304-306)ctC>ctG	p.L102L	TYRO3_ENST00000559066.1_Silent_p.L57L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	102	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCGGCTTCCTCAGGTGCAGGC	0.622000													8	25					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730608	37730608	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:37730608G>A	ENST00000330843.4	-	4	1724	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	571	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCCTGGCCAGAGCTAGAAGG	0.552000													20	98					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26676409	26676409	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:26676409G>A	ENST00000288710.2	+	14	1985	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TGGGTCTGAAGAAGCCTAGGT	0.612000													17	20					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102820896	102820896	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:102820896G>A	ENST00000260302.3	-	6	888	c.860C>T	c.(859-861)tCc>tTc	p.S287F	MMP13_ENST00000340273.4_Missense_Mutation_p.S287F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	287					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGGGATAAGGAAGGGTCACA	0.433000													27	80					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19576481	19576481	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:19576481G>A	ENST00000339618.4	+	10	1682	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000176643.6_Intron|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Silent_p.L487L	NM_001031806.1	NP_001026976.1	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	0					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AAGCTGTGCTGAGGAGAAAGG	0.448000													50	380					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134339688	134339688	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:134339688C>G	ENST00000508956.1	-	6	489	c.432G>C	c.(430-432)aaG>aaC	p.K144N	KY_ENST00000503669.1_Missense_Mutation_p.K165N|KY_ENST00000423778.2_Missense_Mutation_p.K165N|KY_ENST00000508041.1_5'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	165						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTAGGCCACTCTTGGCTGTCA	0.602000													7	3					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718913	95718913	+	RNA	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:95718913C>T	ENST00000480546.1	-	0	2384					NR_002319.2																						TGATGGTCATCTTCAGCAGGG	0.577000													14	16					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819662	43819662	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:43819662C>T	ENST00000382031.1	+	5	6736	c.6705C>T	c.(6703-6705)ccC>ccT	p.P2235P	MAP1A_ENST00000399453.1_Silent_p.P1997P|MAP1A_ENST00000300231.5_Silent_p.P1997P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1997						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGATTGGCCCCCATGCCTCT	0.562000													21	83					0	0	1	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073522	3073522	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:3073522G>A	ENST00000248089.3	-	2	409	c.105C>T	c.(103-105)ctC>ctT	p.L35L	HCFC1R1_ENST00000572355.1_5'UTR|HCFC1R1_ENST00000574151.1_Intron|HCFC1R1_ENST00000396916.1_Silent_p.L35L|HCFC1R1_ENST00000574980.1_Silent_p.L35L|HCFC1R1_ENST00000354679.3_Intron	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	35						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CAGCTCCTCGGAGAGGGGAGC	0.632000													6	28					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679273	37679273	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:37679273C>T	ENST00000379800.3	-	1	530	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	41	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTACGTCCTCGCCGTTGGTG	0.537000													5	149					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37452445	37452445	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:37452445C>T	ENST00000403888.3	+	3	406	c.405C>T	c.(403-405)gtC>gtT	p.V135V	KCTD17_ENST00000402077.3_Silent_p.V135V	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	135						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ACTACACGGTCACCCAGGTCG	0.632000													19	5					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46323308	46323308	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr21:46323308G>A	ENST00000397850.2	-	6	923	c.471C>T	c.(469-471)ctC>ctT	p.L157L	ITGB2_ENST00000397857.1_Silent_p.L157L|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000302347.5_Silent_p.L157L|ITGB2_ENST00000397852.1_Silent_p.L157L|ITGB2_ENST00000355153.4_Silent_p.L157L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	157	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGATCTCGTTGAGGGCCCGGA	0.597000													43	39					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623860	118623860	+	Silent	SNP	A	A	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:118623860A>C	ENST00000336338.5	-	15	2138	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	691						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAGGATCTGAAGGTTCTCGGT	0.373000													8	104					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	5					4.11147e-13	4.43465e-13	1	1	0
TBC1D16	125058	broad.mit.edu	37	17	77925392	77925392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:77925392C>A	ENST00000310924.2	-	5	1061	c.946G>T	c.(946-948)Gag>Tag	p.E316*		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	316						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GTGCAGGCCTCGTCGCTGAAG	0.572000													13	39					0.00185496	0.00186629	1	1	0
HEATR4	399671	broad.mit.edu	37	14	73987709	73987709	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:73987709C>G	ENST00000553558.1	-	4	1237	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	HEATR4_ENST00000560393.1_Missense_Mutation_p.E259Q|HEATR4_ENST00000334988.2_Missense_Mutation_p.E306Q	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGCATGATCTCAACTGTCTCT	0.532000													31	108					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179051938	179051938	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:179051938G>C	ENST00000326361.3	+	7	1631	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	ZNF639_ENST00000484866.1_Missense_Mutation_p.E396Q|ZNF639_ENST00000496856.1_Missense_Mutation_p.E396Q	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	396	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGTTGCTATTGAACATACAAA	0.328000													64	59					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873504	21873504	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:21873504C>G	ENST00000399982.2	-	15	3235	c.3171G>C	c.(3169-3171)caG>caC	p.Q1057H	CHD8_ENST00000557364.1_Missense_Mutation_p.Q1057H|CHD8_ENST00000430710.3_Missense_Mutation_p.Q778H|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1057					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTATTTCTTCTGGATATTAG	0.388000													5	18					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510374	142510374	+	RNA	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:142510374G>C	ENST00000417977.2	-	0	343																											AGATTCTGGGGCACCTCAGAG	0.557000													4	3					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322047	105322047	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:105322047G>T	ENST00000258538.3	-	1	386	c.259C>A	c.(259-261)Cac>Aac	p.H87N		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	87						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GAGAAACTGTGATACTCCATG	0.408000													38	16					2.19358e-23	2.4406e-23	1	1	0
RPL10L	140801	broad.mit.edu	37	14	47120529	47120529	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:47120529G>C	ENST00000298283.3	-	1	499	c.411C>G	c.(409-411)tcC>tcG	p.S137S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	137					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGGTGCGGATGGACATGATGA	0.547000													6	87					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57501443	57501443	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:57501443G>A	ENST00000300134.3	-	3	525	c.200C>T	c.(199-201)tCg>tTg	p.S67L	STAT6_ENST00000454075.3_Missense_Mutation_p.S67L|STAT6_ENST00000556155.1_Missense_Mutation_p.S67L|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_5'UTR|STAT6_ENST00000543873.2_Missense_Mutation_p.S67L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	67					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTCTCCCACCGAGGCCTGAAG	0.622000													6	36					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18037360	18037360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:18037360C>A	ENST00000278780.6	-	2	504	c.262G>T	c.(262-264)Gag>Tag	p.E88*	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	88					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TCGGGGCCCTCGGCGTCGCCG	0.721000													5	3					0.000602214	0.000609619	1	1	0
MSLNL	401827	broad.mit.edu	37	16	820213	820213	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:820213G>A	ENST00000293892.3	-	15	2771	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000442466.1_Silent_p.T573T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	573					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGGCCCTGACGGTGGGGTGGC	0.711000													9	14					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71211401	71211401	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:71211401G>A	ENST00000260382.5	+	7	840	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	LRRC49_ENST00000560369.1_Missense_Mutation_p.E199K|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.E150K|LRRC49_ENST00000544974.2_Missense_Mutation_p.E184K|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	194						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TACCAAAATTGAAAATATTAA	0.303000													26	77					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918137	48918137	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:48918137C>G	ENST00000311378.4	+	2	2016	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.L403L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	496	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AAATGGGCCTCAAGTTCCTGG	0.607000													7	27					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19823780	19823780	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:19823780C>T	ENST00000344099.3	-	4	448	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGCTGCATTCATGTGGTTTT	0.398000													33	66					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71939297	71939297	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:71939297G>A	ENST00000298229.2	+	2	450	c.246G>A	c.(244-246)caG>caA	p.Q82Q	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	82	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGCTGTGCAGGTAGGAGCTT	0.597000													22	50					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988923	41988923	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:41988923C>T	ENST00000219905.7	+	3	1896	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	MGA_ENST00000389936.4_Missense_Mutation_p.S572L|MGA_ENST00000545763.1_Missense_Mutation_p.S572L|MGA_ENST00000570161.1_Missense_Mutation_p.S572L|MGA_ENST00000566586.1_Missense_Mutation_p.S572L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	572						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)		TCAAAGGATTCAGTTGGAGAC	0.403000													8	6					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1052104	1052104	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:1052104G>A	ENST00000263094.6	+	22	3357	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	ABCA7_ENST00000433129.1_Silent_p.L1042L|ABCA7_ENST00000435683.2_Silent_p.L904L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1042					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCGCCTGCCCCTGACCA	0.667000													10	19					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016180	106016180	+	Silent	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:106016180G>T	ENST00000255499.2	+	2	772	c.522G>T	c.(520-522)ctG>ctT	p.L174L	RNF128_ENST00000324342.3_Silent_p.L148L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	174	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCGGCAATCTGAAAGGCACAA	0.353000													14	35					0.000308642	0.000313722	1	1	0
KLHL28	54813	broad.mit.edu	37	14	45414609	45414609	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:45414609C>G	ENST00000396128.4	-	2	642	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	KLHL28_ENST00000355081.2_Missense_Mutation_p.E189Q	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	175										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTGTAAGCTCAAAAAACTCT	0.383000													80	26					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92195775	92195775	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:92195775C>G	ENST00000256343.3	-	2	205	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	17					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGAAAATTCAAATATGTTC	0.289000													23	18					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20481452	20481452	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:20481452C>T	ENST00000346618.3	+	3	587	c.521C>T	c.(520-522)tCa>tTa	p.S174L	E2F3_ENST00000535432.1_Intron	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	174					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AAATCTCCCTCAGAAAAAACG	0.473000													19	1376					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538315	38538315	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr21:38538315G>A	ENST00000399017.2	+	33	6546	c.3799G>A	c.(3799-3801)Gag>Aag	p.E1267K	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1267K|TTC3_ENST00000354749.2_Missense_Mutation_p.E1267K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1267					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACAAGTTTCTGAGGATGGGCA	0.463000													27	55					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110170872	110170872	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:110170872G>A	ENST00000256578.3	+	10	1770	c.1410G>A	c.(1408-1410)ctG>ctA	p.L470L	AMPD2_ENST00000528667.1_Silent_p.L470L|AMPD2_ENST00000342115.4_Silent_p.L389L|AMPD2_ENST00000528454.1_Silent_p.L352L|AMPD2_ENST00000358729.4_Silent_p.L395L|AMPD2_ENST00000393688.3_Silent_p.L351L|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	470					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTACGACCTGAGTGTGGACA	0.617000													14	11					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631585	9631585	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:9631585G>C	ENST00000285199.7	+	15	2746	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q	USP43_ENST00000570475.1_Missense_Mutation_p.E879Q|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCGGGCCATTGAAAGAGGTCC	0.602000													21	8					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46803191	46803191	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:46803191C>T	ENST00000230588.4	+	13	1998	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	663					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)			CCCTGGAGGACCATAACTGGC	0.597000													3	17					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65849957	65849957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:65849957C>T	ENST00000395325.3	+	6	734	c.577C>T	c.(577-579)Cga>Tga	p.R193*	DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.R180*|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.R250*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	193	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCAGCCATTCGATTGCTATA	0.448000													10	40					0	0	1	0	0
FAM204A	63877	broad.mit.edu	37	10	120095856	120095856	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:120095856C>T	ENST00000369183.4	-	3	331	c.72G>A	c.(70-72)acG>acA	p.T24T	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Silent_p.T24T	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	24										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						AGTTCTCCAACGTAGCTTCAT	0.393000													29	4					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371373	126371373	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:126371373C>G	ENST00000394329.3	+	9	9215	c.9202C>G	c.(9202-9204)Cca>Gca	p.P3068A	FAT4_ENST00000335110.5_Missense_Mutation_p.P1366A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3068	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGAAACCCTCCACTTTCTTC	0.443000													14	51					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776603	4776603	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:4776603C>T	ENST00000379400.3	-	5	340	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	49					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACAATGAACTCGTCTTCTTCC	0.552000													22	18					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604204	71604204	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:71604204C>G	ENST00000355962.4	-	9	1142	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	337					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGGTAAAACTCTCCCGGGGTG	0.542000													8	39					0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41239723	41239723	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:41239723C>G	ENST00000379561.5	-	1	1011	c.627G>C	c.(625-627)tgG>tgC	p.W209C		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	209					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CACTCACCTTCCAGCCCGCCG	0.667000													11	12					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931634	115931634	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:115931634G>C	ENST00000238256.3	-	26	3472	c.3355C>G	c.(3355-3357)Cag>Gag	p.Q1119E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1119					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTGGAGGCTGAGGCTCTCCT	0.587000													19	20					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24467416	24467416	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:24467416G>A	ENST00000230036.1	-	8	742	c.632C>T	c.(631-633)tCa>tTa	p.S211L	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	211						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTGGATATGTGAACAATCAAC	0.368000													20	18					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106801	186106801	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:186106801G>A	ENST00000271588.4	+	88	13982		c.e88+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTGTCCAGGTACACCTCCT	0.443000													5	35					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655501	233655501	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:233655501G>A	ENST00000373566.3	+	11	1069	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	GIGYF2_ENST00000409451.3_Missense_Mutation_p.R291Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R291Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R263Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R100Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R269Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R269Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	269					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CGGGGTTACCGAAGGGTTCGC	0.507000													48	41					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49158974	49158974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:49158974C>A	ENST00000418109.1	-	32	5316	c.5152G>T	c.(5152-5154)Gag>Tag	p.E1718*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1718*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1718	Domain I.				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)		GCCTTGCGCTCAGCTAGGGCC	0.612000													39	37					3.33393e-15	3.6197e-15	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50916637	50916637	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:50916637G>C	ENST00000374112.3	+	3	460	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	C10orf53_ENST00000535836.1_Missense_Mutation_p.E150Q	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				ttctggactagagaagagggg	0.463000													27	19					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480669	35480669	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:35480669C>T	ENST00000357182.4	-	5	750	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.E175K|ZMYM6_ENST00000373340.2_Missense_Mutation_p.E175K	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	175					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCTTTAGCTCATAAGATGAC	0.338000													8	33					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951635	44951635	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:44951635G>C	ENST00000296125.4	+	11	1449	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	461					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTCAGTTCTGAGAGGGAGCA	0.488000													46	30					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027317	41027317	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:41027317G>A	ENST00000324545.8	+	18	3115	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	USP9X_ENST00000378308.2_Missense_Mutation_p.D828N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCTTCCTATGACACATTGTG	0.368000													46	1					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91352969	91352969	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:91352969C>T	ENST00000307534.4	-	5	1751	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	PANK1_ENST00000322191.6_Missense_Mutation_p.M248I|PANK1_ENST00000371774.2_Missense_Mutation_p.M334I|PANK1_ENST00000342512.3_Missense_Mutation_p.M307I	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	532					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TCAACGCGCACATCCGAGCAA	0.483000													21	28					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15063847	15063847	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:15063847G>A	ENST00000538197.1	+	11	2840	c.2840G>A	c.(2839-2841)cGg>cAg	p.R947Q	CPEB2_ENST00000345451.3_Missense_Mutation_p.R472Q|CPEB2_ENST00000259997.5_Missense_Mutation_p.R510Q|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.R920Q|CPEB2_ENST00000382401.3_Missense_Mutation_p.R475Q|CPEB2_ENST00000541112.1_Missense_Mutation_p.R939Q|CPEB2_ENST00000382395.3_Missense_Mutation_p.R480Q|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000507071.1_Missense_Mutation_p.R502Q	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	502					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATTAGTGCTCGGTTTGTTCAG	0.418000													80	57					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9305819	9305819	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:9305819C>G	ENST00000261336.2	-	30	3923	c.3895G>C	c.(3895-3897)Gac>Cac	p.D1299H	PZP_ENST00000381997.2_Missense_Mutation_p.D1085H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTTGTTGTCTACTTGGAAA	0.458000													72	30					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833076	130833076	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:130833076T>C	ENST00000357462.5	-	15	2062	c.1969A>G	c.(1969-1971)Atg>Gtg	p.M657V	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.M657V|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	657						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGTCTTAGCATGGCAATTTCT	0.343000													12	15					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57059316	57059316	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:57059316C>G	ENST00000436936.1	+	6	686	c.461C>G	c.(460-462)tCt>tGt	p.S154C	NLRC5_ENST00000308149.7_Missense_Mutation_p.S154C|NLRC5_ENST00000539144.1_Missense_Mutation_p.S154C|NLRC5_ENST00000262510.6_Missense_Mutation_p.S154C			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	154					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGGACCTCTGCCCAGCAG	0.642000													31	35					0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124669910	124669910	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:124669910C>T	ENST00000239614.4	-	1	659	c.367G>A	c.(367-369)Gag>Aag	p.E123K	MSANTD2_ENST00000524950.1_Missense_Mutation_p.E123K|MSANTD2_ENST00000374979.3_Missense_Mutation_p.E123K	NM_024631.2	NP_078907.2	Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	123																	TACCGCGCCTCCACCAGCCGC	0.751000													5	7					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238793	6238793	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:6238793C>G	ENST00000265978.4	-	9	2423	c.2065G>C	c.(2065-2067)Ggg>Cgg	p.G689R	FAM160A2_ENST00000449352.2_Missense_Mutation_p.G675R|FAM160A2_ENST00000524416.1_Missense_Mutation_p.G675R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	675					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTCCTGCCCAAAGCCCTCT	0.617000													23	34					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554329	20554329	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:20554329C>G	ENST00000329697.6	-	12	1584	c.1416G>C	c.(1414-1416)cgG>cgC	p.R472R	ACSM2B_ENST00000567001.1_Silent_p.R472R|ACSM2B_ENST00000565322.1_Silent_p.R393R|ACSM2B_ENST00000565232.1_Silent_p.R472R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	472					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGGTCCAATCCGGTACCTGC	0.562000													42	35					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8456497	8456497	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:8456497G>T	ENST00000389737.4	+	6	1160	c.1160G>T	c.(1159-1161)aGa>aTa	p.R387I	RP11-689P11.3_ENST00000515186.1_RNA|TRMT44_ENST00000513449.2_Missense_Mutation_p.R146I	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GATGTCCGAAGAAGAAAAATC	0.393000													14	30					2.23348e-06	2.31794e-06	1	1	0
SP5	389058	broad.mit.edu	37	2	171572874	171572874	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:171572874G>A	ENST00000375281.3	+	2	319	c.157G>A	c.(157-159)Gac>Aac	p.D53N	SP5_ENST00000487037.1_3'UTR	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						ggcgcccccggACTTCCTGCA	0.756000													7	19					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98290308	98290308	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:98290308G>A	ENST00000371142.4	-	11	1599	c.1383C>T	c.(1381-1383)atC>atT	p.I461I		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	461						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTTCAATAAAGATTGAACCAA	0.308000													5	13					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75040385	75040385	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:75040385G>C	ENST00000395759.2	+	2	333	c.306G>C	c.(304-306)aaG>aaC	p.K102N	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.K44N|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.K44N|MTHFD2L_ENST00000433372.1_5'UTR	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	44					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCAGGAATAAGATAAGAGCTG	0.373000													47	30					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47440550	47440550	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:47440550C>G	ENST00000404338.3	+	2	3711	c.3711C>G	c.(3709-3711)atC>atG	p.I1237M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1237					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGCCATCCATCACAAAGGCAA	0.438000													20	32					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75880599	75880599	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:75880599C>G	ENST00000377636.3	-	15	2948	c.2602G>C	c.(2602-2604)Gat>Cat	p.D868H	TBC1D4_ENST00000431480.2_Missense_Mutation_p.D860H|TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D805H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	868						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGGAGTTCATCTCTGCTTGCT	0.328000													13	25					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892462	22892462	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:22892462C>T	ENST00000543184.1	-	4	1501	c.639G>A	c.(637-639)ctG>ctA	p.L213L	PRAME_ENST00000405655.3_Silent_p.L213L|PRAME_ENST00000398741.1_Silent_p.L213L|PRAME_ENST00000402697.1_Silent_p.L213L|PRAME_ENST00000424204.2_Silent_p.L197L|PRAME_ENST00000398743.2_Silent_p.L213L|PRAME_ENST00000539862.1_Silent_p.L197L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	213					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAAAAATCTTCAGCTTCTTAC	0.433000													18	66					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440194	135440194	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:135440194G>A	ENST00000443774.1	-	1	102	c.53C>T	c.(52-54)tCc>tTc	p.S18F	FRG2B_ENST00000425520.1_Missense_Mutation_p.S18F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	18						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGGTCAGTGGAGCACTGGAT	0.507000													16	131					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155006975	155006975	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:155006975G>A	ENST00000295542.1	+	3	222	c.126G>A	c.(124-126)ccG>ccA	p.P42P	DCST1_ENST00000392480.1_Silent_p.P42P|DCST1_ENST00000423025.2_Silent_p.P42P|DCST1_ENST00000368419.2_Silent_p.P42P	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	42						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCGCCAGCCGGGCGAGTTTC	0.652000													5	109					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42057198	42057198	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:42057198C>G	ENST00000219905.7	+	23	8040	c.7859C>G	c.(7858-7860)tCt>tGt	p.S2620C	MGA_ENST00000389936.4_Missense_Mutation_p.S2581C|MGA_ENST00000545763.1_Missense_Mutation_p.S2411C|MGA_ENST00000570161.1_Missense_Mutation_p.S2620C|MGA_ENST00000566586.1_Missense_Mutation_p.S2411C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2581						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)		GTAGCTGTTTCTCCTGATCTC	0.478000													11	134					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378735	28378735	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:28378735C>G	ENST00000337532.5	-	13	1264	c.988G>C	c.(988-990)Gat>Cat	p.D330H	MPP7_ENST00000375719.3_Missense_Mutation_p.D330H|MPP7_ENST00000540098.1_Missense_Mutation_p.D330H|MPP7_ENST00000445954.2_Missense_Mutation_p.D205H|MPP7_ENST00000375732.1_Missense_Mutation_p.D330H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	330					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTTTCTTATCTTTTCTACTA	0.328000													20	112					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78682877	78682877	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:78682877G>A	ENST00000545128.1	+	6	1177	c.639G>A	c.(637-639)ggG>ggA	p.G213G	PCSK5_ENST00000376752.4_Silent_p.G213G|PCSK5_ENST00000376767.3_Silent_p.G213G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	213	Catalytic.				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						GCAGGCATGGGACTCGCTGTG	0.517000													20	35					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22165247	22165247	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:22165247C>G	ENST00000344041.6	-	25	2364	c.2052G>C	c.(2050-2052)ctG>ctC	p.L684L	RAPGEF5_ENST00000401957.2_Silent_p.L534L	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	534					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGCAGTGTCTCAGGGTTCGGA	0.468000													70	70					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188583994	188583994	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:188583994C>G	ENST00000312675.4	+	9	1663	c.1417C>G	c.(1417-1419)Ctg>Gtg	p.L473V	LPP_ENST00000543006.1_Missense_Mutation_p.L473V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	473	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGAATACTCTGGAGCAGTG	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								26	15					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5945104	5945104	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:5945104C>T	ENST00000379999.5	+	3	380	c.276C>T	c.(274-276)ctC>ctT	p.L92L	FBXO18_ENST00000362091.4_Silent_p.L41L|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	41					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						ACCATGGTCTCTATCCTAAAC	0.473000													45	68					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75478332	75478332	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:75478332C>T	ENST00000329047.8	+	3	1586	c.774C>T	c.(772-774)ttC>ttT	p.F258F	SEPT9_ENST00000592420.1_Silent_p.F85F|SEPT9_ENST00000427674.2_Silent_p.F112F|SEPT9_ENST00000449803.2_Silent_p.F112F|SEPT9_ENST00000591198.1_Silent_p.F257F|SEPT9_ENST00000427180.1_Silent_p.F164F|SEPT9_ENST00000592951.1_Silent_p.F25F|SEPT9_ENST00000585930.1_Silent_p.F52F|SEPT9_ENST00000591088.1_Silent_p.F25F|SEPT9_ENST00000423034.2_Silent_p.F269F|SEPT9_ENST00000590917.1_Silent_p.F25F|SEPT9_ENST00000431235.2_Silent_p.F112F|SEPT9_ENST00000541152.2_Silent_p.F25F|SEPT9_ENST00000427177.1_Silent_p.F276F|SEPT9_ENST00000588690.1_Silent_p.F112F|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000590294.1_Silent_p.F258F	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	276					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CGGTGGACTTCGGCTACGTGG	0.632000													7	27					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110433152	110433152	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:110433152C>G	ENST00000265175.5	+	9	1871	c.1816C>G	c.(1816-1818)Cga>Gga	p.R606G	SEC24B_ENST00000399100.2_Missense_Mutation_p.R571G|SEC24B_ENST00000504968.2_Missense_Mutation_p.R636G	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	606	Zinc finger-like.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGTGAGGTGCCGATCCTGTCG	0.378000													9	44					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096706	53096706	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:53096706G>A	ENST00000341809.3	-	1	541	c.513C>T	c.(511-513)ctC>ctT	p.L171L	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	171	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						acttgttgttgagaaccataa	0.512000													40	81					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159833600	159833600	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:159833600C>T	ENST00000297151.4	-	12	1549	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	388					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAAGCAATTCAGCTGGAGGG	0.428000													21	7					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69970465	69970465	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:69970465G>A	ENST00000355303.5	+	9	1212	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	ANO1_ENST00000398543.2_Missense_Mutation_p.E187K|ANO1_ENST00000530676.1_Missense_Mutation_p.E187K|ANO1_ENST00000538023.1_Missense_Mutation_p.E303K|ANO1_ENST00000531349.1_Missense_Mutation_p.E38K|ANO1_ENST00000316296.5_Missense_Mutation_p.E275K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	303					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCTCCTGTACGAAGAGTGGGC	0.592000													3	29					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535006	71535006	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:71535006C>G	ENST00000355327.3	+	5	617	c.483C>G	c.(481-483)acC>acG	p.T161T	THSD4_ENST00000261862.6_Silent_p.T161T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	161	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGTGGTACCATTGGCCCTG	0.512000													54	169					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605292	54605292	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:54605292G>A	ENST00000371330.1	-	4	2098	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	417						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGCCAATGGAGAAGGAGCT	0.582000													19	12					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64444628	64444628	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:64444628G>C	ENST00000358025.3	+	13	1529	c.1299G>C	c.(1297-1299)ctG>ctC	p.L433L	SYNE2_ENST00000344113.4_Silent_p.L433L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L433L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	433					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGAGCCTGATGGATAGAT	0.348000													22	23					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454799	130454799	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:130454799G>C	ENST00000356763.3	-	3	1338	c.781C>G	c.(781-783)Ctc>Gtc	p.L261V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	261	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGTTGAGAGAGATCAAATAAT	0.323000													71	25					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723753	170723753	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:170723753C>T	ENST00000314251.3	-	6	833	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E133K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	252					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TTGACTTCCTCATCTAACTTG	0.423000													10	51					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113594	55113594	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:55113594C>G	ENST00000370862.3	+	2	717	c.381C>G	c.(379-381)tgC>tgG	p.C127W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	127					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTCCCTTTGCAAAGTGATTC	0.418000													6	107					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151280248	151280248	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:151280248G>T	ENST00000368875.2	-	5	1600	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	PI4KB_ENST00000368874.4_Missense_Mutation_p.F313L|PI4KB_ENST00000368872.1_Missense_Mutation_p.F313L|PI4KB_ENST00000271657.5_Missense_Mutation_p.F340L|PI4KB_ENST00000368873.1_Missense_Mutation_p.F328L|PI4KB_ENST00000529142.1_5'UTR	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	328				A -> V (in Ref. 3; AAC51156).	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACTTGATGAATTCTCTCT	0.522000													11	41					0.00010058	0.000103084	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152655199	152655199	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:152655199C>T	ENST00000367255.5	-	77	13339	c.12738G>A	c.(12736-12738)atG>atA	p.M4246I	SYNE1_ENST00000423061.1_Missense_Mutation_p.M4175I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M4246I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M4111I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M4175I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4246					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAACAACATTCATACAGTCAT	0.413000										HNSCC(10;0.0054)			77	11					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18278351	18278351	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:18278351C>T	ENST00000251900.4	-	9	1168	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	SCML2_ENST00000398048.3_Missense_Mutation_p.D73N	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	337					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ATGCCACGGTCTCTGGTCAGC	0.343000													65	5					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447374	101447374	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:101447374G>A	ENST00000329841.5	+	11	1814	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V321M	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	428					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TATCGAAGAAGTGATAAAAAG	0.433000													93	45					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65061699	65061699	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:65061699C>T	ENST00000265465.3	+	14	1851	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Silent_p.F232F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	440					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGCCGCCTTTCAGCTACTCCG	0.552000													157	101					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73459863	73459863	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:73459863G>C	ENST00000556143.1	-	4	1911	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.F397L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.F397L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	397						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCAGGGCTTTGAAGATGACTC	0.572000													26	32					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074713	1074713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:1074713C>A	ENST00000264930.5	-	16	2084	c.2041G>T	c.(2041-2043)Gag>Tag	p.E681*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	681					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACCGTGCTCCACGCGCAGC	0.647000													17	37					2.94398e-08	3.12087e-08	1	1	0
CCDC36	339834	broad.mit.edu	37	3	49249249	49249249	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:49249249C>T	ENST00000438782.1	+	2	272	c.36C>T	c.(34-36)ctC>ctT	p.L12L	CCDC36_ENST00000366429.2_Silent_p.L12L|CCDC36_ENST00000296449.5_Silent_p.L12L|CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000452691.2_Silent_p.L12L			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	12										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AAGAGATGCTCAGTATTCCTT	0.348000													42	34					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436443	19436443	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:19436443C>T	ENST00000538714.1	+	11	1529	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R267C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R509C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R401C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R509C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R509C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R515C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R509C|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.R509C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R401C	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	509							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGGCAGCAGCGTCAGTTTTA	0.483000													25	67					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4749142	4749142	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:4749142C>G	ENST00000304283.4	-	12	1614	c.1320G>C	c.(1318-1320)ctG>ctC	p.L440L	ANKS3_ENST00000585773.1_Silent_p.L367L|ANKS3_ENST00000446014.2_Silent_p.L311L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	440	SAM.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGGTACTTCAGACACCCGA	0.587000													11	31					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167088545	167088545	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:167088545C>T	ENST00000361200.2	+	5	663	c.497C>T	c.(496-498)gCt>gTt	p.A166V	DUSP27_ENST00000271385.5_Missense_Mutation_p.A166V|DUSP27_ENST00000443333.1_Missense_Mutation_p.A166V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	166					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATTCTGAATGCTGCGCATGGC	0.562000													22	9					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905990	164905990	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:164905990C>T	ENST00000475390.1	-	2	3072	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G877S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	877						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTACCACAGCCTCCCCCAGGA	0.567000										HNSCC(40;0.11)			29	38					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158204526	158204526	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:158204526G>T	ENST00000313708.6	-	10	1213	c.931C>A	c.(931-933)Cgt>Agt	p.R311S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.R303S|EBF1_ENST00000380654.4_Missense_Mutation_p.R280S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	311	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTGCACACGGATGGCATGA	0.458000			T	HMGA2	lipoma								20	5					3.62473e-10	3.8758e-10	1	1	0
PARP4	143	broad.mit.edu	37	13	25049672	25049672	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:25049672C>T	ENST00000381989.3	-	15	1957	c.1852G>A	c.(1852-1854)Ggg>Agg	p.G618R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	618	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACCAAGTTCCCAGAGGCATCC	0.448000													30	109					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877653	82877653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:82877653C>T	ENST00000298281.4	+	5	2166	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	572					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AACTACAAATCAGCATTCTAC	0.408000													21	23					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181182	68181182	+	Missense_Mutation	SNP	C	C	G	rs143204891	byFrequency	TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:68181182C>G	ENST00000294304.7	+	12	2635	c.2529C>G	c.(2527-2529)gaC>gaG	p.D843E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	843	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATTGCCGACGATCTCCCGC	0.617000													24	57					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129812216	129812216	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:129812216C>T	ENST00000281142.5	-	19	2409	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	SCLT1_ENST00000434680.1_Missense_Mutation_p.E255K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.E232K|SCLT1_ENST00000439369.2_Missense_Mutation_p.E123K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	636						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TATCTCACCTCAGCTACCTTT	0.418000													19	47					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884824	12884824	+	Silent	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:12884824C>A	ENST00000535591.1	-	4	1482	c.1287G>T	c.(1285-1287)ctG>ctT	p.L429L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	429										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GATCTGCCTCCAGGTCATAAA	0.468000													16	209					1.99824e-07	2.09137e-07	1	1	0
CCDC146	57639	broad.mit.edu	37	7	76797112	76797112	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:76797112G>C	ENST00000285871.4	+	2	254	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	43										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGATTTATCTGAAACTCCAGC	0.343000													8	61					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107475878	107475878	+	Missense_Mutation	SNP	G	G	A	rs118203956		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:107475878G>A	ENST00000369037.4	-	8	1422	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	PDSS2_ENST00000453874.2_Missense_Mutation_p.S280L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	382			S -> L (in coenzyme q10 deficiency).		isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCTGGCCTCCGAGGGAGGAAA	0.438000													36	1938					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138761139	138761139	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:138761139G>C	ENST00000242351.5	-	6	1906	c.1590C>G	c.(1588-1590)gtC>gtG	p.V530V	ZC3HAV1_ENST00000471652.1_Silent_p.V530V|ZC3HAV1_ENST00000464606.1_Silent_p.V652V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	530					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GATGGAAGTGGACTTTGCTGC	0.498000													13	45					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749433	139749433	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:139749433C>G	ENST00000445819.1	+	10	1118	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	MAMDC4_ENST00000317446.2_Silent_p.L356L|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	356	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGCTGCCTCCAGCTGTTCC	0.711000													33	3					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538122	52538122	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:52538122G>A	ENST00000594154.1	-	5	1022	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ZNF432_ENST00000221315.5_Silent_p.F270F			O94892	ZN432_HUMAN	zinc finger protein 432	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTTCATAGTGAAGACTTTTC	0.398000													61	98					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249144597	249144597	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:249144597C>G	ENST00000451251.1	-	12	1732	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	ZNF692_ENST00000306601.4_Missense_Mutation_p.E458Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.E413Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.E457Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.E413Q	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGCTTCTCAAAGCGCTTG	0.607000													25	44					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86669288	86669288	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:86669288G>C	ENST00000409556.1	+	3	483	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	KDM3A_ENST00000312912.5_Missense_Mutation_p.E40Q|KDM3A_ENST00000409064.1_Missense_Mutation_p.E40Q|KDM3A_ENST00000542128.1_Missense_Mutation_p.E40Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	40					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCGCGTCGCCGAGTGGCCCTG	0.642000													9	45					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602235	138602235	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:138602235G>A	ENST00000440172.1	-	2	2185	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R713C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R663C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	713	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCTCAGAACGGCTAGGTAGC	0.483000			O	BRAF	pilocytic astrocytoma								21	41					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18595438	18595438	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:18595438G>T	ENST00000399799.2	-	13	2304	c.1364C>A	c.(1363-1365)aCc>aAc	p.T455N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TATGTTTGAGGTTCTGTAAAA	0.294000													33	5					1.836e-18	2.01105e-18	1	1	0
ZNF710	374655	broad.mit.edu	37	15	90623042	90623042	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:90623042C>T	ENST00000268154.4	+	5	2227	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AAAGAGATGGCCTACTACAAT	0.632000													15	35					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802104	27802104	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:27802104C>G	ENST00000408964.2	+	1	2716	c.2665C>G	c.(2665-2667)Ctc>Gtc	p.L889V		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	889										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGAAAATATCTCTCCACTAT	0.463000													26	68					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42818496	42818496	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:42818496G>A	ENST00000598766.1	+	2	193	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Missense_Mutation_p.E65K			Q8NBT3	TM145_HUMAN	transmembrane protein 145	65						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCGCTACCCTGAGGTGAGTCT	0.592000													39	54					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841184	78841184	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:78841184C>G	ENST00000558341.1	+	6	385	c.340C>G	c.(340-342)Caa>Gaa	p.Q114E	PSMA4_ENST00000560217.1_Silent_p.L197L|PSMA4_ENST00000413382.2_Silent_p.L157L|PSMA4_ENST00000044462.7_Silent_p.L228L|PSMA4_ENST00000559082.1_Silent_p.L228L|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000558094.1_3'UTR			P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCAGAGTTCTCAAACAAAAAG	0.358000													50	17					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672000													20	31					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56333883	56333883	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:56333883C>T	ENST00000331886.5	+	10	1181	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.H243Y|DGKA_ENST00000551156.1_Missense_Mutation_p.H243Y	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	243					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTACACTGTTCACGACCAGTG	0.532000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	55					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151149308	151149308	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:151149308C>G	ENST00000354473.4	-	6	976	c.940G>C	c.(940-942)Gac>Cac	p.D314H	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	303					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAACAGGGTCCCGGTATAGG	0.552000													19	28					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744262	54744262	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:54744262G>A	ENST00000419410.2	-	6	1147	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	LILRA6_ENST00000245621.5_Silent_p.P382P|LILRA6_ENST00000396365.2_Silent_p.P382P|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGACTCATGGGGAATTCAG	0.562000													11	60					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90305673	90305673	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:90305673C>G	ENST00000369408.5	+	3	508	c.159C>G	c.(157-159)ggC>ggG	p.G53G	ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000447838.2_Silent_p.G53G|ANKRD6_ENST00000520793.1_Silent_p.G53G|ANKRD6_ENST00000522441.1_Silent_p.G53G|ANKRD6_ENST00000339746.4_Silent_p.G53G|ANKRD6_ENST00000485637.1_Silent_p.G53G	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	53							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CCAATAAGGGCCATCTTCCTG	0.512000													5	14					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402050	20402050	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:20402050G>A	ENST00000403076.1	-	4	719	c.491C>T	c.(490-492)tCg>tTg	p.S164L	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_3'UTR|SDC1_ENST00000254351.4_3'UTR			P18827	SDC1_HUMAN	syndecan 1	0					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ACCTCCCCACGAAACAAAGTG	0.502000													21	5					0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939809	125939809	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:125939809A>G	ENST00000297540.4	+	2	1339	c.644A>G	c.(643-645)tAt>tGt	p.Y215C		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	215	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GAAATGAACTATAAAGGTCGA	0.408000													13	28					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56669820	56669820	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:56669820G>C	ENST00000548567.1	-	8	1020	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	CS_ENST00000351328.3_Missense_Mutation_p.Q250E|CS_ENST00000542324.2_Missense_Mutation_p.Q237E			O75390	CISY_HUMAN	citrate synthase	250					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TCAGTGAACTGATGATCAGTA	0.483000													16	38					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15814749	15814749	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:15814749G>A	ENST00000452625.2	-	34	4846	c.4759C>T	c.(4759-4761)Ctc>Ttc	p.L1587F	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.L1587F|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.L1580F|MYH11_ENST00000300036.5_Missense_Mutation_p.L1580F	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1580					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGCTTGGAGATCCCTTTCG	0.627000			T	CBFB	AML								31	30					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000371060.3_Silent_p.I740I|LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000344610.8_Silent_p.I740I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.I740I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000													17	49					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228844	156228844	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:156228844C>T	ENST00000361813.5	-	16	2538	c.2394G>A	c.(2392-2394)caG>caA	p.Q798Q	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	798					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCTGCTCAGACTGGGCAATGC	0.602000													10	10					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11606809	11606809	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:11606809G>A	ENST00000293771.5	-	3	651	c.515C>T	c.(514-516)tCg>tTg	p.S172L	CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.R143C	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTTCAGGGGCGAATGCAGGTC	0.632000													9	17					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47103716	47103716	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:47103716C>T	ENST00000409792.3	-	14	6272	c.6230G>A	c.(6229-6231)cGa>cAa	p.R2077Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2077					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGAGCTTCTTCGTTTCCTTTT	0.458000			"""N, F, S, Mis"""		clear cell renal carcinoma								62	120					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381406	109381406	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:109381406G>T	ENST00000283195.6	+	20	4537	c.4411G>T	c.(4411-4413)Gat>Tat	p.D1471Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1471					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATTAACAGTGATTTCAGATC	0.383000													37	53					9.17885e-22	1.01213e-21	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228494710	228494710	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:228494710G>A	ENST00000570156.2	+	56	14980	c.14906G>A	c.(14905-14907)cGc>cAc	p.R4969H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1646H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4012H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1131H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4012H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4012	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGAGTGGCGCAAGGGCTCC	0.647000													9	14					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87108359	87108359	+	RNA	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:87108359G>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TCCCATGACAGAAATAAATTT	0.373000													19	9					2.35188e-11	2.52572e-11	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189548	58189548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:58189548C>T	ENST00000318203.5	+	5	1274	c.577C>T	c.(577-579)Caa>Taa	p.Q193*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	193					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGATGAACAAGATGGCTG	0.378000													12	46					0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022680	34022680	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:34022680G>A	ENST00000374375.1	+	2	1166	c.724G>A	c.(724-726)Gag>Aag	p.E242K	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron																cervix(1)|endometrium(4)|lung(4)	9						CCCGTCCAGAGAGCTTTCTTT	0.532000													4	12					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52727467	52727467	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:52727467C>G	ENST00000394799.2	+	12	1405	c.1195C>G	c.(1195-1197)Cct>Gct	p.P399A	GNL3_ENST00000418458.1_Missense_Mutation_p.P411A	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	411	Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATCTTGGACTCCTCCTCCATA	0.388000													74	64					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658089	142658089	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:142658089C>T	ENST00000355265.2	-	4	800	c.326G>A	c.(325-327)gGa>gAa	p.G109E	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	109					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTGGCCCTTCCACAGGCAAA	0.512000													48	31					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58774109	58774109	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:58774109G>A	ENST00000269829.4	+	7	2611	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	ZNF544_ENST00000599953.1_Missense_Mutation_p.E571K|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.E685K|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.E713K|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.E685K|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E685K	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACATACTGGAGAGAAACCTTA	0.498000													19	146					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537105	52537105	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:52537105C>T	ENST00000594154.1	-	5	2039	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	ZNF432_ENST00000221315.5_Silent_p.K609K			O94892	ZN432_HUMAN	zinc finger protein 432	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTAGACGGCTCTTCATAGTGA	0.398000													51	88					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37292101	37292101	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:37292101G>A	ENST00000233099.5	-	10	1461	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H456Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	456							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGCTTGGATGAAGCAGCACT	0.428000													13	31					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651035	11651035	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:11651035G>A	ENST00000262442.4	+	32	6630	c.6562G>A	c.(6562-6564)Gat>Aat	p.D2188N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2188N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (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)		AGTCACAAATGATGAGCTCTT	0.522000													16	36					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016353	106016353	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:106016353G>A	ENST00000255499.2	+	2	945	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	RNF128_ENST00000324342.3_Missense_Mutation_p.R206Q	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	232						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TATTCTGCTCGAAGGCTACGG	0.383000													24	21					0	0	1	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167232	33167232	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:33167232C>T	ENST00000334176.3	+	1	920	c.63C>T	c.(61-63)caC>caT	p.H21H		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	21					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGTGCTACCACCACCTGGTGC	0.711000													8	21					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	117					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791315	41791315	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:41791315G>A	ENST00000396930.3	-	18	4966	c.4423C>T	c.(4423-4425)Cat>Tat	p.H1475Y	KAT6A_ENST00000406337.1_Missense_Mutation_p.H1475Y|KAT6A_ENST00000265713.2_Missense_Mutation_p.H1475Y	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1475					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										TCTGACGCATGACAGTCTTCA	0.572000													16	54					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40777570	40777570	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:40777570G>C	ENST00000397128.2	-	2	254	c.246C>G	c.(244-246)ttC>ttG	p.F82L	PRKAA1_ENST00000296800.4_Missense_Mutation_p.F73L|PRKAA1_ENST00000354209.3_Missense_Mutation_p.F82L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	82	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GAGGATGCCTGAAAAGCTTGA	0.368000													21	32					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157539	32157539	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:32157539C>G	ENST00000375050.4	-	1	424	c.154G>C	c.(154-156)Gac>Cac	p.D52H		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	52							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCCCGATGTCTTGCTTCCCT	0.692000													6	32					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968463	4968463	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrY:4968463G>T	ENST00000333703.4	+	5	3324	c.2811G>T	c.(2809-2811)atG>atT	p.M937I	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.M948I|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.M948I	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCAAACAATGGGAAAGTACA	0.433000													4	1					0.000602214	0.000609619	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531462	140531462	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:140531462G>A	ENST00000231136.1	+	1	1624	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E406K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		542	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E542K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGAGCAGCGAGGCGCTGGT	0.687000													23	26					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938178	116938178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:116938178C>A	ENST00000229554.5	+	1	529	c.392C>A	c.(391-393)tCa>tAa	p.S131*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S131*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S131*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	131					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGAACAATCATCTGATAAA	0.522000									Kartagener syndrome				17	35					3.32936e-07	3.47717e-07	1	1	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517000		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)			24	4					9.86323e-18	1.07559e-17	1	1	0
ADH6	130	broad.mit.edu	37	4	100126140	100126140	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:100126140G>A	ENST00000394899.2	-	8	1138	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.H140Y|ADH6_ENST00000237653.7_Missense_Mutation_p.H349Y|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000506454.1_RNA	NM_001102470.1	NP_001095940	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	349					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTCAGAGTATGAGTAATTAGT	0.363000													25	52					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579092	33579092	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:33579092C>T	ENST00000228567.3	-	2	786	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	164						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACGTAGGCTCAGTAATTTGT	0.398000													109	62					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391571	18391571	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:18391571C>T	ENST00000252818.3	-	1	861	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	242					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GTCTGTGGCTCGTCCTTGAGC	0.741000													13	27					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133524709	133524709	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:133524709C>T	ENST00000466490.2	+	2	302	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	6						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TCCGCGGACTCGCGCCGGGTG	0.682000													17	72					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432910	31432910	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:31432910C>T	ENST00000261592.5	-	11	2110	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	NOL4_ENST00000535384.1_Missense_Mutation_p.E320K|NOL4_ENST00000269185.4_Missense_Mutation_p.E389K|NOL4_ENST00000589544.1_Missense_Mutation_p.E503K|NOL4_ENST00000538587.1_Missense_Mutation_p.E531K|NOL4_ENST00000535475.1_Missense_Mutation_p.E386K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	605						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCATTGATTTCAGTTGGACTC	0.453000													5	34					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90936812	90936812	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:90936812G>A	ENST00000451899.2	+	6	962	c.702G>A	c.(700-702)aaG>aaA	p.K234K	OSGIN2_ENST00000297438.2_Silent_p.K190K	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	190					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTCTTCAGAAGAATTTCAGAG	0.353000													26	128					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15781248	15781248	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:15781248C>T	ENST00000396355.1	+	6	1229	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	NDE1_ENST00000342673.5_Missense_Mutation_p.L135F|NDE1_ENST00000396353.2_Missense_Mutation_p.L135F|NDE1_ENST00000396354.1_Missense_Mutation_p.L135F	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	135	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GATCATGTCTCTCGAAGACTT	0.512000													38	28					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537446	27537446	+	RNA	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:27537446G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACAATTTAAAGAGATATGGAT	0.388000													60	147					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240104	237240104	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:237240104C>G	ENST00000409907.3	-	18	2545	c.2271G>C	c.(2269-2271)caG>caC	p.Q757H	IQCA1_ENST00000431676.2_Missense_Mutation_p.Q716H|IQCA1_ENST00000309507.5_Missense_Mutation_p.Q754H	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	757							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCCGGATTCTCTGATCTGTGA	0.483000													47	7					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62724217	62724217	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr20:62724217C>T	ENST00000349451.3	+	4	556	c.144C>T	c.(142-144)ctC>ctT	p.L48L	OPRL1_ENST00000355631.4_Silent_p.L48L|OPRL1_ENST00000336866.2_Silent_p.L48L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	48					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.L48L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCTGCCCCTCGGGCTCAAGG	0.652000													26	44					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945146	4945146	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:4945146A>G	ENST00000321961.2	-	1	491	c.424T>C	c.(424-426)Tgt>Cgt	p.C142R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGACAATACATGCAGGTGTC	0.522000													9	36					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	82					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65766619	65766619	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:65766619G>C	ENST00000341861.5	-	12	3092	c.1512C>G	c.(1510-1512)ttC>ttG	p.F504L	DPP8_ENST00000339244.5_Intron|DPP8_ENST00000321147.6_Missense_Mutation_p.F504L|DPP8_ENST00000300141.6_Missense_Mutation_p.F488L|DPP8_ENST00000321118.7_Missense_Mutation_p.F504L|DPP8_ENST00000559233.1_Missense_Mutation_p.F504L|DPP8_ENST00000358939.4_Missense_Mutation_p.F488L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	504					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGGACACTTGAAATCACCTG	0.323000													22	48					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765769	101765769	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:101765769T>C	ENST00000334289.3	-	8	1283	c.688A>G	c.(688-690)Att>Gtt	p.I230V		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	230	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATATAAAAAATCTTTTTCAGT	0.264000													15	26					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139838906	139838906	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:139838906C>G	ENST00000397560.2	-	2	376	c.279G>C	c.(277-279)ttG>ttC	p.L93F	JHDM1D_ENST00000006967.5_Splice_Site_p.L93F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		93					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGTACTTACTCAAGGAGGAAC	0.363000													28	82					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239667	135239667	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:135239667G>C	ENST00000265605.2	-	7	1418	c.1350C>G	c.(1348-1350)atC>atG	p.I450M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.I396M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I400M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	450					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCAGCTCCCTGATGAGCCAGC	0.562000													30	12					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42381454	42381454	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:42381454G>A	ENST00000221972.3	+	1	264		c.e1+1		CD79A_ENST00000444740.2_Splice_Site	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha						B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCTACCTGGGTATGTGGCCA	0.617000			"""O, S"""		DLBCL								6	38					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44152234	44152234	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:44152234C>G	ENST00000260665.7	-	27	2925	c.2868G>C	c.(2866-2868)caG>caC	p.Q956H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	956					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTAGTACATCTGGTCTCTAT	0.353000													66	79					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35282487	35282487	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:35282487G>A	ENST00000278379.3	-	11	1961	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	SLC1A2_ENST00000395753.1_Missense_Mutation_p.S551L|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S551L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	560					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GCAGTCGGCTGACTTTCCATT	0.433000													20	53					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572488	53572488	+	Silent	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:53572488G>T	ENST00000601421.1	-	3	2067	c.1191C>A	c.(1189-1191)gtC>gtA	p.V397V	ZNF160_ENST00000599056.1_Silent_p.V433V|ZNF160_ENST00000429604.1_Silent_p.V433V|ZNF160_ENST00000418871.1_Silent_p.V433V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	433					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V433V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGTACCTAAAGACTTTGCCAC	0.418000													6	132					0.00116845	0.00117798	1	1	0
MGA	23269	broad.mit.edu	37	15	41988408	41988408	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:41988408C>T	ENST00000219905.7	+	3	1381	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V	MGA_ENST00000389936.4_Silent_p.V400V|MGA_ENST00000545763.1_Silent_p.V400V|MGA_ENST00000570161.1_Silent_p.V400V|MGA_ENST00000566586.1_Silent_p.V400V|MGA_ENST00000568630.1_3'UTR	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	400						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)		CAGAAGGGGTCACTGTGAAAC	0.423000													23	15					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56329864	56329864	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:56329864C>T	ENST00000309964.4	-	8	797	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	CLOCK_ENST00000513440.1_Missense_Mutation_p.E183K|CLOCK_ENST00000381322.1_Missense_Mutation_p.E183K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	183					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTTAAATATTCTGGGGTTAAT	0.313000													19	15					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18278394	18278394	+	Silent	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:18278394C>A	ENST00000251900.4	-	9	1125	c.966G>T	c.(964-966)gtG>gtT	p.V322V	SCML2_ENST00000398048.3_Silent_p.V58V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	322					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TAGAACATATCACGGGCAAAG	0.338000													56	5					2.47907e-22	2.74587e-22	1	1	0
SNX6	58533	broad.mit.edu	37	14	35074854	35074854	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:35074854C>T	ENST00000362031.4	-	5	406	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	114	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ATTGACCCTTCTCCTTCACCA	0.373000													46	13					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738146	19738146	+	Silent	SNP	G	G	A	rs146699251		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:19738146G>A	ENST00000222567.5	-	4	880	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	270	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CCTCCTCCCAGATGCCATTCG	0.468000													299	296					0	0	1	0	0
MIR518C	574477	broad.mit.edu	37	19	54212032	54212032	+	RNA	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:54212032C>G	ENST00000384822.1	+	0	44					NR_030199.1																						GAAGCACTTTCTGTTGTCTGA	0.428000													38	39					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29632186	29632186	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:29632186G>C	ENST00000330927.4	-	2	596	c.442C>G	c.(442-444)Caa>Gaa	p.Q148E	NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.Q148E|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.Q163E	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	148						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.Q148K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GATGATTGTTGAGTAAAAGTA	0.433000													60	224					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43541306	43541306	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:43541306G>A	ENST00000265351.7	-	2	348	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	46	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGGGGACACAGATAGGACACT	0.428000													40	27					0	0	1	0	0
SCD	6319	broad.mit.edu	37	10	102116313	102116313	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:102116313G>A	ENST00000370355.2	+	5	1053	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	224			M -> L (in dbSNP:rs2234970).		fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCTTGCTGATGATGTGCTTCA	0.498000													38	4					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380651	114380651	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:114380651C>T	ENST00000359785.5	-	13	1506	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	PTPN22_ENST00000538253.1_Silent_p.Q213Q|PTPN22_ENST00000525799.1_Silent_p.Q330Q|PTPN22_ENST00000420377.2_Silent_p.Q457Q|PTPN22_ENST00000528414.1_Silent_p.Q402Q|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	457					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TGGTTTCTCTCTGCTGTATCA	0.373000													64	36					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403579	69403579	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:69403579G>C	ENST00000317746.2	-	6	1399	c.1357C>G	c.(1357-1359)Caa>Gaa	p.Q453E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	453					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTCACCGGTTGATCATGATGA	0.398000													51	81					0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30658707	30658707	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:30658707G>A	ENST00000259953.4	-	2	396	c.45C>T	c.(43-45)ttC>ttT	p.F15F	NRM_ENST00000376421.5_Silent_p.F15F|NRM_ENST00000376420.5_Silent_p.F15F|NRM_ENST00000470733.1_5'UTR	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	15						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						AGGCCAGGATGAAAGAGGCGA	0.657000													12	12					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577631	14577631	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:14577631C>G	ENST00000544627.1	+	2	1126	c.806C>G	c.(805-807)tCt>tGt	p.S269C	ATF7IP_ENST00000543189.1_Missense_Mutation_p.S261C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S261C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S261C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S261C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	261					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATCTATCCTCTAGTGAACTG	0.478000													82	43					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60639880	60639880	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr18:60639880G>C	ENST00000400316.4	+	15	3939	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	PHLPP1_ENST00000262719.5_Missense_Mutation_p.E1232Q	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1232					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTTGGCTGAAGAGCTGCAAAA	0.453000													24	3					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155465	58155465	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:58155465C>T	ENST00000295956.4	+	45	7731	c.7566C>T	c.(7564-7566)ctC>ctT	p.L2522L	FLNB_ENST00000490882.1_Silent_p.L2553L|FLNB_ENST00000429972.2_Silent_p.L2511L|FLNB_ENST00000419752.2_Silent_p.L2342L|FLNB_ENST00000358537.3_Silent_p.L2498L|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.L2481L|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Silent_p.L2329L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2522	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGCAGGGCTCTCAAAGGCCT	0.602000													26	38					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118627710	118627710	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:118627710C>T	ENST00000392533.3	-	14	1721	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	TAOK3_ENST00000537952.1_5'UTR|TAOK3_ENST00000419821.2_Missense_Mutation_p.D411N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	411					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.D411N(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTGGGATCGCCGTGGCCC	0.562000													39	76					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796243	42796243	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:42796243C>T	ENST00000572681.2	+	13	5687	c.5619C>T	c.(5617-5619)atC>atT	p.I1873I	CIC_ENST00000160740.3_Silent_p.I964I|CIC_ENST00000575354.2_Silent_p.I964I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACAGATCATCCAGCTGACCC	0.637000			"""Mis, F, S"""		oligodendroglioma								30	55					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274755	29274755	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:29274755C>G	ENST00000377160.2	+	1	353	c.289C>G	c.(289-291)Ctt>Gtt	p.L97V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCAGTGCATTCTTCAGGTTTT	0.458000													34	44					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145438911	145438911	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:145438911G>A	ENST00000369317.4	+	1	443	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	37					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGTGTGTGAAGTTACTCG	0.522000													20	26					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253781	36253781	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:36253781C>G	ENST00000296604.3	-	12	1620	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	RANBP3L_ENST00000502994.1_Missense_Mutation_p.E404Q	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	379	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTATAGTCTTCTAAATCAGTA	0.343000													12	14					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595966	48595966	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:48595966G>C	ENST00000262384.3	-	2	824	c.588C>G	c.(586-588)ctC>ctG	p.L196L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	196					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGTTTCAAAGAGATTCTCCT	0.383000													11	26					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509783	171509783	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:171509783C>T	ENST00000367742.3	+	16	3420	c.3178C>T	c.(3178-3180)Ctt>Ttt	p.L1060F	PRRC2C_ENST00000426496.2_Missense_Mutation_p.L1058F|PRRC2C_ENST00000338920.4_Missense_Mutation_p.L1058F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.L1060F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1058	Pro-rich.						protein C-terminus binding										AAAGAAGGATCTTCCTCCTCC	0.478000													122	43					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17292551	17292551	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:17292551G>C	ENST00000375541.5	+	29	4702	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1545					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GATGGAGGCTGAGAGGGACAG	0.627000													17	7					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97198175	97198175	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:97198175G>C	ENST00000389672.5	+	9	2079	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	EPHA6_ENST00000502694.1_Missense_Mutation_p.E73Q|EPHA6_ENST00000442602.2_Missense_Mutation_p.E47Q|EPHA6_ENST00000514100.1_Missense_Mutation_p.E73Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	586	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAGTCAGAAGAGAAGAGAAG	0.343000													7	9					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49837206	49837206	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chrX:49837206C>T	ENST00000376088.3	+	6	1019	c.378C>T	c.(376-378)tcC>tcT	p.S126S	CLCN5_ENST00000376091.3_Silent_p.S126S|CLCN5_ENST00000376108.3_Silent_p.S56S|CLCN5_ENST00000307367.2_Silent_p.S56S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	56					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGCTTTTTCCGGCTGGTTGT	0.388000													7	54					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33390834	33390834	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:33390834G>A	ENST00000305768.5	-	16	1892	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTACTGATGAGCAGACATT	0.418000													35	36					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260523	123260523	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:123260523G>C	ENST00000264501.4	+	72	12685	c.12312G>C	c.(12310-12312)caG>caC	p.Q4104H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q4104H			Q2LD37	K1109_HUMAN	KIAA1109	4104					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCTACTCAGAGTGGAACAA	0.383000													16	44					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	168004389	168004389	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:168004389C>A	ENST00000357154.3	-	3	335	c.198G>T	c.(196-198)gaG>gaT	p.E66D	SPOCK3_ENST00000511531.1_Intron|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000502330.1_Intron|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000507137.1_Intron|SPOCK3_ENST00000421836.2_Intron|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000512648.1_Intron|SPOCK3_ENST00000357545.4_Intron|SPOCK3_ENST00000506886.1_Splice_Site_p.E66D|SPOCK3_ENST00000504953.1_Intron|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511269.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	66					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaagcaaacctctacttcct	0.473000													43	133					4.18559e-23	4.64647e-23	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164393911	164393911	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:164393911C>T	ENST00000280605.3	-	1	1136	c.976G>A	c.(976-978)Ggt>Agt	p.G326S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	326						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				agagccaaaccatatgttttc	0.428000													38	67					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41990549	41990549	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:41990549C>T	ENST00000372584.1	-	5	6254	c.5240G>A	c.(5239-5241)cGa>cAa	p.R1747Q	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1747Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1747Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1747Q|HIVEP3_ENST00000460604.1_Intron	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1747					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCGCGGCCTCGCACATATAC	0.502000													13	35					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137759824	137759824	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:137759824G>A	ENST00000314358.5	+	16	4233	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E377K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E1001K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1345					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCAGTGGTAGAAAATAAGAA	0.488000													32	41					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850059	98850059	+	RNA	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:98850059G>A	ENST00000554295.1	-	0	864					NR_033801.1																						TCTCCAAACAGAAGTACATAA	0.428000													13	6					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9484712	9484712	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:9484712A>T	ENST00000281419.3	+	10	1241	c.901A>T	c.(901-903)Aac>Tac	p.N301Y	ASAP2_ENST00000315273.4_Missense_Mutation_p.N301Y	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	301					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCTCAGGGAAACAAGGAACA	0.463000													12	47					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132070134	132070134	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:132070134C>A	ENST00000378746.4	-	2	261	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	KIF3A_ENST00000403231.1_Missense_Mutation_p.V15L|KIF3A_ENST00000378735.1_Missense_Mutation_p.V15L	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	15	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAACCTTCACATTATCGCAG	0.383000													23	43					3.83957e-06	3.96809e-06	1	1	0
TOR3A	64222	broad.mit.edu	37	1	179063289	179063289	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:179063289C>T	ENST00000367627.3	+	5	1632	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	TOR3A_ENST00000352445.6_Missense_Mutation_p.R294W	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	294					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGGATGGTCCCGGGAAGAAAT	0.478000													6	48					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996943	31996943	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:31996943G>T	ENST00000435363.2	+	28	3588		c.e28-1		C4B_ENST00000425700.2_Splice_Site	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)						complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTTTCTTCCAGGAAGCCTCCA	0.602000													38	15					5.90137e-08	6.22923e-08	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49426355	49426355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:49426355G>A	ENST00000301067.7	-	39	12132	c.12133C>T	c.(12133-12135)Cag>Tag	p.Q4045*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCCCTCCCTGATGTGTAGAG	0.582000													9	8					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710720	77710720	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:77710720C>G	ENST00000298351.4	+	16	1514	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	457						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTTCCCCTCTGTGATGCTC	0.587000													83	105					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749628	22749628	+	RNA	SNP	T	T	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:22749628T>A	ENST00000511446.2	+	0	1000				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGCGGAAATTGAATTTTTTC	0.373000													4	13					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038898	37038898	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:37038898C>T	ENST00000334116.7	-	6	857	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ZNF529_ENST00000591340.1_Missense_Mutation_p.E188K	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	155	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTCTGATATTCATCAAACTCT	0.348000													10	16					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40502383	40502383	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:40502383G>C	ENST00000287598.6	+	18	2552	c.2357G>C	c.(2356-2358)aGa>aCa	p.R786T	BUB1B_ENST00000412359.3_Missense_Mutation_p.R800T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	786	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGGCGCCAAGAAACTCTGCA	0.338000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	23					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121097708	121097708	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:121097708G>A	ENST00000453000.1	+	2	1002	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CABP1_ENST00000288616.3_Missense_Mutation_p.E85K|CABP1_ENST00000351200.2_Missense_Mutation_p.E25K|CABP1_ENST00000316803.3_Missense_Mutation_p.E228K			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	228	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGGAAATTGAAGGTAAAAC	0.532000													9	28					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111737291	111737291	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:111737291G>C	ENST00000357640.4	-	7	932	c.703C>G	c.(703-705)Cta>Gta	p.L235V	DENND2D_ENST00000369752.5_Missense_Mutation_p.L232V	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	235	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGTGCAATAGAGAACTAAAA	0.488000													19	40					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741706	140741706	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:140741706G>C	ENST00000522605.1	+	1	2004	c.2004G>C	c.(2002-2004)ctG>ctC	p.L668L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGCCTGCAAGAGGTAT	0.642000													3	51					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153684	4153684	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:4153684C>G	ENST00000404826.2	+	25	3740	c.3601C>G	c.(3601-3603)Cag>Gag	p.Q1201E	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1201E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1201	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCGGATTCTCAGTACAACGG	0.602000													18	44					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773523	229773523	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:229773523C>T	ENST00000258243.2	+	4	3299	c.3163C>T	c.(3163-3165)Ctc>Ttc	p.L1055F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1055						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGCAGGCAGCTCCTTCTGGT	0.507000													64	29					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821051	192821051	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:192821051C>T	ENST00000392314.1	-	8	1190	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.E267K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	267	EGF-like.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTGTAATGTTCCGGACAAGGT	0.403000													118	25					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762215	30762215	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:30762215C>A	ENST00000405659.1	+	3	935	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	CCDC157_ENST00000338306.3_Missense_Mutation_p.L76M|CCDC157_ENST00000399824.2_Missense_Mutation_p.L76M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	76										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCATGCCGTGCTGCTGGAGCT	0.632000													37	68					3.09479e-21	3.39739e-21	1	1	0
POLQ	10721	broad.mit.edu	37	3	121207489	121207489	+	Nonsense_Mutation	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:121207489A>T	ENST00000264233.5	-	16	4417	c.4289T>A	c.(4288-4290)tTa>tAa	p.L1430*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1430					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)		ATTCTTTTTTAAAAAAAGACC	0.338000								DNA polymerases (catalytic subunits)					49	21					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274131	39274131	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:39274131C>T	ENST00000391413.2	-	1	475	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	146	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaagaggggcggcagcagct	0.652000													9	13					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38819421	38819421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:38819421G>T	ENST00000359357.3	+	37	5040	c.4786G>T	c.(4786-4788)Gga>Tga	p.G1596*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.G1813*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.G1596*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAAATTCTTGGACAAGCCAG	0.368000													6	34					0.00116845	0.00117798	1	1	0
RANGAP1	5905	broad.mit.edu	37	22	41677018	41677018	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr22:41677018C>T	ENST00000455915.2	-	1	1500	c.31G>A	c.(31-33)Gag>Aag	p.E11K	RANGAP1_ENST00000405486.1_Missense_Mutation_p.E11K|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E11K			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	11					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAAGTGTCTCTGCCAGCTTG	0.532000													30	80					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183717855	183717855	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:183717855C>T	ENST00000511685.1	+	27	7402	c.7279C>T	c.(7279-7281)Ccc>Tcc	p.P2427S	TENM3_ENST00000406950.2_Missense_Mutation_p.P2427S					teneurin transmembrane protein 3																		ATTCCCTGTTCCCAAATTTGA	0.413000													9	18					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74276468	74276468	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:74276468C>T	ENST00000316900.5	-	7	1131	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	STOML1_ENST00000541638.1_Missense_Mutation_p.R293Q|STOML1_ENST00000561656.1_Missense_Mutation_p.R248Q|STOML1_ENST00000359750.4_Missense_Mutation_p.R265Q|STOML1_ENST00000564777.1_Missense_Mutation_p.R285Q|STOML1_ENST00000316911.6_Missense_Mutation_p.R286Q	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	336	SCP2.					integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CACTCTTCCTCGTCCTGTGGG	0.607000													13	22					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056330	26056330	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:26056330C>G	ENST00000343677.2	-	1	369	c.327G>C	c.(325-327)aaG>aaC	p.K109N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.K109N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGGCTGCCTTCTTGTTGAGTT	0.557000													49	64					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795689	17795689	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr9:17795689C>T	ENST00000380607.4	+	9	1127	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	SH3GL2_ENST00000537391.1_Missense_Mutation_p.S289L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	336	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CATGGCCATTCAGGCTTCTTC	0.483000													19	78					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095202	130095202	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:130095202G>T	ENST00000265379.6	+	3	684	c.190G>T	c.(190-192)Gcc>Tcc	p.A64S	COL6A5_ENST00000432398.2_Missense_Mutation_p.A64S			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	64	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCCCATAGAGGCCAACAAATA	0.502000													5	54					1.024e-07	1.07858e-07	1	1	0
SCD	6319	broad.mit.edu	37	10	102116493	102116493	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr10:102116493G>A	ENST00000370355.2	+	5	1233	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	284					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.E284E(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCCCCGGGAGAATATCCTGG	0.502000													21	1					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138227279	138227279	+	Splice_Site	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:138227279A>G	ENST00000264982.3	-	12	1317		c.e12+1		CEP70_ENST00000542237.1_Splice_Site|CEP70_ENST00000489254.1_Splice_Site|CEP70_ENST00000484888.1_Splice_Site|CEP70_ENST00000481834.1_Splice_Site	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCAATTCAATACCTGAAAGTA	0.363000													36	146					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139708	71139708	+	Silent	SNP	C	C	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr12:71139708C>A	ENST00000283228.2	-	6	1349	c.897G>T	c.(895-897)ctG>ctT	p.L299L	PTPRR_ENST00000378778.1_Silent_p.L93L|PTPRR_ENST00000549308.1_Silent_p.L54L|PTPRR_ENST00000440835.2_Silent_p.L54L|PTPRR_ENST00000342084.4_Silent_p.L187L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	299					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGACAACATTCAGTACCTTTG	0.542000													18	52					2.94398e-08	3.12087e-08	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90755177	90755177	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:90755177G>A	ENST00000354366.3	-	11	2774	c.2542C>T	c.(2542-2544)Cac>Tac	p.H848Y	NRDE2_ENST00000357904.3_Missense_Mutation_p.H617Y	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GTTAATATGTGAACAGCTCGA	0.537000													12	25					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605747	58605747	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:58605747C>T	ENST00000287275.1	-	3	563	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	GLYATL2_ENST00000532258.1_Missense_Mutation_p.R58Q|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	58						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTCTGAGGCCGGGTAATGAC	0.463000													10	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455699	179455699	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:179455699C>G	ENST00000589042.1	-	304	60977	c.60753G>C	c.(60751-60753)aaG>aaC	p.K20251N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K11378N|TTN_ENST00000591111.1_Missense_Mutation_p.K18610N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K11311N|TTN_ENST00000460472.2_Missense_Mutation_p.K11186N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K17683N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18610	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACACCTATCTTATTCTCTG	0.468000													53	339					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81572111	81572111	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:81572111G>C	ENST00000394660.2	+	8	1437	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	IL16_ENST00000302987.4_Missense_Mutation_p.Q359H	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	359	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTCTCTGCAGAAAGGTAGGA	0.577000													4	11					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912068	53912068	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:53912068C>G	ENST00000396408.3	+	4	1377	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GCAAGACCTTCAATCAGCAGT	0.383000													29	49					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33686940	33686940	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr13:33686940G>C	ENST00000336934.5	-	9	2526	c.2410C>G	c.(2410-2412)Cag>Gag	p.Q804E	STARD13_ENST00000399365.3_Missense_Mutation_p.Q686E|STARD13_ENST00000255486.4_Missense_Mutation_p.Q796E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	804	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCGTCATCTGATTCTCTTCC	0.517000													47	64					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135263632	135263632	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:135263632G>T	ENST00000285968.6	+	7	1037	c.1011G>T	c.(1009-1011)ttG>ttT	p.L337F	NUP205_ENST00000440390.2_Missense_Mutation_p.L131F	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	337					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L337L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGCTGGCATTGAGGGGAATAT	0.448000													20	49					2.70639e-06	2.80285e-06	1	1	0
SLC5A5	6528	broad.mit.edu	37	19	17988632	17988632	+	Missense_Mutation	SNP	C	C	A	rs121909176		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:17988632C>A	ENST00000222248.3	+	6	1146	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	267			Q -> E (in TDH1).		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCGCAGGTGCAGCGCTACGT	0.607000													34	21					3.76114e-14	4.06565e-14	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13419017	13419017	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:13419017C>T	ENST00000360228.5	-	14	1829	c.1830G>A	c.(1828-1830)atG>atA	p.M610I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M611I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	611					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGATGGACTTCATGGAGTTGA	0.572000													9	22					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52147488	52147488	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:52147488G>C	ENST00000596288.1	-	3	525	c.498C>G	c.(496-498)ctC>ctG	p.L166L	MCM3_ENST00000229854.7_Silent_p.L121L|MCM3_ENST00000419835.2_Silent_p.L75L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	121					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCACACAGCTGAGGAAGCAGG	0.527000													32	43					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239742	135239742	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:135239742G>A	ENST00000265605.2	-	7	1343	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	ALDH8A1_ENST00000367845.2_Silent_p.S371S|ALDH8A1_ENST00000367847.2_Silent_p.S375S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	425					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCACATTGCTGGACCACACGG	0.562000													29	13					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258567	19258567	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:19258567C>T	ENST00000602424.2	-	6	1059	c.333G>A	c.(331-333)gaG>gaA	p.E111E	MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.E128E|MEF2B_ENST00000424583.2_Silent_p.E111E|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Silent_p.E111E|MEF2B_ENST00000162023.5_Silent_p.E111E|MEF2B_ENST00000409224.1_Silent_p.E114E|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.E111E|MEF2B_ENST00000409447.2_Silent_p.E111E	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCCGAAACTTCTCTCCTGGCT	0.627000													21	12					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6746473	6746473	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:6746473G>C	ENST00000230859.6	+	7	771	c.642G>C	c.(640-642)gaG>gaC	p.E214D		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	214	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAAAGAGGAGATCATGAAAG	0.473000													7	49					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31937352	31937352	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:31937352C>G	ENST00000375394.2	+	28	3714	c.3601C>G	c.(3601-3603)Cag>Gag	p.Q1201E	SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q1008E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1201						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCGCTGCATTCAGCGCCTGGC	0.647000													25	33					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016708	1016708	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:1016708C>G	ENST00000421673.2	-	31	6143	c.6093G>C	c.(6091-6093)caG>caC	p.Q2031H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2031	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTGGCCATCTGTGTGTGGG	0.562000													46	252					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185320077	185320077	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr4:185320077G>A	ENST00000393593.3	-	7	893	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	229					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ACCTGCATAGGAAGACACGGG	0.627000													20	34					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15098117	15098117	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:15098117G>A	ENST00000396410.4	+	5	413	c.316G>A	c.(316-318)Gac>Aac	p.D106N	PDXDC1_ENST00000535621.2_Missense_Mutation_p.D106N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D78N|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D124N|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D79N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.D91N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D106N	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	106					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTCAACTCTGGACAAAGAGAA	0.363000													12	207					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48205453	48205453	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:48205453C>T	ENST00000396720.3	+	15	4658	c.4464C>T	c.(4462-4464)tcC>tcT	p.S1488S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1488							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCAGCTTCTCCAGCGACAGCC	0.736000													21	14					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832114	44832114	+	Silent	SNP	A	A	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:44832114A>T	ENST00000354340.4	-	4	2247	c.2196T>A	c.(2194-2196)ggT>ggA	p.G732G	ZNF112_ENST00000536500.1_Silent_p.G755G|ZNF112_ENST00000337401.4_Silent_p.G738G	NM_013380.3	NP_037512.3			zinc finger protein 112																		CTCTCTGATGACCTTGAAGAT	0.458000													39	77					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50785767	50785767	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:50785767G>A	ENST00000540145.1	+	5	1172	c.757G>A	c.(757-759)Gat>Aat	p.D253N	CYLD_ENST00000427738.3_Missense_Mutation_p.D253N|CYLD_ENST00000566206.1_Missense_Mutation_p.D253N|CYLD_ENST00000569418.1_Missense_Mutation_p.D253N|CYLD_ENST00000311559.9_Missense_Mutation_p.D253N|CYLD_ENST00000398568.2_Missense_Mutation_p.D253N|CYLD_ENST00000564326.1_Missense_Mutation_p.D253N|CYLD_ENST00000568704.2_Missense_Mutation_p.D253N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	253	CAP-GLY 2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATATTCTGTGATGTTTTGCC	0.338000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				12	20					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453330	195453330	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:195453330G>A	ENST00000320736.6	+	3	1469	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	MUC20_ENST00000436408.1_Missense_Mutation_p.R619Q|MUC20_ENST00000447234.2_Missense_Mutation_p.R619Q|MUC20_ENST00000445522.2_Missense_Mutation_p.R584Q			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	619					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AACAGCAGCCGAGGGACGAAC	0.617000													25	81					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63971054	63971054	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:63971054A>G	ENST00000358794.5	+	13	2213	c.1660A>G	c.(1660-1662)Atc>Gtc	p.I554V	STIP1_ENST00000538945.1_Missense_Mutation_p.I483V|STIP1_ENST00000305218.4_Missense_Mutation_p.I507V	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	507					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CATGCGCCTTATCCTGGAACA	0.587000													3	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605000	179605000	+	Silent	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:179605000G>A	ENST00000589042.1	-	48	13184	c.12960C>T	c.(12958-12960)gtC>gtT	p.V4320V	TTN_ENST00000342175.6_Silent_p.V4149V|TTN_ENST00000591111.1_Silent_p.V4003V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V4082V|TTN_ENST00000460472.2_Silent_p.V3957V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4003	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAATTCTGACCGCAGAAT	0.458000													155	39					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295891	20295891	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr14:20295891G>C	ENST00000315947.1	+	1	284	c.284G>C	c.(283-285)aGa>aCa	p.R95T	OR4N2_ENST00000568211.1_Missense_Mutation_p.R95T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTACAGAGGCTGCATC	0.527000													23	168					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511421	58511421	+	RNA	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:58511421C>T	ENST00000588627.1	-	0	1936																											TCCTCAGGCCCTTCCAGTCAC	0.567000													8	29					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11944391	11944391	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr11:11944391G>C	ENST00000339865.5	+	10	1898	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	USP47_ENST00000527733.1_Missense_Mutation_p.E447Q|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.E467Q	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	467					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATCTGTCTTGAAACCAATAG	0.368000													19	26					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757110	71757110	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr5:71757110C>T	ENST00000318442.5	-	2	704	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTGCTCCTTCGAAGACCCCG	0.572000													35	49					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100908	85100908	+	Silent	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr16:85100908C>T	ENST00000566428.1	+	2	862	c.231C>T	c.(229-231)tcC>tcT	p.S77S	KIAA0513_ENST00000538274.1_Silent_p.S77S|KIAA0513_ENST00000258180.3_Silent_p.S77S|KIAA0513_ENST00000567328.1_Silent_p.S77S			O60268	K0513_HUMAN	KIAA0513	77						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCAACGAGTCCTTCTCCTCCA	0.592000													15	29					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97664031	97664031	+	Silent	SNP	G	G	C			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:97664031G>C	ENST00000333396.7	-	10	1977	c.1395C>G	c.(1393-1395)gtC>gtG	p.V465V	MINA_ENST00000394198.2_Silent_p.V465V|MINA_ENST00000360258.4_Silent_p.V464V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						AAAGGCACTAGACTACTTGAA	0.378000													49	47					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102255153	102255153	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr15:102255153C>T	ENST00000335968.3	-	4	796	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	194					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCGTGCTTTCAGCCAGTTCC	0.403000													24	144					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47653554	47653554	+	Silent	SNP	C	C	G			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr19:47653554C>G	ENST00000413379.3	+	3	408	c.306C>G	c.(304-306)ctC>ctG	p.L102L	SAE1_ENST00000598840.1_Silent_p.L102L|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000270225.7_Silent_p.L102L|SAE1_ENST00000392776.3_Silent_p.L102L	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	102					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGAATCTCAACCCCATGG	0.453000													63	51					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239743	135239743	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:135239743G>A	ENST00000265605.2	-	7	1342	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.S371F|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.S375F	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	425					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACATTGCTGGACCACACGGT	0.557000													30	13					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)gagdel	p.E348del	DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655													2	4	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20145699	20145701	+	In_Frame_Del	DEL	CTC	CTC	-	rs140043741		TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr2:20145699_20145701delCTC	ENST00000345530.3	-	17	1839_1841	c.1724_1726delGAG	c.(1723-1728)cgagta>cta	p.575_576RV>L	WDR35_ENST00000416055.2_In_Frame_Del_p.140_141RV>L|WDR35_ENST00000281405.4_In_Frame_Del_p.564_565RV>L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	575										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCGTTACTCGAGCATCCAA	0.384													134	66	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125635529	125635529	+	RNA	DEL	G	G	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr3:125635529delG	ENST00000485843.1	+	0	57					NR_024251.1																						GCCGCTTTCTGGCGGCGCGCG	0.731													2	4	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651944	36651944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr6:36651944delC	ENST00000405375.1	+	2	301	c.66delC	c.(64-66)ttcfs	p.F22fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.F56fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.F22fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.F22fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	22	Required for binding cyclins.				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCCGCCTCTTCGGCCCAGTGG	0.642													15	17	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149511970	149511971	+	RNA	INS	-	-	GCCCT	rs150373838	by1000genomes	TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:149511970_149511971insGCCCT	ENST00000378016.2	+	0	10520_10521							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)			GAGGGAGGGAGGCCCTGCCCTG	0.683													3	4	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151860019	151860019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr7:151860019delG	ENST00000355193.2	-	43	10861	c.10643delC	c.(10642-10644)ccafs	p.P3548fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P3548fs					lysine (K)-specific methyltransferase 2C																		AGGCCTCACTGGGGACTGCTG	0.478													21	7	---	---	---	---					
GNRH1	2796	broad.mit.edu	37	8	25279160	25279160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:25279160delC	ENST00000276414.4	-	2	1489	c.166delG	c.(166-168)gcafs	p.A56fs	GNRH1_ENST00000421054.2_Frame_Shift_Del_p.A56fs	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	56					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TGGGTTTCTGCCAGTTGACCA	0.433													2	4	---	---	---	---					
COL14A1	7373	broad.mit.edu	37	8	121180411	121180411	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr8:121180411delG	ENST00000297848.3	+	5	631	c.361delG	c.(361-363)gaafs	p.E121fs	COL14A1_ENST00000247781.3_Frame_Shift_Del_p.E121fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.E121fs|COL14A1_ENST00000537875.1_Frame_Shift_Del_p.E121fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	121					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAAGATTTAGAAAAAAGAAA	0.358													26	125	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3977641	3977651	+	Splice_Site	DEL	ACTTTCTAGAG	ACTTTCTAGAG	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:3977641_3977651delACTTTCTAGAG	ENST00000381638.2	-	24	3608_3612	c.3484_3488delCTCTAGAAAGT	c.(3484-3489)ctctag>g	p.L*1162fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1162							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						CTTGAAGGTCACTTTCTAGAGACAAACAGAA	0.469											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	53	---	---	---	---					
SEZ6	124925	broad.mit.edu	37	17	27287849	27287851	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:27287849_27287851delCTT	ENST00000317338.12	-	6	1809_1811	c.1381_1383delAAG	c.(1381-1383)aagdel	p.K461del	SEZ6_ENST00000335960.6_In_Frame_Del_p.K461del|SEZ6_ENST00000442608.3_In_Frame_Del_p.K461del|SEZ6_ENST00000360295.9_In_Frame_Del_p.K461del|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	461	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCAGGGAAACCTTCTCAAAGTGC	0.596													27	164	---	---	---	---					
ST6GALNAC1	55808	broad.mit.edu	37	17	74623587	74623588	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-4Z-AA7R-01A-11D-A391-08	TCGA-4Z-AA7R-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e83341c-3358-45ce-94d0-c5a7198ef8df	48202d69-6bfe-4c44-a24d-859b6b850ad5	g.chr17:74623587_74623588delAG	ENST00000156626.7	-	3	1108_1109	c.909_910delCT	c.(907-912)ctcttcfs	p.F304fs	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	304					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GAGTCCAGGAAGAGAGTGAGGT	0.520													29	64	---	---	---	---