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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
PQLC2	54896	broad.mit.edu	37	1	19653755	19653755	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:19653755C>G	uc001bby.2	+	8	1005	c.653C>G	c.(652-654)TCT>TGT	p.S218C	PQLC2_uc001bbz.2_Missense_Mutation_p.S153C|PQLC2_uc001bca.2_Missense_Mutation_p.S218C|PQLC2_uc001bcb.2_Missense_Mutation_p.S107C|PQLC2_uc001bcc.2_Missense_Mutation_p.S107C	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	218	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCTACTCTCTGTTCGCG	0.527		NaN											0	0	0	0.080935	0	9	81				
HDAC1	3065	broad.mit.edu	37	1	32797278	32797278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:32797278C>T	uc001bvb.1	+	11	1153	c.1090C>T	c.(1090-1092)CAG>TAG	p.Q364*	HDAC1_uc010ohf.1_Nonsense_Mutation_p.Q335*|HDAC1_uc001bvc.1_Nonsense_Mutation_p.Q120*	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	364					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGGCCACAGACAGCGACTGTT	0.552		NaN											0	0	0	0.125774	0	26	89				
CYP4Z1	199974	broad.mit.edu	37	1	47583503	47583503	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:47583503G>T	uc001cqu.1	+	12	1418	c.1415G>T	c.(1414-1416)CGC>CTC	p.R472L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	472	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						ACTCTGCTCCGCTTCAAGCTG	0.468		NaN											1	0	9.7654e-05	0.043863	0.000105708	19	35				
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:119923746C>T	uc001ehq.1	+	3	390	c.38C>T	c.(37-39)GCG>GTG	p.A13V	HAO2_uc001ehr.1_Missense_Mutation_p.A13V	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	13	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473		NaN											0	0	0	0.014758	0	4	144				
SEC22B	9554	broad.mit.edu	37	1	145103956	145103956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:145103956C>T	uc001eml.1	+	4	264	c.124C>T	c.(124-126)CGA>TGA	p.R42*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	42	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						GTAACTCTTTCGAAAGTTGAA	0.388		NaN											0	0	0	0.014758	0	3	20				
SNX27	81609	broad.mit.edu	37	1	151655862	151655862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:151655862A>G	uc001eyn.1	+	8	1196	c.1180A>G	c.(1180-1182)AAA>GAA	p.K394E	SNX27_uc001eyo.2_Missense_Mutation_p.K301E|SNX27_uc001eyp.2_Missense_Mutation_p.K208E	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	394					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTTACATCAAAGCAGAAGA	0.358		NaN											0	0	0	0.058154	0	8	23				
RGS5	8490	broad.mit.edu	37	1	163117208	163117208	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:163117208C>G	uc001gcn.2	-	5	717	c.470G>C	c.(469-471)AGA>ACA	p.R157T	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	157	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGGATTCTTTTCTGGGC	0.453		NaN											0	0	0	0.049695	0	20	46				
HMCN1	83872	broad.mit.edu	37	1	186024541	186024541	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:186024541C>T	uc001grq.1	+	45	7108	c.6879C>T	c.(6877-6879)ACC>ACT	p.T2293T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2293	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAACCATAACCAACAGTGGCA	0.443		NaN											0	0	0	0.062417	0	19	37				
SIPA1L2	57568	broad.mit.edu	37	1	232601037	232601037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:232601037G>A	uc001hvg.2	-	7	2527	c.2369C>T	c.(2368-2370)GCA>GTA	p.A790V	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	790	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTATGGGCTGCATTTTCTGC	0.488		NaN											0	0	0	0.014758	0	4	138				
LYST	1130	broad.mit.edu	37	1	235952067	235952067	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:235952067G>A	uc001hxj.2	-	13	4797	c.4622C>T	c.(4621-4623)TCA>TTA	p.S1541L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1541					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGATCCCAGTGAAATTATATG	0.408		NaN							Chediak-Higashi_syndrome				0	0	0	0.069234	0	11	20				
HEATR1	55127	broad.mit.edu	37	1	236716940	236716940	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716940A>G	uc001hyd.1	-	43	6303	c.6178T>C	c.(6178-6180)TCT>CCT	p.S2060P	HEATR1_uc009xgh.1_Missense_Mutation_p.S1222P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	2060					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCAAAGAGAGTCATCCGCC	0.493		NaN											0	0	0	0.050027	0	16	55				
HEATR1	55127	broad.mit.edu	37	1	236716964	236716964	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716964A>G	uc001hyd.1	-	43	6279	c.6154T>C	c.(6154-6156)TTT>CTT	p.F2052L	HEATR1_uc009xgh.1_Missense_Mutation_p.F1214L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	2052					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCCACCGAAAACTGTGCGATG	0.493		NaN											0	0	0	0.080422	0	19	58				
OR2T33	391195	broad.mit.edu	37	1	248436878	248436878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:248436878G>A	uc010pzi.1	-	1	239	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTAGTCAGCCGCCATTTTGGG	0.567		NaN											0	0	0	0.139131	0	51	163				
RPP38	10557	broad.mit.edu	37	10	15145354	15145354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:15145354G>A	uc001iny.3	+	3	754	c.41G>A	c.(40-42)CGT>CAT	p.R14H	RPP38_uc009xjm.2_Missense_Mutation_p.R14H|RPP38_uc001inx.3_Missense_Mutation_p.R14H	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	14					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						GGATCTCTCCGTAAGACGAGA	0.498		NaN											0	0	0	0.099896	0	26	70				
NPFFR1	64106	broad.mit.edu	37	10	72026088	72026088	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:72026088C>T	uc010qjk.1	-	1	67	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	23	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						GGGGTGGCCTCAGTGTTAGTC	0.557		NaN											0	0	0	0.014758	0	5	27				
DNTT	1791	broad.mit.edu	37	10	98078110	98078110	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:98078110G>A	uc001kmf.2	+	2	375	c.205G>A	c.(205-207)GAT>AAT	p.D69N	DNTT_uc001kmg.2_Missense_Mutation_p.D69N	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	69	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATTTTGCAGTGATTCTGTCAC	0.458		NaN											0	0	0	0.139131	0	55	83				
SORCS1	114815	broad.mit.edu	37	10	108380301	108380301	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:108380301T>C	uc001kym.2	-	20	2689	c.2681A>G	c.(2680-2682)CAC>CGC	p.H894R	SORCS1_uc001kyl.2_Missense_Mutation_p.H894R|SORCS1_uc009xxs.2_Missense_Mutation_p.H894R|SORCS1_uc001kyn.1_Missense_Mutation_p.H894R|SORCS1_uc001kyo.2_Missense_Mutation_p.H894R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	894	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGAGACAGGTGCACGTGCTC	0.557		NaN											0	0	0	0.0333	0	17	30				
INPP5A	3632	broad.mit.edu	37	10	134563026	134563026	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:134563026C>G	uc001llp.2	+	10	986	c.738C>G	c.(736-738)CTC>CTG	p.L246L	INPP5A_uc001llo.1_Silent_p.L246L|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	246					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGCAGACGCTCTGCACAAAAG	0.612		NaN											0	0	0	0.099896	0	23	47				
QSER1	79832	broad.mit.edu	37	11	32994985	32994985	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:32994985G>A	uc001mty.2	+	11	5128	c.4861G>A	c.(4861-4863)GAT>AAT	p.D1621N	QSER1_uc001mtz.1_Missense_Mutation_p.D1382N|QSER1_uc001mua.2_Missense_Mutation_p.D1126N	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1621										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					AATTACTCGAGATTCTAAAGC	0.333		NaN											0	0	0	0.069288	0	23	30				
TYR	7299	broad.mit.edu	37	11	88911384	88911384	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:88911384C>T	uc001pcs.2	+	1	345	c.263C>T	c.(262-264)ACC>ATC	p.T88I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	88	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TATAATAGGACCTGCCAGTGC	0.502		NaN							Oculocutaneous_Albinism				0	0	0	0.047766	0	9	36				
KCNA6	3742	broad.mit.edu	37	12	4919301	4919301	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:4919301G>A	uc001qng.2	+	1	960	c.94G>A	c.(94-96)GGC>AGC	p.G32S		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	32						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CCCGGAGGCCGGCGGGGGCGG	0.662		NaN								HNSCC(72;0.22)			0	0	0	0.045705	0	27	56				
SP1	6667	broad.mit.edu	37	12	53776442	53776442	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:53776442C>G	uc001scw.2	+	3	808	c.711C>G	c.(709-711)CCC>CCG	p.P237P	SP1_uc010sog.1_Silent_p.P230P	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	237	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGGCTGTCCCCCTCCAAGGCC	0.488		NaN											0	0	0	0.069288	0	24	61				
C12orf45	121053	broad.mit.edu	37	12	105381948	105381948	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:105381948T>A	uc001tlb.2	+	2	152	c.119T>A	c.(118-120)ATA>AAA	p.I40K		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	40											0						TTTTCAGGTATATGGGACAGG	0.438		NaN											0	0	0	0.02938	0	7	10				
NBEA	26960	broad.mit.edu	37	13	36026232	36026232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr13:36026232C>T	uc001uvb.2	+	40	6514	c.6308C>T	c.(6307-6309)ACG>ATG	p.T2103M	NBEA_uc010abi.2_Missense_Mutation_p.T759M	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2103						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATTAGGCACGGAAGAAGAT	0.308		NaN											0	0	0	0.09319	0	9	12				
MIPOL1	145282	broad.mit.edu	37	14	37892073	37892073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:37892073C>T	uc001wuc.2	+	12	1453	c.950C>T	c.(949-951)TCT>TTT	p.S317F	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286F|MIPOL1_uc001wud.2_Missense_Mutation_p.S317F|MIPOL1_uc010ams.2_Missense_Mutation_p.S317F|MIPOL1_uc001wue.2_Missense_Mutation_p.S286F|MIPOL1_uc010amt.2_Missense_Mutation_p.S136F	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	317	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAGTTGTTATCTATGCAACAA	0.323		NaN											0	0	0	0.058154	0	7	14				
KIAA0831	22863	broad.mit.edu	37	14	55836491	55836491	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:55836491C>T	uc001xbx.1	-	10	1361	c.1325G>A	c.(1324-1326)CGG>CAG	p.R442Q	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R329Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	442					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						ATCACAAAACCGGGGACTAGG	0.587		NaN											0	0	0	0.132662	0	16	43				
SPTB	6710	broad.mit.edu	37	14	65259855	65259855	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:65259855C>T	uc001xht.2	-	13	2580	c.2526G>A	c.(2524-2526)CAG>CAA	p.Q842Q	SPTB_uc001xhr.2_Silent_p.Q842Q|SPTB_uc001xhs.2_Silent_p.Q842Q|SPTB_uc001xhu.2_Silent_p.Q842Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	842	Spectrin 6.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCCTCTGCTGACGCA	0.627		NaN											0	0	0	0.105934	0	13	50				
TTLL5	23093	broad.mit.edu	37	14	76186104	76186104	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:76186104A>G	uc001xrx.2	+	11	1074	c.869A>G	c.(868-870)TAT>TGT	p.Y290C	TTLL5_uc010ask.1_Missense_Mutation_p.Y290C|TTLL5_uc001xry.1_Intron	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	290	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGGAGGATTATGGAAACAAA	0.388		NaN											0	0	0	0.115264	0	2	23				
HERC2	8924	broad.mit.edu	37	15	28467317	28467317	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:28467317G>C	uc001zbj.2	-	36	5615	c.5509C>G	c.(5509-5511)CAA>GAA	p.Q1837E		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1837					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGCACCTTGAGCAGAAGCA	0.493		NaN											0	0	0	0.080935	0	8	26				
CASC5	57082	broad.mit.edu	37	15	40914878	40914878	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:40914878G>C	uc010bbs.1	+	11	2655	c.2494G>C	c.(2494-2496)GAA>CAA	p.E832Q	CASC5_uc010ucq.1_Missense_Mutation_p.E656Q|CASC5_uc001zme.2_Missense_Mutation_p.E806Q|CASC5_uc010bbt.1_Missense_Mutation_p.E806Q	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	832					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTAAAAGTTGAAAAATGTGG	0.358		NaN											0	0	0	0.02938	0	6	17				
DENND4A	10260	broad.mit.edu	37	15	65988761	65988761	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:65988761C>T	uc002aph.2	-	21	3271	c.2893G>A	c.(2893-2895)GTT>ATT	p.V965I	DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GTGAGGCGAACGATACTGGAA	0.383		NaN											0	0	0	0.021553	0	5	26				
NOXO1	124056	broad.mit.edu	37	16	2029466	2029466	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:2029466G>T	uc002cnx.2	-	7	797	c.793C>A	c.(793-795)CGC>AGC	p.R265S	NOXO1_uc002cnz.2_Missense_Mutation_p.R259S|NOXO1_uc002coa.2_Missense_Mutation_p.R264S|NOXO1_uc002cny.2_Missense_Mutation_p.R260S	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1 isoform c	265	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity				0						TCCAACACGCGCACGCGCGCC	0.706		NaN											1	0	2.0095e-06	0.02938	2.19789e-06	6	28				
CD19	930	broad.mit.edu	37	16	28948412	28948412	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:28948412G>A	uc002drs.2	+	8	1215	c.1153G>A	c.(1153-1155)GTC>ATC	p.V385I	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.V385I	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	385	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GAGCAGCGACGTCCAGGCGGA	0.682		NaN											0	0	0	0.014758	0	4	17				
CX3CL1	6376	broad.mit.edu	37	16	57416628	57416628	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:57416628C>T	uc002eli.2	+	3	945	c.878C>T	c.(877-879)TCA>TTA	p.S293L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	293	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCTGTCTCCTCAGAAGGGACC	0.672		NaN											0	0	0	0.043863	0	19	55				
ADAMTS18	170692	broad.mit.edu	37	16	77465414	77465414	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:77465414C>G	uc002ffc.3	-	3	692	c.273G>C	c.(271-273)CAG>CAC	p.Q91H	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTCTGGCATTCTGCGCCGATC	0.478		NaN											0	0	0	0.139131	0	59	160				
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:33769076G>C	uc002hjk.1	-	3	1758	c.1428C>G	c.(1426-1428)CTC>CTG	p.L476L	SLFN13_uc010wch.1_Silent_p.L476L|SLFN13_uc002hjl.2_Silent_p.L476L|SLFN13_uc010ctt.2_Silent_p.L158L|SLFN13_uc002hjm.2_Silent_p.L145L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557		NaN											0	0	0	0.132662	0	14	100				
UBTF	7343	broad.mit.edu	37	17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:42286824C>T	uc002igb.2	-	16	1868	c.1801G>A	c.(1801-1803)GGC>AGC	p.G601S	UBTF_uc002igc.2_Missense_Mutation_p.G564S|UBTF_uc010czs.2_Missense_Mutation_p.G601S|UBTF_uc002igd.2_Missense_Mutation_p.G564S|UBTF_uc010czt.2_Missense_Mutation_p.G601S|UBTF_uc002ige.2_Missense_Mutation_p.G564S	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	601	HMG box 6.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597		NaN											0	0	0	0.080935	0	11	46				
CBX1	10951	broad.mit.edu	37	17	46154251	46154251	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:46154251A>G	uc002ind.3	-	2	597	c.116T>C	c.(115-117)CTC>CCC	p.L39P	CBX1_uc002ine.3_Missense_Mutation_p.L39P	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	39	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						CCACTTTAGGAGGTACTCCAC	0.463		NaN											0	0	0	0.009096	0	3	146				
CARD14	79092	broad.mit.edu	37	17	78166304	78166304	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:78166304C>G	uc002jxw.1	+	9	1437	c.1242C>G	c.(1240-1242)CTC>CTG	p.L414L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L414L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.L177L|CARD14_uc010dhu.1_Silent_p.L212L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	414					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGCAGCTCAAGCAGGAAG	0.612		NaN											0	0	0	0.049695	0	19	59				
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561319T>C	uc002lcr.1	-	1	670	c.317A>G	c.(316-318)CAG>CGG	p.Q106R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	106					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGCCTTTTCCTGGTCCTGAAG	0.652		NaN											0	0	0	0.069234	0	11	74				
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561321G>C	uc002lcr.1	-	1	668	c.315C>G	c.(313-315)GAC>GAG	p.D105E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	105					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CCTTTTCCTGGTCCTGAAGAG	0.662		NaN											0	0	0	0.058154	0	10	71				
MPND	84954	broad.mit.edu	37	19	4357557	4357557	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:4357557C>G	uc002mae.2	+	10	1278	c.1211C>G	c.(1210-1212)CCT>CGT	p.P404R	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.P354R|MPND_uc002maf.2_Missense_Mutation_p.P404R|MPND_uc002mah.2_Missense_Mutation_p.P292R|MPND_uc002mai.2_Missense_Mutation_p.P263R	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	404							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCTCACCTTTCTGGGTG	0.672		NaN											0	0	0	0.09319	0	7	26				
KIAA1543	57662	broad.mit.edu	37	19	7675446	7675446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:7675446C>T	uc002mgv.3	+	6	946	c.845C>T	c.(844-846)CCT>CTT	p.P282L	KIAA1543_uc002mgu.3_Missense_Mutation_p.P309L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	282	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						TCTCGCCTTCCTCGTGGCTGC	0.642		NaN											0	0	0	0.139131	0	63	164				
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:23543307G>A	uc002nre.2	-	4	2587	c.2474C>T	c.(2473-2475)CCC>CTC	p.P825L	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403		NaN											0	0	0	0.080935	0	11	52				
POLR1A	25885	broad.mit.edu	37	2	86258591	86258591	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258591C>G	uc002sqs.2	-	30	4819	c.4440G>C	c.(4438-4440)CTG>CTC	p.L1480L	POLR1A_uc010ytb.1_Silent_p.L846L	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1480					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GGGGCTGCGTCAGGAGGGCGG	0.632		NaN											0	0	0	0.086207	0	36	111				
POLR1A	25885	broad.mit.edu	37	2	86258707	86258707	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258707C>T	uc002sqs.2	-	30	4703	c.4324G>A	c.(4324-4326)GAT>AAT	p.D1442N	POLR1A_uc010ytb.1_Missense_Mutation_p.D808N	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1442					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						atgtcttcatcgtcgttctcc	0.393		NaN											0	0	0	0.038395	0	17	53				
POLR1A	25885	broad.mit.edu	37	2	86258743	86258743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258743C>A	uc002sqs.2	-	30	4667	c.4288G>T	c.(4288-4290)GAG>TAG	p.E1430*	POLR1A_uc010ytb.1_Nonsense_Mutation_p.E796*	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1430					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						tcctcttcctcACTCTCATAA	0.383		NaN											1	0	1.67942e-08	0.038395	1.8562e-08	18	56				
CDH26	60437	broad.mit.edu	37	20	58545166	58545166	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:58545166C>T	uc002ybe.2	+	3	456	c.156C>T	c.(154-156)TCC>TCT	p.S52S	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	52	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TACGGCGATCCAAGAGAAGAT	0.502		NaN											0	0	0	0.108266	0	24	112				
LSM14B	149986	broad.mit.edu	37	20	60697745	60697745	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:60697745C>T	uc010gjy.1	+	1	229	c.23C>T	c.(22-24)CCG>CTG	p.P8L	LSM14B_uc002ybt.2_Missense_Mutation_p.P8L|LSM14B_uc010gjx.1_Missense_Mutation_p.P8L|LSM14B_uc002ybv.2_Missense_Mutation_p.P8L|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	8					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAGGCACCCCGTATCTGGGC	0.542		NaN											0	0	0	0.021553	0	6	33				
COL18A1	80781	broad.mit.edu	37	21	46914788	46914788	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr21:46914788C>T	uc011afs.1	+	27	3658	c.3637C>T	c.(3637-3639)CGG>TGG	p.R1213W	COL18A1_uc002zhg.2_Missense_Mutation_p.R798W|COL18A1_uc002zhi.2_Missense_Mutation_p.R978W	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1213	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCATACGGACGGCCGGGGTA	0.682		NaN											0	0	0	0.047766	0	7	22				
GGT1	2678	broad.mit.edu	37	22	25011027	25011027	+	Silent	SNP	C	C	T	rs112364951	by1000genomes	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:25011027C>T	uc003aan.1	+	7	802	c.315C>T	c.(313-315)AAC>AAT	p.N105N	GGT1_uc003aas.1_Silent_p.N105N|GGT1_uc003aat.1_Silent_p.N105N|GGT1_uc003aau.1_Silent_p.N105N|GGT1_uc003aav.1_Silent_p.N105N|GGT1_uc003aaw.1_Silent_p.N105N|GGT1_uc003aax.1_Silent_p.N105N	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	105	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	AGGTCATCAACGCCCGCGAGG	0.637		NaN											0	0	0	0.009096	0	4	60				
LARGE	9215	broad.mit.edu	37	22	33780235	33780235	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:33780235C>G	uc003and.3	-	9	1527	c.948G>C	c.(946-948)TGG>TGC	p.W316C	LARGE_uc011amd.1_Missense_Mutation_p.W115C|LARGE_uc003ane.3_Missense_Mutation_p.W316C|LARGE_uc010gwp.2_Missense_Mutation_p.W316C|LARGE_uc011ame.1_Missense_Mutation_p.W248C|LARGE_uc011amf.1_Missense_Mutation_p.W316C|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	316	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CGGTCAGCCTCCACATCTGCT	0.488		NaN											0	0	0	0.059317	0	35	85				
CYTH4	27128	broad.mit.edu	37	22	37699360	37699360	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:37699360C>T	uc003arf.2	+	8	729	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CYTH4_uc003are.2_Missense_Mutation_p.R205W|CYTH4_uc011amw.1_Missense_Mutation_p.R148W|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	205	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCCAACGTCCGGGACAGGCC	0.612		NaN											0	0	0	0.058154	0	9	52				
PLXNB2	23654	broad.mit.edu	37	22	50718455	50718455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50718455G>C	uc003bkv.3	-	26	4327	c.4221C>G	c.(4219-4221)ATC>ATG	p.I1407M	PLXNB2_uc003bkt.1_Missense_Mutation_p.I199M|PLXNB2_uc003bku.1_Missense_Mutation_p.I392M	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1407	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTACAGGCAGATGGACATCC	0.607		NaN											0	0	0	0.058154	0	10	46				
TYMP	1890	broad.mit.edu	37	22	50968116	50968116	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50968116C>T	uc003bmb.3	-	1	143	c.23G>A	c.(22-24)GGA>GAA	p.G8E	TYMP_uc003bmc.3_Missense_Mutation_p.G8E|TYMP_uc003bmd.3_Missense_Mutation_p.G8E|TYMP_uc010hbd.2_Missense_Mutation_p.G8E|TYMP_uc003bme.3_Missense_Mutation_p.G8E|TYMP_uc003bmf.3_Missense_Mutation_p.G8E|TYMP_uc011arz.1_Missense_Mutation_p.G8E	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	8					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGCCCCGGTTCCCGGGGTCAT	0.716		NaN											0	0	0	0.014758	0	4	25				
FGD5	152273	broad.mit.edu	37	3	14862507	14862507	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:14862507G>A	uc003bzc.2	+	1	2039	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	FGD5_uc011avk.1_Silent_p.P643P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	643					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GCGACTCCCCGGACAAGTACA	0.507		NaN											0	0	0	0.062417	0	21	45				
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:49397710C>T	uc003cwu.2	-	5	790	c.514G>A	c.(514-516)GAA>AAA	p.E172K	RHOA_uc010hku.2_Missense_Mutation_p.E91K|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	172					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTAGCCATTTCAAAAACCTCT	0.483		NaN											0	0	0	0.055883	0	20	91		Valid		
ADPRH	141	broad.mit.edu	37	3	119305346	119305346	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:119305346G>A	uc003ecs.2	+	4	811	c.513G>A	c.(511-513)GGG>GGA	p.G171G	ADPRH_uc010hqv.2_Silent_p.G171G|ADPRH_uc011bjb.1_Silent_p.G64G|ADPRH_uc003ect.2_Silent_p.G171G	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	171					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCTACCTGGGGGCCCTTGCGT	0.542		NaN											0	0	0	0.069456	0	38	115				
PLSCR1	5359	broad.mit.edu	37	3	146251317	146251317	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:146251317G>T	uc003evx.3	-	3	422	c.34C>A	c.(34-36)CAC>AAC	p.H12N	PLSCR1_uc003evy.3_Missense_Mutation_p.H5N|PLSCR1_uc011bnn.1_Silent_p.L3L|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.H12N	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	12	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GTTTCCGGGTGAGAAGCATTC	0.348		NaN											1	0	3.62473e-10	0.062417	4.0489e-10	22	82				
BOD1L	259282	broad.mit.edu	37	4	13601146	13601146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601146C>A	uc003gmz.1	-	10	7495	c.7378G>T	c.(7378-7380)GAA>TAA	p.E2460*	BOD1L_uc010idr.1_Nonsense_Mutation_p.E1797*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2460							DNA binding			ovary(5)|breast(1)	6						TTCTTCTCTTCTGCATTTATG	0.468		NaN									OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.39187e-15	0.049695	2.7005e-15	19	60				
BOD1L	259282	broad.mit.edu	37	4	13601587	13601587	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601587C>T	uc003gmz.1	-	10	7054	c.6937G>A	c.(6937-6939)GAA>AAA	p.E2313K	BOD1L_uc010idr.1_Missense_Mutation_p.E1650K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2313							DNA binding			ovary(5)|breast(1)	6						AGCCGATCTTCATCCTGGAGG	0.522		NaN											0	0	0	0.058154	0	10	6				
PCDH18	54510	broad.mit.edu	37	4	138451062	138451062	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:138451062C>G	uc003ihe.3	-	1	2568	c.2181G>C	c.(2179-2181)GAG>GAC	p.E727D	PCDH18_uc003ihf.3_Missense_Mutation_p.E720D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507D|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	727	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TGTCTTTCTTCTCGCGGTTAC	0.448		NaN											0	0	0	0.069288	0	23	43				
SLC6A19	340024	broad.mit.edu	37	5	1214154	1214154	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:1214154C>G	uc003jbw.3	+	6	917	c.861C>G	c.(859-861)ATC>ATG	p.I287M		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	287	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCCTCATCTCCTTCTCCA	0.622		NaN											0	0	0	0.0918	0	24	85				
IL6ST	3572	broad.mit.edu	37	5	55252048	55252048	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:55252048C>G	uc003jqq.2	-	10	1327	c.1072G>C	c.(1072-1074)GAA>CAA	p.E358Q	IL6ST_uc010iwb.2_Missense_Mutation_p.E358Q|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E69Q|IL6ST_uc003jqr.2_Nonstop_Mutation_p.*330S	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	358	Extracellular (Potential).|Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCATTGGCTTCAAAAGGAGGC	0.279		NaN	O		hepatocellular ca								0	0	0	0.02938	0	7	35				
PCDHA4	56144	broad.mit.edu	37	5	140188974	140188974	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140188974G>A	uc003lhi.2	+	1	2303	c.2202G>A	c.(2200-2202)CCG>CCA	p.P734P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P734P|PCDHA4_uc011daa.1_Silent_p.P734P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	734	Cytoplasmic (Potential).|PXXP 1.|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTCCGGGCAAGCCCA	0.682		NaN											0	0	0	0.055883	0	22	50				
PCDHA9	9752	broad.mit.edu	37	5	140229486	140229486	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140229486C>T	uc003lhu.2	+	1	2130	c.1406C>T	c.(1405-1407)CCG>CTG	p.P469L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.P469L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.672		NaN											0	0	0	0.09836	0	41	87				
PCDHB2	56133	broad.mit.edu	37	5	140476332	140476332	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140476332C>T	uc003lil.2	+	1	2096	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	PCDHB2_uc003lim.1_Missense_Mutation_p.P314L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	653	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.721		NaN											0	0	0	0.0918	0	24	68				
PCDHB4	56131	broad.mit.edu	37	5	140503159	140503159	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140503159G>A	uc003lip.1	+	1	1579	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	527	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGCGT	0.677		NaN											0	0	0	0.092188	0	42	85				
PCDHB15	56121	broad.mit.edu	37	5	140626734	140626734	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140626734C>T	uc003lje.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	530	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.662		NaN											0	0	0	0.045705	0	33	78				
HIST1H1D	3007	broad.mit.edu	37	6	26234607	26234607	+	Silent	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:26234607T>C	uc003nhd.2	-	1	610	c.555A>G	c.(553-555)AAA>AAG	p.K185K		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	185					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TCTTGGCAGCTTTTTTTGGCT	0.522		NaN											0	0	0	0.009096	0	3	131				
VARS	7407	broad.mit.edu	37	6	31760629	31760629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:31760629C>T	uc003nxe.2	-	4	989	c.566G>A	c.(565-567)CGC>CAC	p.R189H	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	189	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GACAAACCAGCGAGTCACATT	0.547		NaN											0	0	0	0.080935	0	12	46				
GPR110	266977	broad.mit.edu	37	6	46969267	46969267	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:46969267G>A	uc003oyt.2	-	14	2829	c.2630C>T	c.(2629-2631)TCA>TTA	p.S877L	GPR110_uc011dwl.1_Missense_Mutation_p.S565L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	877	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						GAAAGGCTTTGAGAATTTGGG	0.313		NaN											0	0	0	0.080935	0	9	18				
CD164	8763	broad.mit.edu	37	6	109691643	109691643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:109691643G>C	uc003pte.2	-	5	579	c.398C>G	c.(397-399)TCT>TGT	p.S133C	CD164_uc003ptd.2_Missense_Mutation_p.S133C|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133C|CD164_uc010kdn.2_Missense_Mutation_p.S120C	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	133	Thr-rich.|Extracellular (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GGAAGTTGTAGAAGGGGAGGG	0.378		NaN											0	0	0	0.014758	0	4	21				
TNFAIP3	7128	broad.mit.edu	37	6	138198247	138198247	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:138198247G>A	uc003qhr.2	+	6	906	c.840G>A	c.(838-840)CGG>CGA	p.R280R	TNFAIP3_uc003qhs.2_Silent_p.R280R	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	280	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAGAGACCGGGGAAGATTTG	0.358		NaN	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								0	0	0	0.146539	0	13	47				
KLHL7	55975	broad.mit.edu	37	7	23164704	23164704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:23164704G>A	uc003svs.3	+	4	648	c.355G>A	c.(355-357)GAT>AAT	p.D119N	KLHL7_uc003svr.3_Missense_Mutation_p.D97N|KLHL7_uc011jys.1_Missense_Mutation_p.D43N|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.D71N|KLHL7_uc003svp.2_Missense_Mutation_p.D97N|KLHL7_uc003svq.2_Missense_Mutation_p.D119N|KLHL7_uc011jyu.1_Missense_Mutation_p.D97N	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	119						Golgi apparatus|nucleolus|plasma membrane					0						GTCTTTGCTGGATGCAGCAAA	0.318		NaN											0	0	0	0.146539	0	16	28				
SEMA3D	223117	broad.mit.edu	37	7	84751133	84751133	+	Silent	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:84751133T>C	uc003uic.2	-	1	115	c.75A>G	c.(73-75)CTA>CTG	p.L25L	SEMA3D_uc010led.2_Silent_p.L25L|SEMA3D_uc010lee.1_Silent_p.L25L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	25					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TGGTCATGCTTAGCATCATCA	0.333		NaN											0	0	0	0.049695	0	19	31				
SVOPL	136306	broad.mit.edu	37	7	138310792	138310792	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:138310792G>A	uc011kqh.1	-	12	1185	c.1185C>T	c.(1183-1185)GCC>GCT	p.A395A	SVOPL_uc003vue.2_Silent_p.A243A	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	395	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						CAATCAGGCCGGCACTAGAAA	0.502		NaN											0	0	0	0.115264	0	3	38				
CDKN2B	1030	broad.mit.edu	37	9	22006036	22006036	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:22006036G>A	uc003zpo.2	-	2	727	c.367C>T	c.(367-369)CGG>TGG	p.R123W	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B isoform 1	123	ANK 4.				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGGTGGCCCCGCTCCTCGGCC	0.682		NaN							Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				0	0	0	0.038147	0	6	14				
PTPN3	5774	broad.mit.edu	37	9	112145729	112145729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:112145729G>A	uc004bed.2	-	23	2468	c.2356C>T	c.(2356-2358)CGA>TGA	p.R786*	PTPN3_uc004beb.2_Nonsense_Mutation_p.R655*|PTPN3_uc004bec.2_Nonsense_Mutation_p.R610*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.R741*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.R632*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.R254*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.R499*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.R454*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	786	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGCATTTCTCGGGACACATAG	0.602		NaN											0	0	0	0.117977	0	45	73				
TTF1	7270	broad.mit.edu	37	9	135263551	135263551	+	Missense_Mutation	SNP	G	G	A	rs112758716		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135263551G>A	uc004cbl.2	-	8	2339	c.2287C>T	c.(2287-2289)CGG>TGG	p.R763W	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R248W	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	763					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCTTGGCCCGCAGGGCATTC	0.363		NaN											0	0	0	0.115264	0	3	38				
GFI1B	8328	broad.mit.edu	37	9	135866388	135866388	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135866388G>A	uc004ccg.2	+	7	1095	c.944G>A	c.(943-945)CGC>CAC	p.R315H	GFI1B_uc010mzy.2_Missense_Mutation_p.R269H	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	315	C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCTTCCAGCGCAAGGTGGAC	0.647		NaN											0	0	0	0.009096	0	3	53				
CACNA1B	774	broad.mit.edu	37	9	140811877	140811877	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:140811877C>G	uc004cog.2	+	6	1105	c.960C>G	c.(958-960)CTC>CTG	p.L320L		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	320	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGACATCCTCTATAATGTGA	0.582		NaN											0	0	0	0.144211	0	27	41				
KDM6A	7403	broad.mit.edu	37	X	44870260	44870260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chrX:44870260C>T	uc004dge.3	+	5	814	c.439C>T	c.(439-441)CAG>TAG	p.Q147*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q147*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	147	TPR 2.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAATGCATTTCAGTGGTAAGT	0.318		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.069234	0	10	4		Valid		
ARID1A	8289	broad.mit.edu	37	1	27100151	27100152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:27100151_27100152insG	uc001bmv.1	+	16	4320_4321	c.3947_3948insG	c.(3946-3948)TCGfs	p.S1316fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S1315fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S1316fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S933fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.S162fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1318fs*163(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTATT	0.51		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	28	79	---	Valid	---	---
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:70091534delA	uc001svg.2	-	2	272	c.45delT	c.(43-45)TTTfs	p.F15fs	BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	15	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353		NaN											NaN	NaN	NaN	NaN	NaN	9	2947	---		---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760122	102760123	+	Frame_Shift_Ins	INS	-	-	A	rs147416689	by1000genomes	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:102760122_102760123insA	uc003vbc.2	-	3	1170_1171	c.842_843insT	c.(841-843)TTCfs	p.F281fs	NAPEPLD_uc003vbd.2_Frame_Shift_Ins_p.F281fs|NAPEPLD_uc011klj.1_Frame_Shift_Ins_p.F354fs|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779).	phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						TATCTCCTGCGAAAAAAAATCG	0.46		NaN											NaN	NaN	NaN	NaN	NaN	17	56	---		---	---
