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
CAMTA1	23261	broad.mit.edu	37	1	7723933	7723933	+	Silent	SNP	C	C	T	rs141193119		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:7723933C>T	ENST00000303635.7	+	9	1533	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	CAMTA1_ENST00000439411.2_Silent_p.F442F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCACAAGTTCGCCTTTCCCA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								15	41					0	0	0.500413	0	0
GPR148	344561	broad.mit.edu	37	2	131487207	131487207	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:131487207C>T	ENST00000309926.4	+	1	565	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	161						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTTCATGTCCCATGGGGCTG	0.607000													8	33					0	0	0.387290	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342657	117342657	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117342657G>A	ENST00000321322.6	-	15	3061	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I	DSCAML1_ENST00000527706.1_Silent_p.I750I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	960	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTACATGCGGATGCTGTACA	0.572000													16	55					0	0	0.539581	0	0
PHKA1	5255	broad.mit.edu	37	X	71840661	71840661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:71840661C>T	ENST00000339490.3	-	19	2351	c.2051G>A	c.(2050-2052)gGa>gAa	p.G684E	PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.G684E|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.G684E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	684					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCTAGCCCTCCCTTCTGTGA	0.512000													25	16					0	0	0.693898	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880834	15880834	+	RNA	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:15880834T>C	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TTACTATCTCTGAGACTCCCG	0.468000													5	18					0	0	0.217242	0	0
FCGBP	8857	broad.mit.edu	37	19	40433426	40433426	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:40433426C>T	ENST00000221347.6	-	2	850	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	281	IgGFc-binding.					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)			CAGTGATACCCCCATGGTTGT	0.592000													3	39					0	0	0.115264	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447050	17447050	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:17447050G>A	ENST00000541323.1	+	3	574	c.129G>A	c.(127-129)aaG>aaA	p.K43K	PDGFRL_ENST00000251630.6_Silent_p.K43K|PDGFRL_ENST00000398074.3_Silent_p.K43K	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	43						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTACCAACAAGAAGGTGAAGC	0.453000													46	89					0	0	0.847076	0	0
ZNF646	9726	broad.mit.edu	37	16	31090166	31090166	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31090166C>T	ENST00000394979.2	+	1	2944	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P841S			O15015	ZN646_HUMAN	zinc finger protein 646	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGCCACAGGCCCTGCCACCC	0.627000													40	152					0	0	0.870114	0	0
TEX14	56155	broad.mit.edu	37	17	56676437	56676437	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56676437C>T	ENST00000389934.3	-	14	2386	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	TEX14_ENST00000349033.5_Missense_Mutation_p.E757K|TEX14_ENST00000240361.8_Missense_Mutation_p.E763K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	763						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCTCGACTTCATCTAATATC	0.443000													37	82					0	0	0.819951	0	0
DHX35	60625	broad.mit.edu	37	20	37630380	37630380	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:37630380G>A	ENST00000252011.3	+	9	683	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	DHX35_ENST00000373325.2_Missense_Mutation_p.R217Q|DHX35_ENST00000373323.4_Missense_Mutation_p.R186Q	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	217	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TAGAAATTCCGGGATTTCTTT	0.323000													22	103					0	0	0.624587	0	0
GABRA3	2556	broad.mit.edu	37	X	151453208	151453208	+	Splice_Site	SNP	C	C	T	rs144364391		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:151453208C>T	ENST00000370314.4	-	4	501		c.e4-1		GABRA3_ENST00000535043.1_Splice_Site|GABRA3_ENST00000370311.1_Splice_Site	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCACTGCATCTGCGTGAAAG	0.438000													29	14					0	0	0.750413	0	0
SPOCK2	9806	broad.mit.edu	37	10	73826873	73826873	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:73826873C>T	ENST00000373109.2	-	8	1159	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SPOCK2_ENST00000317376.4_Missense_Mutation_p.D239N|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Missense_Mutation_p.D239N	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	239					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGGCTCTTGTCCAGCCCTGGG	0.612000													9	11					0	0	0.307466	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:139094904C>T	ENST00000332797.6	+	1	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000													56	145					0	0	0.870114	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75553447	75553447	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75553447C>T	ENST00000604729.1	+	11	2712	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Silent_p.P805P|ZSWIM8_ENST00000604524.1_Silent_p.P805P|ZSWIM8_ENST00000398706.2_Silent_p.P805P|ZSWIM8_ENST00000603114.1_Silent_p.P772P					zinc finger, SWIM-type containing 8																		CCAACCCACCCGACCTCAAGG	0.627000													17	56					0	0	0.608945	0	0
LHX6	26468	broad.mit.edu	37	9	124971981	124971981	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:124971981C>T	ENST00000559895.1	-	6	1300	c.422G>A	c.(421-423)gGg>gAg	p.G141E	LHX6_ENST00000464484.2_Intron|LHX6_ENST00000373754.2_Intron|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000541397.2_Intron|LHX6_ENST00000482062.1_Missense_Mutation_p.G15E|LHX6_ENST00000373755.2_Missense_Mutation_p.G328E|LHX6_ENST00000394319.4_Missense_Mutation_p.G357E	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	328	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						gtgcacctgcccgcactgtac	0.637000													25	37					0	0	0.681144	0	0
THADA	63892	broad.mit.edu	37	2	43797554	43797554	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:43797554G>A	ENST00000403856.1	-	15	2307	c.2160C>T	c.(2158-2160)caC>caT	p.H720H	THADA_ENST00000402360.2_Silent_p.H720H|THADA_ENST00000415080.2_Silent_p.H430H|THADA_ENST00000405975.2_Silent_p.H720H|THADA_ENST00000405006.4_Silent_p.H720H|THADA_ENST00000404790.1_Silent_p.H720H|THADA_ENST00000330266.7_Silent_p.H430H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	720							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAACAGAAGGGTGCTGTTTGG	0.313000													19	79					0	0	0.681144	0	0
CHKB	1120	broad.mit.edu	37	22	51019885	51019885	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:51019885G>A	ENST00000406938.2	-	4	762	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	182					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGGCTCCTTGGTGAAAGGCAT	0.567000													11	29					0	0	0.435327	0	0
CPED1	79974	broad.mit.edu	37	7	120686958	120686958	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:120686958G>A	ENST00000310396.5	+	4	918	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.D151N|CPED1_ENST00000450913.2_Missense_Mutation_p.D151N	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GGGCTCTTGGGATCTGCTCAT	0.333000													20	189					0	0	0.639603	0	0
CSPP1	79848	broad.mit.edu	37	8	68007843	68007843	+	Missense_Mutation	SNP	C	C	T	rs114953032	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:68007843C>T	ENST00000262210.5	+	6	857	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	311						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373000													12	77					0	0	0.411799	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456847	156456847	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:156456847G>A	ENST00000339252.3	-	8	1524	c.992C>T	c.(991-993)tCa>tTa	p.S331L	HAVCR1_ENST00000523175.1_Missense_Mutation_p.S331L|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H320Y|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H320Y|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S331L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	326					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCTAAATGAAACACTGTA	0.353000													7	19					0	0	0.278610	0	0
LHCGR	3973	broad.mit.edu	37	2	48956337	48956337	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:48956337C>T	ENST00000294954.7	-	3	284	c.263G>A	c.(262-264)aGg>aAg	p.R88K	LHCGR_ENST00000403273.1_Missense_Mutation_p.R88K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.R88K|LHCGR_ENST00000344775.3_Missense_Mutation_p.R88K|LHCGR_ENST00000405626.1_Missense_Mutation_p.R88K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	88					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTTCTATCCTTTCCAGGGA	0.423000													36	88					0	0	0.840704	0	0
IL36B	27177	broad.mit.edu	37	2	113788670	113788670	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:113788670C>T	ENST00000259213.4	-	3	183	c.76G>A	c.(76-78)Gga>Aga	p.G26R	IL36B_ENST00000327407.2_Missense_Mutation_p.G26R	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	26					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AAAGAATTTCCACTCAGGACC	0.483000													12	47					0	0	0.479597	0	0
IGKV3-15	28913	broad.mit.edu	37	2	89384780	89384780	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:89384780C>T	ENST00000390252.2	-	0	334																											CTGAACCTGGCTGGGATACCA	0.522000													26	66					0	0	0.717897	0	0
CLDN9	9080	broad.mit.edu	37	16	3063852	3063852	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:3063852C>T	ENST00000445369.2	+	1	1396	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	163					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGGGGCCTCCCTCTACCTGG	0.711000													5	19					0	0	0.184627	0	0
CCDC18	343099	broad.mit.edu	37	1	93691891	93691891	+	Splice_Site	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:93691891T>C	ENST00000343253.7	+	17	2676	c.2172_splice	c.e17-1	p.V725_splice	CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Splice_Site_p.V21_splice|CCDC18_ENST00000401026.3_Splice_Site_p.V726_splice|CCDC18_ENST00000557479.1_Splice_Site_p.V844_splice|CCDC18_ENST00000338949.4_Splice_Site_p.V481_splice			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	725										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCTGCTTAGGTTAGGCAACTA	0.299000													11	40					0	0	0.435327	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464237	141464237	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141464237C>T	ENST00000247879.2	+	1	341	c.279C>T	c.(277-279)aaC>aaT	p.N93N	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	93					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CATTTACAAACCATCTGAGCA	0.408000													77	555					0	0	0.870114	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550407	144550407	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:144550407G>A	ENST00000262577.5	-	8	2178	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	716					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTGGGAGAAGGGGCAGGTCCC	0.667000													46	40					0	0	0.870114	0	0
MYO15A	51168	broad.mit.edu	37	17	18045505	18045505	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:18045505G>A	ENST00000205890.5	+	24	6100	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1921	IQ 1.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTAAGCGGCGATTCCGCTCT	0.577000													9	24					0	0	0.335167	0	0
USH2A	7399	broad.mit.edu	37	1	216420526	216420526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:216420526C>T	ENST00000366943.2	-	13	2596	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R737Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R737Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	737	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTAAAGCTTCGGAGAAATTT	0.383000										HNSCC(13;0.011)			58	68					0	0	0.870114	0	0
CENPU	79682	broad.mit.edu	37	4	185637552	185637552	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:185637552G>A	ENST00000281453.5	-	6	687	c.618_splice	c.e6+1	p.S206_splice	MLF1IP_ENST00000541971.1_Splice_Site_p.S206_splice	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		206					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CGTTCTTACCGATTGACTTTC	0.408000													7	22					0	0	0.278610	0	0
ACTL9	284382	broad.mit.edu	37	19	8807852	8807852	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:8807852C>T	ENST00000324436.3	-	1	1320	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	400						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGTACTGCTCCCGCAGGACCC	0.632000													35	85					0	0	0.819951	0	0
XIRP1	165904	broad.mit.edu	37	3	39225929	39225929	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:39225929G>A	ENST00000340369.3	-	2	5236	c.5008C>T	c.(5008-5010)Cca>Tca	p.P1670S	XIRP1_ENST00000421646.1_Missense_Mutation_p.P353S|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1670							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATAAATGTTGGGGAGGAGGGA	0.537000													22	76					0	0	0.639603	0	0
CHD5	26038	broad.mit.edu	37	1	6215778	6215778	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:6215778C>T	ENST00000262450.3	-	4	487		c.e4-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGGGCTCCTACAGAGACC	0.612000													7	20					0	0	0.307466	0	0
GPR75	10936	broad.mit.edu	37	2	54080991	54080991	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:54080991G>A	ENST00000394705.2	-	2	1173	c.903C>T	c.(901-903)agC>agT	p.S301S	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	301						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGGAGTCGGCTTGCTGCAG	0.537000													11	37					0	0	0.387290	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785942	130785942	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:130785942C>T	ENST00000325390.3	-	0	2925					NR_026758.1																						GGCCTGCTGGCTGATGGCATT	0.483000													5	15					0	0	0.248553	0	0
GRIA4	2893	broad.mit.edu	37	11	105797560	105797560	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:105797560G>A	ENST00000393127.2	+	13	2387	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	GRIA4_ENST00000525187.1_Silent_p.T647T|GRIA4_ENST00000282499.5_Silent_p.T647T|GRIA4_ENST00000530497.1_Silent_p.T647T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	647					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)	CTTTCCTGACGGTTGAGCGAA	0.428000													28	64					0	0	0.706142	0	0
TWF2	11344	broad.mit.edu	37	3	52263075	52263075	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:52263075G>A	ENST00000305533.5	-	9	1268	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTTTCACCCGGGCCGCGGAT	0.672000													20	41					0	0	0.639603	0	0
FAM120B	84498	broad.mit.edu	37	6	170627539	170627539	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:170627539C>T	ENST00000476287.1	+	2	1169	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.P366L|FAM120B_ENST00000537664.1_Missense_Mutation_p.P377L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	354					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAAGAAGTTCCCATGTGTACA	0.483000													60	184					0	0	0.870114	0	0
IGHM	3507	broad.mit.edu	37	14	106321636	106321636	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:106321636C>T	ENST00000390559.2	-	0	597																											CCCCTGTGATCCACGCGGCAG	0.622000													4	17					0	0	0.150653	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954832	32954832	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:32954832C>T	ENST00000342179.5	+	14	1718	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	DPY19L3_ENST00000392250.2_Silent_p.S501S|DPY19L3_ENST00000586987.1_Silent_p.S501S|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCCTATGTAGCCCTGAAATAT	0.438000													37	162					0	0	0.834066	0	0
MXRA5	25878	broad.mit.edu	37	X	3228258	3228258	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:3228258G>A	ENST00000217939.6	-	7	8140	c.7986C>T	c.(7984-7986)ccC>ccT	p.P2662P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2662	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCAGCCCCGGGAGGGGTGC	0.592000													26	21					0	0	0.681144	0	0
CEL	1056	broad.mit.edu	37	9	135942011	135942011	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:135942011C>T	ENST00000372080.4	+	5	658	c.642C>T	c.(640-642)ttC>ttT	p.F214F	CEL_ENST00000351304.7_Silent_p.F211F	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	211					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCACGCTCTTCGGGGAGTCTG	0.622000													38	77					0	0	0.870114	0	0
TRAK2	66008	broad.mit.edu	37	2	202272229	202272229	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:202272229G>A	ENST00000332624.3	-	3	611	c.183C>T	c.(181-183)ctC>ctT	p.L61L	TRAK2_ENST00000430254.1_Silent_p.L61L	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	61						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATAGAAAGAGAGTGTCTA	0.463000													21	90					0	0	0.667858	0	0
OR2T4	127074	broad.mit.edu	37	1	248524980	248524980	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:248524980C>T	ENST00000366475.1	+	1	98	c.98C>T	c.(97-99)aCc>aTc	p.T33I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAATATCACCTGGATGGCC	0.483000													42	77					0	0	0.840704	0	0
CCL7	6354	broad.mit.edu	37	17	32598281	32598281	+	Splice_Site	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:32598281A>C	ENST00000378569.2	+	2	263	c.194_splice	c.e2+1	p.I65_splice	CCL7_ENST00000200307.4_Splice_Site_p.I75_splice|CCL7_ENST00000394627.1_Splice_Site_p.*82_splice|CCL7_ENST00000394630.3_Intron	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	65					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAAGCTGTAATGTATGTGGA	0.493000													31	99					0	0	0.812448	0	0
ITGA11	22801	broad.mit.edu	37	15	68628086	68628086	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:68628086G>A	ENST00000423218.2	-	12	1469	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ITGA11_ENST00000315757.7_Silent_p.T458T			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	458					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTTGTGCATGGTGAACAGGA	0.652000													9	23					0	0	0.307466	0	0
TRBV28	28559	broad.mit.edu	37	7	142428739	142428739	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:142428739G>A	ENST00000390400.2	+	0	119																											TAGTCAAAAGGACGGGAGAGA	0.473000													8	39					0	0	0.278610	0	0
PLEK	5341	broad.mit.edu	37	2	68613777	68613777	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:68613777G>A	ENST00000234313.7	+	5	795	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	206	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGGAACTGCTGAAAACCCTTT	0.512000													26	87					0	0	0.740014	0	0
MAP4K4	9448	broad.mit.edu	37	2	102459092	102459092	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:102459092G>T	ENST00000413150.2	+	11	1026	c.971G>T	c.(970-972)aGt>aTt	p.S324I	MAP4K4_ENST00000347699.4_Missense_Mutation_p.S324I|MAP4K4_ENST00000456652.1_Missense_Mutation_p.S177I|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S177I|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S324I|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S324I|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S304I|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S324I	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	324					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATGAGTACAGTGGGAGTGAG	0.463000													3	12					6.4e-05	6.47062e-05	0.115264	1	0
ACTC1	70	broad.mit.edu	37	15	35085524	35085524	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:35085524A>T	ENST00000290378.4	-	3	1031	c.376T>A	c.(376-378)Ttt>Att	p.F126I	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	126					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGGTCTCAAACATGATCTGA	0.592000													22	95					0	0	0.654019	0	0
HOXD10	3236	broad.mit.edu	37	2	176983683	176983683	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:176983683G>A	ENST00000249501.4	+	2	1002	c.745_splice	c.e2-1	p.E249_splice	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	249						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTTTGTTAGAGGAAATCAAGT	0.358000													13	32					0	0	0.479597	0	0
DNAH5	1767	broad.mit.edu	37	5	13721277	13721277	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:13721277C>T	ENST00000265104.4	-	71	12215	c.12111G>A	c.(12109-12111)gaG>gaA	p.E4037E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4037	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCAGATTCCTCCCACGTCT	0.478000									Kartagener syndrome				26	69					0	0	0.717897	0	0
PER1	5187	broad.mit.edu	37	17	8049417	8049417	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:8049417G>A	ENST00000317276.4	-	17	2314	c.2077C>T	c.(2077-2079)Cca>Tca	p.P693S	PER1_ENST00000581082.1_Missense_Mutation_p.P673S|PER1_ENST00000354903.5_Missense_Mutation_p.P677S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	693	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTTCCGTGGGGTGGCCCCC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					24	43					0	0	0.667858	0	0
FCRL2	79368	broad.mit.edu	37	1	157738306	157738306	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:157738306C>T	ENST00000361516.3	-	5	829	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.E261K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	261	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTGGGATCTCCAGCTCTGCT	0.522000													26	155					0	0	0.740014	0	0
TMCC1	23023	broad.mit.edu	37	3	129546986	129546986	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:129546986G>A	ENST00000393238.3	-	3	576	c.236C>T	c.(235-237)cCt>cTt	p.P79L	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	79						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATCCATTTCAGGTTCTGGATC	0.532000													21	46					0	0	0.592651	0	0
BRIP1	83990	broad.mit.edu	37	17	59760670	59760670	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:59760670G>A	ENST00000259008.2	-	20	4004	c.3737C>T	c.(3736-3738)cCt>cTt	p.P1246L		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1246					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTAAAACCAGGAAACATGCC	0.279000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					18	54					0	0	0.592651	0	0
TSHR	7253	broad.mit.edu	37	14	81609529	81609529	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:81609529A>T	ENST00000541158.2	+	11	1449	c.1127A>T	c.(1126-1128)gAg>gTg	p.E376V	TSHR_ENST00000298171.2_Missense_Mutation_p.E376V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	376					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCCCAGGAAGAGACTCTACAA	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						25	59					0	0	0.654019	0	0
KIAA1468	57614	broad.mit.edu	37	18	59949585	59949585	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:59949585C>T	ENST00000256858.6	+	26	3511	c.3263C>T	c.(3262-3264)cCt>cTt	p.P1088L	KIAA1468_ENST00000398130.2_Missense_Mutation_p.P1054L			Q9P260	K1468_HUMAN	KIAA1468	1054							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGGAAGATCCTCAGTATCAA	0.388000													37	87					0	0	0.834066	0	0
PRDM16	63976	broad.mit.edu	37	1	3328233	3328233	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:3328233C>T	ENST00000378398.3	+	10	1557	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	PRDM16_ENST00000442529.2_Missense_Mutation_p.S491F|PRDM16_ENST00000441472.2_Missense_Mutation_p.S491F|PRDM16_ENST00000378391.2_Missense_Mutation_p.S491F|PRDM16_ENST00000270722.5_Missense_Mutation_p.S491F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.S492F|PRDM16_ENST00000511072.1_Missense_Mutation_p.S492F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	491	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TACTTTCCCTCCAGGCCGCAC	0.682000			T	EVI1	"""MDS, AML"""								32	93					0	0	0.819951	0	0
ARNTL2	56938	broad.mit.edu	37	12	27529307	27529307	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:27529307A>T	ENST00000544915.1	+	3	430	c.211A>T	c.(211-213)Atg>Ttg	p.M71L	ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000266503.5_Missense_Mutation_p.M105L|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000539558.1_3'UTR	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	105					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCAAGTTAAAATGAAGGCCTT	0.398000													26	57					0	0	0.760397	0	0
C10orf137	26098	broad.mit.edu	37	10	127412404	127412404	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:127412404C>T	ENST00000337623.3	+	4	514	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P137S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTGAAAATTCCCTACAGCAA	0.343000													35	104					0	0	0.834066	0	0
CD6	923	broad.mit.edu	37	11	60785271	60785271	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:60785271C>T	ENST00000313421.7	+	11	1809	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	CD6_ENST00000452451.2_Silent_p.N500N|CD6_ENST00000352009.5_Silent_p.N509N|CD6_ENST00000346437.4_Silent_p.N468N|CD6_ENST00000344028.5_Silent_p.N509N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	541					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAACTGCCAACCCTGGACACT	0.542000													15	94					0	0	0.479597	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301774	42301774	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:42301774C>T	ENST00000357396.3	+	2	559	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S106S|CEACAM3_ENST00000344550.4_Silent_p.S106S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	106	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCAATGCATCCCTGCTGATCC	0.453000													72	166					0	0	0.870114	0	0
MEP1A	4224	broad.mit.edu	37	6	46801241	46801241	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46801241G>A	ENST00000230588.4	+	11	1584	c.1575G>A	c.(1573-1575)atG>atA	p.M525I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	525	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCTCAAGCATGGTGTTCACTA	0.517000													28	192					0	0	0.740014	0	0
ASB15	142685	broad.mit.edu	37	7	123270153	123270153	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:123270153C>A	ENST00000451558.1	+	13	2095	c.1574C>A	c.(1573-1575)cCa>cAa	p.P525Q	ASB15_ENST00000540573.1_Missense_Mutation_p.P525Q|ASB15_ENST00000434204.1_Missense_Mutation_p.P525Q|ASB15_ENST00000275699.3_Missense_Mutation_p.P525Q|ASB15_ENST00000451215.1_Missense_Mutation_p.P525Q			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	525	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGAGAATGGCCAGAAATCCGC	0.358000													78	50					9.55688e-25	9.85259e-25	0.870114	1	0
DCDC2	51473	broad.mit.edu	37	6	24178684	24178684	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:24178684G>A	ENST00000378454.3	-	9	1501	c.1200C>T	c.(1198-1200)cgC>cgT	p.R400R	DCDC2_ENST00000378450.3_Silent_p.R153R	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CACGAGCAGGGCGTGCCTGCT	0.522000													47	77					0	0	0.870114	0	0
SVEP1	79987	broad.mit.edu	37	9	113312198	113312198	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:113312198C>T	ENST00000401783.2	-	2	1054	c.718G>A	c.(718-720)Gag>Aag	p.E240K	SVEP1_ENST00000302728.8_Missense_Mutation_p.E240K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E217K|SVEP1_ENST00000374461.1_Missense_Mutation_p.E217K|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	240	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGTGCTCCTCCTTTGGGGTG	0.473000													3	21					0	0	0.184627	0	0
OR2W5	441932	broad.mit.edu	37	1	247655316	247655316	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:247655316G>A	ENST00000522351.1	+	0	947							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGGAACAAGGATGTGAAGGG	0.517000													12	101					0	0	0.457914	0	0
CER1	9350	broad.mit.edu	37	9	14722314	14722314	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:14722314C>T	ENST00000380911.3	-	1	401	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	119					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCTCCATTTTCATTCCATCTA	0.507000													13	49					0	0	0.435327	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403167	117403167	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117403167G>A	ENST00000321322.6	-	4	763	c.762C>T	c.(760-762)tcC>tcT	p.S254S	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	194	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCGATAGGTGGAGAGGGCGT	0.552000													20	47					0	0	0.592651	0	0
XIRP2	129446	broad.mit.edu	37	2	168115072	168115072	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:168115072G>A	ENST00000409728.1	+	11	2204	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	XIRP2_ENST00000409756.2_Silent_p.E672E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Silent_p.E672E|XIRP2_ENST00000420519.1_Silent_p.E705E|XIRP2_ENST00000409605.1_Silent_p.E450E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAAGGAGAAAAATGAAA	0.348000													10	32					0	0	0.361761	0	0
LRRC43	254050	broad.mit.edu	37	12	122674873	122674873	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:122674873C>T	ENST00000339777.4	+	5	887	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	LRRC43_ENST00000425921.1_Missense_Mutation_p.P102S	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	287	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CACCGTGTCTCCCAATGAGAA	0.652000													21	56					0	0	0.639603	0	0
SAMD9	54809	broad.mit.edu	37	7	92732223	92732223	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:92732223C>T	ENST00000379958.2	-	3	3457	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1063						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTTCATTTCCTTCATCTTT	0.393000													10	51					0	0	0.387290	0	0
LRBA	987	broad.mit.edu	37	4	151231397	151231397	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:151231397G>A	ENST00000535741.1	-	52	8306	c.7833C>T	c.(7831-7833)gtC>gtT	p.V2611V	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Silent_p.V2611V|LRBA_ENST00000357115.3_Silent_p.V2622V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2622						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTAGAATAGACTCTGAAAC	0.368000													13	42					0	0	0.411799	0	0
SMAD6	4091	broad.mit.edu	37	15	67004014	67004014	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:67004014C>T	ENST00000288840.5	+	2	1857	c.826C>T	c.(826-828)Cca>Tca	p.P276S	SMAD6_ENST00000338426.4_Missense_Mutation_p.P15S|SMAD6_ENST00000457357.2_Missense_Mutation_p.P276S	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	276	Poly-Pro.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						AGAATCTCCGCCACCTCCCTA	0.542000													37	115					0	0	0.834066	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841097	18841097	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:18841097G>A	ENST00000266505.7	-	13	1780	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	PLCZ1_ENST00000539875.1_Missense_Mutation_p.S313L|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S369L|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S311L|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S504L|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S288L			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	506	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATTACTAATGAATCACCTTT	0.318000													33	102					0	0	0.827153	0	0
SDK1	221935	broad.mit.edu	37	7	4051763	4051763	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:4051763G>A	ENST00000404826.2	+	16	2455	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	SDK1_ENST00000389531.3_Silent_p.P772P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	772	Fibronectin type-III 2.				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)		GTGCTCCCCCGAAAAATATAG	0.522000													154	146					0	0	0.870114	0	0
SP100	6672	broad.mit.edu	37	2	231380004	231380004	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:231380004C>T	ENST00000264052.5	+	25	2644	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	763	Poly-Lys.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAGAAGTTCAAGGATCCCA	0.438000													19	28					0	0	0.608945	0	0
TTLL8	164714	broad.mit.edu	37	22	50471708	50471708	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:50471708G>A	ENST00000266182.6	-	10	1205	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	TTLL8_ENST00000440475.1_Silent_p.N382N					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGGTCAGGGGGTTCCAGTCCG	0.567000													5	23					0	0	0.184627	0	0
MAU2	23383	broad.mit.edu	37	19	19448065	19448065	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:19448065C>A	ENST00000392313.5	+	4	493	c.447C>A	c.(445-447)ttC>ttA	p.F149L	MAU2_ENST00000262815.8_Missense_Mutation_p.F149L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	149					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCCTGCTCTTCCAGCTCGCTG	0.602000													16	42					0.00074312	0.000749253	0.539581	1	0
ZNF573	126231	broad.mit.edu	37	19	38230520	38230520	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:38230520C>T	ENST00000339503.4	-	8	1198	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	ZNF573_ENST00000392138.1_Missense_Mutation_p.E204K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E203K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E291K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E203K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGCCCATGTTCAACAAGATTT	0.403000													12	75					0	0	0.457914	0	0
OR1N1	138883	broad.mit.edu	37	9	125289194	125289194	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125289194G>A	ENST00000304880.2	-	1	378	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TAGCAGAGGGGGTGGCAAATG	0.527000													16	37					0	0	0.520397	0	0
MALAT1	378938	broad.mit.edu	37	11	65265627	65265627	+	RNA	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:65265627T>C	ENST00000534336.1	+	0	395				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						TAAACACTTCTGGGTGTGTCC	0.478000													26	39					0	0	0.729181	0	0
TEX14	56155	broad.mit.edu	37	17	56700250	56700250	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56700250C>T	ENST00000389934.3	-	4	492	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TEX14_ENST00000349033.5_Silent_p.P125P|TEX14_ENST00000240361.8_Silent_p.P125P	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	125						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAAGTCTTCGGGTTTTGAC	0.557000													17	60					0	0	0.520397	0	0
WDR33	55339	broad.mit.edu	37	2	128467387	128467387	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:128467387G>A	ENST00000322313.4	-	19	3510	c.3352C>T	c.(3352-3354)Ccc>Tcc	p.P1118S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1118					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTCCTCTGGGGGGAGCACGG	0.537000													37	129					0	0	0.870114	0	0
OR10J5	127385	broad.mit.edu	37	1	159505253	159505253	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159505253G>A	ENST00000334857.2	-	1	589	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTCATGACTGGGTAAATGTC	0.393000													18	88					0	0	0.557998	0	0
IGF1R	3480	broad.mit.edu	37	15	99500556	99500556	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:99500556G>A	ENST00000268035.6	+	21	4600	c.3989G>A	c.(3988-3990)gGc>gAc	p.G1330D	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1329D|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1330					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AACGGCCCCGGCCCTGGGGTG	0.692000													12	31					0	0	0.479597	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696258	48696258	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48696258C>T	ENST00000352832.5	+	31	5940	c.5568C>T	c.(5566-5568)ttC>ttT	p.F1856F	CACNA1G_ENST00000429973.2_Silent_p.F1872F|CACNA1G_ENST00000515765.1_Silent_p.F1879F|CACNA1G_ENST00000507896.1_Silent_p.F1879F|CACNA1G_ENST00000515165.1_Silent_p.F1890F|CACNA1G_ENST00000514181.1_Silent_p.F1865F|CACNA1G_ENST00000514717.1_Silent_p.F1833F|CACNA1G_ENST00000513964.1_Silent_p.F1845F|CACNA1G_ENST00000513689.2_Silent_p.F1845F|CACNA1G_ENST00000442258.2_Silent_p.F1849F|CACNA1G_ENST00000503485.1_Silent_p.F1856F|CACNA1G_ENST00000507336.1_Silent_p.F1879F|CACNA1G_ENST00000507609.1_Silent_p.F1883F|CACNA1G_ENST00000512389.1_Silent_p.F1879F|CACNA1G_ENST00000514079.1_Silent_p.F1897F|CACNA1G_ENST00000502264.1_Silent_p.F1867F|CACNA1G_ENST00000360761.4_Silent_p.F1867F|CACNA1G_ENST00000354983.4_Silent_p.F1856F|CACNA1G_ENST00000507510.2_Silent_p.F1890F|CACNA1G_ENST00000510366.1_Silent_p.F1838F|CACNA1G_ENST00000359106.5_Silent_p.F1890F|CACNA1G_ENST00000510115.1_Silent_p.F1856F|CACNA1G_ENST00000515411.1_Silent_p.F1872F|CACNA1G_ENST00000505165.1_Silent_p.F1890F|CACNA1G_ENST00000358244.5_Silent_p.F1856F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1890					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGCCCCTTCCTCTGGCCTG	0.692000													3	8					0	0	0.150653	0	0
C14orf39	317761	broad.mit.edu	37	14	60951769	60951769	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:60951769C>T	ENST00000321731.3	-	2	187	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	10										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAAAGTCTGTCCAAACTGACA	0.284000													18	50					0	0	0.639603	0	0
FNIP2	57600	broad.mit.edu	37	4	159789428	159789428	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:159789428T>C	ENST00000264433.6	+	13	1715	c.1640T>C	c.(1639-1641)gTt>gCt	p.V547A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V570A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	547	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGTGACCAAGTTTTAAATGGG	0.498000													11	36					0	0	0.411799	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:77353924G>A	ENST00000282849.5	-	16	2772	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTAACTGGAGGAAACCTGCAG	0.537000													10	31					0	0	0.335167	0	0
COL21A1	81578	broad.mit.edu	37	6	55989071	55989071	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:55989071C>T	ENST00000244728.5	-	15	2067	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G557E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G554E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	557	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCAGCATTCCCCTTTTCACC	0.353000													4	12					0	0	0.184627	0	0
ATF5	22809	broad.mit.edu	37	19	50435931	50435931	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:50435931C>T	ENST00000423777.2	+	3	808	c.431C>T	c.(430-432)tCc>tTc	p.S144F	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.S144F	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	144	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCCCCTGTCCCTCCCCTCC	0.657000													3	15					0	0	0.115264	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													36	64					0	0	0.779181	0	0
CCDC60	160777	broad.mit.edu	37	12	119968748	119968748	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:119968748G>A	ENST00000327554.2	+	13	1896	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	477										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATCCTGGTGAAACTGCAGA	0.498000													27	62					0	0	0.706142	0	0
MMP11	4320	broad.mit.edu	37	22	24122860	24122860	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:24122860C>T	ENST00000215743.3	+	4	626	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	192					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGGGGATGTCCACTTCGACTA	0.567000													22	36					0	0	0.654019	0	0
NPAS4	266743	broad.mit.edu	37	11	66191958	66191958	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:66191958C>T	ENST00000311034.2	+	7	1773	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	533					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCTGACTCCTCCCAGCAC	0.612000													46	192					0	0	0.870114	0	0
IBSP	3381	broad.mit.edu	37	4	88732673	88732673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:88732673G>A	ENST00000226284.5	+	7	632	c.565G>A	c.(565-567)Ggc>Agc	p.G189S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	189					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGCAGAAAACGGCAACGGCAG	0.512000													8	39					0	0	0.278610	0	0
CSMD3	114788	broad.mit.edu	37	8	113318352	113318352	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:113318352G>A	ENST00000297405.5	-	51	8199	c.7955C>T	c.(7954-7956)aCg>aTg	p.T2652M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2582M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2548M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2612M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2652	Sushi 15.					integral to membrane|plasma membrane		p.T2652R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTCGCGTTCCTACCAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	117					0	0	0.387290	0	0
SUSD3	203328	broad.mit.edu	37	9	95846867	95846867	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:95846867G>A	ENST00000375472.3	+	5	642	c.606G>A	c.(604-606)gtG>gtA	p.V202V	SUSD3_ENST00000375469.1_Silent_p.V189V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	202						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCGCAGCGTGGACAAGGACC	0.592000													21	54					0	0	0.592651	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2275814	2275814	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:2275814G>A	ENST00000290974.2	-	9	2520	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZFYVE28_ENST00000515312.1_Silent_p.I657I|ZFYVE28_ENST00000511071.1_Silent_p.I697I|ZFYVE28_ENST00000508471.1_Silent_p.I32I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	727					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACAGGCGGTGGATGAGGTCGT	0.642000													16	50					0	0	0.557998	0	0
CSMD3	114788	broad.mit.edu	37	8	113317024	113317024	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:113317024C>T	ENST00000297405.5	-	52	8436	c.8192G>A	c.(8191-8193)gGa>gAa	p.G2731E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2661E|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2691E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2731	Sushi 16.					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						AGGACCTAGTCCATGATAACC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			81	73					0	0	0.870114	0	0
TMEM26	219623	broad.mit.edu	37	10	63170284	63170284	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:63170284G>A	ENST00000399298.3	-	6	1271	c.903C>T	c.(901-903)ctC>ctT	p.L301L	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	301						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCAAGCGGTAGAGTTGCAACA	0.517000													26	77					0	0	0.717897	0	0
PRKG2	5593	broad.mit.edu	37	4	82031727	82031727	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:82031727C>T	ENST00000395578.1	-	15	1931	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	PRKG2_ENST00000545647.1_Silent_p.Q185Q|PRKG2_ENST00000418486.2_Silent_p.Q576Q|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.Q605Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	605	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCATGTTTTCTGTCCAGACC	0.418000													17	47					0	0	0.608945	0	0
MICALCL	84953	broad.mit.edu	37	11	12315604	12315604	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:12315604G>A	ENST00000256186.2	+	3	917	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	209					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCTGGGGAGCGAATTTCCCAG	0.557000													29	74					0	0	0.750413	0	0
KERA	11081	broad.mit.edu	37	12	91449902	91449902	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:91449902G>A	ENST00000266719.3	-	2	404	c.157C>T	c.(157-159)Cct>Tct	p.P53S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	53	Cys-rich.|LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAAGCAGTAGGAAAACTGGGT	0.383000													13	61					0	0	0.457914	0	0
NEXN	91624	broad.mit.edu	37	1	78383316	78383316	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:78383316A>G	ENST00000334785.7	+	3	277	c.93A>G	c.(91-93)gtA>gtG	p.V31V	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000457030.1_Silent_p.V31V|NEXN_ENST00000294624.8_Silent_p.V31V	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	31					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGGTGATGTAAAGGATAAGT	0.343000													10	41					0	0	0.387290	0	0
UGT2A1	10941	broad.mit.edu	37	4	70464999	70464999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:70464999C>T	ENST00000503640.1	-	2	884	c.829G>A	c.(829-831)Gga>Aga	p.G277R	UGT2A1_ENST00000512704.1_Missense_Mutation_p.G277R|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G487R|UGT2A2_ENST00000457664.2_Missense_Mutation_p.G286R|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G321R|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	277					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAGTGCAATCCTCCAACAAAC	0.353000													5	27					0	0	0.184627	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973959	69973959	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:69973959G>A	ENST00000305231.7	+	5	1275	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	410					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCCAGGGGAGCAGCTGTT	0.448000													43	186					0	0	0.864702	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595192	140595192	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140595192C>T	ENST00000341948.4	+	1	1684	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACCTGCCCCTCACATCCC	0.672000													52	101					0	0	0.870114	0	0
DNAH11	8701	broad.mit.edu	37	7	21603884	21603884	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:21603884C>T	ENST00000328843.6	+	6	1094	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P355S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	355	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACGGAATTCCCACAGACACG	0.448000									Kartagener syndrome				40	37					0	0	0.847076	0	0
GPLD1	2822	broad.mit.edu	37	6	24467156	24467156	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:24467156A>C	ENST00000230036.1	-	9	775	c.665T>G	c.(664-666)aTg>aGg	p.M222R	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	222						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						AACAGCTAGCATCTCACCATA	0.338000													10	60					0	0	0.435327	0	0
STK24	8428	broad.mit.edu	37	13	99127538	99127538	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:99127538G>A	ENST00000397517.2	-	4	481	c.405C>T	c.(403-405)ctC>ctT	p.L135L	STK24_ENST00000376547.3_Silent_p.L147L|STK24_ENST00000539966.1_Silent_p.L116L	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	147	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTCCGAATGGAGATAATCGA	0.393000													15	48					0	0	0.557998	0	0
ABO	28	broad.mit.edu	37	9	136131230	136131230	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:136131230G>A	ENST00000453660.2	-	0	898							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		ACACGGCCTCGATGCCGTTGG	0.647000													18	43					0	0	0.608945	0	0
TNKS2	80351	broad.mit.edu	37	10	93590705	93590705	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:93590705C>T	ENST00000371627.4	+	10	1509	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	377					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTCCATATCCCAAAAGAAAG	0.303000													8	20					0	0	0.335167	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334210	77334210	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:77334210T>C	ENST00000477717.1	+	2	279	c.44T>C	c.(43-45)cTc>cCc	p.L15P	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	15					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TGTTTAGCGCTCACCACCATG	0.677000													12	52					0	0	0.435327	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830917	13830917	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:13830917G>A	ENST00000284951.5	-	19	1941	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.P510S			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	623						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGGGCATCTGGACTCGTTTGA	0.453000													30	96					0	0	0.788014	0	0
FCRL6	343413	broad.mit.edu	37	1	159784034	159784034	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159784034G>A	ENST00000321935.6	+	9	1206	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	FCRL6_ENST00000392235.3_Missense_Mutation_p.E272K|FCRL6_ENST00000368106.3_Missense_Mutation_p.E367K|FCRL6_ENST00000339348.5_Missense_Mutation_p.E367K			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	367						integral to membrane				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)					AGGGAAAGATGAAGGTGTTGT	0.463000													47	53					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:75065508C>T	ENST00000326665.5	-	11	1815	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D336N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	533	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTTTATCATCCAAAGGT	0.398000													21	136					0	0	0.624587	0	0
SORT1	6272	broad.mit.edu	37	1	109870131	109870131	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:109870131G>A	ENST00000256637.6	-	12	1522	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	SORT1_ENST00000538502.1_Silent_p.V351V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	488					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATGAGCAATGACAATGCCTA	0.502000													10	41					0	0	0.361761	0	0
TEK	7010	broad.mit.edu	37	9	27192519	27192519	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:27192519G>A	ENST00000380036.4	+	11	1964	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	TEK_ENST00000519097.1_Missense_Mutation_p.E361K|TEK_ENST00000406359.4_Missense_Mutation_p.E465K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	508	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAACTATTTGGAACCTCGGAC	0.473000													37	110					0	0	0.827153	0	0
OR51I1	390063	broad.mit.edu	37	11	5461833	5461833	+	Silent	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5461833C>A	ENST00000380211.1	-	1	911	c.912G>T	c.(910-912)ggG>ggT	p.G304G	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTGAGAATCCCTTTGCGGA	0.463000													21	75					1.1804e-14	1.20338e-14	0.667858	1	0
DISP2	85455	broad.mit.edu	37	15	40661750	40661750	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40661750G>A	ENST00000267889.3	+	8	3524	c.3437G>A	c.(3436-3438)cGc>cAc	p.R1146H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1146					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AAGGCAGGCCGCCCACGACCA	0.652000													3	63					0	0	0.115264	0	0
MTMR9	66036	broad.mit.edu	37	8	11162452	11162452	+	Missense_Mutation	SNP	C	C	T	rs144999294		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:11162452C>T	ENST00000221086.3	+	4	993	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MTMR9_ENST00000526292.1_Missense_Mutation_p.R89W	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	174	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.R174W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TGAAGCTCTTCGGAAGGTAGC	0.453000													34	130					0	0	0.870114	0	0
DALRD3	55152	broad.mit.edu	37	3	49053042	49053042	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:49053042G>A	ENST00000313778.5	-	12	1851	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000441576.2_3'UTR|DALRD3_ENST00000440857.1_3'UTR|DALRD3_ENST00000395462.4_Silent_p.L370L|DALRD3_ENST00000341949.4_Silent_p.L537L	NM_018114.4	NP_060584.3	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	537					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCAGTGGAGGGAGACCCAGCA	0.522000													36	76					0	0	0.853193	0	0
FAM227B	196951	broad.mit.edu	37	15	49860462	49860462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:49860462G>A	ENST00000299338.6	-	9	1030	c.727C>T	c.(727-729)Cga>Tga	p.R243*	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GCATCCTTTCGACTTAGAGGT	0.289000													13	49					0	0	0.500413	0	0
VWA8	23078	broad.mit.edu	37	13	42263510	42263510	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:42263510C>T	ENST00000379310.3	-	34	4179	c.4111G>A	c.(4111-4113)Gtt>Att	p.V1371I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGAAAACCAACAACTATTGTA	0.363000													11	44					0	0	0.411799	0	0
PTPRK	5796	broad.mit.edu	37	6	128505661	128505661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:128505661C>T	ENST00000368227.3	-	7	1444	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	PTPRK_ENST00000368215.3_Missense_Mutation_p.E360K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E360K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E360K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.E360K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E360K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E360K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	360	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTCGGATCTCATATTCGGTA	0.458000													41	127					0	0	0.864702	0	0
FOCAD	54914	broad.mit.edu	37	9	20953018	20953018	+	Silent	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:20953018T>C	ENST00000380249.1	+	37	4450	c.4086T>C	c.(4084-4086)agT>agC	p.S1362S	FOCAD_ENST00000338382.6_Silent_p.S1362S|FOCAD_ENST00000605086.1_Silent_p.S798S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1362						integral to membrane	binding										CTGAAAGCAGTTTTATTGGAG	0.368000													21	38					0	0	0.639603	0	0
ASTN2	23245	broad.mit.edu	37	9	119903705	119903705	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:119903705C>T	ENST00000313400.4	-	4	1168	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.K356K			O75129	ASTN2_HUMAN	astrotactin 2	356						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGAAACTCTCCTTGAACTTCT	0.592000													7	37					0	0	0.307466	0	0
FLNC	2318	broad.mit.edu	37	7	128491542	128491542	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:128491542A>C	ENST00000325888.8	+	35	5963	c.5702A>C	c.(5701-5703)aAg>aCg	p.K1901T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.K1868T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1901					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCCATCCAAGGCAGAGATC	0.612000													17	162					0	0	0.539581	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400858	11400858	+	Missense_Mutation	SNP	G	G	A	rs149248520		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:11400858G>A	ENST00000002596.5	-	2	1946	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	258						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCGCTGTCCCGCAGGCAGTAA	0.512000													13	48					0	0	0.457914	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:106523501G>A	ENST00000359195.3	+	8	2963	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A885T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A885T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	885	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGAAAGACGCCACGACAAT	0.478000													9	417					0	0	0.361761	0	0
RBP3	5949	broad.mit.edu	37	10	48390152	48390152	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:48390152G>A	ENST00000224600.4	-	1	839	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	242	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGATGTGCGCGATGTCCTCGG	0.647000													19	21					0	0	0.575678	0	0
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:41228901G>A	ENST00000249749.5	+	9	1992	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	572					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587000													12	50					0	0	0.435327	0	0
ZNF331	55422	broad.mit.edu	37	19	54080033	54080033	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:54080033T>A	ENST00000253144.9	+	7	1552	c.219T>A	c.(217-219)gaT>gaA	p.D73E	ZNF331_ENST00000411977.2_Missense_Mutation_p.D73E|ZNF331_ENST00000511593.2_Missense_Mutation_p.D73E|ZNF331_ENST00000513999.1_Missense_Mutation_p.D73E|ZNF331_ENST00000513265.1_Missense_Mutation_p.D73E|ZNF331_ENST00000511154.1_Missense_Mutation_p.D73E|ZNF331_ENST00000512387.1_Missense_Mutation_p.D73E|ZNF331_ENST00000449416.1_Missense_Mutation_p.D73E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGAATTCAGATAGAAGAAGTA	0.383000			T	?	follicular thyroid adenoma								14	31					0	0	0.479597	0	0
OR5T1	390155	broad.mit.edu	37	11	56043854	56043854	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56043854G>A	ENST00000313033.2	+	1	826	c.740G>A	c.(739-741)aGa>aAa	p.R247K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GAAGGGAGGAGAAAAGTCTTC	0.438000													49	138					0	0	0.870114	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377523	138377523	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:138377523C>T	ENST00000356818.2	+	4	1716	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	PPP1R26_ENST00000605286.1_Silent_p.P389P|PPP1R26_ENST00000604351.1_Silent_p.P389P|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.P389P|PPP1R26_ENST00000605660.1_Silent_p.P389P	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	389						nucleolus	protein binding										GGGACCTGCCCCAGAGGGTCC	0.627000													8	25					0	0	0.361761	0	0
INPPL1	3636	broad.mit.edu	37	11	71942228	71942228	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:71942228C>T	ENST00000541756.1	+	12	1696	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	INPPL1_ENST00000538751.1_Missense_Mutation_p.R256C|INPPL1_ENST00000298229.2_Missense_Mutation_p.R498C			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	498					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.R498S(1)		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						TCTGGATTACCGCCCGGTGAG	0.597000													39	82					0	0	0.859065	0	0
ATN1	1822	broad.mit.edu	37	12	7046114	7046114	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:7046114G>A	ENST00000356654.4	+	5	1921	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	ATN1_ENST00000396684.2_Missense_Mutation_p.G562S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	562	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGCCAAGCAGGCCCCAATGG	0.627000													19	62					0	0	0.624587	0	0
CLCN1	1180	broad.mit.edu	37	7	143027865	143027865	+	Splice_Site	SNP	G	G	A	rs150885084		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:143027865G>A	ENST00000343257.2	+	8	941	c.853_splice	c.e8-1	p.G285_splice	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	285			G -> E (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCCCTGCAGGAGTGCTATTT	0.537000													26	100					0	0	0.706142	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911032	100911032	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:100911032G>A	ENST00000328766.5	-	5	1996	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	ARMCX2_ENST00000330154.2_Missense_Mutation_p.R515C|ARMCX2_ENST00000356824.4_Missense_Mutation_p.R515C	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	515						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GATAGCAAACGGAAAAAGTTT	0.363000													40	57					0	0	0.859065	0	0
CELSR3	1951	broad.mit.edu	37	3	48680281	48680281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:48680281C>A	ENST00000544264.1	-	31	8738	c.8458G>T	c.(8458-8460)Gag>Tag	p.E2820*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.E2815*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2815					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCCACTCTCCTCAAAGAGA	0.642000													18	48					8.10497e-08	8.21707e-08	0.592651	1	0
TBPL1	9519	broad.mit.edu	37	6	134303966	134303966	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:134303966C>T	ENST00000237264.4	+	4	505	c.230C>T	c.(229-231)gCt>gTt	p.A77V	TBPL1_ENST00000477527.1_3'UTR|TBPL1_ENST00000367871.1_Missense_Mutation_p.A77V	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	77					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GAAGAAGAAGCTAAATTTGGT	0.328000													7	43					0	0	0.278610	0	0
MYH2	4620	broad.mit.edu	37	17	10450905	10450905	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:10450905G>A	ENST00000245503.5	-	4	619	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	MYH2_ENST00000397183.2_Missense_Mutation_p.P79S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.P79S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	79	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGTTCATGGGGAAGACCTGA	0.418000													47	173					0	0	0.870114	0	0
SEPHS1	22929	broad.mit.edu	37	10	13386801	13386801	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:13386801G>A	ENST00000327347.5	-	2	525	c.150C>T	c.(148-150)ttC>ttT	p.F50F	SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000545675.1_Silent_p.F50F|SEPHS1_ENST00000378614.4_Silent_p.F50F|SEPHS1_ENST00000537130.1_Intron	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	50					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CATCTTCTTGGAAGTGGTTCT	0.483000													49	133					0	0	0.870114	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666334	45666334	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45666334G>A	ENST00000270172.3	-	12	1593	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	DNMT3L_ENST00000418993.1_Silent_p.L369L	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	369					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCTTAGGGGGAGAAAGCAGT	0.448000													9	48					0	0	0.335167	0	0
ZNF808	388558	broad.mit.edu	37	19	53058286	53058286	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:53058286C>T	ENST00000359798.4	+	5	2297	c.2117C>T	c.(2116-2118)cCt>cTt	p.P706L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGAATGAAACCTTACAAGTGT	0.413000													42	236					0	0	0.853193	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	G	A	rs146325339	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:55179098G>A	ENST00000391736.1	+	13	1369	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_ENST00000391733.3_Missense_Mutation_p.D353N|LILRB4_ENST00000430952.2_Missense_Mutation_p.D351N|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.D352N	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000													9	63					0	0	0.387290	0	0
FAM47A	158724	broad.mit.edu	37	X	34148922	34148922	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:34148922G>A	ENST00000346193.3	-	1	1525	c.1474C>T	c.(1474-1476)Cac>Tac	p.H492Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	492										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTGCGAGTGGAGACTGGAC	0.637000													21	23					0	0	0.654019	0	0
ZNF646	9726	broad.mit.edu	37	16	31091383	31091383	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31091383G>A	ENST00000394979.2	+	1	4161	c.3738G>A	c.(3736-3738)aaG>aaA	p.K1246K	ZNF646_ENST00000300850.5_Silent_p.K1246K			O15015	ZN646_HUMAN	zinc finger protein 646	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTCCCTCAAGAACCACCGGC	0.647000													15	40					0	0	0.500413	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:158323823G>A	ENST00000444681.2	+	1	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_ENST00000452291.2_Silent_p.G15G|CD1E_ENST00000368165.3_Silent_p.G15G|CD1E_ENST00000368160.3_Silent_p.G15G|CD1E_ENST00000368164.3_Silent_p.G15G|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368157.1_Silent_p.G15G|CD1E_ENST00000368156.1_Silent_p.G15G|CD1E_ENST00000368166.3_Silent_p.G15G|CD1E_ENST00000368167.3_Silent_p.G15G|CD1E_ENST00000368155.3_Silent_p.G15G|CD1E_ENST00000368154.1_Silent_p.G15G|CD1E_ENST00000368163.3_Silent_p.G15G|CD1E_ENST00000368161.3_Silent_p.G15G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	15			G -> E (in dbSNP:rs3180089).		antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTGGGGAAAATACAG	0.542000													30	43					0	0	0.740014	0	0
DCC	1630	broad.mit.edu	37	18	50589813	50589813	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:50589813A>T	ENST00000442544.2	+	6	1740	c.1124A>T	c.(1123-1125)gAt>gTt	p.D375V	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.D223V|DCC_ENST00000581580.1_Missense_Mutation_p.D30V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	375	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTCCTAGTGATTATTTTCAG	0.313000													26	79					0	0	0.681144	0	0
OR13C8	138802	broad.mit.edu	37	9	107331891	107331891	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:107331891C>T	ENST00000335040.1	+	1	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCAGCTGGGTCCTGGGTCACT	0.493000													26	54					0	0	0.729181	0	0
ZNF684	127396	broad.mit.edu	37	1	41012517	41012517	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:41012517C>T	ENST00000372699.3	+	5	773	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGTTTCATTTCATTAGACATG	0.338000													6	18					0	0	0.248553	0	0
HCRTR1	3061	broad.mit.edu	37	1	32085235	32085235	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:32085235C>T	ENST00000403528.2	+	4	687	c.302C>T	c.(301-303)cCg>cTg	p.P101L	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Missense_Mutation_p.P101L|HCRTR1_ENST00000373706.5_Missense_Mutation_p.P101L	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	101					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		ATCTGCCTGCCGGCCAGCCTG	0.602000													9	19					0	0	0.307466	0	0
FBXO43	286151	broad.mit.edu	37	8	101154218	101154218	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:101154218A>T	ENST00000428847.2	-	2	580	c.264T>A	c.(262-264)aaT>aaA	p.N88K		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	88					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTATCTATATTATCAAAGC	0.368000													9	46					0	0	0.307466	0	0
MYH14	79784	broad.mit.edu	37	19	50779322	50779322	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:50779322C>T	ENST00000440075.2	+	28	3589	c.3542C>T	c.(3541-3543)gCc>gTc	p.A1181V	MYH14_ENST00000425460.1_Missense_Mutation_p.A1148V|MYH14_ENST00000598205.1_Missense_Mutation_p.A1148V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1181V|MYH14_ENST00000376970.2_Missense_Mutation_p.A1173V|MYH14_ENST00000596571.1_Missense_Mutation_p.A1140V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1181V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1140					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGCCGAGGCCCAGGAGGAC	0.701000													4	12					0	0	0.150653	0	0
LRP2	4036	broad.mit.edu	37	2	170003352	170003352	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:170003352G>A	ENST00000263816.3	-	69	12993	c.12708C>T	c.(12706-12708)atC>atT	p.I4236I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4236					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAAATAATCGATAGAAAGGC	0.453000													28	74					0	0	0.750413	0	0
ZFX	7543	broad.mit.edu	37	X	24229353	24229353	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:24229353T>G	ENST00000379177.1	+	11	2705	c.2278T>G	c.(2278-2280)Tca>Gca	p.S760A	ZFX_ENST00000539115.1_Missense_Mutation_p.S531A|ZFX_ENST00000379188.3_Missense_Mutation_p.S760A|ZFX_ENST00000338565.3_Missense_Mutation_p.S710A|ZFX_ENST00000304543.5_Missense_Mutation_p.S760A|ZFX_ENST00000540034.1_Missense_Mutation_p.S799A	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TACAGATGCCTCAGGCTTTAA	0.448000													64	79					0	0	0.870114	0	0
CDH13	1012	broad.mit.edu	37	16	83520203	83520203	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:83520203C>T	ENST00000566620.1	+	7	1193	c.903C>T	c.(901-903)atC>atT	p.I301I	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.I348I|CDH13_ENST00000428848.3_Silent_p.I262I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	301	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTTCTACATCGATCCTGAGA	0.488000													23	57					0	0	0.693898	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691761	106691761	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:106691761G>A	ENST00000390607.2	-	0	341																											TCTGGAGATGGTGAATCGGCC	0.527000													69	187					0	0	0.870114	0	0
OOSP2	219990	broad.mit.edu	37	11	59812219	59812219	+	Missense_Mutation	SNP	G	G	A	rs140171460		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:59812219G>A	ENST00000278855.2	+	3	504	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	PLAC1L_ENST00000532905.1_Missense_Mutation_p.E76K	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		107						extracellular region		p.E107K(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGACCCTCAGGAAATCCATTT	0.423000													24	62					0	0	0.717897	0	0
ZNF438	220929	broad.mit.edu	37	10	31137987	31137987	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:31137987G>A	ENST00000538351.1	-	7	1954	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	ZNF438_ENST00000442986.1_Silent_p.S449S|ZNF438_ENST00000436087.2_Silent_p.S449S|ZNF438_ENST00000452305.1_Silent_p.S439S|ZNF438_ENST00000444692.2_Silent_p.S439S|ZNF438_ENST00000331737.6_Silent_p.S439S|ZNF438_ENST00000361310.3_Silent_p.S449S|ZNF438_ENST00000413025.1_Silent_p.S449S|ZNF438_ENST00000375311.1_Silent_p.S13S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAGAAGCCAGGGAGGCCAAAG	0.453000													16	34					0	0	0.539581	0	0
ACTC1	70	broad.mit.edu	37	15	35085547	35085547	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:35085547C>T	ENST00000290378.4	-	3	1008	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	118					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCTTCTCCCGGTTGGCCTT	0.577000													25	99					0	0	0.693898	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837320	40837320	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:40837320C>T	ENST00000264638.4	+	5	814	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	199					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGACGTGTTCGCCTTCAGCT	0.647000													13	47					0	0	0.457914	0	0
ESPNL	339768	broad.mit.edu	37	2	239037370	239037370	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:239037370G>A	ENST00000343063.3	+	8	1501	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	ESPNL_ENST00000409506.1_Missense_Mutation_p.G45E|ESPNL_ENST00000409169.1_Missense_Mutation_p.G369E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	413										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCGCTGGCGGGGGACACCTCA	0.697000													5	2					0	0	0.217242	0	0
C2CD3	26005	broad.mit.edu	37	11	73849826	73849826	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:73849826C>T	ENST00000334126.7	-	5	1120	c.894G>A	c.(892-894)aaG>aaA	p.K298K	C2CD3_ENST00000313663.7_Silent_p.K298K|C2CD3_ENST00000539061.1_Silent_p.K298K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	298						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACTGTGACTCTTGGCAACTG	0.428000													40	84					0	0	0.859065	0	0
CUZD1	50624	broad.mit.edu	37	10	124591832	124591832	+	Missense_Mutation	SNP	G	G	A	rs139868556	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:124591832G>A	ENST00000368904.1	-	11	2735	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	CUZD1_ENST00000545804.1_Missense_Mutation_p.R596W|CUZD1_ENST00000392790.1_Missense_Mutation_p.R596W			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	596					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TAGTCTGCCCGTTGATTTACA	0.443000													46	187					0	0	0.870114	0	0
OR52K2	119774	broad.mit.edu	37	11	4470744	4470744	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:4470744G>A	ENST00000325719.4	+	1	220	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCTCCATGAACCCATGTA	0.527000													49	141					0	0	0.870114	0	0
A1CF	29974	broad.mit.edu	37	10	52573681	52573681	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:52573681C>T	ENST00000395489.2	-	12	1658	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000282641.2_Missense_Mutation_p.G428E|A1CF_ENST00000373993.1_Missense_Mutation_p.G428E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.G420E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E|A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAGCTCCATCCCAGGTAAAAT	0.463000													30	91					0	0	0.796494	0	0
OR6A2	8590	broad.mit.edu	37	11	6816727	6816727	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:6816727C>T	ENST00000332601.3	-	1	401	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATACCAGATCTCCAGAAAGG	0.438000													28	76					0	0	0.717897	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139342	93139342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:93139342G>A	ENST00000344636.3	+	5	474	c.290G>A	c.(289-291)aGa>aAa	p.R97K	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.R97K	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	97	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTGAGGCAGAGAGATGACTTT	0.388000													31	98					0	0	0.779181	0	0
SDK1	221935	broad.mit.edu	37	7	4056981	4056981	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:4056981G>A	ENST00000404826.2	+	17	2738	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SDK1_ENST00000389531.3_Missense_Mutation_p.G867R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	867					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)		CACCTTGCAGGGAGGTAAGCT	0.537000													22	18					0	0	0.608945	0	0
VPS13A	23230	broad.mit.edu	37	9	79946935	79946935	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:79946935C>T	ENST00000360280.3	+	46	6261	c.6001C>T	c.(6001-6003)Cat>Tat	p.H2001Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.H1962Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.H2001Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.H2001Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2001					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATAAGAAATCATTTTTCAGT	0.313000													39	114					0	0	0.864702	0	0
A1CF	29974	broad.mit.edu	37	10	52575901	52575901	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:52575901C>T	ENST00000395489.2	-	11	1381	c.985G>A	c.(985-987)Gat>Aat	p.D329N	A1CF_ENST00000373995.3_Missense_Mutation_p.D344N|A1CF_ENST00000282641.2_Missense_Mutation_p.D336N|A1CF_ENST00000373993.1_Missense_Mutation_p.D336N|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.D336N|A1CF_ENST00000373997.3_Missense_Mutation_p.D336N|A1CF_ENST00000395495.1_Missense_Mutation_p.D281N|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	336					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTGGTGGGATCATAAACTTGG	0.517000													11	46					0	0	0.411799	0	0
SMC5	23137	broad.mit.edu	37	9	72893539	72893539	+	Missense_Mutation	SNP	G	G	A	rs141003657	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:72893539G>A	ENST00000361138.5	+	5	734	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	226					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAACAGCTCGAGGTACTTTA	0.358000													12	38					0	0	0.435327	0	0
AHSG	197	broad.mit.edu	37	3	186330964	186330964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:186330964C>T	ENST00000411641.2	+	1	253	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	AHSG_ENST00000273784.5_Nonsense_Mutation_p.Q12*			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	12					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TTGTCTTGCTCAGCTCTGGGG	0.602000													12	30					0	0	0.435327	0	0
USP54	159195	broad.mit.edu	37	10	75276256	75276256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75276256G>A	ENST00000339859.4	-	19	4028	c.3928C>T	c.(3928-3930)Caa>Taa	p.Q1310*	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Nonsense_Mutation_p.Q492*|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Nonsense_Mutation_p.Q1160*|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Nonsense_Mutation_p.Q1310*|USP54_ENST00000394811.2_Nonsense_Mutation_p.Q398*			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1310					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCTGTGTCTTGGTTCCAATGT	0.522000													15	65					0	0	0.520397	0	0
PRG3	10394	broad.mit.edu	37	11	57147034	57147034	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:57147034C>T	ENST00000287143.2	-	3	417	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	103					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTGGACTTCCCTGCACTTC	0.527000													26	76					0	0	0.706142	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559455	129559455	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:129559455G>A	ENST00000422113.2	-	9	2591	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	TMEM132D_ENST00000389441.4_Silent_p.I293I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	755						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGCAGCAATGATAGGCCACT	0.473000													27	81					0	0	0.693898	0	0
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:179620128G>A	ENST00000444136.1	+	12	2177	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E643K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E643K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413000													64	82					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149492425	149492425	+	RNA	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:149492425A>G	ENST00000378016.2	+	0	6314							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)			CCCAGCCCTCAGGGATGGCAC	0.662000													24	14					0	0	0.624587	0	0
PKM	5315	broad.mit.edu	37	15	72511404	72511404	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:72511404A>T	ENST00000319622.6	-	2	491	c.35T>A	c.(34-36)tTc>tAc	p.F12Y	PKM_ENST00000389093.3_Missense_Mutation_p.F12Y|PKM_ENST00000565154.1_Missense_Mutation_p.F12Y|PKM_ENST00000565184.1_Missense_Mutation_p.F12Y|PKM_ENST00000335181.5_Missense_Mutation_p.F12Y|PKM_ENST00000568883.1_Missense_Mutation_p.F12Y|PKM_ENST00000568459.1_Missense_Mutation_p.F12Y|PKM_ENST00000449901.2_Missense_Mutation_p.S28T	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						GGTCTGAATGAAGGCAGTCCC	0.537000													22	70					0	0	0.639603	0	0
PLCB2	5330	broad.mit.edu	37	15	40594798	40594798	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40594798G>A	ENST00000260402.3	-	4	493	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	PLCB2_ENST00000543785.2_Missense_Mutation_p.R82W|PLCB2_ENST00000456256.2_Missense_Mutation_p.R82W|PLCB2_ENST00000557821.1_Missense_Mutation_p.R82W	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	82					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AAGACGTCCCGGAGCTTCTGG	0.587000													11	37					0	0	0.411799	0	0
CHDC2	286464	broad.mit.edu	37	X	36117968	36117968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:36117968G>A	ENST00000378660.1	+	7	1012	c.824G>A	c.(823-825)tGg>tAg	p.W275*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.W275*					calponin homology domain containing 2																		AAACGGGCATGGACAGATGTA	0.333000													17	27					0	0	0.575678	0	0
BMP3	651	broad.mit.edu	37	4	81967008	81967008	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:81967008A>C	ENST00000282701.2	+	2	753	c.433A>C	c.(433-435)Agt>Cgt	p.S145R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	145					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CATCAGCCTGAGTTGTCCAGT	0.433000													14	71					0	0	0.479597	0	0
BSND	7809	broad.mit.edu	37	1	55474256	55474256	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:55474256C>T	ENST00000371265.4	+	4	1172	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	306						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCGGGGACCTCCTCCCGGACA	0.577000													13	65					0	0	0.479597	0	0
SPRY1	10252	broad.mit.edu	37	4	124323559	124323559	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:124323559C>T	ENST00000394339.2	+	2	1153	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SPRY1_ENST00000339241.1_Silent_p.L271L	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	271	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTTGCTTACTCTGTTATCCTC	0.458000													24	75					0	0	0.639603	0	0
TRERF1	55809	broad.mit.edu	37	6	42233525	42233525	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:42233525G>A	ENST00000541110.1	-	6	2016	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	TRERF1_ENST00000340840.2_Missense_Mutation_p.P483L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P483L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P483L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P483L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	483	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCCATCAGGTAGGTGCAT	0.502000													8	37					0	0	0.387290	0	0
RECK	8434	broad.mit.edu	37	9	36087794	36087794	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:36087794C>T	ENST00000377966.3	+	9	1307	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	247	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGGTCTCATCGAGGGTTGTA	0.468000													24	45					0	0	0.681144	0	0
PCLO	27445	broad.mit.edu	37	7	82585618	82585618	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:82585618C>T	ENST00000423517.2	-	5	4988	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1551K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTCCTCTTCCCCTGATCCT	0.413000													16	47					0	0	0.539581	0	0
KCNB2	9312	broad.mit.edu	37	8	73849559	73849559	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:73849559G>A	ENST00000523207.1	+	3	2557	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	657			E -> G (in dbSNP:rs16938507).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTATCCAGAGAGAAAGGACC	0.577000													34	43					0	0	0.788014	0	0
ACTG2	72	broad.mit.edu	37	2	74128495	74128495	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:74128495G>A	ENST00000409624.1	+	3	700	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ACTG2_ENST00000409731.3_Silent_p.K19K|ACTG2_ENST00000409918.1_Silent_p.K19K|ACTG2_ENST00000345517.3_Silent_p.K19K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	19					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GCCTGTGCAAGGCAGGCTTCG	0.622000													13	42					0	0	0.435327	0	0
SLIT2	9353	broad.mit.edu	37	4	20493417	20493417	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:20493417T>C	ENST00000504154.1	+	9	1061	c.809T>C	c.(808-810)gTt>gCt	p.V270A	SLIT2_ENST00000503837.1_Missense_Mutation_p.V274A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V270A|SLIT2_ENST00000273739.5_Missense_Mutation_p.V274A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	270	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTGTAGTGTTTTGCACTGC	0.413000													19	103					0	0	0.624587	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229736	87229736	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:87229736C>T	ENST00000297524.3	-	3	1245	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R372Q	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	381						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTGGTATCTCCGCCTTAGTAT	0.289000													5	53					0	0	0.184627	0	0
DNAH11	8701	broad.mit.edu	37	7	21805148	21805148	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:21805148C>T	ENST00000328843.6	+	56	9095	c.9064C>T	c.(9064-9066)Ccg>Tcg	p.P3022S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P3015S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3022	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATGCGTGGCCGCAGGAGGC	0.532000									Kartagener syndrome				48	49					0	0	0.870114	0	0
WDR66	144406	broad.mit.edu	37	12	122437850	122437850	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:122437850G>A	ENST00000288912.4	+	20	4089	c.3235_splice	c.e20+1	p.G1079_splice		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1079							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CGTTACTAAAGGTAAGCACAT	0.502000													20	31					0	0	0.608945	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530692	5530692	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5530692C>T	ENST00000311659.4	-	2	244	c.97G>A	c.(97-99)Gag>Aag	p.E33K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	33	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAATCCTCCTTGTCTTTG	0.537000													26	94					0	0	0.729181	0	0
RAB5C	5878	broad.mit.edu	37	17	40282417	40282417	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:40282417G>A	ENST00000393860.3	-	3	420	c.104C>T	c.(103-105)tCc>tTc	p.S35F	RAB5C_ENST00000346213.4_Missense_Mutation_p.S35F|RAB5C_ENST00000547517.1_Missense_Mutation_p.S68F|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.S35F	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	35					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GACGAGGCTGGATTTGCCTAC	0.597000													36	57					0	0	0.827153	0	0
MSL3	10943	broad.mit.edu	37	X	11782026	11782026	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:11782026C>T	ENST00000337339.2	+	8	904	c.877C>T	c.(877-879)Cca>Tca	p.P293S	MSL3_ENST00000380693.3_Missense_Mutation_p.P127S|MSL3_ENST00000312196.4_Missense_Mutation_p.P293S|MSL3_ENST00000398527.2_Missense_Mutation_p.P281S|MSL3_ENST00000361672.2_Missense_Mutation_p.P144S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	293					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ATTTTTTCTTCCAATTAAGGA	0.373000													17	13					0	0	0.520397	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379833	61379833	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:61379833G>A	ENST00000544088.1	+	0	325				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCCGAGTTTGGTGTCTAATTC	0.413000													7	56					0	0	0.278610	0	0
BUB1B	701	broad.mit.edu	37	15	40476069	40476069	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40476069G>A	ENST00000287598.6	+	6	931	c.736G>A	c.(736-738)Gga>Aga	p.G246R	BUB1B_ENST00000412359.3_Missense_Mutation_p.G260R	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	246					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)		CATCCGTGTAGGAGGTGCTCT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				14	38					0	0	0.500413	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502394	220502394	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:220502394C>T	ENST00000358055.3	+	17	3139	c.2627C>T	c.(2626-2628)gCc>gTc	p.A876V	SLC4A3_ENST00000373762.3_Missense_Mutation_p.A903V|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A876V|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A876V|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A903V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	876	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGGCAGTGCCCTGCCCCCC	0.642000													9	21					0	0	0.335167	0	0
AFF1	4299	broad.mit.edu	37	4	88053460	88053460	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:88053460C>T	ENST00000307808.6	+	18	3610	c.3190C>T	c.(3190-3192)Cgt>Tgt	p.R1064C	AFF1_ENST00000395146.4_Missense_Mutation_p.R1071C|AFF1_ENST00000544085.1_Missense_Mutation_p.R702C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1064						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGCGATGTTTCGTTGTAAAAA	0.413000													12	41					0	0	0.411799	0	0
TRIB1	10221	broad.mit.edu	37	8	126448443	126448443	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:126448443C>T	ENST00000311922.3	+	3	1431	c.849C>T	c.(847-849)ccC>ccT	p.P283P	TRIB1_ENST00000520847.1_Silent_p.P117P|TRIB1_ENST00000519576.1_Silent_p.P52P	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	283	Protein kinase.				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)			GACGATACCCCTTCCATGACT	0.567000													63	46					0	0	0.870114	0	0
C9orf135	138255	broad.mit.edu	37	9	72435858	72435858	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:72435858C>T	ENST00000377197.3	+	1	150	c.63C>T	c.(61-63)atC>atT	p.I21I	C9orf135_ENST00000527647.1_Silent_p.I21I|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	21						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GGTTGGAGATCGGACCACCGG	0.577000													16	39					0	0	0.500413	0	0
XIRP2	129446	broad.mit.edu	37	2	168105435	168105435	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:168105435G>A	ENST00000409195.1	+	9	7622	c.7533G>A	c.(7531-7533)agG>agA	p.R2511R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R2511R|XIRP2_ENST00000409273.1_Silent_p.R2289R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2336					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCACCCAGGAAAAAACAGA	0.358000													18	82					0	0	0.575678	0	0
GTDC1	79712	broad.mit.edu	37	2	144710343	144710343	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:144710343G>A	ENST00000409214.1	-	10	1476	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	GTDC1_ENST00000409298.1_Missense_Mutation_p.P282S|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392867.3_Missense_Mutation_p.P315S|GTDC1_ENST00000344850.4_Missense_Mutation_p.P400S|GTDC1_ENST00000392869.1_Missense_Mutation_p.P400S|GTDC1_ENST00000542155.1_Missense_Mutation_p.P400S|GTDC1_ENST00000241391.5_Missense_Mutation_p.P315S|GTDC1_ENST00000463875.2_Missense_Mutation_p.P271S	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	400					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAGCTACCTGGAAATATTTCG	0.323000													23	91					0	0	0.667858	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827617	130827617	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:130827617G>A	ENST00000245255.3	+	3	433	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	54					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGGCAGAGAGGAACAGCAGGA	0.443000													15	30					0	0	0.457914	0	0
POU1F1	5449	broad.mit.edu	37	3	87311363	87311363	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:87311363C>T	ENST00000350375.2	-	4	586	c.462G>A	c.(460-462)ggG>ggA	p.G154G	POU1F1_ENST00000344265.3_Silent_p.G180G|POU1F1_ENST00000560656.1_Intron	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	154	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CCAGGGCCTCCCCAACATTTG	0.428000													17	85					0	0	0.592651	0	0
LRFN2	57497	broad.mit.edu	37	6	40400324	40400324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:40400324G>A	ENST00000338305.6	-	2	1071	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	177						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGCTCAGCTGGTGGAGGTTG	0.592000													42	55					0	0	0.870114	0	0
GPR110	266977	broad.mit.edu	37	6	46977814	46977814	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46977814G>A	ENST00000371253.2	-	11	1572	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	GPR110_ENST00000283297.5_Missense_Mutation_p.P256S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	453					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTATTTTGGGGACACATTTTA	0.423000													51	63					0	0	0.870114	0	0
COL16A1	1307	broad.mit.edu	37	1	32122013	32122013	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:32122013A>G	ENST00000373672.3	-	66	4605	c.4089T>C	c.(4087-4089)ccT>ccC	p.P1363P	RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Silent_p.P1363P|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1363	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGGACCAGGAGGTCCATAGA	0.587000													5	15					0	0	0.248553	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643311	37643311	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:37643311G>A	ENST00000356958.4	-	5	1748	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	ZNF585A_ENST00000292841.5_Missense_Mutation_p.S442F|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S442F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S442C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCACATTTGGAACATATATA	0.413000													12	51					0	0	0.479597	0	0
COL28A1	340267	broad.mit.edu	37	7	7483251	7483251	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:7483251C>T	ENST00000399429.3	-	20	1755	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	539	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTGGTCCTTCTGGGCCTCTT	0.537000													53	56					0	0	0.870114	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:12878930C>T	ENST00000524591.2	+	5	1231	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	248							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418000													20	39					0	0	0.592651	0	0
TBX15	6913	broad.mit.edu	37	1	119427506	119427506	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:119427506C>T	ENST00000369429.3	-	8	1667	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	TBX15_ENST00000207157.3_Missense_Mutation_p.G447E			Q96SF7	TBX15_HUMAN	T-box 15	553						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTCTCTCCAAAGGCCCC	0.537000													10	30					0	0	0.335167	0	0
ITGA7	3679	broad.mit.edu	37	12	56088274	56088274	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:56088274C>T	ENST00000257880.7	-	18	2661	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G	ITGA7_ENST00000553804.1_Silent_p.G774G|ITGA7_ENST00000394229.2_Silent_p.G770G|ITGA7_ENST00000394230.2_Silent_p.G774G|ITGA7_ENST00000347027.6_Silent_p.G764G|ITGA7_ENST00000257879.6_Silent_p.G770G|ITGA7_ENST00000452168.2_Silent_p.G677G|ITGA7_ENST00000555728.1_Silent_p.G814G			Q13683	ITA7_HUMAN	integrin, alpha 7	814					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAATGCTGATCCCGGAGGTGC	0.567000													12	33					0	0	0.500413	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871781	8871781	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:8871781G>A	ENST00000256707.3	-	30	4566	c.4385C>T	c.(4384-4386)tCa>tTa	p.S1462L	KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1443L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1363L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1443L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1462					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACCCCTGATGATGAATAATC	0.458000													26	75					0	0	0.667858	0	0
GRAMD4	23151	broad.mit.edu	37	22	47068739	47068739	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:47068739G>A	ENST00000406902.1	+	14	1297		c.e14-1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTGCCCTCAGGACTCTATGC	0.557000													6	46					0	0	0.248553	0	0
STX1B	112755	broad.mit.edu	37	16	31008892	31008892	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31008892G>A	ENST00000215095.5	-	5	516	c.285C>T	c.(283-285)atC>atT	p.I95I	STX1B_ENST00000565419.1_Silent_p.I95I	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	95					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TGCTTTGCTCGATCGCTGCGG	0.692000													4	20					0	0	0.150653	0	0
LCT	3938	broad.mit.edu	37	2	136570190	136570190	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136570190C>T	ENST00000264162.2	-	7	2054	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	682	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G682C(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCGACAGACCCAGAAAATCA	0.537000													18	46					0	0	0.539581	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658879	49658879	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:49658879G>A	ENST00000249601.4	-	9	1589	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	ARHGAP22_ENST00000374170.1_Silent_p.S272S|ARHGAP22_ENST00000374172.1_Silent_p.S322S|ARHGAP22_ENST00000477708.2_Silent_p.S264S|ARHGAP22_ENST00000417247.2_Silent_p.S341S|ARHGAP22_ENST00000435790.2_Silent_p.S437S|ARHGAP22_ENST00000417912.2_Silent_p.S447S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	431	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCCGGAAGGAGGACTTCC	0.697000													4	11					0	0	0.217242	0	0
NUP210	23225	broad.mit.edu	37	3	13401823	13401823	+	Silent	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:13401823G>T	ENST00000254508.5	-	15	2183	c.2101C>A	c.(2101-2103)Cgg>Agg	p.R701R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	701					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGATAATTCCGGGAGGAATGG	0.592000													11	22					4.36969e-10	4.44242e-10	0.435327	1	0
UBE4B	10277	broad.mit.edu	37	1	10205044	10205044	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:10205044C>T	ENST00000377157.3	+	17	2736	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	UBE4B_ENST00000343090.6_Missense_Mutation_p.P804S|UBE4B_ENST00000253251.8_Missense_Mutation_p.P675S	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	804					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAAGATTCCCCACTGGCAAC	0.388000													4	29					0	0	0.150653	0	0
MLLT4	4301	broad.mit.edu	37	6	168352766	168352766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:168352766C>T	ENST00000366806.2	+	30	4853	c.4711C>T	c.(4711-4713)Cag>Tag	p.Q1571*	MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1570*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1571*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1554*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1578*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1571*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1571*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1571					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAAGAGACTCCaggagtcgaa	0.602000			T	MLL	AL								7	16					0	0	0.248553	0	0
COL1A1	1277	broad.mit.edu	37	17	48271786	48271786	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48271786G>A	ENST00000225964.5	-	23	1656	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	513	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGGGCCAGGAGAACCACGTTC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						17	40					0	0	0.575678	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110422196	110422196	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110422196G>A	ENST00000378402.5	+	19	2178	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	692					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGAAACTGATTTTAATCT	0.299000										HNSCC(38;0.096)			13	19					0	0	0.457914	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141536973C>T	ENST00000350549.3	-	4	877	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_ENST00000438520.1_Missense_Mutation_p.G169E	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000													20	125					0	0	0.592651	0	0
BTBD9	114781	broad.mit.edu	37	6	38545387	38545387	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:38545387G>A	ENST00000481247.1	-	6	1294	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	BTBD9_ENST00000403056.1_Silent_p.A381A|BTBD9_ENST00000419706.2_Silent_p.A322A|BTBD9_ENST00000408958.1_Silent_p.A313A|BTBD9_ENST00000314100.6_Silent_p.A313A	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	381					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TGCAGACACGGGCTGGAAAAT	0.353000													28	92					0	0	0.779181	0	0
P4HA3	283208	broad.mit.edu	37	11	74000171	74000171	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:74000171C>T	ENST00000331597.4	-	5	767	c.722G>A	c.(721-723)gGa>gAa	p.G241E	P4HA3_ENST00000427714.2_Missense_Mutation_p.G241E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	241						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					cgaaacatttcctgcctgtta	0.353000													4	17					0	0	0.150653	0	0
ADRA2C	152	broad.mit.edu	37	4	3769665	3769665	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:3769665C>T	ENST00000330055.5	+	1	1541	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	444					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCAGGATTTCCGGCGATCCT	0.607000													7	24					0	0	0.307466	0	0
FAM177B	400823	broad.mit.edu	37	1	222920367	222920367	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:222920367C>T	ENST00000445590.2	+	4	451	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM177B_ENST00000360827.2_Missense_Mutation_p.S62F	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	62										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TCTAAACTTTCCTGGGGGCCC	0.353000													39	35					0	0	0.870114	0	0
KRT72	140807	broad.mit.edu	37	12	52986727	52986727	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:52986727C>T	ENST00000293745.2	-	3	736	c.651G>A	c.(649-651)gtG>gtA	p.V217V	KRT72_ENST00000398066.3_Silent_p.V29V|KRT72_ENST00000354310.4_Silent_p.V217V|KRT72_ENST00000537672.2_Silent_p.V217V	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	217	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTTAATCTCCACCTCATACC	0.527000													18	64					0	0	0.575678	0	0
CNRIP1	25927	broad.mit.edu	37	2	68520994	68520994	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:68520994T>A	ENST00000263655.3	-	3	1100	c.495A>T	c.(493-495)tgA>tgT	p.*165C	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						AGAGCCACTTTCAGAGGAAGG	0.478000													18	67					0	0	0.575678	0	0
DFNB31	25861	broad.mit.edu	37	9	117168916	117168916	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:117168916G>T	ENST00000362057.3	-	9	2123	c.1955C>A	c.(1954-1956)gCc>gAc	p.A652D	DFNB31_ENST00000265134.6_Missense_Mutation_p.A269D|DFNB31_ENST00000374059.3_Missense_Mutation_p.A301D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	652	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGACGGAGGCATAGATGGG	0.672000													22	54					2.39556e-15	2.44561e-15	0.639603	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809604	18809604	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:18809604C>G	ENST00000400664.1	+	1	2181	c.2129C>G	c.(2128-2130)aCg>aGg	p.T710R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	710						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTACCGGACGCCTTACCCG	0.647000													14	31					0	0	0.457914	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42441939	42441939	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:42441939C>T	ENST00000397272.3	-	11	1122	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G344E	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	344	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCACTCAATCCCAGCACTTG	0.572000													10	16					0	0	0.361761	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578466	44578466	+	Missense_Mutation	SNP	C	C	T	rs1468384		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:44578466C>T	ENST00000289547.4	-	2	1585	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.M510I|NPC1L1_ENST00000423141.1_Missense_Mutation_p.M510I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.M510I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	510			M -> I (in dbSNP:rs1468384).		cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGTCTGCCCCATCAGTGTCT	0.587000													17	147					0	0	0.539581	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968752	21968752	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:21968752A>G	ENST00000268379.4	+	3	896	c.132A>G	c.(130-132)ccA>ccG	p.P44P	UQCRC2_ENST00000561553.1_Silent_p.P44P	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	44					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCAAGTTACCAAATGGCTTGG	0.358000													19	39					0	0	0.592651	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83419355	83419355	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:83419355C>T	ENST00000262752.2	-	2	129	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G41E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	41					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTGCTTCTCCCTCTTCCAT	0.313000													13	27					0	0	0.500413	0	0
PSG9	5678	broad.mit.edu	37	19	43762223	43762223	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:43762223G>A	ENST00000244293.7	-	4	1161	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Silent_p.L272L|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GAGGGTTCAGGAGGAGAATTT	0.463000													7	19					0	0	0.248553	0	0
ABCA9	10350	broad.mit.edu	37	17	67012497	67012497	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:67012497C>T	ENST00000340001.4	-	22	3147	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.R979Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.R979Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	979					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCAATTCAGCCGTTTTGTATT	0.348000													35	119					0	0	0.819951	0	0
MYH4	4622	broad.mit.edu	37	17	10357053	10357053	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:10357053C>T	ENST00000255381.2	-	23	2951	c.2841G>A	c.(2839-2841)ctG>ctA	p.L947L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	947					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTCATCCTCCAGTTTCCTCT	0.443000													73	275					0	0	0.870114	0	0
SPG11	80208	broad.mit.edu	37	15	44892813	44892813	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:44892813G>A	ENST00000261866.7	-	21	3554	c.3538C>T	c.(3538-3540)Cca>Tca	p.P1180S	SPG11_ENST00000427534.2_Missense_Mutation_p.P1180S|SPG11_ENST00000558319.1_Missense_Mutation_p.P1180S|SPG11_ENST00000535302.2_Missense_Mutation_p.P1180S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1180					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAGAAATGTGGGAGATGACTC	0.353000													36	89					0	0	0.796494	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83419356	83419356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:83419356C>T	ENST00000262752.2	-	2	128	c.121G>A	c.(121-123)Gga>Aga	p.G41R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G41R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	41					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCTGCTTCTCCCTCTTCCATT	0.313000													13	27					0	0	0.500413	0	0
COL10A1	1300	broad.mit.edu	37	6	116442900	116442900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:116442900C>T	ENST00000327673.4	-	2	786	c.379G>A	c.(379-381)Gga>Aga	p.G127R	COL10A1_ENST00000243222.4_Missense_Mutation_p.G127R|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P94L			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	127	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCAACATCTCCTTTTGGTCCA	0.602000													7	20					0	0	0.278610	0	0
OR4B1	119765	broad.mit.edu	37	11	48238551	48238551	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:48238551C>T	ENST00000309562.2	+	1	208	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTAGCTGCCTGTCCTTGGT	0.498000													31	141					0	0	0.750413	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134791	48134791	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48134791C>T	ENST00000405493.2	-	20	2039	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	RAPGEF3_ENST00000389212.3_Silent_p.V652V|RAPGEF3_ENST00000171000.4_Silent_p.V610V|RAPGEF3_ENST00000449771.2_Silent_p.V652V|RAPGEF3_ENST00000549151.1_Silent_p.V610V|RAPGEF3_ENST00000548919.1_Silent_p.V561V|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	610					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCAGAGCCCACAGTGGGCC	0.647000													9	15					0	0	0.307466	0	0
LRTM1	57408	broad.mit.edu	37	3	54952557	54952557	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:54952557C>T	ENST00000273286.5	-	3	1129	c.967G>A	c.(967-969)Gga>Aga	p.G323R	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G247R	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	323						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCCAAGGGTCCCCCATGGTAC	0.507000													46	116					0	0	0.870114	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757063	56757063	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56757063C>T	ENST00000326855.2	+	1	717	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGCCACCATCCTGAAAATGT	0.428000													39	102					0	0	0.834066	0	0
PCK1	5105	broad.mit.edu	37	20	56136647	56136647	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:56136647G>A	ENST00000319441.4	+	2	344	c.180G>A	c.(178-180)atG>atA	p.M60I	PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	60			M -> T (in dbSNP:rs28383586).		gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGGCCAGATGGAGGAAGAGG	0.602000													17	86					0	0	0.575678	0	0
ERBB2	2064	broad.mit.edu	37	17	37881310	37881310	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:37881310C>T	ENST00000406381.2	+	23	2922	c.2412C>T	c.(2410-2412)agC>agT	p.S804S	ERBB2_ENST00000445658.2_Silent_p.S558S|ERBB2_ENST00000584601.1_Silent_p.S804S|ERBB2_ENST00000541774.1_Silent_p.S819S|ERBB2_ENST00000584450.1_Silent_p.S834S|ERBB2_ENST00000540147.1_Silent_p.S804S|ERBB2_ENST00000269571.5_Silent_p.S834S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	834	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGGGATGAGCTACCTGGAGG	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	37					0	0	0.539581	0	0
NRXN3	9369	broad.mit.edu	37	14	80130180	80130180	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:80130180G>A	ENST00000281127.7	+	3	1368	c.489G>A	c.(487-489)gaG>gaA	p.E163E	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Silent_p.E795E|NRXN3_ENST00000557594.1_Silent_p.E163E|NRXN3_ENST00000428277.2_Silent_p.E163E|NRXN3_ENST00000335750.5_Silent_p.E795E|RP11-242P2.1_ENST00000553322.1_RNA	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	163	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCATCAAAGAGGAGAGAACCC	0.473000													10	19					0	0	0.361761	0	0
OR52A1	23538	broad.mit.edu	37	11	5173125	5173125	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5173125C>T	ENST00000380367.1	-	2	892	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A159T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	159					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATGGGGCTACAAGAATA	0.463000													31	64					0	0	0.760397	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50988170	50988170	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:50988170C>T	ENST00000395676.2	+	1	1709	c.1575C>T	c.(1573-1575)ccC>ccT	p.P525P		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	525										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCTGCCCCTGCCCGCCC	0.692000													5	29					0	0	0.307466	0	0
MTMR9	66036	broad.mit.edu	37	8	11162451	11162451	+	Silent	SNP	T	T	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:11162451T>G	ENST00000221086.3	+	4	992	c.519T>G	c.(517-519)ctT>ctG	p.L173L	MTMR9_ENST00000526292.1_Silent_p.L88L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	173	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATGAAGCTCTTCGGAAGGTAG	0.458000													34	132					0	0	0.870114	0	0
FDFT1	2222	broad.mit.edu	37	8	11683691	11683691	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:11683691C>T	ENST00000220584.4	+	5	891	c.669C>T	c.(667-669)gaC>gaT	p.D223D	FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528643.1_Silent_p.D138D|FDFT1_ENST00000525900.1_Silent_p.D216D|FDFT1_ENST00000443614.2_Silent_p.D180D|FDFT1_ENST00000530664.1_Silent_p.D159D|FDFT1_ENST00000528812.1_Silent_p.D159D|FDFT1_ENST00000525777.1_Silent_p.D138D|FDFT1_ENST00000538689.1_Silent_p.D112D	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	223					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATCTGGAAGACCAGCAAGGAG	0.423000													34	103					0	0	0.847076	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131205	52131205	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:52131205G>A	ENST00000222107.4	-	5	1017	c.879C>T	c.(877-879)atC>atT	p.I293I	SIGLEC5_ENST00000534261.2_Silent_p.I293I|SIGLEC5_ENST00000429354.3_Silent_p.I293I|SIGLEC5_ENST00000599649.1_Silent_p.I293I|SIGLEC5_ENST00000570106.2_Silent_p.I293I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	293	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGGTATTGGAGATGGGGGTGG	0.622000													16	57					0	0	0.575678	0	0
ADAM28	10863	broad.mit.edu	37	8	24188673	24188673	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:24188673C>T	ENST00000265769.4	+	12	1224	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	ADAM28_ENST00000437154.2_Missense_Mutation_p.P372S|ADAM28_ENST00000540823.1_Missense_Mutation_p.P139S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P119S|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	372	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTTCTATATACCCACAGACTT	0.393000													34	102					0	0	0.870114	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	T	rs147405090		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:98509802C>T	ENST00000359863.4	+	18	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000													92	110					0	0	0.870114	0	0
PIN1	5300	broad.mit.edu	37	19	9949114	9949114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9949114C>T	ENST00000247970.4	+	2	83	c.61C>T	c.(61-63)Cga>Tga	p.R21*	PIN1_ENST00000588695.1_Nonsense_Mutation_p.R21*|PIN1_ENST00000587625.1_Nonsense_Mutation_p.R21*|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	21	WW.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						CCCTCCAGGCCGAGTGTACTA	0.652000													7	10					0	0	0.307466	0	0
COL4A4	1286	broad.mit.edu	37	2	227946902	227946902	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:227946902C>T	ENST00000396625.3	-	23	1832	c.1623_splice	c.e23-1	p.G542_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G542_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	542	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCATGCTTTCCCTTGGTGAA	0.413000													34	59					0	0	0.769981	0	0
IFI30	10437	broad.mit.edu	37	19	18288552	18288552	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:18288552C>T	ENST00000407280.2	+	6	736	c.668C>T	c.(667-669)aCc>aTc	p.T223I	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	223				T -> A (in Ref. 3; BAC98466).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CAGCTCCTTACCCTTGTCTGC	0.582000													14	34					0	0	0.479597	0	0
LDHA	3939	broad.mit.edu	37	11	18428900	18428900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:18428900C>T	ENST00000396222.2	+	7	901	c.802C>T	c.(802-804)Cct>Tct	p.P268S	LDHA_ENST00000422447.3_3'UTR|LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000430553.2_3'UTR|LDHA_ENST00000540430.1_3'UTR	NM_001165415.1	NP_001158887.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	0					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TGCATGTTGTCCTTTTTATCT	0.373000													6	10					0	0	0.217242	0	0
GPR98	84059	broad.mit.edu	37	5	90052378	90052378	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:90052378G>A	ENST00000405460.2	+	56	11784	c.11688G>A	c.(11686-11688)atG>atA	p.M3896I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3896					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCCCGGAATGGAAATAGCTG	0.408000													19	45					0	0	0.557998	0	0
DUS1L	64118	broad.mit.edu	37	17	80022717	80022717	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:80022717G>A	ENST00000354321.7	-	1	704	c.219C>T	c.(217-219)gaC>gaT	p.D73D	DUS1L_ENST00000306796.5_Silent_p.D73D			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	73					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGAGGGGCCGGTCCTCGGGGC	0.662000													20	34					0	0	0.639603	0	0
ENPP4	22875	broad.mit.edu	37	6	46108078	46108078	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46108078C>T	ENST00000321037.4	+	2	988	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	253						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACCTGGATTCCTGCATCGAT	0.388000													28	103					0	0	0.750413	0	0
DENND3	22898	broad.mit.edu	37	8	142178127	142178127	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:142178127C>G	ENST00000519811.1	+	13	1848	c.1778C>G	c.(1777-1779)cCg>cGg	p.P593R	DENND3_ENST00000424248.1_Missense_Mutation_p.P461R|DENND3_ENST00000262585.2_Missense_Mutation_p.P513R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	513								p.P513Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAAGTCCCCGTATACATTC	0.502000													51	204					0	0	0.870114	0	0
CLMP	79827	broad.mit.edu	37	11	122955364	122955364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:122955364G>A	ENST00000448775.2	-	3	584	c.244C>T	c.(244-246)Cga>Tga	p.R82*		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	82	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGGCCACTCGGCCCTTCTGT	0.512000													15	38					0	0	0.539581	0	0
C1orf111	284680	broad.mit.edu	37	1	162343956	162343956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:162343956C>T	ENST00000367935.4	-	3	747	c.668G>A	c.(667-669)tGg>tAg	p.W223*	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	223										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CTCCTTGCTCCAGAGGGCTTT	0.592000													31	90					0	0	0.740014	0	0
SVEP1	79987	broad.mit.edu	37	9	113312199	113312199	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:113312199C>T	ENST00000401783.2	-	2	1053	c.717G>A	c.(715-717)aaG>aaA	p.K239K	SVEP1_ENST00000302728.8_Silent_p.K239K|SVEP1_ENST00000374469.1_Silent_p.K216K|SVEP1_ENST00000374461.1_Silent_p.K216K|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	239	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTGCTCCTCCTTTGGGGTGG	0.478000													3	21					0	0	0.184627	0	0
ERBB4	2066	broad.mit.edu	37	2	212537891	212537891	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:212537891G>A	ENST00000342788.4	-	14	2024	c.1714C>T	c.(1714-1716)Ccg>Tcg	p.P572S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P572S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P572S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	572	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGCTTACCGGTCCATGGCAT	0.413000										TSP Lung(8;0.080)			25	79					0	0	0.706142	0	0
PROKR2	128674	broad.mit.edu	37	20	5283169	5283169	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:5283169G>A	ENST00000546004.1	-	3	918	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PROKR2_ENST00000217270.3_Silent_p.F224F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	224						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGATGAAGAGGAAGTAGGACT	0.537000										HNSCC(71;0.22)			42	47					0	0	0.864702	0	0
RIF1	55183	broad.mit.edu	37	2	152325177	152325177	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:152325177C>T	ENST00000243326.4	+	32	7331	c.6848C>T	c.(6847-6849)tCc>tTc	p.S2283F	RIF1_ENST00000453091.2_Missense_Mutation_p.S2257F|RIF1_ENST00000430328.2_Missense_Mutation_p.S2257F|RIF1_ENST00000444746.2_Missense_Mutation_p.S2283F|RIF1_ENST00000428287.2_Missense_Mutation_p.S2257F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2283	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCAAAGAATCCATACCATGC	0.373000													32	112					0	0	0.788014	0	0
TATDN3	128387	broad.mit.edu	37	1	212969872	212969872	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:212969872C>T	ENST00000366974.4	+	3	207	c.113C>T	c.(112-114)gCc>gTc	p.A38V	TATDN3_ENST00000530441.1_Missense_Mutation_p.A38V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000531963.1_Missense_Mutation_p.A38V|TATDN3_ENST00000526641.1_Missense_Mutation_p.A38V|TATDN3_ENST00000532324.1_Missense_Mutation_p.A38V|TATDN3_ENST00000366973.4_Missense_Mutation_p.A38V|TATDN3_ENST00000526997.1_Missense_Mutation_p.A38V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	38						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AATGTTGTGGCCCTTGTGGCA	0.284000													41	39					0	0	0.870114	0	0
AIM2	9447	broad.mit.edu	37	1	159035960	159035960	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159035960C>T	ENST00000368130.4	-	4	844	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	186	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AAGAAGAATTCCTTTTCTGTA	0.368000													46	63					0	0	0.870114	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166588	180166588	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:180166588C>T	ENST00000307832.2	-	1	511	c.471G>A	c.(469-471)ctG>ctA	p.L157L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTCTGGATCAGAGAGTTCA	0.557000													9	8					0	0	0.307466	0	0
RABGAP1	23637	broad.mit.edu	37	9	125865465	125865465	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125865465C>T	ENST00000373647.4	+	26	3317	c.3183C>T	c.(3181-3183)acC>acT	p.T1061T	RABGAP1_ENST00000373643.5_Silent_p.T400T	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1061					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGACAGCAACCGGGGTTCAAG	0.522000											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	84					0	0	0.592651	0	0
FRAS1	80144	broad.mit.edu	37	4	79321919	79321919	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:79321919C>T	ENST00000264895.6	+	30	4447	c.4007C>T	c.(4006-4008)tCg>tTg	p.S1336L	FRAS1_ENST00000325942.6_Missense_Mutation_p.S1336L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1335					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGCTAATTCGATGGTGTGG	0.418000													7	24					0	0	0.361761	0	0
CSMD2	114784	broad.mit.edu	37	1	34191055	34191055	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:34191055C>T	ENST00000373381.4	-	17	2766	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	824						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)				ACCTGGGTCCCGTGGTAAACC	0.542000													8	21					0	0	0.307466	0	0
ZNF641	121274	broad.mit.edu	37	12	48737456	48737456	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48737456C>T	ENST00000544117.2	-	6	1325	c.617G>A	c.(616-618)aGa>aAa	p.R206K	ZNF641_ENST00000547026.1_Missense_Mutation_p.R192K|ZNF641_ENST00000448928.3_Missense_Mutation_p.R183K|ZNF641_ENST00000301042.3_Missense_Mutation_p.R206K			Q96N77	ZN641_HUMAN	zinc finger protein 641	206	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GGATAACATTCTGGGAGGTTC	0.532000													3	4					0	0	0.115264	0	0
METTL8	79828	broad.mit.edu	37	2	172187129	172187129	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:172187129G>A	ENST00000375258.3	-	7	1015	c.800C>T	c.(799-801)cCa>cTa	p.P267L				B3KW44	B3KW44_HUMAN	methyltransferase like 8	267							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GATCCCATCTGGAAAAGGGTA	0.438000													19	43					0	0	0.592651	0	0
MET	4233	broad.mit.edu	37	7	116403266	116403266	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:116403266C>T	ENST00000397752.3	+	11	2727	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	MET_ENST00000318493.6_Missense_Mutation_p.P861S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	843					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTGTTTAAGCCTTTTGAAAA	0.358000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				54	44					0	0	0.870114	0	0
GPHA2	170589	broad.mit.edu	37	11	64702576	64702576	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:64702576C>G	ENST00000279168.2	-	3	229	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	GPHA2_ENST00000533257.1_Missense_Mutation_p.G59R|GPHA2_ENST00000532246.1_Missense_Mutation_p.G59R	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	59						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TCACAGTGGCCCACACAGGCC	0.597000													11	23					0	0	0.361761	0	0
COL4A5	1287	broad.mit.edu	37	X	107815042	107815042	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:107815042G>A	ENST00000328300.6	+	8	684	c.438_splice	c.e8-1	p.G147_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G147_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	147	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAATAATAGGGACCCCCTGGG	0.348000									Alport syndrome with Diffuse Leiomyomatosis				11	8					0	0	0.435327	0	0
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:16260357C>T	ENST00000375759.3	+	11	7826	c.7622C>T	c.(7621-7623)cCc>cTc	p.P2541L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2541	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582000													47	231					0	0	0.870114	0	0
OR51D1	390038	broad.mit.edu	37	11	4661722	4661722	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:4661722C>T	ENST00000357605.2	+	1	778	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCCTCATCCTGTGGGCTG	0.512000													31	67					0	0	0.788014	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74188197	74188197	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:74188197G>A	ENST00000286523.5	-	11	3522	c.2740C>T	c.(2740-2742)Cca>Tca	p.P914S	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P914S	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGCACCCTTGGGAACTTTTGG	0.592000													11	39					0	0	0.457914	0	0
MYO16	23026	broad.mit.edu	37	13	109496834	109496834	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:109496834C>T	ENST00000356711.2	+	10	1301	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	MYO16_ENST00000251041.5_Missense_Mutation_p.P392L|MYO16_ENST00000357550.2_Missense_Mutation_p.P392L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	392					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCACCAAACCCGAGCAGGTA	0.393000													20	57					0	0	0.639603	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110099751G>A	ENST00000518632.1	+	2	361	c.10G>A	c.(10-12)Gag>Aag	p.E4K	TRHR_ENST00000311762.2_Missense_Mutation_p.E4K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	4						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGGAAAACGAGACAGTCAG	0.458000													38	47					0	0	0.870114	0	0
RYR3	6263	broad.mit.edu	37	15	34021187	34021187	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:34021187G>A	ENST00000389232.4	+	47	7233	c.7163G>A	c.(7162-7164)gGa>gAa	p.G2388E	RYR3_ENST00000415757.3_Missense_Mutation_p.G2388E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2388	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGAGGTTGGATTTTTACCT	0.413000													8	26					0	0	0.307466	0	0
ATP11C	286410	broad.mit.edu	37	X	138878606	138878606	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:138878606G>A	ENST00000370557.1	-	12	2059	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	ATP11C_ENST00000327569.3_Silent_p.F347F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.F347F|ATP11C_ENST00000370543.1_Silent_p.F347F|ATP11C_ENST00000361648.2_Silent_p.F347F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	347					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TAAATGATAGGAAGTCGGTGA	0.318000													30	29					0	0	0.812448	0	0
MUSK	4593	broad.mit.edu	37	9	113563006	113563006	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:113563006C>T	ENST00000416899.2	+	13	2450	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	MUSK_ENST00000189978.5_Missense_Mutation_p.S783F|MUSK_ENST00000374448.4_Missense_Mutation_p.S783F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	783	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACTACAGAGTCTGATGTGTGG	0.498000													13	40					0	0	0.411799	0	0
NARS	4677	broad.mit.edu	37	18	55274789	55274789	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:55274789G>A	ENST00000256854.5	-	8	1143	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	NARS_ENST00000423481.2_Intron	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	230					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTGTTGTTGAGCTGGACATCA	0.478000													32	95					0	0	0.804634	0	0
CSPG4	1464	broad.mit.edu	37	15	75985519	75985519	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:75985519G>A	ENST00000308508.5	-	2	236	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	48	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAGGTCTATGTCGGTCAGAG	0.617000													8	10					0	0	0.307466	0	0
MET	4233	broad.mit.edu	37	7	116339804	116339804	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:116339804G>A	ENST00000397752.3	+	2	866	c.666G>A	c.(664-666)acG>acA	p.T222T	MET_ENST00000436117.2_Silent_p.T222T|MET_ENST00000318493.6_Silent_p.T222T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	222	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGGAAACGAAAGATGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				257	149					0	0	0.870114	0	0
SCN5A	6331	broad.mit.edu	37	3	38592138	38592138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:38592138G>A	ENST00000413689.1	-	28	5918	c.5725C>T	c.(5725-5727)Cag>Tag	p.Q1909*	SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Q1855*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.Q1876*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Q1909*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Q1908*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Q1908*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Q1891*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Q1891*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Q1855*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Q1855*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1909	IQ.				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAGGCTCTCTGGATAACCATG	0.612000													17	76					0	0	0.557998	0	0
ATXN1	6310	broad.mit.edu	37	6	16328366	16328366	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:16328366C>T	ENST00000244769.4	-	8	1112	c.176G>A	c.(175-177)aGg>aAg	p.R59K	ATXN1_ENST00000436367.1_Missense_Mutation_p.R59K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	59					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGCCCATGCCTCCCGCCCCC	0.667000													90	172					0	0	0.870114	0	0
PARD3B	117583	broad.mit.edu	37	2	206364752	206364752	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:206364752C>T	ENST00000406610.2	+	21	3384	c.3177C>T	c.(3175-3177)ctC>ctT	p.L1059L	PARD3B_ENST00000358768.2_Silent_p.L997L|PARD3B_ENST00000351153.1_Silent_p.L990L|PARD3B_ENST00000349953.3_Silent_p.L958L|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1059					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATGACCTACTCTGGGTAAGCG	0.428000													38	108					0	0	0.853193	0	0
ASZ1	136991	broad.mit.edu	37	7	117023050	117023050	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:117023050G>A	ENST00000284629.2	-	7	864	c.802C>T	c.(802-804)Cac>Tac	p.H268Y		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	268					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTAAAAATGTGATCTTTTTCT	0.254000													18	98					0	0	0.624587	0	0
UMOD	7369	broad.mit.edu	37	16	20352420	20352420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:20352420G>A	ENST00000396134.2	-	8	1792	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	UMOD_ENST00000424589.1_Nonsense_Mutation_p.Q557*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.Q524*|UMOD_ENST00000396138.4_Nonsense_Mutation_p.Q573*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.Q524*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.Q524*|UMOD_ENST00000570331.1_5'UTR	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	524	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TACCTGTCCTGGATGATGAAG	0.493000													6	25					0	0	0.217242	0	0
RAD18	56852	broad.mit.edu	37	3	8983221	8983221	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:8983221G>A	ENST00000264926.2	-	5	650	c.534C>T	c.(532-534)atC>atT	p.I178I	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	178					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GATCTGGAGCGATCTCTTCTA	0.428000								Rad6 pathway					12	15					0	0	0.387290	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475556	140475556	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140475556C>T	ENST00000194155.4	+	1	1330	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		394	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTTTTTTCTTGAAACCTT	0.493000													14	32					0	0	0.575678	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148819	70148819	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:70148819G>A	ENST00000374299.3	-	3	548	c.404C>T	c.(403-405)gCt>gTt	p.A135V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A135V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	135					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTGTCAAAAGCAGAGCTCCA	0.537000													20	18					0	0	0.681144	0	0
ADCY5	111	broad.mit.edu	37	3	123010056	123010056	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:123010056G>A	ENST00000462833.1	-	18	4443	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I	ADCY5_ENST00000309879.5_Silent_p.I727I|ADCY5_ENST00000491190.1_Silent_p.I735I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1077	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGAAGTTGGCGATGGAGGCGA	0.582000													16	56					0	0	0.539581	0	0
GPR158	57512	broad.mit.edu	37	10	25878021	25878021	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:25878021G>A	ENST00000376351.3	+	8	2198	c.1839G>A	c.(1837-1839)atG>atA	p.M613I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	613						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCGCTATATGGCTGTTGCAG	0.403000													21	52					0	0	0.654019	0	0
CD300A	11314	broad.mit.edu	37	17	72469977	72469977	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:72469977G>A	ENST00000360141.3	+	2	631	c.343G>A	c.(343-345)Gat>Aat	p.D115N	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	115	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGACTTTCATGATCCCGTTGT	0.562000													10	48					0	0	0.457914	0	0
PCDH18	54510	broad.mit.edu	37	4	138450990	138450990	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:138450990G>A	ENST00000344876.4	-	1	2639	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	PCDH18_ENST00000412923.2_Silent_p.S751S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.S531S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	751					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATCTGCCGGGATGGCCTTT	0.488000													26	49					0	0	0.804634	0	0
SCN3A	6328	broad.mit.edu	37	2	166003503	166003503	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:166003503T>G	ENST00000360093.3	-	12	1908	c.1417A>C	c.(1417-1419)Agt>Cgt	p.S473R	SCN3A_ENST00000283254.7_Missense_Mutation_p.S473R|SCN3A_ENST00000409101.3_Missense_Mutation_p.S473R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	473						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCTATTCCACTGAAATCTCTT	0.428000													20	64					0	0	0.608945	0	0
PLXND1	23129	broad.mit.edu	37	3	129284280	129284280	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:129284280G>A	ENST00000393239.1	-	25	4602	c.4424C>T	c.(4423-4425)gCc>gTc	p.A1475V	PLXND1_ENST00000324093.4_Missense_Mutation_p.A1475V			Q9Y4D7	PLXD1_HUMAN	plexin D1	1475					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTTCTTGGCGGCCGAGGCGTC	0.602000													18	50					0	0	0.539581	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409566	153409566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:153409566C>T	ENST00000368725.2	-	3	306	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2									p.G103*(1)|p.G92*(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTGCCACTCCATGCATTATC	0.468000													74	105					0	0	0.870114	0	0
HHATL	57467	broad.mit.edu	37	3	42734363	42734363	+	Silent	SNP	G	G	A	rs17852071		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:42734363G>A	ENST00000441594.1	-	12	1656	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	HHATL_ENST00000310417.5_Silent_p.F465F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	465					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGGTCTGGGGGAACCCTGTGT	0.602000													15	44					0	0	0.500413	0	0
GRK4	2868	broad.mit.edu	37	4	3040189	3040189	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:3040189C>T	ENST00000398052.4	+	15	1975	c.1632C>T	c.(1630-1632)acC>acT	p.T544T	GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Intron|GRK4_ENST00000345167.6_Silent_p.T512T|GRK4_ENST00000504933.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	544						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACATACATACCCCGGTTTCCA	0.373000													19	57					0	0	0.557998	0	0
GREM2	64388	broad.mit.edu	37	1	240656377	240656377	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:240656377C>T	ENST00000318160.4	-	2	665	c.399G>A	c.(397-399)gtG>gtA	p.V133V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	133	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACTCGAGCTCCACGAGGACGG	0.617000													12	110					0	0	0.411799	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													11	31					0	0	0.387290	0	0
TMC2	117532	broad.mit.edu	37	20	2582803	2582803	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:2582803C>T	ENST00000358864.1	+	11	1284	c.1269C>T	c.(1267-1269)atC>atT	p.I423I		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	423						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGAAAATATCCATCTGACAA	0.403000													18	76					0	0	0.624587	0	0
SUB1	10923	broad.mit.edu	37	5	32601183	32601183	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:32601183A>G	ENST00000265073.4	+	5	505	c.377A>G	c.(376-378)aAa>aGa	p.K126R	SUB1_ENST00000502897.1_Missense_Mutation_p.K126R|SUB1_ENST00000512913.1_Missense_Mutation_p.K126R|SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000515355.1_Missense_Mutation_p.K126R	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	126					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCAGTAAGAAAACTGTAAAAT	0.313000													12	34					0	0	0.500413	0	0
RRP1B	23076	broad.mit.edu	37	21	45107925	45107925	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45107925G>A	ENST00000340648.4	+	13	1787	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	557					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCCGCAGAGGGGGCGAACAGC	0.662000													9	13					0	0	0.335167	0	0
SYNGR1	9145	broad.mit.edu	37	22	39746024	39746024	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:39746024G>A	ENST00000328933.5	+	1	24	c.9G>A	c.(7-9)ggG>ggA	p.G3G	SYNGR1_ENST00000406293.3_Silent_p.G3G|SYNGR1_ENST00000216155.7_Silent_p.G3G|SYNGR1_ENST00000318801.4_Silent_p.G3G	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CGATGGAAGGGGGTGCGTACG	0.786000													5	13					0	0	0.248553	0	0
NLRP4	147945	broad.mit.edu	37	19	56369880	56369880	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:56369880C>T	ENST00000301295.6	+	3	1543	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S374F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S299F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	374	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGTACTCCTCTTTCGTCTTT	0.582000													15	27					0	0	0.539581	0	0
ABCG1	9619	broad.mit.edu	37	21	43693447	43693447	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:43693447G>A	ENST00000398437.1	+	5	1025	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	ABCG1_ENST00000398457.2_Missense_Mutation_p.G149S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.G158S|ABCG1_ENST00000347800.2_Missense_Mutation_p.G144S|ABCG1_ENST00000340588.4_Missense_Mutation_p.G255S|ABCG1_ENST00000398449.3_Missense_Mutation_p.G147S|ABCG1_ENST00000361802.2_Missense_Mutation_p.G147S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	147	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCTCATCAACGGCCTGCCCCG	0.647000													32	80					0	0	0.819951	0	0
MYL5	4636	broad.mit.edu	37	4	672496	672496	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:672496G>A	ENST00000400159.2	+	2	158	c.53G>A	c.(52-54)aGa>aAa	p.R18K	MYL5_ENST00000506838.1_5'UTR|MYL5_ENST00000511290.1_5'UTR|MYL5_ENST00000505477.1_5'UTR	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	18					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CGGGCCCAGAGAGCCTCATCC	0.607000													6	7					0	0	0.278610	0	0
ZNF648	127665	broad.mit.edu	37	1	182025717	182025717	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:182025717G>A	ENST00000339948.3	-	2	1636	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGCGTGCAAGGAAAGGGCCTC	0.672000													13	10					0	0	0.457914	0	0
PLCB2	5330	broad.mit.edu	37	15	40594799	40594799	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40594799G>A	ENST00000260402.3	-	4	492	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PLCB2_ENST00000543785.2_Silent_p.L81L|PLCB2_ENST00000456256.2_Silent_p.L81L|PLCB2_ENST00000557821.1_Silent_p.L81L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	81					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGACGTCCCGGAGCTTCTGGC	0.592000													12	36					0	0	0.435327	0	0
POLQ	10721	broad.mit.edu	37	3	121208660	121208660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:121208660G>A	ENST00000264233.5	-	16	3246	c.3118C>T	c.(3118-3120)Cga>Tga	p.R1040*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1040					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)		TTCCAAGATCGAAAACTTCTG	0.408000								DNA polymerases (catalytic subunits)					12	50					0	0	0.411799	0	0
SP140	11262	broad.mit.edu	37	2	231109743	231109743	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:231109743G>A	ENST00000392045.3	+	6	726	c.612G>A	c.(610-612)aaG>aaA	p.K204K	SP140_ENST00000486687.2_Silent_p.K204K|SP140_ENST00000343805.6_Silent_p.K204K|SP140_ENST00000350136.5_Silent_p.K184K|SP140_ENST00000417495.3_Silent_p.K204K|SP140_ENST00000420434.3_Silent_p.K204K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	204					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCTCCCAAAGGCTGGTGGAG	0.463000													16	30					0	0	0.557998	0	0
PBX3	5090	broad.mit.edu	37	9	128678003	128678003	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:128678003G>A	ENST00000373487.4	+	3	393	c.313G>A	c.(313-315)Gat>Aat	p.D105N	PBX3_ENST00000447726.2_Missense_Mutation_p.D30N|PBX3_ENST00000373489.5_Missense_Mutation_p.D105N|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000342287.5_Missense_Mutation_p.D105N|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	105					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.D105Y(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGACCCTCCCGATCCCCAGCT	0.557000													14	25					0	0	0.435327	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242260	45242260	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:45242260G>A	ENST00000279027.4	-	2	234	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SLC13A3_ENST00000417157.2_Silent_p.F25F|SLC13A3_ENST00000413164.2_Silent_p.F72F|SLC13A3_ENST00000290317.5_Silent_p.F25F|SLC13A3_ENST00000372121.1_Silent_p.F72F|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Silent_p.F25F|SLC13A3_ENST00000396360.1_Silent_p.F25F|SLC13A3_ENST00000495082.1_Silent_p.F25F|SLC13A3_ENST00000339636.3_Silent_p.F72F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	72						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGATGCCCATGAAGGGGAAGA	0.607000													10	8					0	0	0.387290	0	0
IFRD1	3475	broad.mit.edu	37	7	112112285	112112285	+	Silent	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:112112285T>C	ENST00000403825.3	+	10	1314	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	IFRD1_ENST00000005558.4_Silent_p.F351F|IFRD1_ENST00000535603.1_Silent_p.F301F	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	351					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACGGGATTTTCCAACAGAAA	0.383000													55	170					0	0	0.870114	0	0
MYO5A	4644	broad.mit.edu	37	15	52672077	52672077	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:52672077G>A	ENST00000399231.3	-	17	2284	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	MYO5A_ENST00000399233.2_Silent_p.L681L|MYO5A_ENST00000356338.6_Silent_p.L681L|MYO5A_ENST00000553916.1_Silent_p.L681L|MYO5A_ENST00000358212.6_Silent_p.L681L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	681	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)		CATGCTCTCAGCTGCTGCACT	0.498000													26	66					0	0	0.729181	0	0
AGAP6	414189	broad.mit.edu	37	10	51769427	51769427	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:51769427C>T	ENST00000374056.4	+	7	1871	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	AGAP6_ENST00000412531.3_Silent_p.S514S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	514					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCACCTTTCCCGTGTGCGAT	0.522000													68	177					0	0	0.870114	0	0
DEDD2	162989	broad.mit.edu	37	19	42713916	42713916	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:42713916G>A	ENST00000595337.1	-	4	612	c.525C>T	c.(523-525)gcC>gcT	p.A175A	DEDD2_ENST00000598727.1_Silent_p.A175A|DEDD2_ENST00000596251.1_Silent_p.A175A|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Silent_p.A170A	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	175					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GTGCGGCTGGGGCCCCTCTCC	0.652000													17	54					0	0	0.520397	0	0
MUC16	94025	broad.mit.edu	37	19	9062771	9062771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9062771C>T	ENST00000397910.4	-	3	24878	c.24675G>A	c.(24673-24675)tgG>tgA	p.W8225*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8227	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTTTCTACCCAGTTGGGTG	0.458000													14	24					0	0	0.479597	0	0
ODF2	4957	broad.mit.edu	37	9	131255052	131255052	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:131255052C>T	ENST00000303890.5	+	18	2233	c.1648C>T	c.(1648-1650)Ctt>Ttt	p.L550F	ODF2_ENST00000372796.4_Missense_Mutation_p.L574F|ODF2_ENST00000448249.3_Missense_Mutation_p.L493F|ODF2_ENST00000372807.5_Missense_Mutation_p.L569F|ODF2_ENST00000372791.3_Missense_Mutation_p.L555F|ODF2_ENST00000372814.3_Missense_Mutation_p.L618F|ODF2_ENST00000444119.2_Missense_Mutation_p.L550F|ODF2_ENST00000546203.1_Missense_Mutation_p.L555F|ODF2_ENST00000393533.2_Missense_Mutation_p.L574F|ODF2_ENST00000351030.3_Missense_Mutation_p.L569F|ODF2_ENST00000434106.2_Missense_Mutation_p.L574F	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	574					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAACAAGATCCTTAAAGATGA	0.448000													8	38					0	0	0.307466	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288220	132288220	+	Missense_Mutation	SNP	G	G	A	rs148324548		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:132288220G>A	ENST00000467992.2	+	1	984	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CCDC74A_ENST00000295171.6_Missense_Mutation_p.G122R|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	122										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCATCAACGGAGTGTGGGT	0.657000													4	43					0	0	0.248553	0	0
NF1	4763	broad.mit.edu	37	17	29679304	29679304	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:29679304C>T	ENST00000358273.4	+	51	7870	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	NF1_ENST00000444181.2_Missense_Mutation_p.S289F|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Missense_Mutation_p.S2475F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2496					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATGGTCCTCTCCCAAAGGT	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	61					0	0	0.500413	0	0
ABCC10	89845	broad.mit.edu	37	6	43402557	43402557	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:43402557C>T	ENST00000244533.3	+	2	1809	c.1450C>T	c.(1450-1452)Ctc>Ttc	p.L484F	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000372530.4_Missense_Mutation_p.L527F	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	527	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCTATGTCCTCATGGGGCA	0.572000													40	49					0	0	0.870114	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059391	152059391	+	Missense_Mutation	SNP	C	C	T	rs140526562		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:152059391C>T	ENST00000368806.1	-	3	831	c.767G>A	c.(766-768)gGa>gAa	p.G256E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	256							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCAAGTTTCCTTCCTGTTC	0.428000													68	91					0	0	0.870114	0	0
ABCC8	6833	broad.mit.edu	37	11	17483345	17483345	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:17483345C>T	ENST00000302539.4	-	5	732	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E203K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	203					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTTCACCTCCCTCGGTGTC	0.577000													11	34					0	0	0.435327	0	0
DAGLA	747	broad.mit.edu	37	11	61488210	61488210	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:61488210C>T	ENST00000257215.5	+	3	271	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	52					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGGCCTGCTCCCTGAACCTG	0.642000													18	77					0	0	0.557998	0	0
RNF122	79845	broad.mit.edu	37	8	33406291	33406291	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:33406291G>A	ENST00000256257.1	-	6	849	c.448C>T	c.(448-450)Cta>Tta	p.L150L		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	150						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	p.L150I(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TCATCCAATAGAATCCCAATG	0.547000													44	132					0	0	0.870114	0	0
USPL1	10208	broad.mit.edu	37	13	31227350	31227350	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:31227350C>G	ENST00000255304.4	+	8	1646	c.1304C>G	c.(1303-1305)gCa>gGa	p.A435G		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	435					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348000													37	148					0	0	0.827153	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:26147192C>T	ENST00000331351.5	+	2	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552000													59	161					0	0	0.870114	0	0
C11orf95	65998	broad.mit.edu	37	11	63533328	63533328	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:63533328C>T	ENST00000433688.1	-	0	606							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										cctcctcctcctcttcttcct	0.682000													2	2					0	0	0.115264	0	0
ARMC4	55130	broad.mit.edu	37	10	28229730	28229730	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:28229730G>A	ENST00000305242.5	-	13	1840	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	ARMC4_ENST00000537576.1_Missense_Mutation_p.A275V|ARMC4_ENST00000545014.1_Missense_Mutation_p.A108V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	583							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTAGTAGAGCAACCTATAA	0.448000													12	57					0	0	0.457914	0	0
TBX15	6913	broad.mit.edu	37	1	119467391	119467391	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:119467391G>A	ENST00000369429.3	-	4	580	c.571C>T	c.(571-573)Cct>Tct	p.P191S	TBX15_ENST00000207157.3_Missense_Mutation_p.P85S			Q96SF7	TBX15_HUMAN	T-box 15	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGGGCACAGGGGAATCAGCA	0.463000													30	163					0	0	0.760397	0	0
RHBDF1	64285	broad.mit.edu	37	16	114705	114705	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:114705G>A	ENST00000262316.6	-	3	382	c.240C>T	c.(238-240)acC>acT	p.T80T	RHBDF1_ENST00000454039.2_Silent_p.T80T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	80					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACCTGCGGATGGTCTGTGTGA	0.627000													49	134					0	0	0.870114	0	0
PTH2R	5746	broad.mit.edu	37	2	209302320	209302320	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:209302320G>A	ENST00000272847.2	+	3	450	c.237G>A	c.(235-237)ggG>ggA	p.G79G	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	79						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAACAGTGGGGAAAATATCGG	0.313000													15	47					0	0	0.608945	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996520	19996520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:19996520G>A	ENST00000391403.2	-	1	1358	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	419						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTTCTTTTGATAAAAATGA	0.373000													17	62					0	0	0.557998	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838270	22838270	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:22838270G>A	ENST00000404138.1	+	12	2615	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	ZBTB40_ENST00000374651.4_Missense_Mutation_p.D590N|ZBTB40_ENST00000375647.4_Missense_Mutation_p.D702N	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	702					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCAAAGAAGACAGCCAGCC	0.483000													4	28					0	0	0.184627	0	0
FER1L6	654463	broad.mit.edu	37	8	125082755	125082755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:125082755G>A	ENST00000522917.1	+	30	4088	c.3882G>A	c.(3880-3882)tgG>tgA	p.W1294*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1294						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGAAGACTGGGTGAAAACTT	0.418000													33	179					0	0	0.779181	0	0
POLR2B	5431	broad.mit.edu	37	4	57890233	57890233	+	Silent	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:57890233C>A	ENST00000381227.1	+	22	3332	c.2919C>A	c.(2917-2919)ccC>ccA	p.P973P	POLR2B_ENST00000441246.2_Silent_p.P966P|POLR2B_ENST00000314595.5_Silent_p.P973P|POLR2B_ENST00000431623.2_Silent_p.P898P			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	973					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATGCCATCCCCTCTCGTATGA	0.378000													4	119					2.56e-06	2.59182e-06	0.150653	1	0
TWF2	11344	broad.mit.edu	37	3	52263076	52263076	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:52263076G>A	ENST00000305533.5	-	9	1267	c.1024C>T	c.(1024-1026)Ccg>Tcg	p.P342S	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCACCCGGGCCGCGGATG	0.672000													20	41					0	0	0.639603	0	0
COL11A2	1302	broad.mit.edu	37	6	33137226	33137226	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:33137226C>T	ENST00000341947.2	-	51	3959	c.3732G>A	c.(3730-3732)caG>caA	p.Q1244Q	COL11A2_ENST00000361917.1_Silent_p.Q1137Q|COL11A2_ENST00000374714.1_Silent_p.Q1218Q|COL11A2_ENST00000395197.1_Silent_p.Q1184Q|COL11A2_ENST00000374708.4_Silent_p.Q1158Q|COL11A2_ENST00000374712.1_Silent_p.Q1163Q|COL11A2_ENST00000357486.1_Silent_p.Q1223Q|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.Q1197Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1244	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCTCCTGGCTGCCCCGACT	0.627000													12	21					0	0	0.435327	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862794	10862794	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:10862794G>A	ENST00000559480.1	+	0	90																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGGCTGAGGTGAAGAAGCCTG	0.567000													22	120					0	0	0.693898	0	0
AKAP6	9472	broad.mit.edu	37	14	33015385	33015385	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:33015385G>A	ENST00000280979.4	+	4	1696	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	AKAP6_ENST00000557354.1_Missense_Mutation_p.R509Q|AKAP6_ENST00000557272.1_Missense_Mutation_p.R509Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	509					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTCCATGCCGAACACCTAAA	0.453000													21	50					0	0	0.608945	0	0
UXT	8409	broad.mit.edu	37	X	47516644	47516644	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:47516644G>A	ENST00000335890.2	-	4	483	c.330C>T	c.(328-330)ttC>ttT	p.F110F	UXT_ENST00000333119.3_Silent_p.F98F|UXT_ENST00000460840.1_5'UTR	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	98					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TCAACTCCAGGAAAAAACCAT	0.458000													5	5					0	0	0.248553	0	0
FMN2	56776	broad.mit.edu	37	1	240341279	240341279	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:240341279C>T	ENST00000319653.9	+	3	2071	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	614					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGGACTATTCAGAAGGGCAG	0.438000													9	52					0	0	0.307466	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351005	40351005	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:40351005G>A	ENST00000310169.2	+	4	611	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	158					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGTGTGGTGGATGTCACCTA	0.512000													29	98					0	0	0.750413	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711062	58711062	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:58711062G>A	ENST00000300079.5	+	2	121	c.71G>A	c.(70-72)gGa>gAa	p.G24E	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	gtatccccaggagcgcgaagt	0.438000													7	21					0	0	0.278610	0	0
SMYD1	150572	broad.mit.edu	37	2	88408040	88408040	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:88408040C>T	ENST00000419482.2	+	9	1381	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.P419P	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCTCCCACCCCATCACTAAGG	0.562000													6	26					0	0	0.217242	0	0
IGHD	3495	broad.mit.edu	37	14	106311939	106311939	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:106311939C>T	ENST00000390556.2	-	0	71																											CATGCCAGGACCACAGGGCTG	0.562000													17	37					0	0	0.539581	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000													31	73					0	0	0.834066	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206660	45206660	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:45206660G>A	ENST00000587331.1	+	3	294	c.79G>A	c.(79-81)Gag>Aag	p.E27K	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.E27K	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	27										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TATCACCCTGGAGCCTGCCCA	0.602000													7	23					0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9020132	9020132	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9020132C>T	ENST00000397910.4	-	21	37566	c.37363G>A	c.(37363-37365)Gga>Aga	p.G12455R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12457	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATCCACTCCAGTGGCTGCT	0.517000													35	89					0	0	0.819951	0	0
DMGDH	29958	broad.mit.edu	37	5	78325734	78325734	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:78325734C>T	ENST00000255189.3	-	11	1835	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	DMGDH_ENST00000380311.4_Missense_Mutation_p.D402N|DMGDH_ENST00000540686.1_Missense_Mutation_p.D223N	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	603					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TACCTAAGATCATGAAGTTCT	0.373000													12	10					0	0	0.435327	0	0
PDE3A	5139	broad.mit.edu	37	12	20833083	20833083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:20833083C>T	ENST00000359062.3	+	16	3344	c.3304C>T	c.(3304-3306)Caa>Taa	p.Q1102*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1102					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CATAGAAAATCAATCCCTGGA	0.468000													37	124					0	0	0.853193	0	0
CABYR	26256	broad.mit.edu	37	18	21740034	21740034	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21740034G>A	ENST00000399496.3	+	5	1304		c.e5+1		CABYR_ENST00000581397.1_Splice_Site|CABYR_ENST00000327201.6_Splice_Site|CABYR_ENST00000399499.1_Splice_Site|CABYR_ENST00000415309.2_Splice_Site|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGAAAACTGGTAGGTACACT	0.408000													22	46					0	0	0.608945	0	0
PAK2	5062	broad.mit.edu	37	3	196554126	196554126	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:196554126C>T	ENST00000327134.3	+	14	1732	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	470	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAACTTTCCCCAATATTTC	0.348000													25	45					0	0	0.706142	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610432	54610432	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:54610432G>A	ENST00000302287.3	+	1	415	c.9G>A	c.(7-9)ggG>ggA	p.G3G	VSTM2A_ENST00000402026.2_Silent_p.G2G|VSTM2A_ENST00000402613.3_Silent_p.G3G|VSTM2A_ENST00000407838.3_Silent_p.G3G|VSTM2A_ENST00000404951.1_Silent_p.G3G			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	3						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GAATGATGGGGATCTTTTTGG	0.443000													62	55					0	0	0.870114	0	0
ADCK4	79934	broad.mit.edu	37	19	41220505	41220505	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:41220505C>T	ENST00000324464.3	-	2	334	c.33G>A	c.(31-33)ggG>ggA	p.G11G	ADCK4_ENST00000450541.1_Silent_p.G11G|ADCK4_ENST00000243583.6_Silent_p.G11G	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	11						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCCACCGGTCCCCCGAAGTA	0.657000													8	25					0	0	0.361761	0	0
CUBN	8029	broad.mit.edu	37	10	17088027	17088027	+	Silent	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:17088027G>T	ENST00000377833.4	-	24	3461	c.3396C>A	c.(3394-3396)atC>atA	p.I1132I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1132	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGAGAGATGATTGTTGGGG	0.373000													36	77					1.42033e-22	1.46222e-22	0.796494	1	0
R3HDM1	23518	broad.mit.edu	37	2	136437805	136437805	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136437805C>T	ENST00000264160.4	+	20	2635	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	R3HDM1_ENST00000409478.1_Silent_p.F627F|R3HDM1_ENST00000409606.1_Silent_p.F756F|R3HDM1_ENST00000329971.3_Silent_p.F626F|R3HDM1_ENST00000410054.1_Silent_p.F700F	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	755							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTGTTATGTTCCCTAATCAGT	0.383000													23	99					0	0	0.681144	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694755	84694755	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:84694755G>A	ENST00000284136.6	-	6	746	c.703C>T	c.(703-705)Cac>Tac	p.H235Y	SEMA3D_ENST00000444867.1_Missense_Mutation_p.H235Y	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	235	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCCAGTAGTGCTCTGAAATG	0.378000													11	38					0	0	0.387290	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834637	61834637	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:61834637T>A	ENST00000370339.3	-	4	996	c.655A>T	c.(655-657)Aac>Tac	p.N219Y	YTHDF1_ENST00000370333.4_Missense_Mutation_p.N169Y|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	219										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTCCCACCGTTGCCAGAAAGG	0.562000													7	56					0	0	0.278610	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979487	68979487	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:68979487C>T	ENST00000433211.1	-	6	895	c.721G>A	c.(721-723)Gtt>Att	p.V241I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V241I|CTNNA3_ENST00000545309.1_Missense_Mutation_p.V241I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	241					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTCACAAACTGTGTCCTTG	0.458000													31	101					0	0	0.740014	0	0
FCGBP	8857	broad.mit.edu	37	19	40419971	40419971	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:40419971C>T	ENST00000221347.6	-	6	3030	c.3023G>A	c.(3022-3024)gGg>gAg	p.G1008E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1008	VWFD 2.					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)			AGCTGGGTCCCCGTTGAAGTT	0.597000													15	34					0	0	0.575678	0	0
TMC3	342125	broad.mit.edu	37	15	81650576	81650576	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:81650576G>A	ENST00000558726.1	-	7	792	c.657C>T	c.(655-657)atC>atT	p.I219I	TMC3_ENST00000359440.5_Silent_p.I219I|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	219						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTCTCCCGATCTTCCTCT	0.493000													33	89					0	0	0.769981	0	0
OR1S1	219959	broad.mit.edu	37	11	57983140	57983140	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:57983140G>A	ENST00000309433.6	+	1	924	c.924G>A	c.(922-924)aaG>aaA	p.K308K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGAGGAATAAGGATATGAAAG	0.433000													36	127					0	0	0.804634	0	0
ITPK1	3705	broad.mit.edu	37	14	93429102	93429102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:93429102G>A	ENST00000267615.6	-	6	630	c.457C>T	c.(457-459)Cca>Tca	p.P153S	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.P153S|ITPK1_ENST00000555495.1_Missense_Mutation_p.P34S|ITPK1_ENST00000354313.3_Missense_Mutation_p.P153S			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	153	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCACTGAATGGGAAAGTCAAG	0.597000													27	68					0	0	0.779181	0	0
FGF9	2254	broad.mit.edu	37	13	22275467	22275467	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:22275467G>A	ENST00000382353.5	+	3	1050	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	174					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GACCCCGAGAGAAGGGACTAG	0.423000													14	59					0	0	0.500413	0	0
MLF1	4291	broad.mit.edu	37	3	158317861	158317861	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:158317861T>A	ENST00000359117.5	+	5	628	c.392T>A	c.(391-393)aTt>aAt	p.I131N	MLF1_ENST00000471745.1_Missense_Mutation_p.I146N|MLF1_ENST00000469452.1_Missense_Mutation_p.I88N|MLF1_ENST00000478894.2_Missense_Mutation_p.I146N|MLF1_ENST00000484955.1_Missense_Mutation_p.I131N|MLF1_ENST00000355893.5_Missense_Mutation_p.I156N|MLF1_ENST00000392822.3_Missense_Mutation_p.I187N|MLF1_ENST00000482628.1_Missense_Mutation_p.I131N|MLF1_ENST00000497004.1_3'UTR	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	156					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAAATGGCTATTGGTCATCAT	0.318000			T	NPM1	AML								31	68					0	0	0.769981	0	0
SNTB1	6641	broad.mit.edu	37	8	121587439	121587439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:121587439C>T	ENST00000395601.3	-	5	1437	c.1023G>A	c.(1021-1023)tgG>tgA	p.W341*	SNTB1_ENST00000517992.1_Nonsense_Mutation_p.W341*|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	341	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGGCTGGTTTCCACTGTTTCT	0.493000													40	152					0	0	0.870114	0	0
COL7A1	1294	broad.mit.edu	37	3	48617056	48617056	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:48617056C>T	ENST00000328333.8	-	58	5307	c.5200G>A	c.(5200-5202)Ggt>Agt	p.G1734S	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1734S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1734	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGATCACCCTTGGGCCCT	0.627000													7	23					0	0	0.307466	0	0
ENTHD2	146705	broad.mit.edu	37	17	79205475	79205475	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:79205475G>A	ENST00000374769.2	-	10	943	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000300714.3_Silent_p.L240L|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		CAGTCACTCAGGGCCACCACC	0.642000													6	14					0	0	0.217242	0	0
CCDC132	55610	broad.mit.edu	37	7	92987678	92987678	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:92987678C>T	ENST00000544910.1	+	29	2955	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	CCDC132_ENST00000535481.1_Missense_Mutation_p.S662F|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.S942F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	942										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTGGGATCCCATATCAAT	0.378000													31	113					0	0	0.750413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				112	80					0	0	0.870114	0	0
TES	26136	broad.mit.edu	37	7	115889119	115889119	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:115889119C>T	ENST00000358204.4	+	3	374	c.159C>T	c.(157-159)gtC>gtT	p.V53V	TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Silent_p.V44V|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	53					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGCATGATGTCCTCTTGAGCA	0.338000													27	105					0	0	0.681144	0	0
LIPI	149998	broad.mit.edu	37	21	15517001	15517001	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:15517001G>A	ENST00000344577.2	-	9	1326	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	LIPI_ENST00000536861.1_Missense_Mutation_p.S413F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	413					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCATGTGGAACACTGCAG	0.308000													13	63					0	0	0.520397	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369385	86369385	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:86369385C>T	ENST00000400286.2	-	2	1857	c.1259G>A	c.(1258-1260)gGt>gAt	p.G420D		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	420						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGGTGGTTACCATTTAGATA	0.353000													8	25					0	0	0.335167	0	0
FMO3	2328	broad.mit.edu	37	1	171086285	171086285	+	Missense_Mutation	SNP	G	G	A	rs72549332		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:171086285G>A	ENST00000367755.4	+	9	1413	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	FMO3_ENST00000538429.1_Missense_Mutation_p.M371I|FMO3_ENST00000392085.2_Missense_Mutation_p.M434I|FMO3_ENST00000542847.1_Missense_Mutation_p.M414I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	434			M -> I (in TMAU; profoundly alters enzyme function).		xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTTTATATGGATGAACTCT	0.453000													41	64					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141816566	141816566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:141816566C>T	ENST00000389484.3	-	9	2265	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	432					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTAGTTATCAGAATTGGTT	0.294000										TSP Lung(27;0.18)			19	101					0	0	0.624587	0	0
OR2L3	391192	broad.mit.edu	37	1	248224678	248224678	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:248224678G>A	ENST00000359959.3	+	1	695	c.695G>A	c.(694-696)gGg>gAg	p.G232E	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTGCAGAAGGGAGGAAGAAA	0.468000													98	107					0	0	0.870114	0	0
AGAP6	414189	broad.mit.edu	37	10	51769428	51769428	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:51769428C>T	ENST00000374056.4	+	7	1872	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	AGAP6_ENST00000412531.3_Missense_Mutation_p.R515C			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	515					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCACCTTTCCCGTGTGCGATC	0.527000													68	178					0	0	0.870114	0	0
CD68	968	broad.mit.edu	37	17	7484807	7484807	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:7484807C>T	ENST00000250092.6	+	6	1254	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CD68_ENST00000380498.6_Missense_Mutation_p.P321L	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	348						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CGGAGACGCCCATCCGCCTAC	0.597000													37	83					0	0	0.834066	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995266	140995266	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:140995266C>T	ENST00000285879.4	+	4	2362	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	692							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTCCTCTCCAAATTCCTC	0.567000										HNSCC(15;0.026)			20	17					0	0	0.592651	0	0
HYPK	25764	broad.mit.edu	37	15	44093371	44093371	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:44093371A>G	ENST00000406925.1	+	3	4339	c.228A>G	c.(226-228)aaA>aaG	p.K76K	HYPK_ENST00000442995.2_Silent_p.K76K|HYPK_ENST00000458412.1_Intron|HYPK_ENST00000498605.1_3'UTR|SERF2_ENST00000600633.1_Silent_p.K76K|SERF2_ENST00000594896.1_Silent_p.K122K					huntingtin interacting protein K														all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GGGAGCAGAAAGCCAAACAGG	0.473000													19	56					0	0	0.639603	0	0
CCR5	1234	broad.mit.edu	37	3	46414783	46414783	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:46414783C>T	ENST00000343801.4	+	3	747	c.390C>T	c.(388-390)gtC>gtT	p.V130V	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.V130V|CCR5_ENST00000445772.1_Silent_p.V130V	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	130					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478000													43	139					0	0	0.870114	0	0
RP1	6101	broad.mit.edu	37	8	55541939	55541939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:55541939G>A	ENST00000220676.1	+	4	5645	c.5497G>A	c.(5497-5499)Gac>Aac	p.D1833N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1833					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTCATGAGGACTTGCTGGA	0.428000													19	68					0	0	0.608945	0	0
DNAH9	1770	broad.mit.edu	37	17	11622662	11622662	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:11622662C>T	ENST00000262442.3	+	27	5632	c.5564C>T	c.(5563-5565)aCc>aTc	p.T1855I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T1855I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1855	AAA 1 (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)		TGCTACATCACCCTCACCCAG	0.617000													8	40					0	0	0.278610	0	0
XDH	7498	broad.mit.edu	37	2	31621549	31621549	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:31621549C>T	ENST00000379416.3	-	5	371	c.323G>A	c.(322-324)aGc>aAc	p.S108N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	108					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGAGCCGTGGCTTTTGGCAAT	0.552000													32	107					0	0	0.840704	0	0
LRRC27	80313	broad.mit.edu	37	10	134175040	134175040	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:134175040C>A	ENST00000368610.3	+	8	1064	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	LRRC27_ENST00000368612.1_Missense_Mutation_p.P355Q|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.P417Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.P290Q|LRRC27_ENST00000368613.4_Missense_Mutation_p.P417Q			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	417										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AAAATGAAACCAAGCAAAGAG	0.483000													18	63					1.33834e-09	1.35873e-09	0.557998	1	0
FMNL2	114793	broad.mit.edu	37	2	153468117	153468117	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:153468117G>A	ENST00000288670.9	+	11	1427	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	354	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CGAATACTTGGACGTGAGTAT	0.383000													3	7					0	0	0.115264	0	0
MALAT1	378938	broad.mit.edu	37	11	65271563	65271563	+	RNA	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:65271563G>T	ENST00000534336.1	+	0	6331					NR_002819.2																						ATAGGGAAGGGAGGGGGTGCC	0.383000													5	22					0.014758	0.014839	0.184627	1	0
OR1N2	138882	broad.mit.edu	37	9	125316247	125316247	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125316247C>T	ENST00000373688.2	+	1	857	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGTGGTTCTGCTCTTCTATGG	0.473000													25	74					0	0	0.706142	0	0
C2orf16	84226	broad.mit.edu	37	2	27803477	27803477	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:27803477A>G	ENST00000408964.2	+	1	4089	c.4038A>G	c.(4036-4038)caA>caG	p.Q1346Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1346										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)					AACCTTCCCAACCCAAGTTCA	0.468000													13	41					0	0	0.411799	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432661	104432661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:104432661C>T	ENST00000361820.3	-	3	2633	c.2033G>A	c.(2032-2034)tGg>tAg	p.W678*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	678					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AATCCCCAGCCACATTGTCCA	0.522000													35	75					0	0	0.779181	0	0
GPC5	2262	broad.mit.edu	37	13	93518536	93518536	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:93518536G>A	ENST00000377067.3	+	8	1935	c.1561_splice	c.e8-1	p.W521_splice		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	521						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTCTACAGGGATGCCAGATG	0.428000													18	68					0	0	0.608945	0	0
LY75	4065	broad.mit.edu	37	2	160729052	160729052	+	Missense_Mutation	SNP	C	C	T	rs115433124	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:160729052C>T	ENST00000263636.4	-	13	2054	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	LY75_ENST00000554112.1_Missense_Mutation_p.R676Q|LY75_ENST00000553424.1_Missense_Mutation_p.R676Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R676Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R676Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTGGCAGAATCGTTCAGCTTC	0.353000													37	91					0	0	0.870114	0	0
TRBV28	28559	broad.mit.edu	37	7	142428721	142428721	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:142428721G>A	ENST00000390400.2	+	0	101																											CCCAGAGCTCGAGATATCTAG	0.453000													29	14					0	0	0.779181	0	0
ACSL1	2180	broad.mit.edu	37	4	185678843	185678843	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:185678843G>A	ENST00000515030.1	-	20	2227	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	ACSL1_ENST00000507295.1_Silent_p.I600I|ACSL1_ENST00000513317.1_Silent_p.I634I|ACSL1_ENST00000504342.1_Silent_p.I634I|ACSL1_ENST00000454703.2_Silent_p.I463I|ACSL1_ENST00000437665.3_Silent_p.I463I|ACSL1_ENST00000281455.2_Silent_p.I634I			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	634					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TATCTTCGAGGATAGCTTTTT	0.373000													42	172					0	0	0.870114	0	0
USP31	57478	broad.mit.edu	37	16	23080775	23080775	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:23080775G>A	ENST00000219689.7	-	16	2650	c.2651C>T	c.(2650-2652)tCa>tTa	p.S884L	USP31_ENST00000567975.1_Missense_Mutation_p.S177L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	884	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAATCCCCTGAAAATCGGGA	0.522000													7	33					0	0	0.278610	0	0
IL7R	3575	broad.mit.edu	37	5	35875626	35875626	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:35875626C>T	ENST00000343305.4	+	6	808	c.719C>T	c.(718-720)tCg>tTg	p.S240L	IL7R_ENST00000506850.1_Missense_Mutation_p.S240L|IL7R_ENST00000303115.3_Silent_p.I271I			P16871	IL7RA_HUMAN	interleukin 7 receptor	0					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTAAGCCTATCGTATGGCCCA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						11	35					0	0	0.411799	0	0
ATP12A	479	broad.mit.edu	37	13	25284731	25284731	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:25284731G>A	ENST00000218548.6	+	20	3248	c.2915_splice	c.e20+1	p.R972_splice	ATP12A_ENST00000381946.3_Splice_Site_p.R966_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	966					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGTCTCTTCAGGTACTGCCTG	0.527000													32	81					0	0	0.819951	0	0
TTN	7273	broad.mit.edu	37	2	179643972	179643972	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:179643972C>T	ENST00000589042.1	-	23	4171	c.3947G>A	c.(3946-3948)gGa>gAa	p.G1316E	TTN_ENST00000359218.5_Missense_Mutation_p.G1270E|TTN_ENST00000342992.6_Missense_Mutation_p.G1316E|TTN_ENST00000591111.1_Missense_Mutation_p.G1316E|TTN_ENST00000342175.6_Missense_Mutation_p.G1270E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G1316E|TTN_ENST00000460472.2_Missense_Mutation_p.G1270E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1316	Ig-like 5.						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)			TAATGGATATCCAGACATCTT	0.303000													18	48					0	0	0.667858	0	0
NEK8	284086	broad.mit.edu	37	17	27066202	27066202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:27066202G>A	ENST00000268766.6	+	10	1434	c.1400G>A	c.(1399-1401)tGg>tAg	p.W467*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	467						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTATTTGCCTGGGGCCGTGGA	0.597000													39	107					0	0	0.864702	0	0
MYO7B	4648	broad.mit.edu	37	2	128346007	128346007	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:128346007C>T	ENST00000389524.4	+	15	1784	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	MYO7B_ENST00000428314.1_Silent_p.I577I|MYO7B_ENST00000409816.2_Silent_p.I577I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	577	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.I577I(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACAGATATCCTCACCCTGG	0.557000													7	34					0	0	0.307466	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077105	144077105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:144077105C>T	ENST00000056217.5	+	15	4924	c.4750C>T	c.(4750-4752)Cga>Tga	p.R1584*	ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R506*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1584					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAAGCTCATCGAGTCAAGAC	0.547000													24	172					0	0	0.667858	0	0
NRG3	10718	broad.mit.edu	37	10	84744883	84744883	+	Missense_Mutation	SNP	G	G	A	rs117241349		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:84744883G>A	ENST00000372142.2	+	11	1296	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	NRG3_ENST00000404547.1_Missense_Mutation_p.R562Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R368Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R538Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R188Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R188Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R342Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	562					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R538Q(1)|p.R341Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAAACCCAACGAAATACATCA	0.408000													48	173					0	0	0.870114	0	0
CES1P1	51716	broad.mit.edu	37	16	55806303	55806303	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:55806303G>A	ENST00000571348.1	+	0	605					NR_003276.2																						ACACAGCCCGGGGAACTGGGG	0.587000													3	15					0	0	0.115264	0	0
UNC13C	440279	broad.mit.edu	37	15	54306371	54306371	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:54306371C>T	ENST00000545554.1	+	1	1271	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	UNC13C_ENST00000260323.11_Missense_Mutation_p.S424F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S424F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	424					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATACCATCCTCCCAGACATAT	0.378000													22	66					0	0	0.624587	0	0
UBBP4	23666	broad.mit.edu	37	17	21731231	21731231	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:21731231T>G	ENST00000584755.1	+	2	930	c.533T>G	c.(532-534)gTg>gGg	p.V178G	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCGAAAATGTGAAGGCCAAG	0.537000													15	55					0	0	0.539581	0	0
CPED1	79974	broad.mit.edu	37	7	120876767	120876767	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:120876767G>A	ENST00000310396.5	+	17	2522		c.e17-1		CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTTAATGCAGGATTGTGGTT	0.313000													20	146					0	0	0.667858	0	0
ABCC6	368	broad.mit.edu	37	16	16259745	16259745	+	Missense_Mutation	SNP	G	G	A	rs150583228		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:16259745G>A	ENST00000205557.7	-	23	3070	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1014	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGATGCCCGGGCCCCACCTAG	0.627000													9	28					0	0	0.361761	0	0
C8A	731	broad.mit.edu	37	1	57373700	57373700	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:57373700G>A	ENST00000361249.3	+	9	1390	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	432	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGCTGGAGCGGTGGCTTGGC	0.493000													19	48					0	0	0.608945	0	0
ROS1	6098	broad.mit.edu	37	6	117710685	117710685	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:117710685G>A	ENST00000368508.3	-	12	1785	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I538I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	529					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACATCCCACGATGAATTCAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								15	46					0	0	0.479597	0	0
NPC1	4864	broad.mit.edu	37	18	21141429	21141429	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21141429G>T	ENST00000269228.5	-	5	1080	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	176					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCCCACACAGGAGTCCCAGG	0.498000													32	107					8.69298e-16	8.88696e-16	0.827153	1	0
KIAA1804	84451	broad.mit.edu	37	1	233518133	233518133	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:233518133G>A	ENST00000366624.3	+	10	3048	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	MLK4_ENST00000366622.1_Silent_p.R375R	NM_032435.2	NP_115811.2																					ATCTGCCAAGGGAGGTCTCAC	0.582000													31	75					0	0	0.779181	0	0
CYP2J2	1573	broad.mit.edu	37	1	60359334	60359334	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:60359334G>A	ENST00000371204.3	-	9	1541	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	500					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TACACCTGAGGAACAGCGCAG	0.468000													76	318					0	0	0.870114	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997575	19997575	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:19997575C>T	ENST00000391403.2	-	1	303	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	67						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGAACAAGGCTAAATTTTTC	0.383000													26	74					0	0	0.681144	0	0
TLL1	7092	broad.mit.edu	37	4	166914029	166914029	+	Silent	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:166914029T>A	ENST00000061240.2	+	3	1001	c.354T>A	c.(352-354)atT>atA	p.I118I	TLL1_ENST00000507499.1_Silent_p.I118I|TLL1_ENST00000513213.1_Silent_p.I118I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	118					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TAAGAAGAATTGGCTTTGGTA	0.363000													9	41					0	0	0.307466	0	0
GPR75	10936	broad.mit.edu	37	2	54080990	54080990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:54080990G>A	ENST00000394705.2	-	2	1174	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	302						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCTGGAGTCGGCTTGCTGCA	0.537000													11	39					0	0	0.387290	0	0
RTEL1	51750	broad.mit.edu	37	20	62298828	62298828	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:62298828C>T	ENST00000318100.4	+	8	1448	c.621C>T	c.(619-621)tgC>tgT	p.C207C	RTEL1_ENST00000508582.2_Silent_p.C231C|RTEL1_ENST00000360203.5_Silent_p.C207C|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.C207C|RTEL1_ENST00000370018.3_Silent_p.C207C			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	207	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGGGTGTGCCCTTACTACC	0.582000													33	187					0	0	0.827153	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453073	64453073	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:64453073G>A	ENST00000394323.2	-	2	832	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cttgccagagggaaatacctt	0.438000													10	31					0	0	0.335167	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:20295729G>A	ENST00000568211.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					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)		ATCCTCCCTGGAAATTTTCTC	0.448000													60	402					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13871743	13871743	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:13871743G>A	ENST00000265104.4	-	23	3632	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1174fs*8(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAGGTTTTGGAAATAGAGAA	0.383000									Kartagener syndrome				20	46					0	0	0.654019	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693413	187693413	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:187693413C>T	ENST00000295131.2	-	9	1239	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	400					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTTGTCCATTCACTGCTGAAT	0.363000													13	42					0	0	0.457914	0	0
ZNF445	353274	broad.mit.edu	37	3	44490172	44490172	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:44490172C>T	ENST00000425708.2	-	7	1332	c.991G>A	c.(991-993)Gca>Aca	p.A331T	ZNF445_ENST00000396077.2_Missense_Mutation_p.A331T			P59923	ZN445_HUMAN	zinc finger protein 445	331					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAGGTTTCTGCTTCTTCCAAA	0.408000													12	29					0	0	0.435327	0	0
POLN	353497	broad.mit.edu	37	4	2087471	2087471	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:2087471C>T	ENST00000511885.2	-	21	2419	c.2065_splice	c.e21-1	p.G689_splice	POLN_ENST00000382865.1_Splice_Site_p.G689_splice			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	689					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCGCTCCTTCCCTGTCAGTCA	0.527000								DNA polymerases (catalytic subunits)					23	70					0	0	0.654019	0	0
ZNF836	162962	broad.mit.edu	37	19	52660119	52660119	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:52660119G>A	ENST00000322146.8	-	5	1338	c.817C>T	c.(817-819)Cca>Tca	p.P273S	ZNF836_ENST00000597252.1_Missense_Mutation_p.P273S|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTGATATGGCTTCCCCCTT	0.408000													9	52					0	0	0.335167	0	0
SALL2	6297	broad.mit.edu	37	14	21991801	21991801	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:21991801G>A	ENST00000327430.3	-	2	2355	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	SALL2_ENST00000450879.2_Silent_p.A550A|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	687							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TCTGTGCCCGGGCAGCTGGAC	0.592000													22	55					0	0	0.667858	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413940	121413940	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:121413940C>T	ENST00000393667.3	-	13	5540	c.5430G>A	c.(5428-5430)atG>atA	p.M1810I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.M1805I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1805					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTTGTGCTCATACTCAGAG	0.448000													52	145					0	0	0.870114	0	0
PCDH15	65217	broad.mit.edu	37	10	55582906	55582906	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:55582906G>A	ENST00000361849.3	-	34	4980	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	PCDH15_ENST00000395433.1_Missense_Mutation_p.P1504L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1487L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1524L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1458L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1527L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1527					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATAAAGGGGATTATGGGC	0.368000										HNSCC(58;0.16)			19	95					0	0	0.557998	0	0
AFMID	125061	broad.mit.edu	37	17	76187085	76187085	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:76187085T>C	ENST00000409257.5	+	2	152	c.98T>C	c.(97-99)gTt>gCt	p.V33A	AFMID_ENST00000327898.5_Missense_Mutation_p.V33A|AFMID_ENST00000591952.1_Missense_Mutation_p.V33A|AFMID_ENST00000589256.1_Missense_Mutation_p.V33A|AFMID_ENST00000588800.1_Missense_Mutation_p.V33A|AFMID_ENST00000586731.1_Missense_Mutation_p.V16A	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	33						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGCCGATGGGTTGTCCGACTG	0.557000													11	28					0	0	0.411799	0	0
FAM9C	171484	broad.mit.edu	37	X	13058954	13058954	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:13058954C>T	ENST00000333995.3	-	5	382	c.252G>A	c.(250-252)agG>agA	p.R84R	FAM9C_ENST00000380625.3_Silent_p.R84R|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	84						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCTTTTCAATCCTTTTTCTCT	0.294000													6	4					0	0	0.278610	0	0
WDR24	84219	broad.mit.edu	37	16	739604	739604	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:739604C>T	ENST00000293883.4	-	1	796	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	WDR24_ENST00000248142.6_Missense_Mutation_p.G75S|LA16c-313D11.12_ENST00000566927.1_RNA	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	75										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGCACGCTGCCACCCAGGGCT	0.662000													8	24					0	0	0.307466	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30521536	30521536	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:30521536C>T	ENST00000399935.2	+	8	764	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P133S|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.P133S|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		AGACTCCATTCCTTTGGTCTT	0.423000													26	66					0	0	0.796494	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Silent_p.I740I|LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000371058.1_Silent_p.I740I|LEPR_ENST00000344610.8_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													13	48					0	0	0.457914	0	0
NFASC	23114	broad.mit.edu	37	1	204949556	204949556	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:204949556G>A	ENST00000367172.4	+	20	2563	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	NFASC_ENST00000360049.4_Silent_p.E741E|NFASC_ENST00000404076.1_Silent_p.E724E|NFASC_ENST00000338515.6_Silent_p.E745E|NFASC_ENST00000367171.4_Silent_p.E730E|NFASC_ENST00000338586.6_Silent_p.E745E|NFASC_ENST00000367169.4_Silent_p.E745E|NFASC_ENST00000339876.6_Silent_p.E745E|NFASC_ENST00000367170.4_Silent_p.E745E|NFASC_ENST00000401399.1_Silent_p.E745E|NFASC_ENST00000539706.1_Silent_p.E741E|NFASC_ENST00000404907.1_Silent_p.E741E|NFASC_ENST00000513543.1_Silent_p.E741E			O94856	NFASC_HUMAN	neurofascin	745	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAACATGGAGATCACGTGGA	0.602000													4	32					0	0	0.217242	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457224	110457224	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110457224C>T	ENST00000378402.5	+	38	5230	c.5126C>T	c.(5125-5127)gCc>gTc	p.A1709V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1709	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTATACGGCCATTGAATGT	0.458000										HNSCC(38;0.096)			32	287					0	0	0.779181	0	0
ABCC9	10060	broad.mit.edu	37	12	21998572	21998572	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:21998572C>T	ENST00000261200.4	-	24	3060	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	ABCC9_ENST00000261201.4_Missense_Mutation_p.E1021K|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.E985K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1021	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATACTGTACTCCGATGTCCAT	0.383000													20	53					0	0	0.681144	0	0
TENM3	55714	broad.mit.edu	37	4	183652273	183652273	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:183652273C>T	ENST00000511685.1	+	16	3071	c.2948C>T	c.(2947-2949)cCc>cTc	p.P983L	TENM3_ENST00000406950.2_Missense_Mutation_p.P983L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GAAGACAGTCCCATCATTCCC	0.398000													4	42					0	0	0.150653	0	0
MAN2B1	4125	broad.mit.edu	37	19	12757510	12757510	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:12757510G>A	ENST00000456935.2	-	24	3000	c.2960C>T	c.(2959-2961)cCg>cTg	p.P987L	CTD-2192J16.22_ENST00000597692.1_Silent_p.P173P|MAN2B1_ENST00000221363.4_Missense_Mutation_p.P986L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	987					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGTTGGCCGGGTCCAGCTG	0.602000													33	36					0	0	0.779181	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98383249	98383249	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:98383249G>A	ENST00000339364.5	-	11	1834	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S171F|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S394F	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	572						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCTCTCTGAGGAAACGTAGAA	0.363000													67	223					0	0	0.870114	0	0
IARS	3376	broad.mit.edu	37	9	95022473	95022473	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:95022473G>A	ENST00000375643.3	-	18	2097	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S	IARS_ENST00000447699.2_Missense_Mutation_p.P501S|IARS_ENST00000443024.2_Missense_Mutation_p.P611S|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	611					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)	ATGGAAACTGGATCTGGATAA	0.378000													20	108					0	0	0.639603	0	0
A2ML1	144568	broad.mit.edu	37	12	9013766	9013766	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:9013766G>A	ENST00000299698.7	+	28	3555	c.3375G>A	c.(3373-3375)aaG>aaA	p.K1125K	A2ML1_ENST00000539547.1_Silent_p.K634K	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	969						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGTGTCTCAAGAATTCGGCCA	0.448000													34	66					0	0	0.760397	0	0
PLCB1	23236	broad.mit.edu	37	20	8717804	8717804	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:8717804C>T	ENST00000378641.3	+	20	2648	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P725S|PLCB1_ENST00000338037.6_Missense_Mutation_p.P725S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	725	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTGTGAATCCTGTCTGGGA	0.388000													20	105					0	0	0.608945	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929310	135929310	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:135929310C>T	ENST00000372097.5	+	6	1292	c.969C>T	c.(967-969)atC>atT	p.I323I	GTF3C5_ENST00000372108.5_Silent_p.I323I|GTF3C5_ENST00000342018.8_Silent_p.I254I|GTF3C5_ENST00000372095.5_Silent_p.I198I|GTF3C5_ENST00000372099.6_Silent_p.I314I	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	323						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATTTCCGAATCCGTTGTGGAA	0.438000													12	37					0	0	0.435327	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													3	28					0	0	0.115264	0	0
RALGPS1	9649	broad.mit.edu	37	9	129937044	129937044	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:129937044C>T	ENST00000259351.5	+	11	1160	c.893C>T	c.(892-894)tCc>tTc	p.S298F	RALGPS1_ENST00000424082.2_Missense_Mutation_p.S298F|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S298F|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S298F|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S298F	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	298					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTAGTCTCTTCCAAGGAAGAT	0.493000													30	78					0	0	0.750413	0	0
GPR110	266977	broad.mit.edu	37	6	46977696	46977696	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46977696G>A	ENST00000371253.2	-	11	1690	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L	GPR110_ENST00000283297.5_Missense_Mutation_p.P295L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTGGAAACGGGTAGAATGTT	0.418000													41	60					0	0	0.870114	0	0
RNF26	79102	broad.mit.edu	37	11	119207129	119207129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:119207129C>T	ENST00000311413.4	+	1	1893	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	433							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAATGTCTACCTCTGAAGCCT	0.622000													15	49					0	0	0.479597	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509004	102509004	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:102509004C>T	ENST00000360184.4	+	69	12596	c.12432C>T	c.(12430-12432)atC>atT	p.I4144I	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4144	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGGCCGCATCTTTGTGTTCG	0.577000													15	44					0	0	0.575678	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687178	68687178	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:68687178C>T	ENST00000361320.4	+	2	1082	c.504C>T	c.(502-504)tcC>tcT	p.S168S	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	168						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTCTAACTCCCTGAGAACCA	0.483000													28	80					0	0	0.706142	0	0
SCN9A	6335	broad.mit.edu	37	2	167149869	167149869	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:167149869C>T	ENST00000375387.4	-	9	1322	c.982G>A	c.(982-984)Ggg>Agg	p.G328R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G327R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G327R|SCN9A_ENST00000303354.6_Missense_Mutation_p.G328R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	327						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGTGTACCCCTCTGGACAC	0.438000													12	16					0	0	0.457914	0	0
RBM47	54502	broad.mit.edu	37	4	40440440	40440440	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:40440440C>T	ENST00000319592.4	-	4	1180	c.471G>A	c.(469-471)ggG>ggA	p.G157G	RBM47_ENST00000514014.1_Silent_p.G119G|RBM47_ENST00000295971.7_Silent_p.G157G|RBM47_ENST00000381795.6_Silent_p.G157G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.G157G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	157	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCTTGGGGATCCCGCCGATGA	0.642000													21	38					0	0	0.654019	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356715	47356715	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:47356715G>A	ENST00000545968.1	-	27	2837	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L	MYBPC3_ENST00000256993.4_Missense_Mutation_p.S927L|MYBPC3_ENST00000399249.2_Missense_Mutation_p.S928L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	927	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCAGTATCGATGTGTGCTC	0.667000													12	36					0	0	0.457914	0	0
TCP10	6953	broad.mit.edu	37	6	167786710	167786710	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:167786710C>T	ENST00000397829.4	-	8	1095	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	337						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGGAAATTCACTCGGGAAA	0.552000													8	52					0	0	0.411799	0	0
ERAL1	26284	broad.mit.edu	37	17	27185480	27185480	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:27185480C>T	ENST00000254928.5	+	6	784	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	229	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACTCCCAGATCCCTAGTGTCC	0.542000													32	98					0	0	0.750413	0	0
ELL2	22936	broad.mit.edu	37	5	95236439	95236439	+	Silent	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:95236439T>C	ENST00000237853.4	-	7	1261	c.912A>G	c.(910-912)gaA>gaG	p.E304E	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	304					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATACAGGAGATTCTGAACGGC	0.393000													18	26					0	0	0.667858	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913092	54913092	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:54913092G>A	ENST00000474759.1	+	19	1806	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.E586E|CACNA2D3_ENST00000490478.1_Silent_p.E492E|CACNA2D3_ENST00000415676.2_Silent_p.E586E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	586						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTCCATGGAGGTGAAGAAGA	0.353000													5	23					0	0	0.217242	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221332	1221332	+	Silent	SNP	C	C	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:1221332C>G	ENST00000304460.10	+	11	1661	c.1605C>G	c.(1603-1605)cgC>cgG	p.R535R		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	535					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	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)			TCACGTGGCGCGTGGTCAGCC	0.547000													11	25					0	0	0.387290	0	0
ADCY10	55811	broad.mit.edu	37	1	167815256	167815256	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:167815256G>A	ENST00000367848.1	-	20	2904	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.R895C|ADCY10_ENST00000545172.1_Missense_Mutation_p.R742C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	895					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GACAAGGAACGATAGTGCACC	0.458000													12	63					0	0	0.435327	0	0
RYR2	6262	broad.mit.edu	37	1	237632406	237632406	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:237632406G>A	ENST00000366574.2	+	17	1944	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	RYR2_ENST00000542537.1_Missense_Mutation_p.G527R|RYR2_ENST00000360064.6_Missense_Mutation_p.G541R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	543					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTAATTAGAGGAAATCGTAA	0.373000													10	61					0	0	0.387290	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50988169	50988169	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:50988169C>T	ENST00000395676.2	+	1	1708	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	525										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTCCCTGCCCCTGCCCGCC	0.692000													5	29					0	0	0.307466	0	0
COL17A1	1308	broad.mit.edu	37	10	105800169	105800169	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:105800169C>T	ENST00000353479.5	-	40	2992		c.e40-1		COL17A1_ENST00000369733.3_Splice_Site	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1						cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGGTTTCTGCAGAGGAA	0.522000													19	51					0	0	0.592651	0	0
RPL3	6122	broad.mit.edu	37	22	39713525	39713525	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:39713525G>A	ENST00000216146.4	-	3	479	c.306C>T	c.(304-306)ttC>ttT	p.F102F	RPL3_ENST00000401609.1_Silent_p.F50F|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	102					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.F102F(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					AGACAGTCTTGAAGGTCCGGA	0.542000													70	152					0	0	0.870114	0	0
ZNF490	57474	broad.mit.edu	37	19	12692441	12692441	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:12692441G>A	ENST00000311437.6	-	5	570	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AATCCAGTAGGAGTTTCCAGG	0.433000													57	96					0	0	0.870114	0	0
CNRIP1	25927	broad.mit.edu	37	2	68520995	68520995	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:68520995C>T	ENST00000263655.3	-	3	1099	c.494G>A	c.(493-495)tGa>tAa	p.*165*	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GAGCCACTTTCAGAGGAAGGA	0.478000													18	67					0	0	0.575678	0	0
AIM1	202	broad.mit.edu	37	6	106975229	106975229	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:106975229G>A	ENST00000369066.3	+	5	3725	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1080	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CATCCCCTTAGAAGAAGGAGA	0.423000													37	138					0	0	0.847076	0	0
NLRX1	79671	broad.mit.edu	37	11	119045723	119045723	+	Missense_Mutation	SNP	C	C	T	rs145673513	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:119045723C>T	ENST00000409109.1	+	6	1998	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	NLRX1_ENST00000409991.1_Missense_Mutation_p.R471W|NLRX1_ENST00000292199.2_Missense_Mutation_p.R471W|NLRX1_ENST00000525863.1_Missense_Mutation_p.R471W|NLRX1_ENST00000409265.4_Missense_Mutation_p.R471W			Q86UT6	NLRX1_HUMAN	NLR family member X1	471	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATCTTCCGTCGGGATGCCCT	0.612000													16	38					0	0	0.479597	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147101	55147101	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:55147101C>T	ENST00000370862.3	+	7	1520	c.1184C>T	c.(1183-1185)aCc>aTc	p.T395I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	395					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)			GATCGGCTCACCAGGGGACGA	0.463000													12	65					0	0	0.457914	0	0
MACF1	23499	broad.mit.edu	37	1	39781189	39781189	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:39781189C>T	ENST00000564288.1	+	27	4052	c.3275C>T	c.(3274-3276)aCc>aTc	p.T1092I	MACF1_ENST00000567887.1_Missense_Mutation_p.T1129I|MACF1_ENST00000361689.2_Missense_Mutation_p.T1097I|MACF1_ENST00000545844.1_Missense_Mutation_p.T1097I|MACF1_ENST00000539005.1_Missense_Mutation_p.T1097I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.T1097I|MACF1_ENST00000317713.7_Missense_Mutation_p.T1097I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1097					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGCAGCACACCCAGGAGGAT	0.413000													27	97					0	0	0.750413	0	0
NID1	4811	broad.mit.edu	37	1	236157146	236157146	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:236157146C>T	ENST00000264187.6	-	13	2636	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	NID1_ENST00000366595.3_Missense_Mutation_p.E719K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	852	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGTTCTCGCTCGTGCTGGCAC	0.632000													8	27					0	0	0.307466	0	0
KCNG1	3755	broad.mit.edu	37	20	49621205	49621205	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:49621205C>T	ENST00000371571.4	-	3	1198	c.913G>A	c.(913-915)Gac>Aac	p.D305N	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	305						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACCAGGTCGATCAGCGTC	0.677000													3	11					0	0	0.115264	0	0
ME1	4199	broad.mit.edu	37	6	83926249	83926249	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:83926249T>A	ENST00000369705.3	-	13	1632	c.1516A>T	c.(1516-1518)Att>Ttt	p.I506F	ME1_ENST00000543031.1_Missense_Mutation_p.I431F|ME1_ENST00000541327.1_Missense_Mutation_p.I340F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	506					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACATCTCTAATGGTATTCAAA	0.318000													24	106					0	0	0.729181	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335788	117335788	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117335788C>T	ENST00000321322.6	-	17	3316	c.3315G>A	c.(3313-3315)acG>acA	p.T1105T	DSCAML1_ENST00000527706.1_Silent_p.T835T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1045	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCTGTCCCCCGTGGCCTTCA	0.612000													24	86					0	0	0.729181	0	0
INADL	10207	broad.mit.edu	37	1	62349956	62349956	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:62349956C>T	ENST00000371158.2	+	22	3121	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	INADL_ENST00000316485.6_Missense_Mutation_p.P1003S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1003					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTGACCTTCCTGTTGTGGC	0.463000													33	100					0	0	0.804634	0	0
TTK	7272	broad.mit.edu	37	6	80724181	80724181	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:80724181C>T	ENST00000509894.1	+	10	1815	c.984_splice	c.e10-1	p.S329_splice	TTK_ENST00000515751.1_3'UTR|TTK_ENST00000369798.2_Splice_Site_p.S329_splice|TTK_ENST00000230510.3_Splice_Site_p.S329_splice			P33981	TTK_HUMAN	TTK protein kinase	329					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCATGTAGTCTGTTCAAAAT	0.308000													21	58					0	0	0.624587	0	0
EMID1	129080	broad.mit.edu	37	22	29628311	29628311	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:29628311C>T	ENST00000334018.6	+	8	931	c.743C>T	c.(742-744)cCt>cTt	p.P248L	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.P248L|EMID1_ENST00000404820.3_Missense_Mutation_p.P248L	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	246	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GAGAGGGGACCTCCTGGGCCA	0.697000													24	11					0	0	0.654019	0	0
WNK1	65125	broad.mit.edu	37	12	1006708	1006708	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:1006708C>T	ENST00000537687.1	+	25	7732	c.7089C>T	c.(7087-7089)acC>acT	p.T2363T	WNK1_ENST00000535572.1_Silent_p.T1855T|WNK1_ENST00000530271.2_Silent_p.T2601T|WNK1_ENST00000315939.6_Silent_p.T2103T|WNK1_ENST00000340908.4_Silent_p.T1696T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2103					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTGTATACCAAACTGGGCA	0.448000													8	41					0	0	0.307466	0	0
RNF17	56163	broad.mit.edu	37	13	25367241	25367241	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:25367241G>A	ENST00000255324.5	+	10	1049	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E333K|RNF17_ENST00000255325.5_Missense_Mutation_p.E334K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	333					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAACAAAAAGGAACTTTCTTG	0.358000													17	77					0	0	0.557998	0	0
FILIP1	27145	broad.mit.edu	37	6	76022272	76022272	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:76022272G>A	ENST00000393004.2	-	5	3497	c.3276C>T	c.(3274-3276)gtC>gtT	p.V1092V	FILIP1_ENST00000370020.1_Silent_p.V993V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.V1092V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1092										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTACTGGTCGGACAGTAATAA	0.502000													50	116					0	0	0.870114	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702200	60702200	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:60702200C>T	ENST00000005286.4	+	9	1956	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	TMEM132A_ENST00000453848.2_Silent_p.V600V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	600						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGGCCGTGTCGTGGTGGGCC	0.667000													4	18					0	0	0.150653	0	0
APLP2	334	broad.mit.edu	37	11	130005576	130005576	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:130005576C>T	ENST00000263574.5	+	13	1875	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	APLP2_ENST00000543137.1_Silent_p.P508P|APLP2_ENST00000539648.1_Silent_p.P389P|APLP2_ENST00000345598.5_Silent_p.P372P|APLP2_ENST00000528499.1_Silent_p.P545P|APLP2_ENST00000338167.5_Silent_p.P601P|APLP2_ENST00000278756.7_Silent_p.P611P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	601					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTCCACCCCTTCCACCCCT	0.577000													27	60					0	0	0.769981	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187962	70187962	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:70187962C>T	ENST00000320256.4	-	1	1435	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGAGCACATCAGTGCCAATG	0.572000													32	84					0	0	0.760397	0	0
SMARCC2	6601	broad.mit.edu	37	12	56583179	56583179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:56583179G>A	ENST00000394023.3	-	1	172	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.Q23*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.Q23*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.Q23*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	23					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTCGAACTGGGTCACGGTG	0.731000													17	67					0	0	0.667858	0	0
CCDC178	374864	broad.mit.edu	37	18	30969550	30969550	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:30969550C>A	ENST00000383096.3	-	5	344	c.162G>T	c.(160-162)aaG>aaT	p.K54N	CCDC178_ENST00000406524.2_Missense_Mutation_p.K54N|CCDC178_ENST00000403303.1_Missense_Mutation_p.K54N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K54N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K54N|CCDC178_ENST00000583930.1_Missense_Mutation_p.K54N|CCDC178_ENST00000579916.1_Missense_Mutation_p.K54N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K54N					coiled-coil domain containing 178																		CACTGTTCTCCTTAGAGGCTC	0.264000													26	72					2.46105e-21	2.53009e-21	0.750413	1	0
COL8A1	1295	broad.mit.edu	37	3	99513128	99513128	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:99513128C>T	ENST00000261037.3	+	5	763	c.383C>T	c.(382-384)cCa>cTa	p.P128L	COL8A1_ENST00000273342.4_Missense_Mutation_p.P128L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	128	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GAGCCTGGCCCAAGAGGACCA	0.552000													5	13					0	0	0.184627	0	0
ARMC4	55130	broad.mit.edu	37	10	28101451	28101451	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:28101451C>T	ENST00000305242.5	-	20	3217	c.3125G>A	c.(3124-3126)aGa>aAa	p.R1042K	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Missense_Mutation_p.D608N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1042							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAAGTGTATCTTGCCTTCTC	0.458000													22	70					0	0	0.667858	0	0
LAMA3	3909	broad.mit.edu	37	18	21526249	21526249	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21526249G>A	ENST00000313654.9	+	70	9592		c.e70+1		LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACCAAAGGTAAATAGTTA	0.438000													7	45					0	0	0.278610	0	0
LMO7	4008	broad.mit.edu	37	13	76432095	76432095	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:76432095G>A	ENST00000357063.3	+	31	6219	c.4959G>A	c.(4957-4959)acG>acA	p.T1653T	LMO7_ENST00000605961.1_3'UTR|LMO7_ENST00000465261.2_Silent_p.T1368T|LMO7_ENST00000526202.1_3'UTR|LMO7_ENST00000341547.4_3'UTR|LMO7_ENST00000321797.8_3'UTR|LMO7_ENST00000377534.3_3'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	0	LIM zinc-binding.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCCTCCATACGAAAGCACTGT	0.388000													25	65					0	0	0.760397	0	0
ZNF669	79862	broad.mit.edu	37	1	247264612	247264612	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:247264612G>A	ENST00000358785.4	-	3	570	c.398C>T	c.(397-399)tCg>tTg	p.S133L	ZNF669_ENST00000343381.6_Silent_p.I153I|ZNF669_ENST00000448299.2_Silent_p.I67I|ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000366500.1_Missense_Mutation_p.S47L			Q96BR6	ZN669_HUMAN	zinc finger protein 669	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I153I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTCTGTACGATATGATTTC	0.328000													71	96					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299000													3	113					0	0	0.115264	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010225	10010225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:10010225G>A	ENST00000228438.2	-	3	1018	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	29						integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGAGAATCTCGAGTTAGTTTA	0.318000													12	24					0	0	0.457914	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478951	141478951	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141478951G>T	ENST00000247881.2	+	1	710	c.663G>T	c.(661-663)caG>caT	p.Q221H	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	221					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGAATCCCCAGACGGAAGCTC	0.433000													16	138					1.62849e-17	1.66949e-17	0.500413	1	0
UPK3A	7380	broad.mit.edu	37	22	45683229	45683229	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:45683229C>T	ENST00000216211.4	+	3	417	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	129					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTCACAGATCCTGAATGCCTA	0.612000													6	30					0	0	0.307466	0	0
FGD5	152273	broad.mit.edu	37	3	14861750	14861750	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:14861750G>A	ENST00000285046.5	+	1	1282	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	FGD5_ENST00000543601.1_Missense_Mutation_p.G150E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	391					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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCATGGTGGGGGCTTTGTGT	0.612000													11	29					0	0	0.387290	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136470166	136470166	+	Silent	SNP	C	C	T	rs147742474		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:136470166C>T	ENST00000355849.5	+	1	467	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	19					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TGGACCCCTCCTTCACGCACG	0.731000													4	21					0	0	0.217242	0	0
MBD5	55777	broad.mit.edu	37	2	149248083	149248083	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:149248083G>A	ENST00000407073.1	+	12	5180	c.4183G>A	c.(4183-4185)Gga>Aga	p.G1395R	MBD5_ENST00000404807.1_Missense_Mutation_p.G1628R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1395	PWWP.					chromosome|nucleus	chromatin binding|DNA binding	p.G1395*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAAATCAAAGGACTGACTTC	0.448000													22	50					0	0	0.667858	0	0
CSDE1	7812	broad.mit.edu	37	1	115263252	115263252	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:115263252A>C	ENST00000438362.2	-	17	2476	c.2098T>G	c.(2098-2100)Ttc>Gtc	p.F700V	CSDE1_ENST00000369530.1_Missense_Mutation_p.F669V|CSDE1_ENST00000339438.6_Missense_Mutation_p.F623V|CSDE1_ENST00000534699.1_Missense_Mutation_p.F654V|CSDE1_ENST00000530886.1_Missense_Mutation_p.F524V|CSDE1_ENST00000358528.4_Missense_Mutation_p.F654V|CSDE1_ENST00000261443.5_Missense_Mutation_p.F623V	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	654	CSD 9.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAATTGGAACTTGACGCTC	0.498000													30	90					0	0	0.760397	0	0
DPP10	57628	broad.mit.edu	37	2	116066815	116066815	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:116066815G>A	ENST00000410059.1	+	2	541	c.60_splice	c.e2-1	p.E21_splice	DPP10_ENST00000310323.8_Splice_Site_p.E14_splice|DPP10_ENST00000393147.2_Splice_Site_p.E25_splice|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	21	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATCTCGGTAGGAACTGGGAAG	0.388000													11	41					0	0	0.387290	0	0
RLF	6018	broad.mit.edu	37	1	40704981	40704981	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:40704981C>T	ENST00000372771.4	+	8	4634	c.4607C>T	c.(4606-4608)gCc>gTc	p.A1536V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1536					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGAGCTGAGGCCCTCCATATG	0.443000													21	67					0	0	0.667858	0	0
ATG14	22863	broad.mit.edu	37	14	55836573	55836573	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:55836573C>T	ENST00000247178.5	-	10	1278	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	415					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCATCTGATTCTCCAGCAACT	0.537000													20	55					0	0	0.654019	0	0
RASAL2	9462	broad.mit.edu	37	1	178426954	178426954	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:178426954C>T	ENST00000448150.3	+	14	3312	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	RASAL2_ENST00000367649.3_Missense_Mutation_p.P843S|RASAL2_ENST00000462775.1_Missense_Mutation_p.P702S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	702					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTAGCCTTCCTAATGGTCG	0.498000													44	53					0	0	0.870114	0	0
EIF4A2	1974	broad.mit.edu	37	3	186504350	186504350	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:186504350G>A	ENST00000323963.5	+	7	751	c.687G>A	c.(685-687)atG>atA	p.M229I	EIF4A2_ENST00000356531.5_Missense_Mutation_p.M134I|EIF4A2_ENST00000440191.2_Missense_Mutation_p.M230I			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	229	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAAATTCATGAGAGATCCAA	0.353000			T	BCL6	NHL								11	61					0	0	0.411799	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647190	37647190	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:37647190G>A	ENST00000356958.4	-	3	398	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ZNF585A_ENST00000292841.5_5'UTR|ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_5'UTR			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTCTCTGAGAAGGGTCCAG	0.522000													14	50					0	0	0.539581	0	0
SH3BGR	6450	broad.mit.edu	37	21	40871822	40871822	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:40871822C>A	ENST00000333634.4	+	4	653	c.575C>A	c.(574-576)cCt>cAt	p.P192H	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Missense_Mutation_p.P81H|SH3BGR_ENST00000380634.1_Missense_Mutation_p.P81H|SH3BGR_ENST00000380637.3_Missense_Mutation_p.P81H	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	192	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGCAACCTCCCTGAAGCCCAG	0.473000													3	59					0.150653	0.151066	0.150653	1	0
SOGA2	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:8718506C>T	ENST00000359865.3	+	3	200	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SOGA2_ENST00000517570.1_Missense_Mutation_p.R20W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R20W|SOGA2_ENST00000306329.11_Missense_Mutation_p.R380W|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	371																	GCAGGAACTTCGGCGAGAACT	0.488000													19	94					0	0	0.639603	0	0
LRRC7	57554	broad.mit.edu	37	1	70291501	70291501	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:70291501C>T	ENST00000310961.5	+	6	811	c.393C>T	c.(391-393)ccC>ccT	p.P131P	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.P126P|LRRC7_ENST00000370958.1_Silent_p.P164P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	126						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTGTCAATCCCATTTCTAAGT	0.264000													11	48					0	0	0.387290	0	0
DCC	1630	broad.mit.edu	37	18	50831994	50831994	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:50831994G>A	ENST00000442544.2	+	13	2574	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	DCC_ENST00000412726.1_Missense_Mutation_p.G501E|DCC_ENST00000581580.1_Missense_Mutation_p.G308E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	653	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACACAAAATGGATTTATTACC	0.423000													15	79					0	0	0.500413	0	0
ENPP7	339221	broad.mit.edu	37	17	77711004	77711004	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:77711004C>T	ENST00000328313.5	+	4	1412	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	397					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTGGGCATCGTGCCCGAGG	0.652000													6	21					0	0	0.217242	0	0
SYK	6850	broad.mit.edu	37	9	93650807	93650807	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:93650807G>A	ENST00000375754.4	+	13	1881	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	SYK_ENST00000375751.4_Missense_Mutation_p.G555E|SYK_ENST00000375746.1_Missense_Mutation_p.G578E|SYK_ENST00000375747.1_Missense_Mutation_p.G555E	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	578	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGATGAAAGGAAGTGAAGTC	0.433000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	14					0	0	0.335167	0	0
HSPB1	3315	broad.mit.edu	37	7	75933408	75933408	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:75933408T>A	ENST00000248553.6	+	3	705	c.536T>A	c.(535-537)aTc>aAc	p.I179N	HSPB1_ENST00000429938.1_Missense_Mutation_p.I11N	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	179	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						TCCAACGAGATCACCATCCCA	0.637000													7	22					0	0	0.411799	0	0
APOL1	8542	broad.mit.edu	37	22	36651026	36651026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:36651026G>A	ENST00000319136.4	+	3	340	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	APOL1_ENST00000440669.2_Missense_Mutation_p.V9I|APOL1_ENST00000426053.1_Missense_Mutation_p.V9I|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000397279.4_Missense_Mutation_p.V9I|APOL1_ENST00000422706.1_Missense_Mutation_p.V9I|APOL1_ENST00000397278.3_Missense_Mutation_p.V9I	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	9					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TTTGCTGAGAGTCTCTGTCCT	0.597000													36	47					0	0	0.827153	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201561	140201561	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140201561C>T	ENST00000529859.1	+	1	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.S67S|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S67S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1												p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCGTCCAAGGGCCGCG	0.642000													52	98					0	0	0.870114	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382452	56382452	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56382452C>T	ENST00000355701.3	-	30	6384	c.5514G>A	c.(5512-5514)agG>agA	p.R1838R	BZRAP1_ENST00000268893.6_Silent_p.R1778R|BZRAP1_ENST00000343736.4_Silent_p.R1838R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1838						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGGGTTCCCTGTCCAGGC	0.647000													17	29					0	0	0.539581	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398000													13	46					0	0	0.479597	0	0
LCT	3938	broad.mit.edu	37	2	136570208	136570208	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136570208C>T	ENST00000264162.2	-	7	2036	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	676	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCAGCAGAGCCTTTCAGGAGC	0.547000													25	55					0	0	0.667858	0	0
NANOG	79923	broad.mit.edu	37	12	7945557	7945557	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:7945557C>T	ENST00000229307.4	+	2	382	c.163C>T	c.(163-165)Cct>Tct	p.P55S	NANOG_ENST00000526286.1_Missense_Mutation_p.P55S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	55					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTCTCCTCTTCCTTCCTCCAT	0.373000													36	128					0	0	0.864702	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169892	207169892	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:207169892G>A	ENST00000374423.3	+	5	1026	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	214							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTCATTTGGATTCAGTTAG	0.423000													13	35					0	0	0.457914	0	0
OR3A2	4995	broad.mit.edu	37	17	3181360	3181360	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:3181360G>A	ENST00000408891.2	-	1	908	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	290					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GCATAGGGTTGATAACAGTGT	0.453000													17	45					0	0	0.539581	0	0
ITGAD	3681	broad.mit.edu	37	16	31421815	31421815	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31421815G>A	ENST00000389202.2	+	11	1232	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	395					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGTCTCAGGAGAATGTGGA	0.592000													16	72					0	0	0.539581	0	0
KRT77	374454	broad.mit.edu	37	12	53088463	53088463	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:53088463C>T	ENST00000341809.3	-	5	1055	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.E110K	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	343	Coil 2.|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						GCAATCAGTTCATACTGGGTC	0.567000													15	30					0	0	0.479597	0	0
SYT7	9066	broad.mit.edu	37	11	61291958	61291958	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:61291958G>A	ENST00000263846.4	-	6	996	c.669C>T	c.(667-669)gtC>gtT	p.V223V	SYT7_ENST00000539008.1_Silent_p.V506V|SYT7_ENST00000535826.1_Silent_p.V342V|SYT7_ENST00000542836.1_Silent_p.V267V|SYT7_ENST00000542670.1_Silent_p.V431V|SYT7_ENST00000540677.1_Silent_p.V298V|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	223	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATAGTCCAGGACTTGGAGGT	0.577000													11	45					0	0	0.457914	0	0
EFR3A	23167	broad.mit.edu	37	8	133023051	133023051	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:133023051C>T	ENST00000254624.5	+	23	2600	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	EFR3A_ENST00000519656.1_Missense_Mutation_p.P756L|EFR3A_ENST00000334503.4_Missense_Mutation_p.P792L|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	792						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CCTCCCAGTCCATCAGGAACA	0.428000													14	73					0	0	0.500413	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740121	37740121	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:37740121G>A	ENST00000539465.1	+	15	2189	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	FRMPD1_ENST00000377765.3_Silent_p.V532V|FRMPD1_ENST00000541302.1_Silent_p.V401V|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.V354V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	532						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCTGAGGTGGACTGCGTAC	0.547000													36	84					0	0	0.804634	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250148	68250148	+	Silent	SNP	G	G	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:68250148G>T	ENST00000347230.4	-	21	3859	c.3721C>A	c.(3721-3723)Cgg>Agg	p.R1241R	ZFYVE26_ENST00000555452.1_Silent_p.R1241R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGCTTTGCCGGGATGAGCAA	0.592000													26	65					5.77227e-19	5.92587e-19	0.729181	1	0
CDR1	1038	broad.mit.edu	37	X	139865809	139865809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:139865809C>T	ENST00000370532.2	-	1	914	c.723G>A	c.(721-723)tgG>tgA	p.W241*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	241										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCAGTGTCTTCCAGAAAGAAA	0.423000													53	47					0	0	0.870114	0	0
DIDO1	11083	broad.mit.edu	37	20	61528235	61528235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:61528235G>A	ENST00000266070.4	-	7	2027	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P568S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P568S|DIDO1_ENST00000395340.1_Missense_Mutation_p.P568S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	568					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACTTCTTTGGCACGAGGTTT	0.577000													16	26					0	0	0.500413	0	0
FIG4	9896	broad.mit.edu	37	6	110113806	110113806	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:110113806G>A	ENST00000230124.3	+	21	2522	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	FIG4_ENST00000441478.2_Missense_Mutation_p.E523K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	800					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ACCCATGAAGGAGCTATATGG	0.323000													27	67					0	0	0.740014	0	0
AKAP13	11214	broad.mit.edu	37	15	86087057	86087057	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:86087057G>A	ENST00000394518.2	+	5	628	c.533G>A	c.(532-534)aGg>aAg	p.R178K	AKAP13_ENST00000361243.2_Missense_Mutation_p.R178K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	178					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGACTGCTGAGGTTGACGTGG	0.547000													12	31					0	0	0.457914	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606478	47606478	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:47606478G>A	ENST00000371891.3	+	2	253	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CYP4A22_ENST00000371890.3_Silent_p.R74R|CYP4A22_ENST00000294337.3_Silent_p.R74R|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	74						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACAACGGATTCAGGAAC	0.483000													25	84					0	0	0.729181	0	0
PRAMEF16	654348	broad.mit.edu	37	1	13497656	13497656	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:13497656G>A	ENST00000376121.3	+	3	983	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	318												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTACCCAAGCCTCAGTCAG	0.493000													19	86					0	0	0.769981	0	0
RYR1	6261	broad.mit.edu	37	19	38995526	38995526	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:38995526G>A	ENST00000355481.4	+	51	8337	c.8206G>A	c.(8206-8208)Gat>Aat	p.D2736N	RYR1_ENST00000360985.3_Missense_Mutation_p.D2736N|RYR1_ENST00000359596.3_Missense_Mutation_p.D2736N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2736	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCAACTTTGATCCCCGGCC	0.587000													9	33					0	0	0.387290	0	0
WASF3	10810	broad.mit.edu	37	13	27255347	27255347	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:27255347C>T	ENST00000361042.4	+	8	1089	c.864C>T	c.(862-864)gcC>gcT	p.A288A	WASF3_ENST00000335327.5_Silent_p.A291A			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	291					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCCATCTGCCTCGGCGAGGC	0.701000													23	58					0	0	0.654019	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													41	93					0	0	0.870114	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47621705	47621705	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:47621705C>T	ENST00000371917.4	+	26	3531	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1177					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGCCAACTTCCGTTTCCAGA	0.438000													36	141					0	0	0.796494	0	0
CFH	3075	broad.mit.edu	37	1	196695755	196695755	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:196695755G>A	ENST00000367429.4	+	13	2269	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	677	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGATGGAGAGTGGACAAC	0.294000													13	81					0	0	0.479597	0	0
TSSC2	650368	broad.mit.edu	37	11	3426137	3426137	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:3426137C>T	ENST00000529482.1	+	0	845																											GAAGCATTTCCAGCACATCCA	0.607000													13	55					0	0	0.479597	0	0
GP1BA	2811	broad.mit.edu	37	17	4836376	4836376	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:4836376C>T	ENST00000329125.5	+	2	552	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	159										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CCCCAGGGCTCCTGACGCCCA	0.607000													14	50					0	0	0.435327	0	0
DPEP3	64180	broad.mit.edu	37	16	68010648	68010648	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:68010648C>T	ENST00000268793.4	-	8	1497	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	350					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GAACTCAGATCCAATGACTGC	0.567000													8	28					0	0	0.387290	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300663	103300663	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:103300663C>T	ENST00000233969.2	+	5	1435	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	431						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACCAGTTCATCATTGCCTATG	0.453000													29	101					0	0	0.740014	0	0
NFXL1	152518	broad.mit.edu	37	4	47905220	47905220	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:47905220G>A	ENST00000507489.1	-	5	813	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	NFXL1_ENST00000329043.3_Missense_Mutation_p.P213S|NFXL1_ENST00000381538.3_Missense_Mutation_p.P213S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	213						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CAAGGCCAGGGACAATCTTTC	0.398000													19	44					0	0	0.557998	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:216373131C>T	ENST00000366943.2	-	17	4035	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_ENST00000307340.3_Missense_Mutation_p.D1217N|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1217N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)			44	50					0	0	0.853193	0	0
DOCK9	23348	broad.mit.edu	37	13	99630118	99630118	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:99630118C>T	ENST00000376460.1	-	1	126	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	DOCK9_ENST00000442173.1_Missense_Mutation_p.E16K|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCACCAGTTCCTTTTTGACA	0.527000													6	15					0	0	0.248553	0	0
NLRP8	126205	broad.mit.edu	37	19	56467063	56467063	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:56467063G>A	ENST00000291971.3	+	3	1710	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G547R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	547						cytoplasm	ATP binding	p.G547R(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTCCCAGAGGAAGCAAAAG	0.468000													27	39					0	0	0.693898	0	0
PLXND1	23129	broad.mit.edu	37	3	129284279	129284279	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:129284279G>A	ENST00000393239.1	-	25	4603	c.4425C>T	c.(4423-4425)gcC>gcT	p.A1475A	PLXND1_ENST00000324093.4_Silent_p.A1475A			Q9Y4D7	PLXD1_HUMAN	plexin D1	1475					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTCTTGGCGGCCGAGGCGT	0.602000													18	51					0	0	0.539581	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675922	25675922	+	Silent	SNP	C	C	T	rs146575036		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:25675922C>T	ENST00000382051.3	+	11	1271	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SLC34A2_ENST00000504570.1_Silent_p.F406F|SLC34A2_ENST00000503434.1_Silent_p.F406F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	407					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.F407F(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATTTCCCCTTTCCCT	0.577000			T	ROS1	NSCLC								14	35					0	0	0.435327	0	0
VPS41	27072	broad.mit.edu	37	7	38768159	38768159	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:38768159G>A	ENST00000310301.4	-	27	2441	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	VPS41_ENST00000395969.2_Missense_Mutation_p.S771F	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	796					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AAGAATAGGGGAAAGGCACGA	0.408000													23	178					0	0	0.693898	0	0
PROL1	58503	broad.mit.edu	37	4	71275098	71275098	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:71275098C>T	ENST00000399575.2	+	3	227	c.51_splice	c.e3-1	p.P18_splice	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	18					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCTCCACAGCCCAGTGAGAGT	0.393000													6	27					0	0	0.248553	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177106	71177106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:71177106G>A	ENST00000333538.5	+	11	2406	c.1772G>A	c.(1771-1773)tGg>tAg	p.W591*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTCAGAGGTGGACCATTAAG	0.637000													19	46					0	0	0.608945	0	0
ADAM11	4185	broad.mit.edu	37	17	42850448	42850448	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:42850448G>A	ENST00000200557.6	+	10	989	c.820G>A	c.(820-822)Gat>Aat	p.D274N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D74N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	274	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAACCTGGCCGATGTGGTAAG	0.622000													16	32					0	0	0.575678	0	0
SLC9C1	285335	broad.mit.edu	37	3	111873846	111873846	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:111873846C>T	ENST00000305815.5	-	27	3667	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E1091K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1139					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATTTACCTCCTTAACATTT	0.313000													11	46					0	0	0.457914	0	0
CD99P1	401577	broad.mit.edu	37	X	2541473	2541473	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:2541473C>T	ENST00000414513.2	+	0	2283																											AAATCCAAACCCCAAGCAGCC	0.458000													8	32					0	0	0.387290	0	0
PRKACG	5568	broad.mit.edu	37	9	71628660	71628660	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:71628660G>A	ENST00000377276.2	-	1	379	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	117	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCAGGTACAGGTAGGAGTTG	0.572000													22	67					0	0	0.639603	0	0
AMN	81693	broad.mit.edu	37	14	103394775	103394775	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:103394775G>A	ENST00000299155.5	+	4	253	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	74					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCCGCTGGATGGGGAACT	0.741000													5	5					0	0	0.184627	0	0
HTR1F	3355	broad.mit.edu	37	3	88040274	88040274	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:88040274C>T	ENST00000319595.4	+	1	429	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCGAGCAATCACAGATGCTG	0.443000													21	51					0	0	0.693898	0	0
CHL1	10752	broad.mit.edu	37	3	367654	367654	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:367654C>T	ENST00000256509.2	+	4	746	c.104C>T	c.(103-105)cCa>cTa	p.P35L	CHL1_ENST00000397491.2_Missense_Mutation_p.P35L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	35	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAACAGGTTCCAACAATCATA	0.333000													12	54					0	0	0.435327	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216542	8216542	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:8216542G>A	ENST00000361926.3	+	3	1014	c.904G>A	c.(904-906)Gat>Aat	p.D302N	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.D302N	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	302					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCAGATCTTGATCTGCTTTC	0.592000													16	37					0	0	0.557998	0	0
MLXIPL	51085	broad.mit.edu	37	7	73009975	73009975	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:73009975A>C	ENST00000313375.3	-	15	2349	c.2302T>G	c.(2302-2304)Ttc>Gtc	p.F768V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.F675V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.F747V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.F674V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.F749V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.F766V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	768					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCACCCAGAACTTCCAGTTG	0.622000													18	43					0	0	0.681144	0	0
OPN4	94233	broad.mit.edu	37	10	88415938	88415938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:88415938G>A	ENST00000372071.2	+	2	398	c.171G>A	c.(169-171)tgG>tgA	p.W57*	OPN4_ENST00000241891.5_Nonsense_Mutation_p.W57*	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	57					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGCTGCCTGGGTCCCCCTCC	0.572000													24	44					0	0	0.693898	0	0
BAGE2	85319	broad.mit.edu	37	21	11038973	11038973	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:11038973G>A	ENST00000470054.1	-	0	1230									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTCTCAGATGATAACTTTAT	0.413000													16	466					0	0	0.520397	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660743	150660743	+	Splice_Site	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:150660743A>G	ENST00000335230.3	-	9	1387	c.974_splice	c.e9-1	p.L326_splice	SLC36A3_ENST00000377713.3_Splice_Site_p.L367_splice	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	326						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTGGTACAACCTGCAGACA	0.512000													18	37					0	0	0.557998	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789353	140789353	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140789353C>T	ENST00000520790.1	+	1	1584	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCCTTCGCGCTCACGC	0.692000													3	3					0	0	0.115264	0	0
KMT2A	4297	broad.mit.edu	37	11	118342713	118342713	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:118342713C>T	ENST00000534358.1	+	3	862	c.839C>T	c.(838-840)cCt>cTt	p.P280L	KMT2A_ENST00000389506.5_Missense_Mutation_p.P280L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P280L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAACTCTCTCCTCTCAAGTCT	0.403000													24	85					0	0	0.693898	0	0
FBXO31	79791	broad.mit.edu	37	16	87367779	87367779	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:87367779G>A	ENST00000568879.1	-	1	100	c.101C>T	c.(100-102)tCc>tTc	p.S34F	FBXO31_ENST00000311635.7_Silent_p.V370V																							GCACCTCCAGGACGATGCGGG	0.697000													21	52					0	0	0.624587	0	0
LTBP2	4053	broad.mit.edu	37	14	75018996	75018996	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:75018996G>A	ENST00000261978.4	-	6	1679	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	LTBP2_ENST00000556690.1_Silent_p.I431I|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	431					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCGGCTGCGGGATAGGCAGGT	0.662000													15	45					0	0	0.639603	0	0
ITLN1	55600	broad.mit.edu	37	1	160851957	160851957	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:160851957G>A	ENST00000326245.3	-	4	310	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	65	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGTCTGGTAGATAACACCAT	0.577000													13	54					0	0	0.479597	0	0
FAT3	120114	broad.mit.edu	37	11	92087933	92087933	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:92087933C>T	ENST00000298047.6	+	1	2672	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	FAT3_ENST00000409404.2_Silent_p.I885I|FAT3_ENST00000541502.1_Silent_p.I885I|FAT3_ENST00000525166.1_Silent_p.I735I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	885	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACTGGAATCGTTTATGTAG	0.448000										TCGA Ovarian(4;0.039)			13	63					0	0	0.500413	0	0
AMBN	258	broad.mit.edu	37	4	71467313	71467313	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:71467313G>A	ENST00000322937.6	+	6	576	c.473G>A	c.(472-474)gGa>gAa	p.G158E	AMBN_ENST00000449493.2_Missense_Mutation_p.G143E	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	158					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTGCAGGAAGGAGAACTGCCT	0.522000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	83					0	0	0.706142	0	0
HELB	92797	broad.mit.edu	37	12	66703601	66703601	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:66703601A>T	ENST00000247815.4	+	4	952	c.893A>T	c.(892-894)tAt>tTt	p.Y298F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	298					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTAATAATGTATTCCAGACTG	0.393000													33	110					0	0	0.769981	0	0
NRIP1	8204	broad.mit.edu	37	21	16339140	16339140	+	Silent	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:16339140A>T	ENST00000400202.1	-	3	2086	c.1374T>A	c.(1372-1374)gtT>gtA	p.V458V	NRIP1_ENST00000400199.1_Silent_p.V458V|NRIP1_ENST00000318948.4_Silent_p.V458V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	458	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATCCAGGGAAACAGGTTGGT	0.403000													21	100					0	0	0.639603	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				112	79					0	0	0.870114	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527436	32527436	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:32527436G>A	ENST00000428783.1	+	0	1136																											CTTGCTGGAGGAGGAGATCAC	0.587000													13	48					0	0	0.479597	0	0
LIPF	8513	broad.mit.edu	37	10	90438420	90438420	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:90438420A>G	ENST00000394375.3	+	11	1322	c.1209A>G	c.(1207-1209)atA>atG	p.I403M	LIPF_ENST00000238983.4_Missense_Mutation_p.I393M|LIPF_ENST00000355843.2_Missense_Mutation_p.I360M	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	393					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTCTATGATATCAGAAGATA	0.308000													16	26					0	0	0.539581	0	0
IGLV3-1	28809	broad.mit.edu	37	22	23223415	23223415	+	RNA	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:23223415C>T	ENST00000390319.2	+	0	237																											GGCCAGTCCCCTGTGCTGGTC	0.562000													41	44					0	0	0.847076	0	0
DHX16	8449	broad.mit.edu	37	6	30627938	30627938	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:30627938G>A	ENST00000376442.3	-	10	1821	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.F61F	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	542	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GCTCAGGTCGGAAGCGAGCAA	0.542000													22	77					0	0	0.608945	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828166	160828166	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:160828166G>A	ENST00000392145.1	+	3	654	c.627G>A	c.(625-627)gtG>gtA	p.V209V	SLC22A3_ENST00000275300.2_Silent_p.V209V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	209						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTGTGTTTGTGATCTTCCGCT	0.468000													43	121					0	0	0.870114	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:29038468G>A	ENST00000257189.4	+	4	360	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	93	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGGGAATCGATCAGCCGCC	0.443000													14	51					0	0	0.457914	0	0
HSPA6	3310	broad.mit.edu	37	1	161495088	161495088	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:161495088A>T	ENST00000309758.4	+	1	1053	c.640A>T	c.(640-642)Att>Ttt	p.I214F		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	214					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTTCTCTCCATTGACGCTGG	0.587000													14	51					0	0	0.479597	0	0
HPS1	3257	broad.mit.edu	37	10	100195401	100195401	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:100195401G>A	ENST00000325103.6	-	4	479	c.246C>T	c.(244-246)gtC>gtT	p.V82V	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.V82V|HPS1_ENST00000338546.5_Silent_p.V82V	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCAGGTGAAGGACATACAGGA	0.532000									Hermansky-Pudlak syndrome				30	72					0	0	0.788014	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025528	203025528	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:203025528G>A	ENST00000367240.2	+	17	2596	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q	PPFIA4_ENST00000414050.2_Missense_Mutation_p.R418Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R689Q|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R205Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R205Q|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R205Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	205					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAGAACCGAGAGGATAAA	0.587000													23	27					0	0	0.706142	0	0
FGF4	2249	broad.mit.edu	37	11	69588129	69588129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:69588129C>T	ENST00000168712.1	-	3	887	c.569G>A	c.(568-570)gGg>gAg	p.G190E	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	190					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CACTCGGTTCCCCTTCTTGGT	0.587000													14	57					0	0	0.479597	0	0
IQSEC3	440073	broad.mit.edu	37	12	275031	275031	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:275031G>A	ENST00000538872.1	+	11	3064	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.T679T|IQSEC3_ENST00000326261.4_Silent_p.T982T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	982	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGGTGACGGAGCTGGAGC	0.597000													10	33					0	0	0.411799	0	0
SEPHS1	22929	broad.mit.edu	37	10	13386800	13386800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:13386800G>A	ENST00000327347.5	-	2	526	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.Q51*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.Q51*|SEPHS1_ENST00000537130.1_Intron	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	51					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCATCTTCTTGGAAGTGGTTC	0.483000													48	135					0	0	0.870114	0	0
TRPM2	7226	broad.mit.edu	37	21	45802612	45802612	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45802612C>T	ENST00000397928.1	+	9	1672	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	TRPM2_ENST00000300482.5_Silent_p.I409I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.I409I|TRPM2_ENST00000397932.2_Silent_p.I409I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	409						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAAGATATCGTCCGGAGGC	0.562000													11	18					0	0	0.387290	0	0
CYTIP	9595	broad.mit.edu	37	2	158272197	158272197	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:158272197G>A	ENST00000264192.3	-	8	1193	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	CYTIP_ENST00000540637.1_Missense_Mutation_p.R252C	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	358					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGTCAAAAGCGACTTTCTTCC	0.473000													12	41					0	0	0.435327	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609924	32609924	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:32609924T>A	ENST00000343139.5	+	3	609	c.507T>A	c.(505-507)caT>caA	p.H169Q	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.H169Q|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.H169Q	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	168	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGAGTGATCATTCCTTCTTCA	0.498000													36	45					0	0	0.847076	0	0
COL1A1	1277	broad.mit.edu	37	17	48267689	48267689	+	Splice_Site	SNP	G	G	A	rs74315133		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48267689G>A	ENST00000225964.5	-	35	2568	c.2451_splice	c.e35+1	p.P817_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	817	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGTACTCACAGGGGGGCCAGC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	40					0	0	0.479597	0	0
CPE	1363	broad.mit.edu	37	4	166388935	166388935	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:166388935G>A	ENST00000402744.4	+	3	880	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	200					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGTGTACGTGAATGAGAAAG	0.433000													13	53					0	0	0.435327	0	0
NPC1	4864	broad.mit.edu	37	18	21141430	21141430	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21141430G>A	ENST00000269228.5	-	5	1079	c.525C>T	c.(523-525)ctC>ctT	p.L175L	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	175					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCCACACAGGAGTCCCAGGG	0.502000													32	108					0	0	0.827153	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987358	2987358	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:2987358C>T	ENST00000399667.2	+	9	2260	c.1897C>T	c.(1897-1899)Ccc>Tcc	p.P633S	FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.P584S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P583S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	584						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGAGCACTTCCCCAACCTGGC	0.726000													5	9					0	0	0.248553	0	0
COL2A1	1280	broad.mit.edu	37	12	48391395	48391395	+	Silent	SNP	A	A	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48391395A>G	ENST00000380518.3	-	7	689	c.525T>C	c.(523-525)ctT>ctC	p.L175L	COL2A1_ENST00000337299.6_Silent_p.L106L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	175					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTACTCCACCAAgaccagggg	0.602000													8	22					0	0	0.307466	0	0
NCF4	4689	broad.mit.edu	37	22	37273673	37273673	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:37273673G>A	ENST00000248899.6	+	10	1012	c.828G>A	c.(826-828)cgG>cgA	p.R276R	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	276					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CATGCAGGCGGGAGTTCCAGA	0.562000													13	57					0	0	0.479597	0	0
DRD5	1816	broad.mit.edu	37	4	9784092	9784092	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:9784092C>T	ENST00000304374.2	+	1	835	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	147					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGGCCCTTCCGCTACAAGCG	0.597000													3	15					0	0	0.115264	0	0
SLIT3	6586	broad.mit.edu	37	5	168233545	168233545	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:168233545G>A	ENST00000519560.1	-	9	1260	c.841C>T	c.(841-843)Cct>Tct	p.P281S	SLIT3_ENST00000404867.3_Missense_Mutation_p.P281S|SLIT3_ENST00000332966.8_Missense_Mutation_p.P281S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	281	LRRNT 2.				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)			CAGGGCGAAGGGCAGGAGATG	0.572000													23	42					0	0	0.654019	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997130	46997130	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:46997130C>T	ENST00000599531.1	-	1	2625	c.1593G>A	c.(1591-1593)agG>agA	p.R531R	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	531										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCGGGGCTTCCTGGATGCCC	0.751000													4	9					0	0	0.150653	0	0
DNAH8	1769	broad.mit.edu	37	6	38899763	38899763	+	Silent	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:38899763G>A	ENST00000359357.3	+	74	11054	c.10800G>A	c.(10798-10800)gaG>gaA	p.E3600E	DNAH8_ENST00000449981.2_Silent_p.E3817E|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Silent_p.E3564E					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						TTCTAACAGAGAAACAGGTAA	0.318000													10	57					0	0	0.387290	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:228882461G>A	ENST00000392056.3	-	7	3155	c.3109C>T	c.(3109-3111)Ctt>Ttt	p.L1037F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1037F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1037						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCAAAAAGATTGACAGAA	0.502000													24	60					0	0	0.693898	0	0
CGNL1	84952	broad.mit.edu	37	15	57745899	57745899	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:57745899G>A	ENST00000281282.5	+	7	2151	c.2073G>A	c.(2071-2073)atG>atA	p.M691I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	691						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGTGAAGATGGAACGGGAGC	0.527000													4	29					0	0	0.184627	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361571	70361571	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:70361571C>T	ENST00000305107.6	-	1	55	c.9G>A	c.(7-9)atG>atA	p.M3I	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M3I	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	3					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGTCCATTTCATAGACATCC	0.443000													50	159					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141092073	141092073	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:141092073C>T	ENST00000389484.3	-	79	13143	c.12172G>A	c.(12172-12174)Gat>Aat	p.D4058N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4058					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4058Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGTACCATCCATGGCTGCT	0.438000										TSP Lung(27;0.18)			26	81					0	0	0.740014	0	0
OR8U1	219417	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56143797G>A	ENST00000302270.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.G233V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCAGCTGAGGGAAGACAGAAG	0.463000													20	72					0	0	0.575678	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754444	31754444	+	RNA	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:31754444G>A	ENST00000405650.1	-	0	796				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AGTGCTGGGAGGGACCAAGTG	0.473000													11	36					0	0	0.411799	0	0
LRRC4	64101	broad.mit.edu	37	7	127670333	127670333	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:127670333C>T	ENST00000249363.3	-	2	618	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	121						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGGCCAGGCCGTTGAAGGCC	0.622000													15	94					0	0	0.520397	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328075	61328075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:61328075G>A	ENST00000283752.5	-	3	324	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.Q61*	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	61					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTGTGACTTGATCAAAGTGA	0.438000													19	45					0	0	0.575678	0	0
POTEG	404785	broad.mit.edu	37	14	19553800	19553800	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:19553800C>T	ENST00000409832.3	+	1	436	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	128										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACAGCGCTTTCATGGAGCCGA	0.597000													13	576					0	0	0.557998	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412391	81412391	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:81412391A>T	ENST00000430430.1	+	3	2414	c.1635A>T	c.(1633-1635)gaA>gaT	p.E545D	ZBTB10_ENST00000426744.2_Missense_Mutation_p.E545D|ZBTB10_ENST00000379091.4_Missense_Mutation_p.E253D|ZBTB10_ENST00000455036.3_Missense_Mutation_p.E545D	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	545					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GATCTCCTGAAATGGCTGAAA	0.393000													10	19					0	0	0.361761	0	0
PRKCH	5583	broad.mit.edu	37	14	62014569	62014569	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:62014569C>T	ENST00000332981.5	+	13	2255	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.H463Y|RP11-47I22.4_ENST00000556347.1_Silent_p.T128T	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	624	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAGCTGAACCATCGCCAAAT	0.522000													65	172					0	0	0.870114	0	0
ANK3	288	broad.mit.edu	37	10	61834560	61834560	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:61834560C>T	ENST00000280772.1	-	37	6270	c.6079G>A	c.(6079-6081)Gat>Aat	p.D2027N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2027					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTTATAATCCTTTTCGGAG	0.428000													25	85					0	0	0.654019	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929626	105929626	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:105929626G>A	ENST00000526793.1	-	2	358	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R67C|KBTBD3_ENST00000531482.2_Missense_Mutation_p.R67C	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	63	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AACACACAACGATGACACGGG	0.308000													8	52					0	0	0.361761	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218260	134218260	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:134218260C>T	ENST00000305233.5	+	2	315	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PWWP2B_ENST00000368609.4_Missense_Mutation_p.P86S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	86	Pro-rich.							p.P86A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCTCCCCCCCTCCTGCCCG	0.751000													11	32					0	0	0.457914	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109209	106109209	+	Silent	SNP	T	T	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:106109209T>C	ENST00000357242.5	+	16	2782	c.2608T>C	c.(2608-2610)Tta>Cta	p.L870L	TBC1D8B_ENST00000276175.3_Silent_p.L864L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	870	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCAGATTGTTAGATGAAAA	0.368000													30	24					0	0	0.717897	0	0
REXO1	57455	broad.mit.edu	37	19	1827034	1827034	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:1827034G>A	ENST00000170168.4	-	2	1848	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	585	Ser-rich.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ggaggaggaggaggaggagga	0.711000													3	1					0	0	0.115264	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189832	7189832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:7189832C>T	ENST00000317370.8	+	11	1682	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAAACTCGAGGCCGGAC	0.542000													86	231					0	0	0.870114	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731877	96731877	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:96731877C>T	ENST00000260682.6	+	6	848	c.836C>T	c.(835-837)cCa>cTa	p.P279L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	279					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CACAACCAACCATCTGAATTT	0.368000													29	70					0	0	0.788014	0	0
TRIM28	10155	broad.mit.edu	37	19	59059887	59059887	+	Silent	SNP	A	A	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:59059887A>C	ENST00000253024.5	+	9	1540	c.1251A>C	c.(1249-1251)tcA>tcC	p.S417S	TRIM28_ENST00000341753.6_Silent_p.S335S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	417					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCACTAACTCAACAGGCCCTG	0.587000													12	90					0	0	0.500413	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955403	58955403	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:58955403C>T	ENST00000423743.3	+	25	3718	c.3460C>T	c.(3460-3462)Cca>Tca	p.P1154S	KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1251S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P1183S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P1122S	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1122										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTCCACCTCCAGAGCCAGT	0.488000													24	43					0	0	0.654019	0	0
CELSR1	9620	broad.mit.edu	37	22	46795748	46795748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:46795748C>A	ENST00000262738.3	-	10	5277	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1760	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCACGGACTCCACATCGGAG	0.562000													32	60					2.80507e-11	2.85572e-11	0.760397	1	0
TG	7038	broad.mit.edu	37	8	133925383	133925383	+	Silent	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:133925383C>T	ENST00000220616.4	+	20	4291	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F	TG_ENST00000377869.1_Silent_p.F1417F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAGACGTTCCCAGCGGAAA	0.547000													43	37					0	0	0.870114	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223289	140223289	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140223289C>T	ENST00000531613.1	+	1	2383	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H795Y|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														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)			AAATGTTGATCATGGCCTCAA	0.408000													12	26					0	0	0.435327	0	0
MYO15A	51168	broad.mit.edu	37	17	18022497	18022497	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:18022497G>A	ENST00000205890.5	+	2	721	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	128	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGTCACTCAGCAAAGCGTCC	0.647000													3	13					0	0	0.150653	0	0
LAMC1	3915	broad.mit.edu	37	1	183100434	183100434	+	Splice_Site	DEL	T	T	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:183100434delT	ENST00000258341.4	+	20	3744	c.3486_splice	c.e20-1	p.S1163_splice		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1163	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)	TCCTGTGCAGTCAGTCACTCA	0.388													24	208	---	---	---	---					
LOC100507073	100507073	broad.mit.edu	37	2	66802106	66802107	+	RNA	INS	-	-	CCCCTT	rs70947305	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:66802106_66802107insCCCCTT	ENST00000433396.1	+	0	136																											GTctgcccccaccccttcccct	0.535													2	4	---	---	---	---					
SSUH2	51066	broad.mit.edu	37	3	8661633	8661644	+	In_Frame_Del	DEL	TAGACATAAGTC	TAGACATAAGTC	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:8661633_8661644delTAGACATAAGTC	ENST00000317371.4	-	19	2197_2208	c.972_983delGACTTATGTCTA	c.(970-984)aac>aa	p.KTYVY324del	SSUH2_ENST00000544814.1_In_Frame_Del_p.KTYVY346del|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000341795.3_In_Frame_Del_p.KTYVY324del					ssu-2 homolog (C. elegans)									p.Y326H(1)									ATAGATGTAGTAGACATAAGTCTTTCCTTGGT	0.486													11	99	---	---	---	---					
SENP6	26054	broad.mit.edu	37	6	76376441	76376443	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:76376441_76376443delTGA	ENST00000370014.3	+	10	1627_1629	c.1008_1010delTGA	c.(1006-1011)agt>ag	p.SD336del	SENP6_ENST00000447266.2_In_Frame_Del_p.SD336del|SENP6_ENST00000370010.2_In_Frame_Del_p.SD329del|SENP6_ENST00000327284.8_In_Frame_Del_p.SD329del	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	336					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.D337N(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTTGTCCAGTGATGATGATGAT	0.305													7	69	---	---	---	---					
RP11-327I22.5	0	broad.mit.edu	37	9	43147882	43147883	+	RNA	INS	-	-	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:43147882_43147883insA	ENST00000447613.1	-	0	369																											CTCTGTCTTGTAAATGTCACCA	0.366													8	26	---	---	---	---					
ANXA7	310	broad.mit.edu	37	10	75143420	75143420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75143420delA	ENST00000372921.4	-	8	718	c.662delT	c.(661-663)tafs	p.L221fs	ANXA7_ENST00000535178.1_Frame_Shift_Del_p.L91fs|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	243							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATTTCCACTTAACTCTGATTT	0.358													17	31	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096041	20096042	+	RNA	INS	-	-	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:20096041_20096042insA	ENST00000535764.1	+	0	212																											AACAAGCTGTTAAAAAAAAAAT	0.307													2	4	---	---	---	---					
OTX2	5015	broad.mit.edu	37	14	57268851	57268852	+	Frame_Shift_Ins	INS	-	-	GATG			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:57268851_57268852insGATG	ENST00000339475.5	-	5	771_772	c.495_496insCATC	c.(493-498)atccccfs	p.-165fs	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Frame_Shift_Ins_p.-157fs|OTX2_ENST00000408990.3_Frame_Shift_Ins_p.-157fs	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2						axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACAGTGGGGAGATGGAAGCTG	0.545													20	77	---	---	---	---					
CHD9	80205	broad.mit.edu	37	16	53338468	53338470	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:53338468_53338470delTCC	ENST00000566029.1	+	31	6759_6761	c.6550_6552delTCC	c.(6550-6552)del	p.S2193del	CHD9_ENST00000447540.1_In_Frame_Del_p.S2193del|CHD9_ENST00000398510.3_In_Frame_Del_p.S2193del|CHD9_ENST00000564845.1_In_Frame_Del_p.S2193del			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2193	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ctccacctcttcctcctcctcct	0.419													2	4	---	---	---	---					
RNF225	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:58907569_58907571delAGG	ENST00000601382.1	+	1	113_115	c.113_115delAGG	c.(112-117)cag>c	p.38del		NM_001195135.1	NP_001182064.1																					GGGGAAGACCaggaggaggagga	0.724													2	4	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41202462	41202468	+	Splice_Site	DEL	TTAACAG	TTAACAG	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:41202462_41202468delTTAACAG	ENST00000399959.2	+	7	1398		c.e7-1		DDX3X_ENST00000457138.2_Splice_Site|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Splice_Site|DDX3X_ENST00000478993.1_Splice_Site	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATTGAATTTCTTAACAGTTCAGTGATG	0.367										HNSCC(61;0.18)			9	25	---	---	---	---