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
TMCC3	57458	broad.mit.edu	37	12	94965325	94965325	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:94965325C>T	ENST00000261226.4	-	4	1451	c.1320G>A	c.(1318-1320)atG>atA	p.M440I	TMCC3_ENST00000551457.1_Missense_Mutation_p.M409I	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	440						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						AGCGACTCTTCATCATGGGTG	0.478000													22	57					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498792	61498792	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:61498792G>A	ENST00000424789.2	+	25	5453	c.5449G>A	c.(5449-5451)Gag>Aag	p.E1817K	TANC2_ENST00000389520.4_Missense_Mutation_p.E1827K|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1817							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCTGCATATGAGAGGTCATG	0.527000													8	32					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508228	31508228	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:31508228C>T	ENST00000417556.2	-	2	712	c.82G>A	c.(82-84)Gag>Aag	p.E28K	DDX39B_ENST00000458640.1_Missense_Mutation_p.E28K|DDX39B_ENST00000415382.2_Silent_p.L23L|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.E28K|DDX39B_ENST00000449074.2_Missense_Mutation_p.E28K|DDX39B_ENST00000453105.2_Silent_p.L23L|DDX39B_ENST00000396172.1_Missense_Mutation_p.E28K			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	28					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCAGGGGCCTCAGCCCCATCT	0.567000													11	82					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53410385	53410385	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:53410385G>A	ENST00000262056.9	+	2	468	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	EIF4B_ENST00000420463.3_Missense_Mutation_p.E48K|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.E48K|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	48					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGATGACCTGGAAGGAGATGG	0.403000													14	49					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41224091	41224091	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:41224091G>A	ENST00000263370.2	+	1	1084	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	351						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCCGGGTTGAGGGGGGCAG	0.677000													17	48					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256628	16256628	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:16256628C>T	ENST00000375759.3	+	11	4097	c.3893C>T	c.(3892-3894)tCt>tTt	p.S1298F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1298					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)		CTCCCCTATTCTAACATAACA	0.413000													32	79					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68651573	68651573	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:68651573C>T	ENST00000380822.4	-	4	280	c.229G>A	c.(229-231)Gat>Aat	p.D77N	TAF9_ENST00000512561.1_Missense_Mutation_p.D46N|TAF9_ENST00000380818.3_Missense_Mutation_p.D74N|TAF9_ENST00000502819.1_Intron	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	77						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CCATGGTAATCAACAATAACT	0.338000													20	54					0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40384060	40384060	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:40384060C>G	ENST00000354670.4	-	5	717	c.483G>C	c.(481-483)tgG>tgC	p.W161C	BMF_ENST00000431415.3_Missense_Mutation_p.W140C|BMF_ENST00000397573.1_Missense_Mutation_p.W161C|BMF_ENST00000220446.4_Missense_Mutation_p.A108P|BMF_ENST00000561282.1_Missense_Mutation_p.W161C|BMF_ENST00000561360.1_Missense_Mutation_p.W161C|BMF_ENST00000558774.1_Missense_Mutation_p.A108P|BMF_ENST00000559701.1_Missense_Mutation_p.A108P	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	161					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GGAGGATCTGCCACCACACAC	0.512000													4	6					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022901	11022901	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:11022901G>A	ENST00000304623.8	-	17	3168	c.2979C>T	c.(2977-2979)atC>atT	p.I993I	CTNND2_ENST00000458100.2_Silent_p.I560I|CTNND2_ENST00000511377.1_Silent_p.I902I|CTNND2_ENST00000503622.1_Silent_p.I656I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I935I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	993					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTTTTGGAGATGCCGACCA	0.498000													9	49					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	592517	592517	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:592517G>C	ENST00000230449.4	-	11	1279	c.1144C>G	c.(1144-1146)Ctt>Gtt	p.L382V	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	382					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATGAGCTGAAGGATCCACTTG	0.473000													5	44					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95660224	95660224	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:95660224C>T	ENST00000436874.1	+	5	631	c.526C>T	c.(526-528)Cta>Tta	p.L176L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.L128L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	176						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GGGAGTGATTCTATTTGTGTA	0.438000													42	141					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554255	62554255	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:62554255G>A	ENST00000294168.3	+	11	1557	c.1356G>A	c.(1354-1356)ttG>ttA	p.L452L	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	452					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGACAGCTTGGCCACACGCT	0.716000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	12					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88719796	88719796	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:88719796G>A	ENST00000372017.3	+	3	244	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R85Q	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	68				E -> K (in Ref. 1; AAB64109).		microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CGCCGTGAGCGAGGCTGTGGT	0.677000													6	9					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41313073	41313073	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:41313073G>A	ENST00000593726.1	+	3	2022	c.994G>A	c.(994-996)Gag>Aag	p.E332K	EGLN2_ENST00000303961.4_Missense_Mutation_p.E332K|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.E332K|EGLN2_ENST00000594140.1_Missense_Mutation_p.E50K|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	332	Fe2OG dioxygenase.				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GATCTTCCCTGAGGGCCGGCC	0.657000											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	48					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393882	78393882	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:78393882G>A	ENST00000328828.5	+	5	1287	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	SH2D7_ENST00000409568.2_Silent_p.E293E	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	429										endometrium(2)|kidney(2)|lung(3)	7						AGAGCAAGGAGACTGGACGGA	0.587000													6	13					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85617907	85617907	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:85617907T>A	ENST00000322366.6	-	56	9022	c.8615A>T	c.(8614-8616)gAa>gTa	p.E2872V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2889V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2889	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTGATGAATTCTCGTGGGTC	0.393000													18	84					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606911	19606911	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:19606911C>T	ENST00000404158.1	+	9	1225	c.807C>T	c.(805-807)ctC>ctT	p.L269L	GATAD2A_ENST00000358713.3_Silent_p.L269L|GATAD2A_ENST00000429563.2_Silent_p.L96L|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000360315.3_Silent_p.L269L|GATAD2A_ENST00000252577.5_Silent_p.L269L			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	269					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGCCCCTCCTCCTGGCCCCCC	0.597000													6	33					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24621199	24621199	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:24621199C>T	ENST00000558468.1	+	3	553	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RNF31_ENST00000382687.3_Missense_Mutation_p.R559W|RNF31_ENST00000559275.1_Missense_Mutation_p.R559W|RNF31_ENST00000324103.6_Missense_Mutation_p.R710W																							GCCCCACAACCGGGTAAGTCC	0.592000													3	21					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549910	23549910	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:23549910C>T	ENST00000262710.1	-	6	1135	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ACIN1_ENST00000605057.1_Missense_Mutation_p.E212K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E270K|ACIN1_ENST00000457657.1_Missense_Mutation_p.E230K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	270	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		tcttcctcctctGTTTTCAAA	0.478000													20	113					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421791	124421791	+	Silent	SNP	G	G	A	rs144711865	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:124421791G>A	ENST00000545135.1	-	3	4055	c.759C>T	c.(757-759)tcC>tcT	p.S253S	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Silent_p.S253S|CCDC92_ENST00000238156.3_Silent_p.S270S			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	270			A -> T (in dbSNP:rs35935939).							large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGCTTCGGTCGGAGGCGATGG	0.692000													8	38					0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39471646	39471646	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:39471646C>T	ENST00000261434.3	+	8	863	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	LIAS_ENST00000381846.1_Missense_Mutation_p.R206C|LIAS_ENST00000513731.1_Missense_Mutation_p.R119C|LIAS_ENST00000340169.2_Missense_Mutation_p.R249C	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	249					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CAGTAAGGTTCGTGATCCTCG	0.408000													24	39					0	0	1	0	0
HAUS2	55142	broad.mit.edu	37	15	42853541	42853541	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:42853541G>C	ENST00000260372.3	+	4	393	c.330G>C	c.(328-330)agG>agC	p.R110S	HAUS2_ENST00000568876.1_Missense_Mutation_p.R79S|HAUS2_ENST00000568846.2_3'UTR	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	110					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						GATCCCTTAGGCAAAGACTGT	0.358000													11	75					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79826907	79826907	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79826907C>T	ENST00000269321.7	-	6	595	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.E79K|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.E154K|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.E154K|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.E154K	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	154					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCGTACTCCTCGGCCCGGGGC	0.652000													10	22					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531749	6531749	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:6531749T>C	ENST00000361413.3	-	3	764	c.406A>G	c.(406-408)Aag>Gag	p.K136E	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	136						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATTTTATACTTAGTATGTCCA	0.433000													28	60					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160703	2160703	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:2160703C>T	ENST00000378536.4	+	1	570	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	166					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I166I(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCATGGGCATCCTGCCCTTCT	0.667000													4	8					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48096154	48096154	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:48096154C>T	ENST00000264316.4	-	8	734	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	217	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GCGTGTCTTTCAGCCACATAC	0.438000													24	51					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87342636	87342636	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:87342636G>A	ENST00000304053.6	+	9	1404	c.921G>A	c.(919-921)gtG>gtA	p.V307V	NTRK2_ENST00000277120.3_Silent_p.V307V|NTRK2_ENST00000359847.3_Silent_p.V307V|NTRK2_ENST00000376208.1_Silent_p.V307V|NTRK2_ENST00000395882.1_Silent_p.V307V|NTRK2_ENST00000323115.4_Silent_p.V307V|NTRK2_ENST00000376213.1_Silent_p.V307V|NTRK2_ENST00000376214.1_Silent_p.V307V|NTRK2_ENST00000395866.2_Silent_p.V151V	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	307	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CATTCACTGTGAAAGGCAACC	0.418000										TSP Lung(25;0.17)			12	39					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104719391	104719391	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:104719391C>T	ENST00000334877.4	+	12	1763	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	KMT2E_ENST00000476671.1_Missense_Mutation_p.S410F|KMT2E_ENST00000311117.3_Missense_Mutation_p.S410F|KMT2E_ENST00000257745.4_Missense_Mutation_p.S410F|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ATCAGGCGGTCTTGTACACCC	0.438000													23	62					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156235632	156235632	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:156235632G>A	ENST00000361813.5	-	12	1939	c.1795C>T	c.(1795-1797)Cat>Tat	p.H599Y	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	599					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GCCGAGGTATGAGGGTTGGTG	0.567000													20	49					0	0	1	0	0
C12orf57	113246	broad.mit.edu	37	12	7054938	7054938	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:7054938C>T	ENST00000537087.1	+	3	435	c.147C>T	c.(145-147)gtC>gtT	p.V49V	C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000229281.5_Silent_p.V78V|C12orf57_ENST00000540506.2_Silent_p.V43V			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	78										kidney(1)|large_intestine(1)	2						TTGCAGGTGTCCTTAAGTTTG	0.577000													11	11					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522857	20522857	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:20522857C>T	ENST00000359062.3	+	1	679	c.639C>T	c.(637-639)ctC>ctT	p.L213L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	213					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)	TGGGCGTCCTCATGATCGCCT	0.647000													7	31					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508421	48508421	+	Missense_Mutation	SNP	G	G	C	rs77371662		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:48508421G>C	ENST00000296443.9	+	3	1254	c.367G>C	c.(367-369)Gca>Cca	p.A123P	TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.A123P|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000422277.2_Missense_Mutation_p.A178P|TREX1_ENST00000444177.1_Missense_Mutation_p.A113P			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	178					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGCCTGGTGGCACACAATGG	0.607000													12	57					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035528	184035528	+	Silent	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:184035528G>T	ENST00000342981.4	+	5	762	c.348G>T	c.(346-348)ccG>ccT	p.P116P	EIF4G1_ENST00000414031.1_Silent_p.P76P|EIF4G1_ENST00000424196.1_Silent_p.P123P|EIF4G1_ENST00000392537.2_Silent_p.P29P|EIF4G1_ENST00000319274.6_Silent_p.P116P|EIF4G1_ENST00000352767.3_Silent_p.P123P|EIF4G1_ENST00000411531.1_Silent_p.P76P|EIF4G1_ENST00000350481.5_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Silent_p.P29P|EIF4G1_ENST00000346169.2_Silent_p.P116P|EIF4G1_ENST00000382330.3_Silent_p.P123P	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	116					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTTGTCCCGACACAGCAGT	0.562000													3	22					0.150653	0.150866	1	1	0
SLC26A6	65010	broad.mit.edu	37	3	48669190	48669190	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:48669190G>A	ENST00000358747.6	-	6	982	c.732C>T	c.(730-732)ggC>ggT	p.G244G	SLC26A6_ENST00000395550.2_Silent_p.G265G|SLC26A6_ENST00000455886.2_Silent_p.G229G|SLC26A6_ENST00000420764.2_Silent_p.G265G|SLC26A6_ENST00000383733.3_Silent_p.G265G|SLC26A6_ENST00000337000.8_Silent_p.G158G|SLC26A6_ENST00000482282.1_5'UTR	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGACCACGGTGCCAACCTTGC	0.627000													21	68					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52169290	52169290	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:52169290A>C	ENST00000395718.2	+	5	616	c.331A>C	c.(331-333)Aat>Cat	p.N111H	FRMD6_ENST00000554167.1_Missense_Mutation_p.N42H|FRMD6_ENST00000356218.4_Missense_Mutation_p.N111H|FRMD6_ENST00000344768.5_Missense_Mutation_p.N119H	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	119	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTATGTGGAAAATGGCAGATT	0.403000													28	45					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470869	74470869	+	Silent	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:74470869A>G	ENST00000591885.1	-	11	1795	c.1245T>C	c.(1243-1245)ggT>ggC	p.G415G	RHBDF2_ENST00000389760.4_Silent_p.G415G|RHBDF2_ENST00000313080.4_Silent_p.G444G			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	444					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TCTCGTACACACCTTTGTTCC	0.622000													9	50					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154707061	154707061	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:154707061C>T	ENST00000274063.4	-	2	822	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	180	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TTGTCATCATCATTTTTATTT	0.323000													20	24					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622708	112622708	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:112622708G>A	ENST00000550722.1	-	61	10019	c.9624C>T	c.(9622-9624)ttC>ttT	p.F3208F	HECTD4_ENST00000377560.5_Silent_p.F3182F|HECTD4_ENST00000430131.2_Silent_p.F2932F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGCGCGGTGGAACCACAGCA	0.677000													10	40					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869810	35869810	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:35869810C>T	ENST00000377981.2	-	1	651	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGAAGTCTTCGCTGACC	0.612000													17	35					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245227	33245227	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:33245227C>G	ENST00000451237.1	+	1	311	c.31C>G	c.(31-33)Ctc>Gtc	p.L11V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	11					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCGCCTCCTTCTCGCCGCTTT	0.677000													39	56					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35923565	35923565	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:35923565G>A	ENST00000494488.2	+	8	746	c.746G>A	c.(745-747)aGa>aAa	p.R249K	SEPT7_ENST00000350320.6_Missense_Mutation_p.R262K|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Missense_Mutation_p.R264K|SEPT7_ENST00000435235.1_Missense_Mutation_p.R210K|SEPT7_ENST00000399035.3_Missense_Mutation_p.R262K|SEPT7_ENST00000469679.2_Intron			Q16181	SEPT7_HUMAN	septin 7	263					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AAAAGGGTCAGAGGAAGGCAG	0.338000													7	27					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28283955	28283955	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:28283955C>T	ENST00000305242.5	-	2	209	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	39							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						AGATAAAACTCTCCACAAACA	0.413000													5	44					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847648	96847648	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:96847648G>A	ENST00000375360.3	+	3	538	c.198G>A	c.(196-198)gaG>gaA	p.E66E	PTPDC1_ENST00000288976.3_Silent_p.E118E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	66							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GCAAGTATGAGAACCCAGCCC	0.512000													11	66					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44053554	44053554	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:44053554G>A	ENST00000260645.1	-	6	880	c.741C>T	c.(739-741)ctC>ctT	p.L247L	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	247	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGAATGGTGAGAACCACAA	0.542000													24	27					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024297	47024297	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:47024297G>C	ENST00000371946.4	-	14	1511	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.L314V|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.L409V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	450					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCCTGGGCCAGGGCCCGTCTC	0.627000													4	24					0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59523078	59523078	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:59523078G>A	ENST00000437946.2	+	0	230				STX3_ENST00000529177.1_De_novo_Start_InFrame|STX3_ENST00000337979.4_De_novo_Start_InFrame|STX3_ENST00000535361.1_De_novo_Start_InFrame|STX3_ENST00000300150.7_Intron			Q13277	STX3_HUMAN	syntaxin 3						cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TGGGCTTCAGGATGAAGGACC	0.711000													7	22					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111542361	111542361	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:111542361C>T	ENST00000354925.2	-	6	2054	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	PITX2_ENST00000306732.3_Missense_Mutation_p.E124K|PITX2_ENST00000355080.5_Missense_Mutation_p.E71K|PITX2_ENST00000557119.2_Missense_Mutation_p.E124K|PITX2_ENST00000394598.2_Missense_Mutation_p.E117K|PITX2_ENST00000394595.3_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	117					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E124Q(1)|p.E117Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ACAGCGATTTCTTCGCGTGTG	0.627000													6	23					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57697428	57697428	+	Silent	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:57697428G>T	ENST00000562631.1	+	14	2530	c.1998G>T	c.(1996-1998)ctG>ctT	p.L666L	GPR56_ENST00000567835.1_Silent_p.L672L|GPR56_ENST00000562558.1_Silent_p.L666L|GPR56_ENST00000568909.1_Silent_p.L672L|GPR56_ENST00000379696.3_Silent_p.L672L|GPR56_ENST00000379694.4_Silent_p.L502L|GPR56_ENST00000544297.1_Silent_p.L491L|GPR56_ENST00000456916.1_Silent_p.L672L|GPR56_ENST00000388812.4_Silent_p.L672L|GPR56_ENST00000568908.1_Silent_p.L666L|GPR56_ENST00000540164.2_Silent_p.L666L|GPR56_ENST00000538815.1_Silent_p.L666L|GPR56_ENST00000388813.5_Silent_p.L666L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	672					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCTCCCCTCTGAAGAGCAACT	0.662000													9	29					0.00829132	0.00837376	1	1	0
KIAA1614	57710	broad.mit.edu	37	1	180904939	180904939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:180904939C>T	ENST00000367588.4	+	5	1949	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	KIAA1614_ENST00000367587.1_Nonsense_Mutation_p.Q253*	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	632										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGGACCTCTCAGGCTGGCTG	0.677000													9	27					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110081457	110081457	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:110081457G>C	ENST00000230124.3	+	11	1266	c.1142G>C	c.(1141-1143)cGa>cCa	p.R381P	FIG4_ENST00000441478.2_Missense_Mutation_p.R104P	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	381	SAC.				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)		ATAAAGGAACGAGAGAAAAGA	0.333000													4	25					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66597627	66597627	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:66597627C>T	ENST00000261233.4	+	2	691	c.270C>T	c.(268-270)ctC>ctT	p.L90L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	90	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TACAGGTCCTCCAGGAGATGG	0.373000													22	65					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569842	30569842	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30569842G>C	ENST00000376511.2	-	19	3136	c.2584C>G	c.(2584-2586)Cat>Gat	p.H862D		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	862	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGGACATCATGAGGCCGGTGG	0.687000													6	21					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82996918	82996918	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:82996918C>T	ENST00000529689.1	-	1	532	c.98G>A	c.(97-99)aGa>aAa	p.R33K	CCDC90B_ENST00000529073.1_Missense_Mutation_p.R33K|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	33						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGCCTCACCTCTCCGCAGGGC	0.627000													7	6					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21596103	21596103	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:21596103C>T	ENST00000244745.1	+	1	2132	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	SOX4_ENST00000543472.1_Silent_p.F446F	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	446					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACTTCGAGTTCCCGGACTACT	0.612000													4	9					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14989313	14989313	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:14989313C>T	ENST00000361010.3	-	4	389	c.315G>A	c.(313-315)gtG>gtA	p.V105V	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Silent_p.V105V	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	105					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGTTGTTCTTCACCACACCCC	0.552000													13	45					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67833369	67833369	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:67833369G>A	ENST00000255674.6	-	14	2144	c.1858C>T	c.(1858-1860)Ctc>Ttc	p.L620F	RTTN_ENST00000454359.1_Missense_Mutation_p.L620F|RTTN_ENST00000437017.1_Missense_Mutation_p.L620F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	620							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AACATATGGAGAAGCACCTTC	0.433000													6	23					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34044340	34044340	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:34044340G>C	ENST00000262325.7	+	20	3264	c.2711G>C	c.(2710-2712)cGt>cCt	p.R904P	AP2B1_ENST00000537622.2_Missense_Mutation_p.R918P|AP2B1_ENST00000312678.8_Missense_Mutation_p.R918P|AP2B1_ENST00000592545.1_Missense_Mutation_p.R880P|AP2B1_ENST00000538556.1_Missense_Mutation_p.R847P|AP2B1_ENST00000589344.1_Missense_Mutation_p.R918P|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	904	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.R918P(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCGAACTACGTATCCAGCCA	0.463000													8	60					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56185414	56185414	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:56185414C>T	ENST00000450554.2	+	12	2355	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.H470Y|U2AF2_ENST00000590551.1_Missense_Mutation_p.H302Y|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	470	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGACTCTTATCACCGCCGGGA	0.632000													11	27					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13007083	13007083	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:13007083C>T	ENST00000222214.5	+	8	911	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GCDH_ENST00000591470.1_Missense_Mutation_p.R234W|GCDH_ENST00000457854.1_Missense_Mutation_p.R234W|GCDH_ENST00000422947.2_Missense_Mutation_p.R190W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	234					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TGGCTGCATTCGGGGCTTCCT	0.607000													14	53					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037644	220037644	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:220037644C>T	ENST00000409789.1	-	9	1324	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CNPPD1_ENST00000360507.5_Silent_p.L299L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	299					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TGCTGCCTTCCAGGCAGCTGG	0.642000													10	50					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40769548	40769548	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:40769548T>C	ENST00000397128.2	-	5	574	c.566A>G	c.(565-567)aAc>aGc	p.N189S	PRKAA1_ENST00000354209.3_Missense_Mutation_p.N204S|PRKAA1_ENST00000296800.4_Missense_Mutation_p.N180S	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	189	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGCAGCATAGTTGGGTGAGCC	0.373000													31	80					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109685857	109685857	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:109685857G>A	ENST00000277225.5	+	2	482	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ZNF462_ENST00000457913.1_Missense_Mutation_p.E65K|RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.E65K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	65					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATAAAGGATGAATTTGCCAT	0.423000													10	68					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115598580	115598580	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:115598580G>A	ENST00000374232.3	+	5	869	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	235					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTACAAGCTGAGGACTCGGC	0.507000													19	83					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804556	44804556	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:44804556G>A	ENST00000309315.4	+	15	2068	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.E623K|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.E591K|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.E649K|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.E617K	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	649					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTTTGCTGGAGGGCCTGGA	0.552000													12	40					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154732187	154732187	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:154732187A>G	ENST00000607772.1	-	11	1704	c.1160T>C	c.(1159-1161)tTc>tCc	p.F387S	CNKSR3_ENST00000433165.2_Missense_Mutation_p.F212S|CNKSR3_ENST00000479339.1_Missense_Mutation_p.F307S	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	387	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTGGTCCAAGAAGGAATTCGG	0.488000													16	56					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182304	3182304	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:3182304G>A	ENST00000355072.5	+	36	4820	c.4675G>A	c.(4675-4677)Gat>Aat	p.D1559N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1559					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.D1559N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAATAAAGCTGATGCAGGAAA	0.453000													9	54					0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133277905	133277905	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:133277905C>T	ENST00000545677.1	+	3	286	c.83C>T	c.(82-84)gCg>gTg	p.A28V	PXMP2_ENST00000317479.3_Missense_Mutation_p.R157W|PXMP2_ENST00000539093.1_Missense_Mutation_p.A28V|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.A28V|PXMP2_ENST00000428960.2_Missense_Mutation_p.R64W			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GATGAACTGGCGGGTGTGGAC	0.592000													28	51					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29762900	29762900	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:29762900C>T	ENST00000375398.2	-	32	5845	c.5396G>A	c.(5395-5397)gGa>gAa	p.G1799E	SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.G1373E|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.G1799E|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.G713E|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	1799					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGAGTGCTCTCCCTTCTGGCG	0.602000													3	19					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976712	47976712	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:47976712G>T	ENST00000543600.1	-	2	553	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L189I			Q6ZW05	CF138_HUMAN	patched domain containing 4	189						integral to membrane	hedgehog receptor activity										TCCCCTATGAGGTCTTGGGTG	0.498000													11	41					0.000151284	0.000154323	1	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4453499	4453499	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:4453499G>A	ENST00000254718.4	-	9	1479	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	MYBBP1A_ENST00000381556.2_Silent_p.F391F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	391	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGACCCGCCAGAAAGTAGGCG	0.637000													12	87					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55237267	55237267	+	Translation_Start_Site	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:55237267G>C	ENST00000394609.2	-	0	318				RTN4_ENST00000354474.6_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000337526.6_Intron	NM_007008.2	NP_008939.1	Q9NQC3	RTN4_HUMAN	reticulon 4						apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTCTTGTCACGATCTGCTTTG	0.368000													32	48					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29557392	29557392	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:29557392C>T	ENST00000263702.6	-	1	52	c.27G>A	c.(25-27)cgG>cgA	p.R9R	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	9					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGGTTCGCACCCGCCACAGGG	0.721000													4	10					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523819	55523819	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:55523819G>A	ENST00000302118.5	+	8	1581	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.E231K	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	431	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTGGTTCCCTGAGGACCAGCG	0.637000													24	41					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903401	32903401	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:32903401C>T	ENST00000418107.2	-	4	913	c.651G>A	c.(649-651)ctG>ctA	p.L217L		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	217	Connecting peptide (Potential).				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	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGAAACCTTCAGGGTCTGCA	0.537000													5	37					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894153	133894153	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:133894153C>T	ENST00000220616.4	+	6	724	c.684C>T	c.(682-684)ttC>ttT	p.F228F	TG_ENST00000377869.1_Silent_p.F228F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	228	Thyroglobulin type-1 3.				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)		AGAGGAGGTTCCCTGAGGTAT	0.512000													19	43					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27217514	27217514	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:27217514G>A	ENST00000361720.5	-	7	1588	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	522						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTCAGGCAATGAGGGGCTGTC	0.567000													6	19					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873284	151873284	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:151873284G>A	ENST00000355193.2	-	38	9472	c.9254C>T	c.(9253-9255)cCt>cTt	p.P3085L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P3085L					lysine (K)-specific methyltransferase 2C																		ACCAATATTAGGGAAGAACGG	0.388000													33	107					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323754	43323754	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:43323754C>T	ENST00000361428.2	-	4	1395	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	ZNF318_ENST00000318149.3_Missense_Mutation_p.E440K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	440					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAGGCAGTCTCTACCATAGTC	0.502000													11	75					0	0	1	0	0
NDUFS4	4724	broad.mit.edu	37	5	52899319	52899319	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:52899319C>A	ENST00000296684.5	+	2	164	c.136C>A	c.(136-138)Cag>Aag	p.Q46K		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	46					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	GGCACAGGACCAGACTCAAGA	0.413000													19	35					4.35082e-09	4.50281e-09	1	1	0
NFE2L3	9603	broad.mit.edu	37	7	26224648	26224648	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:26224648G>A	ENST00000056233.3	+	4	1589	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	444					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGTGTGTGATGAAGGTGCTAT	0.418000													33	108					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37286069	37286069	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:37286069C>T	ENST00000233099.5	-	13	2006	c.1911G>A	c.(1909-1911)ttG>ttA	p.L637L	HEATR5B_ENST00000354531.2_Silent_p.L637L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	637							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAGGGGTCATCAATTTTCGAA	0.363000													19	21					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114869259	114869259	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:114869259G>A	ENST00000420625.2	+	7	783	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PLS3_ENST00000537301.1_Missense_Mutation_p.E195K|PLS3_ENST00000539310.1_Missense_Mutation_p.E172K|PLS3_ENST00000355899.3_Missense_Mutation_p.E217K|PLS3_ENST00000289290.3_Missense_Mutation_p.E172K	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	217	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding	p.E217K(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CATTGGTGCAGAAGATTTGAG	0.448000													19	29					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2646795	2646795	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:2646795A>T	ENST00000402050.2	+	21	2087	c.1903A>T	c.(1903-1905)Agg>Tgg	p.R635W	IQCE_ENST00000325979.7_Missense_Mutation_p.R570W|IQCE_ENST00000438376.2_Missense_Mutation_p.R619W|IQCE_ENST00000404984.1_Missense_Mutation_p.R584W	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	635										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGCTTCTACCAGGAGGAGATC	0.522000													5	55					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39109921	39109921	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:39109921G>A	ENST00000545173.2	+	1	89	c.13G>A	c.(13-15)Gag>Aag	p.E5K	EIF3K_ENST00000592558.1_Missense_Mutation_p.E5K|EIF3K_ENST00000248342.4_Missense_Mutation_p.E5K|EIF3K_ENST00000588934.1_Missense_Mutation_p.E5K|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000538434.1_5'UTR|EIF3K_ENST00000593149.1_Intron			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	5					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCGATGTTTGAGCAGATGAG	0.612000													6	12					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104477	47104477	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:47104477G>A	ENST00000377107.2	+	16	2503	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	USP11_ENST00000218348.3_Missense_Mutation_p.E760K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	760					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGACGAGGTAGAGGCTGAGGT	0.562000													19	7					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48748973	48748973	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:48748973G>A	ENST00000314191.2	-	59	7930	c.7874C>T	c.(7873-7875)tCa>tTa	p.S2625L	PRKDC_ENST00000338368.3_Missense_Mutation_p.S2625L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2626	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.S2626L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGCGAGCTGAGAGGGACCC	0.602000								Non-homologous end-joining					6	18					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77750761	77750761	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:77750761G>A	ENST00000381714.3	+	3	440	c.12G>A	c.(10-12)ttG>ttA	p.L4L	HMG20A_ENST00000336216.4_Silent_p.L4L	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	4					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGAAAACTTGATGACTAGCT	0.413000													6	39					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23481411	23481411	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:23481411G>A	ENST00000309859.4	-	15	1608	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	509	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGGGTGCCCAGGGGCTCCCGT	0.557000													9	48					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184311	60184311	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:60184311G>A	ENST00000300187.6	+	5	2147	c.1870G>A	c.(1870-1872)Gtt>Att	p.V624I	MS4A14_ENST00000395005.2_Missense_Mutation_p.V607I|MS4A14_ENST00000531787.1_Missense_Mutation_p.V512I|MS4A14_ENST00000531783.1_Missense_Mutation_p.V657I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	624	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATTCCAAAATGTTCAAGCCGA	0.453000													6	52					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75937935	75937935	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:75937935G>A	ENST00000321027.3	-	1	180	c.47C>T	c.(46-48)tCc>tTc	p.S16F	GCFC2_ENST00000541687.1_Missense_Mutation_p.S16F|GCFC2_ENST00000409857.3_Missense_Mutation_p.S16F|GCFC2_ENST00000470503.1_Missense_Mutation_p.S16F	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	16					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S16F(1)									GCTGTCGCTGGAATCAGCCGC	0.701000													5	2					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765865	66765865	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:66765865T>G	ENST00000374690.3	+	1	1401	c.877T>G	c.(877-879)Tct>Gct	p.S293A	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.S293A|AR_ENST00000396044.3_Missense_Mutation_p.S293A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	291	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATGCAAAGGTTCTCTGCTAGA	0.567000									Androgen Insensitivity Syndrome				16	20					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158980	58158980	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:58158980G>C	ENST00000228606.4	-	4	813	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	202					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GAGCCGAGCAGAACCGCGGCG	0.692000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	1	0	0
MIR124-3	406909	broad.mit.edu	37	20	61809937	61809937	+	RNA	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:61809937C>T	ENST00000423020.1	-	0	188				MIR124-3_ENST00000384866.1_RNA																							AGAGGCGCCTCCGCCGCTCCT	0.687000													5	10					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23854959	23854959	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:23854959G>A	ENST00000269142.5	+	5	1822	c.824G>A	c.(823-825)aGt>aAt	p.S275N	TAF4B_ENST00000400466.2_Missense_Mutation_p.S275N|TAF4B_ENST00000578121.1_Missense_Mutation_p.S275N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	275	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CTAGCATGTAGTGGATCACAG	0.358000													10	31					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81735360	81735360	+	Silent	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:81735360C>A	ENST00000537098.3	+	16	1923	c.1851C>A	c.(1849-1851)cgC>cgA	p.R617R	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.R464R|CMIP_ENST00000539778.2_Silent_p.R523R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	583						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TGGGGAAGCGCATGTACGAGC	0.612000													19	98					5.03518e-11	5.2416e-11	1	1	0
PPP1R10	5514	broad.mit.edu	37	6	30569827	30569827	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30569827G>A	ENST00000376511.2	-	19	3151	c.2599C>T	c.(2599-2601)Cac>Tac	p.H867Y		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	867	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGGCCTCGGTGACCAGGGACA	0.687000													5	20					0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003858	52003858	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:52003858G>A	ENST00000461108.1	-	3	638	c.554C>T	c.(553-555)tCt>tTt	p.S185F	RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000315877.10_Intron|ABHD14B_ENST00000487005.1_Intron|ABHD14B_ENST00000395008.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14B_ENST00000361143.5_Intron|RP11-155D18.14_ENST00000489595.2_Intron|ABHD14B_ENST00000525795.1_Intron			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	0						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GCTCCTCCCAGAAGACACCCC	0.567000													5	18					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596906	228596906	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:228596906G>A	ENST00000366697.2	-	5	1806	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.P284S|TRIM17_ENST00000456946.2_Missense_Mutation_p.P284S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P284S			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	284	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ATCTGTCCGGGAACTCTGCAC	0.592000													38	136					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89834871	89834871	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:89834871G>C	ENST00000310775.7	+	20	2004	c.1918G>C	c.(1918-1920)Gat>Cat	p.D640H	FANCI_ENST00000300027.8_Missense_Mutation_p.D640H	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	640					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCAAAACCTGATCTGCTGCC	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	100					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204693	43204693	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:43204693G>A	ENST00000255226.6	+	2	880	c.64G>A	c.(64-66)Gag>Aag	p.E22K	SLC14A2_ENST00000586448.1_Missense_Mutation_p.E22K	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	22						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAACTCTACGAGGCAGAGTT	0.562000													12	42					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054455	64054455	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:64054455G>A	ENST00000539851.1	+	3	843	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	GPR137_ENST00000411458.1_Missense_Mutation_p.V184M|GPR137_ENST00000377702.4_Missense_Mutation_p.V126M|GPR137_ENST00000438980.2_Missense_Mutation_p.V126M|GPR137_ENST00000313074.3_Missense_Mutation_p.V126M	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	126						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CAAGGCCAAGGTGAAGCGTCG	0.622000													4	37					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15858863	15858863	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:15858863C>T	ENST00000277632.3	-	10	1073	c.853G>A	c.(853-855)Gag>Aag	p.E285K	FAM188A_ENST00000378036.1_5'UTR|FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	285					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGGTGAGTCTCACTGCCAACA	0.303000													23	58					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740308	2740308	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:2740308G>A	ENST00000312371.4	+	2	591	c.223G>A	c.(223-225)Gag>Aag	p.E75K	AMZ1_ENST00000407112.1_Missense_Mutation_p.E75K	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	75							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGAGGCTCCCGAGGACTTCCA	0.667000													24	61					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44601724	44601724	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:44601724G>A	ENST00000245121.5	+	11	1063	c.869G>A	c.(868-870)aGa>aAa	p.R290K	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R362K|KATNAL2_ENST00000592005.1_Missense_Mutation_p.R43K	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	362						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ATGAGTCAGAGAGGCACAGCT	0.522000													11	18					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773234	151773234	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:151773234C>T	ENST00000535741.1	-	23	4101	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	LRBA_ENST00000510413.1_Missense_Mutation_p.E1210K|LRBA_ENST00000357115.3_Missense_Mutation_p.E1210K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1210K			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1210						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)					TTCCCTTCCTCCAGCATCTGA	0.418000													47	58					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53344643	53344643	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:53344643G>A	ENST00000550600.1	+	4	664	c.610G>A	c.(610-612)Gag>Aag	p.E204K	KRT18_ENST00000388837.2_Missense_Mutation_p.E204K|KRT18_ENST00000388835.3_Missense_Mutation_p.E204K			P05783	K1C18_HUMAN	keratin 18	204	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GACAGAGATCGAGGCTCTCAA	0.572000													10	14					0	0	1	0	0
HIGD2A	192286	broad.mit.edu	37	5	175815914	175815914	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:175815914C>T	ENST00000274787.2	+	1	167	c.94C>T	c.(94-96)Cca>Tca	p.P32S	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	32	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TTACAGGAATCCAGAGAGTTT	0.572000													17	73					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084960	152084960	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:152084960C>T	ENST00000368804.1	-	2	732	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	245					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCACTCTTTCTCTTCT	0.587000													52	98					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190380	72190380	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:72190380C>G	ENST00000356056.5	-	25	4936	c.4464G>C	c.(4462-4464)aaG>aaC	p.K1488N	MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1488	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAACTTCTTAAGCACAG	0.378000													22	60					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10588538	10588538	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:10588538G>A	ENST00000381902.2	-	1	54	c.48C>T	c.(46-48)gaC>gaT	p.D16D	KLRC2_ENST00000381901.1_Silent_p.D16D|KLRC2_ENST00000536833.2_Intron|NKG2-E_ENST00000539033.1_Silent_p.D16D	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	16					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCGCTTTGGGTCCTGGGCCA	0.433000													17	194					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84948649	84948649	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:84948649G>A	ENST00000370654.5	+	3	352	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	RPF1_ENST00000370656.1_Missense_Mutation_p.E113K	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	113					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGTGTATGATGAAACCACAGT	0.323000													14	35					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33644566	33644566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:33644566C>T	ENST00000374316.5	+	27	4364	c.3304C>T	c.(3304-3306)Cag>Tag	p.Q1102*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.Q1102*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1102					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GATCTCAGCGCAGGACGTGGA	0.587000													3	36					0	0	1	0	0
SRA1	10011	broad.mit.edu	37	5	139930497	139930497	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:139930497C>T	ENST00000336283.6	-	5	1321		c.e5-1		SRA1_ENST00000520427.1_Splice_Site	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1						apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGAAAGCTCTGAAGAGAGA	0.547000													16	30					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925348	188925348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:188925348C>T	ENST00000345063.3	+	2	342	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q59*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	59										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATCATCAGCCTTATAT	0.408000													32	77					0	0	1	0	0
NCMAP	400746	broad.mit.edu	37	1	24932103	24932103	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:24932103G>A	ENST00000374392.2	+	4	240	c.174G>A	c.(172-174)atG>atA	p.M58I	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		ACAGGAAAATGAGGACGAGGC	0.577000													5	22					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48370632	48370632	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:48370632C>T	ENST00000380518.3	-	48	3562	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	COL2A1_ENST00000337299.6_Missense_Mutation_p.R1064H|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1133	Triple-helical region.				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)	AGTGAAGCCACGGTGTCCCTT	0.627000													4	10					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109968928	109968928	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:109968928C>T	ENST00000271308.4	-	1	45	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSMA5_ENST00000538610.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		ACGGACCTGTCGTACTCAGAC	0.672000													11	70					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774084	66774084	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:66774084G>A	ENST00000416602.2	+	0	525					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGGCTTCTCAGACTCACAAGT	0.507000													19	40					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241597	155241597	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:155241597C>G	ENST00000357232.4	-	14	3588	c.3589G>C	c.(3589-3591)Gga>Cga	p.G1197R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTACTTTTCCATTCCTTCCT	0.418000													80	71					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11894401	11894401	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:11894401C>T	ENST00000346436.6	+	16	1687	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	CLCN6_ENST00000376496.3_Silent_p.I545I|CLCN6_ENST00000376487.3_Silent_p.I523I|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	545					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGATCGAGTCCACCA	0.612000													14	32					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43318511	43318511	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:43318511C>T	ENST00000331495.3	+	13	1582	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	FMNL1_ENST00000587489.1_5'UTR|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R416W|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	416	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAGCGGCTTCGGGACGCGGA	0.657000													5	25					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23436128	23436128	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:23436128G>A	ENST00000307149.5	-	7	1136	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	317					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGGCGTCGTAGAACTCCAGCA	0.627000													14	79					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21806663	21806663	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:21806663G>A	ENST00000449193.2	-	4	2341	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SKIDA1_ENST00000444772.3_Missense_Mutation_p.S30F	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GAAGACTTGGGAGAGGGCAAA	0.517000													16	29					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46616309	46616309	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr13:46616309G>A	ENST00000242848.4	-	4	677	c.329C>T	c.(328-330)tCa>tTa	p.S110L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S110L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	110							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTAACAGGTGAGGATGACTC	0.393000													5	49					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927275	55927275	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:55927275G>A	ENST00000313447.1	-	1	518	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATGACTGATGACATTAGAGC	0.358000													27	51					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002359	69002359	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:69002359C>T	ENST00000295381.3	+	2	487	c.68C>T	c.(67-69)tCa>tTa	p.S23L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S16L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S23L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.S16L|ARHGAP25_ENST00000544262.1_5'UTR|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S23L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S16L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	23					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATAGCTCGGTCAAGGAGTGTG	0.612000													115	127					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182788853	182788853	+	Missense_Mutation	SNP	C	C	G	rs148088842		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:182788853C>G	ENST00000492597.1	-	6	1070	c.368G>C	c.(367-369)cGg>cCg	p.R123P	MCCC1_ENST00000265594.4_Missense_Mutation_p.R232P|MCCC1_ENST00000539926.1_Missense_Mutation_p.R97P			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	232	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGCTTCTCTCCGTGCTGACTC	0.373000													6	84					0	0	1	0	0
PHYKPL	85007	broad.mit.edu	37	5	177656982	177656982	+	Silent	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:177656982G>C	ENST00000308158.5	-	3	531	c.297C>G	c.(295-297)acC>acG	p.T99T	PHYKPL_ENST00000481811.1_Intron|PHYKPL_ENST00000476170.2_Silent_p.T99T	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		GCTCCGGCAGGGTCTCTGACA	0.557000													14	58					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927057	148927057	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:148927057G>A	ENST00000264613.6	-	4	984	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	241	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTCTGGTTCTGAGCAGTAGGT	0.363000													23	63					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159373	118159373	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:118159373C>T	ENST00000427715.2	+	5	539	c.105C>T	c.(103-105)ttC>ttT	p.F35F	SLC30A8_ENST00000521243.1_Silent_p.F35F|SLC30A8_ENST00000456015.2_Silent_p.F84F|SLC30A8_ENST00000519688.1_Silent_p.F35F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	84					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCTTCATTTTCATGATTGCAG	0.448000													57	54					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184801060	184801060	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:184801060G>A	ENST00000335012.2	-	2	678	c.488C>T	c.(487-489)tCt>tTt	p.S163F		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	163										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ATCGTGTGCAGAGACCTCCTC	0.443000													19	50					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27453238	27453238	+	Splice_Site	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:27453238T>C	ENST00000295736.5	-	12	1704	c.1634A>G	c.(1633-1635)gAa>gGa	p.E545G	SLC4A7_ENST00000455077.1_Splice_Site_p.E426G|SLC4A7_ENST00000446700.1_Splice_Site_p.E537G|SLC4A7_ENST00000435667.2_Splice_Site_p.E430G|SLC4A7_ENST00000454389.1_Splice_Site_p.E554G|SLC4A7_ENST00000437179.1_Splice_Site_p.E426G|SLC4A7_ENST00000440156.1_Splice_Site_p.E541G|SLC4A7_ENST00000445684.1_Splice_Site_p.E541G|SLC4A7_ENST00000425128.2_Splice_Site_p.E537G|SLC4A7_ENST00000428386.1_Splice_Site_p.E421G|SLC4A7_ENST00000388777.4_Splice_Site_p.E95G	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	545						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTTCTCTTTTCCTGAATTTC	0.378000													6	10					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080206	57080206	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:57080206G>A	ENST00000532437.1	-	4	2267	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	TNKS1BP1_ENST00000358252.3_Silent_p.T652T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	652	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCGGGCTAGGGTCACGGCCT	0.657000													10	26					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60112905	60112905	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:60112905C>T	ENST00000397786.2	-	4	611	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	179					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGTTAATTTCCACACTGGTA	0.363000													16	43					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26598534	26598534	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:26598534C>T	ENST00000274849.1	+	3	511	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	160					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCGAGCACCTCGCCTTTGAGC	0.542000													25	98					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13007178	13007178	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:13007178C>G	ENST00000222214.5	+	8	1006	c.795C>G	c.(793-795)atC>atG	p.I265M	GCDH_ENST00000591470.1_Missense_Mutation_p.I265M|GCDH_ENST00000457854.1_Missense_Mutation_p.I265M|GCDH_ENST00000422947.2_Missense_Mutation_p.I221M			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	265					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GCATGATCATCATGGACGGTG	0.632000													6	20					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643432	16643432	+	Silent	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:16643432C>G	ENST00000546361.2	-	5	802	c.651G>C	c.(649-651)ctG>ctC	p.L217L	CHERP_ENST00000198939.6_Silent_p.L217L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	217	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CGTCATTGATCAGGTAGATGA	0.672000													8	24					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45872210	45872210	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:45872210C>T	ENST00000391945.4	-	4	301	c.224G>A	c.(223-225)aGa>aAa	p.R75K	ERCC2_ENST00000391944.3_Missense_Mutation_p.R75K|ERCC2_ENST00000391940.4_Missense_Mutation_p.R51K|ERCC2_ENST00000485403.2_Missense_Mutation_p.R51K|ERCC2_ENST00000221481.6_Missense_Mutation_p.R75K	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	75	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGCACAGTTCTTGAGCAGTA	0.587000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	81					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35554834	35554834	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:35554834C>T	ENST00000536438.1	-	9	1132	c.817G>A	c.(817-819)Gag>Aag	p.E273K	FKBP5_ENST00000540787.1_Missense_Mutation_p.E94K|FKBP5_ENST00000542713.1_Silent_p.K242K|FKBP5_ENST00000539068.1_Missense_Mutation_p.E273K|FKBP5_ENST00000357266.4_Missense_Mutation_p.E273K	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	273					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTTCCCTTCTCTTTGACAATG	0.413000													52	85					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889906	30889906	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:30889906C>T	ENST00000475541.1	-	1	1325	c.393G>A	c.(391-393)ctG>ctA	p.L131L	PURG_ENST00000339382.2_Silent_p.L131L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	131						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGTGGCCTTTCAGGCCCAGGT	0.592000													34	70					0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54660723	54660723	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:54660723C>T	ENST00000222224.3	-	3	539	c.353G>A	c.(352-354)gGc>gAc	p.G118D		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	118										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGCACTCTGGCCCAGGTATGT	0.592000													12	43					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643425	16643425	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:16643425C>A	ENST00000546361.2	-	5	809	c.658G>T	c.(658-660)Gac>Tac	p.D220Y	CHERP_ENST00000198939.6_Missense_Mutation_p.D220Y|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	220	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGCAGCACGTCATTGATCAGG	0.677000													10	22					0.00621372	0.00628443	1	1	0
PNLIP	5406	broad.mit.edu	37	10	118315611	118315611	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:118315611C>T	ENST00000369221.2	+	9	939	c.911C>T	c.(910-912)tCt>tTt	p.S304F		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	304					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CCCTGTGCCTCTTACAACGTC	0.453000													34	98					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95076916	95076916	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:95076916G>T	ENST00000545558.1	-	7	2483	c.1991C>A	c.(1990-1992)tCt>tAt	p.S664Y	NOL8_ENST00000542053.1_Missense_Mutation_p.S596Y|NOL8_ENST00000442668.2_Missense_Mutation_p.S664Y|NOL8_ENST00000358855.4_Missense_Mutation_p.S596Y|NOL8_ENST00000535387.1_Missense_Mutation_p.S664Y			Q76FK4	NOL8_HUMAN	nucleolar protein 8	664					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTCTTTTCAGAACTGCTAGG	0.428000													7	28					0.00198382	0.00200925	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85992614	85992614	+	Missense_Mutation	SNP	C	C	T	rs140717731		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:85992614C>T	ENST00000372105.3	-	4	962	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	314	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGCAGGCAGGCCCAGCAGAGT	0.562000													4	22					0	0	1	0	0
C15orf37	283687	broad.mit.edu	37	15	80215427	80215427	+	Silent	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:80215427G>C	ENST00000560255.1	+	1	315	c.312G>C	c.(310-312)cgG>cgC	p.R104R	ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						GGATCCTCCGGGACGTCCTCC	0.716000													4	7					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	96074881	96074881	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:96074881C>G	ENST00000524717.1	-	1	1463	c.179G>C	c.(178-180)cGa>cCa	p.R60P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	60					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGCCCTACCTCGTTCATATCG	0.602000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430789	51430789	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:51430789C>T	ENST00000323686.4	+	1	2059	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	653					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAACTCCCTCAGCAACAGCA	0.647000													6	15					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63510163	63510163	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:63510163C>T	ENST00000389100.4	+	4	1082	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.S337L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	337	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GACCTGCCCTCAGCTGGCAGG	0.498000													12	34					0	0	1	0	0
REEP5	7905	broad.mit.edu	37	5	112214500	112214500	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:112214500C>T	ENST00000379638.4	-	5	901	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron|REEP5_ENST00000513339.1_3'UTR|REEP5_ENST00000545426.1_3'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	185						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CTCTTCTTTTCTTCACCCAGT	0.408000													10	36					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78587101	78587101	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:78587101G>A	ENST00000396137.4	+	4	1968	c.1506G>A	c.(1504-1506)cgG>cgA	p.R502R		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	502	Interaction with p300/EP300 (By similarity).				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGGAACAGCGGAAACATGCAC	0.373000													11	41					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													31	55					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796248	41796248	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:41796248G>A	ENST00000263800.6	-	20	2637	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	LTK_ENST00000453182.2_Silent_p.L717L|LTK_ENST00000355166.5_Silent_p.L786L|LTK_ENST00000561619.1_Silent_p.L545L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	847					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCTGGATTTGAGGGGCTTGA	0.607000										TSP Lung(18;0.14)			11	30					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69392326	69392326	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:69392326C>T	ENST00000193403.6	-	2	552	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ACTN1_ENST00000438964.2_Missense_Mutation_p.E57K|ACTN1_ENST00000538545.2_Missense_Mutation_p.E57K|ACTN1_ENST00000376839.3_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.E57K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	57	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGAAGTCCTCTTCGATGTTC	0.587000													8	46					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72080492	72080492	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:72080492G>A	ENST00000266673.5	+	1	626	c.32G>A	c.(31-33)aGa>aAa	p.R11K	RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_Missense_Mutation_p.R11K	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	11						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATATGCAAAAGATATATAAAG	0.343000													30	79					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139244747	139244747	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:139244747C>T	ENST00000394770.1	-	6	1425	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	NRG2_ENST00000289422.7_Intron|NRG2_ENST00000361474.1_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.G375E|NRG2_ENST00000340391.3_Intron|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000358522.3_Missense_Mutation_p.G375E|NRG2_ENST00000289409.4_Missense_Mutation_p.G375E			O14511	NRG2_HUMAN	neuregulin 2	0					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGTGTATCCCACAGGACA	0.522000													7	26					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948930	2948930	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:2948930C>T	ENST00000380520.1	-	6	2727	c.733G>A	c.(733-735)Gag>Aag	p.E245K	SERPINB6_ENST00000380539.1_Missense_Mutation_p.E245K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E245K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E245K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E245K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E245K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	245					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGTTCTTTCTCCACCTAGAGG	0.547000													65	146					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47446544	47446544	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:47446544G>A	ENST00000265562.4	+	4	414	c.337G>A	c.(337-339)Gag>Aag	p.E113K	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	113	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCAAGTACGAGCAGGCCTG	0.587000													17	56					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899600	53899600	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:53899600G>A	ENST00000266987.2	+	8	1392	c.909G>A	c.(907-909)gaG>gaA	p.E303E	TARBP2_ENST00000394357.2_Silent_p.E282E|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.E282E	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	303	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AGCTCTCTGAGGAGCAGGCCT	0.627000													5	64					0	0	1	0	0
REEP5	7905	broad.mit.edu	37	5	112214531	112214531	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:112214531C>T	ENST00000379638.4	-	5	870	c.522G>A	c.(520-522)gcG>gcA	p.A174A	CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron|REEP5_ENST00000513339.1_Splice_Site_p.R118Q|REEP5_ENST00000545426.1_3'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	174						integral to membrane	protein binding	p.A174A(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TAGCTTTCTTCGCTGTTTGTT	0.413000													8	33					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48745850	48745850	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:48745850G>A	ENST00000285238.8	+	14	1922	c.1842G>A	c.(1840-1842)caG>caA	p.Q614Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	614					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGACCCCCAGAGTGTGGAAA	0.542000													16	51					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874708	39874708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:39874708G>A	ENST00000308559.7	-	10	1421	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373195.3_Nonsense_Mutation_p.Q343*|MOCS1_ENST00000425303.2_Nonsense_Mutation_p.Q446*|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000340692.5_Nonsense_Mutation_p.Q446*			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	446	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TAGTGTCTCTGAAAGGAGCCA	0.592000													27	42					0	0	1	0	0
C12orf57	113246	broad.mit.edu	37	12	7053317	7053317	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:7053317G>A	ENST00000544681.1	+	1	338	c.33G>A	c.(31-33)ttG>ttA	p.L11L	C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000229281.5_Silent_p.L11L|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000540506.2_5'UTR|C12orf57_ENST00000537087.1_Silent_p.L11L			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	11										kidney(1)|large_intestine(1)	2						CGGCGGCCTTGAGCGCTGAGC	0.592000											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	93					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122850025	122850025	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:122850025G>C	ENST00000343035.2	-	2	451	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	135										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGCGTGGACAGGTAGCGCTGG	0.662000													23	61					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43659363	43659363	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:43659363G>A	ENST00000264663.5	+	17	2766	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	NNT_ENST00000512996.2_Missense_Mutation_p.E718K|NNT_ENST00000344920.4_Missense_Mutation_p.E849K	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	849					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CCTGTGTGCAGAGGGCTTCCT	0.522000													5	55					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66231719	66231719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:66231719G>A	ENST00000273854.3	-	11	2581	c.1981C>T	c.(1981-1983)Caa>Taa	p.Q661*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.Q639*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.Q662*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.Q498*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	661					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGACAGCTTGATTGGGATCC	0.368000										TSP Lung(17;0.13)			8	42					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033494	103033494	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:103033494G>A	ENST00000306312.3	-	10	1252	c.991C>T	c.(991-993)Ccg>Tcg	p.P331S	SLC26A5_ENST00000393735.2_Missense_Mutation_p.P331S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P331S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P331S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P331S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P294S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P331S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P331S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	331					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTGGTGTCCGGATTGGCTGGA	0.473000													20	47					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263094	51263094	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:51263094G>A	ENST00000266037.9	+	15	1290	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	423	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TATCCGCAATGACCTGTACCT	0.458000													26	63					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	152870472	152870472	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:152870472C>T	ENST00000285900.5	+	1	367	c.24C>T	c.(22-24)ttC>ttT	p.F8F	GRIA1_ENST00000340592.5_Silent_p.F8F|GRIA1_ENST00000518142.1_Silent_p.F8F|GRIA1_ENST00000518862.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	8					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGCCTTCTTCTGCACCGGTT	0.507000													87	201					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54483145	54483145	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:54483145T>G	ENST00000270458.2	+	3	495	c.392T>G	c.(391-393)tTc>tGc	p.F131C		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	131					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TCCAGCATCTTCCCCATCCTT	0.667000													12	22					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9834085	9834085	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:9834085G>A	ENST00000256190.8	-	30	4286	c.4149C>T	c.(4147-4149)ttC>ttT	p.F1383F		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1383	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTACCTGTGGGAACCACTCAG	0.418000													20	112					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73171713	73171713	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:73171713G>T	ENST00000286657.4	-	16	2287	c.2251C>A	c.(2251-2253)Cat>Aat	p.H751N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	751	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGAATATGAGGAGAAGCC	0.368000													13	74					9.31168e-06	9.55354e-06	1	1	0
H2AFJ	55766	broad.mit.edu	37	12	14927532	14927532	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:14927532G>A	ENST00000544848.1	+	1	263	c.128G>A	c.(127-129)cGa>cAa	p.R43Q		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	43					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TACGCGGAGCGAGTGGGCGCC	0.672000													15	45					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	336602	336602	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:336602C>G	ENST00000432829.2	+	12	1418	c.1102C>G	c.(1102-1104)Cgg>Ggg	p.R368G	DOCK8_ENST00000469391.1_Missense_Mutation_p.R368G|DOCK8_ENST00000453981.1_Missense_Mutation_p.R436G	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	436	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGGGTGAACGGAGGACATT	0.438000													8	37					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140865958	140865958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:140865958G>A	ENST00000371372.1	+	11	1602	c.1457G>A	c.(1456-1458)tGg>tAg	p.W486*	CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.W486*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.W486*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.W487*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.W487*|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	486					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCTTCTACTGGGTGGTGCTG	0.572000													3	13					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152287031	152287031	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:152287031C>T	ENST00000368799.1	-	3	366	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	111					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTATTATCTTCATGTTTATCA	0.373000									Ichthyosis				30	78					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4872089	4872089	+	Missense_Mutation	SNP	C	C	T	rs147897431	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:4872089C>T	ENST00000361571.5	-	22	3979	c.3568G>A	c.(3568-3570)Gag>Aag	p.E1190K	CAMTA2_ENST00000358183.4_Missense_Mutation_p.E1184K|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E1186K|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G1213E|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E1196K|CAMTA2_ENST00000348066.3_Missense_Mutation_p.E1191K|RP5-1050D4.3_ENST00000576752.1_RNA	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1191					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCTTCCAGCTCCTGGTTCTGC	0.622000													17	32					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159640784	159640784	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:159640784G>A	ENST00000393980.4	+	3	239	c.93G>A	c.(91-93)cgG>cgA	p.R31R	FABP6_ENST00000393982.1_Silent_p.R31R	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGTGAGCCGGAAAGGAGACC	0.483000													11	21					0	0	1	0	0
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:46733686G>A	ENST00000437936.1	+	3	258	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	79						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572000													33	140					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47040801	47040801	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:47040801G>T	ENST00000377604.3	+	13	2177		c.e13+1		RBM10_ENST00000478410.1_Splice_Site|RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTGGAGCAGGTGAGCCCCAG	0.607000													5	0					8.12818e-05	8.30336e-05	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4609033	4609033	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:4609033C>T	ENST00000312614.4	+	1	1013	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAACAACTGCGGGAGAGAAT	0.468000													15	103					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43180480	43180480	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:43180480C>T	ENST00000592782.1	+	10	1286	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_ENST00000258960.2_Silent_p.F385F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	385					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577000													12	47					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827057	79827057	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79827057C>T	ENST00000269321.7	-	5	542	c.407G>A	c.(406-408)gGc>gAc	p.G136D	ARHGDIA_ENST00000400721.4_Missense_Mutation_p.G136D|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.G136D|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.G136D|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.G136D	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	136					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTCTTGACGCCTTTCCTGTA	0.657000													5	29					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71807214	71807214	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:71807214G>A	ENST00000299980.4	-	4	819	c.378C>T	c.(376-378)ctC>ctT	p.L126L	AP1G1_ENST00000433195.2_Silent_p.L149L|AP1G1_ENST00000423132.2_Silent_p.L126L|AP1G1_ENST00000569748.1_Silent_p.L126L|AP1G1_ENST00000393512.3_Silent_p.L126L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	126					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCATGCAGCCGAGGGTACAAA	0.458000													9	51					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48229168	48229168	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:48229168C>T	ENST00000263277.3	+	4	853	c.602C>T	c.(601-603)tCa>tTa	p.S201L	EHD2_ENST00000538399.1_Missense_Mutation_p.S65L|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	201					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GACGAGTTCTCAGAGGCCATC	0.637000													10	23					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413182	178413182	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:178413182G>A	ENST00000231188.5	-	8	2251	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	GRM6_ENST00000517717.1_Silent_p.F691F|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	691					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGGGCTGATGAAGGGAGGGG	0.647000													4	13					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945705	16945705	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:16945705G>A	ENST00000412962.1	-	0	1814																											TTAGAGGCCTGAGTGTGCCAC	0.607000													12	126					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849193	73849193	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:73849193C>G	ENST00000523207.1	+	3	2191	c.1603C>G	c.(1603-1605)Ctg>Gtg	p.L535V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	535					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)			CCCACAGCATCTGAGTGCCCA	0.493000													10	122					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													4	44					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713864	150713864	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:150713864G>A	ENST00000377974.2	-	11	2407	c.2332C>T	c.(2332-2334)Ccg>Tcg	p.P778S	ATG9B_ENST00000605938.1_Silent_p.L778L|ATG9B_ENST00000444312.1_Missense_Mutation_p.P264S|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	779					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATCTCTCGGAGGCAGGAGA	0.617000													12	31					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237024569	237024569	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:237024569C>T	ENST00000366577.5	+	20	2582	c.2188C>T	c.(2188-2190)Cta>Tta	p.L730L	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	730	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAAAATGTTTCTACCTCAGGT	0.338000													31	74					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543726.1_Silent_p.L241L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	157					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508330	106508330	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:106508330G>A	ENST00000359195.3	+	2	634	c.324G>A	c.(322-324)gaG>gaA	p.E108E	PIK3CG_ENST00000496166.1_Silent_p.E108E|PIK3CG_ENST00000440650.2_Silent_p.E108E	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	108					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						AGTGGTACGAGATCTACGACA	0.647000													8	15					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31602500	31602500	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:31602500C>T	ENST00000399332.1	-	24	4354	c.3866G>A	c.(3865-3867)cGa>cAa	p.R1289Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1289Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1289	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATCCTGATCTCGCCATTTCCA	0.488000													3	35					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48188773	48188773	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:48188773C>T	ENST00000418331.2	+	25	4225	c.3873C>T	c.(3871-3873)ctC>ctT	p.L1291L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1291	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGTTTTCCTCAATCAGTGTG	0.378000													18	55					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130912763	130912763	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:130912763G>A	ENST00000409031.1	-	15	2624	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	SMPD4_ENST00000452225.2_Silent_p.L233L|SMPD4_ENST00000431183.2_Silent_p.L390L|SMPD4_ENST00000443958.2_Silent_p.L156L|SMPD4_ENST00000351288.6_Silent_p.L463L|SMPD4_ENST00000453750.1_Silent_p.L241L|SMPD4_ENST00000426662.2_Silent_p.L128L|SMPD4_ENST00000339679.7_Silent_p.L350L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	453					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	p.L492L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTCTGTGCGGAGCGCGCGGT	0.592000													22	36					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595072	64595072	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:64595072G>A	ENST00000342711.5	-	32	4076	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1359	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTCTGGATTGAGGGGCCGCA	0.677000													12	17					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643268	3643268	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:3643268G>A	ENST00000335312.3	-	13	1710	c.1622C>T	c.(1621-1623)tCg>tTg	p.S541L	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S541L|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S541L|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S541L	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	541					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CGACGTCTCCGAGGGGGACCG	0.647000													17	54					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950434	110950434	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:110950434G>A	ENST00000256644.4	-	1	130	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		AGAGCCTGACGAAGGCTTGGG	0.617000													9	24					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607833	46607833	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:46607833C>A	ENST00000239174.6	-	1	526	c.434G>T	c.(433-435)gGg>gTg	p.G145V	HOXB1_ENST00000577092.1_Missense_Mutation_p.G145V	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	145						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTCGTTCCCATAAGGGGG	0.647000													7	51					2.7689e-08	2.86146e-08	1	1	0
ARID2	196528	broad.mit.edu	37	12	46243450	46243450	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:46243450G>A	ENST00000334344.6	+	14	1975	c.1803G>A	c.(1801-1803)cgG>cgA	p.R601R	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.R452R|ARID2_ENST00000444670.1_Silent_p.R211R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	601					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGTAAAACGGAGGGCTATAC	0.438000			"""N, S, F"""		hepatocellular carcinoma								42	136					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187677	152187677	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:152187677G>A	ENST00000368801.2	-	3	6503	c.6428C>T	c.(6427-6429)tCa>tTa	p.S2143L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2143					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCCTAGATGACTGTCCTGA	0.587000													49	1413					0	0	1	0	0
EVA1A	84141	broad.mit.edu	37	2	75720593	75720593	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:75720593C>T	ENST00000233712.1	-	4	665	c.228G>A	c.(226-228)gaG>gaA	p.E76E	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410010.1_Silent_p.E64E|EVA1A_ENST00000410071.1_Silent_p.E76E|EVA1A_ENST00000410113.1_Silent_p.E76E|EVA1A_ENST00000393913.3_Silent_p.E76E	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		CGCTGCTGCTCTCTCTGTCCT	0.612000													22	29					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845022	123845022	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:123845022G>A	ENST00000369005.1	+	4	3347	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E1003K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1003K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1003K|TACC2_ENST00000515603.1_Missense_Mutation_p.E1003K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1003						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCTTGGAAGAAGGCAGCCA	0.517000													15	35					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495184	161495184	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:161495184G>A	ENST00000309758.4	+	1	1149	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	246					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)			CTTCATGGAAGAATTCCGGCG	0.612000													8	8					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129112124	129112124	+	RNA	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:129112124C>T	ENST00000514355.1	-	0	689																				lung(1)	1						TGTGCTTCCTCAGGATTTCTT	0.493000													13	58					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43819159	43819159	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:43819159G>A	ENST00000403856.1	-	4	250	c.103C>T	c.(103-105)Cta>Tta	p.L35L	THADA_ENST00000405975.2_Silent_p.L35L|THADA_ENST00000404790.1_Silent_p.L35L|THADA_ENST00000405006.4_Silent_p.L35L|THADA_ENST00000402360.2_Silent_p.L35L|THADA_ENST00000415080.2_5'UTR			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	35							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)				AAAGAAGCTAGATTTTTCCCT	0.333000													3	5					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35075582	35075582	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:35075582G>A	ENST00000378643.3	-	10	1804	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	438					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTTTTCTGGCATCTTCCCA	0.572000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					4	123					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79985566	79985566	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79985566G>T	ENST00000306688.3	+	8	1192	c.850G>T	c.(850-852)Gta>Tta	p.V284L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	284						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCAGCCCGTGTAGGGCAGCT	0.607000													4	18					0.00909568	0.00917309	1	1	0
UBAP2	55833	broad.mit.edu	37	9	33996301	33996301	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:33996301C>T	ENST00000379238.1	-	4	325	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.E70K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E70K|UBAP2_ENST00000449054.1_Missense_Mutation_p.E70K|UBAP2_ENST00000379239.4_5'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	70	UBA.									endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTATGCATTCATCCTGATTT	0.343000													20	84					0	0	1	0	0
ARL4C	10123	broad.mit.edu	37	2	235404723	235404723	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:235404723C>T	ENST00000390645.2	-	1	974	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ARL4C_ENST00000339728.3_Missense_Mutation_p.E170K	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	170					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TCCATGCCCTCGGTGAGGCCC	0.622000													12	33					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849293	73849293	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:73849293C>T	ENST00000523207.1	+	3	2291	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	568					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)			GAGAGGCCATCTGCATATGAA	0.507000													9	90					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54348978	54348978	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:54348978G>A	ENST00000243103.3	+	1	361	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	89					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						GGCGCGCGTGGAGGACGGCAA	0.756000													4	5					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45220456	45220456	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:45220456C>T	ENST00000372217.1	+	7	887	c.536C>T	c.(535-537)gCc>gTc	p.A179V	KIF2C_ENST00000372222.3_Missense_Mutation_p.A120V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A192V|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372224.4_Missense_Mutation_p.A233V			Q99661	KIF2C_HUMAN	kinesin family member 2C	233	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGGGAATTTGCCCGAATGATT	0.408000													4	148					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79614022	79614022	+	Silent	SNP	T	T	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:79614022T>G	ENST00000372391.2	-	4	648	c.643A>C	c.(643-645)Agg>Cgg	p.R215R	DLG5_ENST00000372388.2_Silent_p.R215R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	215					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTCACACCTCTTCAAGGCG	0.582000													7	46					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70475553	70475553	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:70475553C>T	ENST00000433529.2	-	1	220	c.10G>A	c.(10-12)Gag>Aag	p.E4K	C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000445587.1_Missense_Mutation_p.E4K|TIA1_ENST00000416149.2_Missense_Mutation_p.E4K|TIA1_ENST00000282574.4_Missense_Mutation_p.E4K|TIA1_ENST00000415783.2_Missense_Mutation_p.E4K	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	4					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTGGGCATCTCGTCCTCCATG	0.637000													9	14					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869408	147869408	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:147869408G>A	ENST00000361727.3	+	18	3364	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E9K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	950	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTTGACCTGGAGGAAAGAGC	0.547000										HNSCC(39;0.1)			14	41					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849399	73849399	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:73849399C>T	ENST00000523207.1	+	3	2397	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	603					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)			CCTCCAGCATCGACAGCTTCA	0.572000													17	103					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903329	32903329	+	Silent	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:32903329C>A	ENST00000418107.2	-	4	985	c.723G>T	c.(721-723)cgG>cgT	p.R241R		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	241					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	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCAGCTCTCCGCCAGCTGA	0.547000													14	60					3.27435e-08	3.37401e-08	1	1	0
IL36G	56300	broad.mit.edu	37	2	113742533	113742533	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:113742533C>T	ENST00000259205.4	+	5	486	c.417C>T	c.(415-417)ttC>ttT	p.F139F	IL36G_ENST00000376489.2_Silent_p.F104F	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	139					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CGGACTGGTTCATTGCCTCCT	0.498000													11	84					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459869	82459869	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:82459869C>T	ENST00000369754.3	-	3	1241	c.929G>A	c.(928-930)gGa>gAa	p.G310E	FAM46A_ENST00000320172.6_Missense_Mutation_p.G291E|FAM46A_ENST00000369756.3_Missense_Mutation_p.G372E			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	291										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		AAGCAGGCCTCCCCCTCGGAT	0.493000													26	35					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8775572	8775572	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:8775572G>A	ENST00000343849.2	+	1	87	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CAV3_ENST00000472766.1_3'UTR|SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.E4K	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	4					cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GATGATGGCAGAAGAGCACAC	0.547000													10	37					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334735	21334735	+	Nonsense_Mutation	SNP	G	G	A	rs142876366	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:21334735G>A	ENST00000359039.4	-	1	644	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	42					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTCTAAGCTGATCAAAGCCT	0.478000													22	60					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623700	2623700	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:2623700C>T	ENST00000296847.3	-	3	880	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	119										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAATCTCCCTCTGACGGAAGA	0.498000													8	39					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148015	67148015	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:67148015C>T	ENST00000371037.4	+	15	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_ENST00000237247.6_Silent_p.P430P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	426	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCGTCCCCCGGACCTGGCT	0.562000													48	101					0	0	1	0	0
MAK16	84549	broad.mit.edu	37	8	33354170	33354170	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:33354170C>T	ENST00000360128.6	+	8	1007	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	184						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CTTCCCCATTCATGCCTTCGA	0.413000													7	26					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105481785	105481785	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:105481785G>A	ENST00000393127.2	+	2	507	c.61G>A	c.(61-63)Gga>Aga	p.G21R	GRIA4_ENST00000530497.1_Missense_Mutation_p.G21R|GRIA4_ENST00000428631.2_Missense_Mutation_p.G21R|GRIA4_ENST00000393125.2_Missense_Mutation_p.G21R|GRIA4_ENST00000282499.5_Missense_Mutation_p.G21R|GRIA4_ENST00000527669.1_Missense_Mutation_p.G21R|GRIA4_ENST00000525187.1_Missense_Mutation_p.G21R	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	21					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)	ACTCGCCATGGGAGCCTTTCC	0.493000													4	27					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239170926	239170926	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:239170926C>T	ENST00000254657.3	-	11	1492	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	PER2_ENST00000254658.3_Missense_Mutation_p.R369Q|PER2_ENST00000440245.1_Missense_Mutation_p.G405R|PER2_ENST00000355768.2_Missense_Mutation_p.R369Q	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	405	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ATGTACTCTCCGTTCCGGGCG	0.547000													11	34					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27276594	27276594	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:27276594G>A	ENST00000320567.5	-	4	1251	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	388										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCCCGACGAGTCTGTGTC	0.602000													12	65					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543217	48543217	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:48543217G>A	ENST00000317697.3	-	4	968	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	ASB8_ENST00000536549.1_Missense_Mutation_p.L267F|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	267	SOCS box.				intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GCATCGGGGAGATACTGGAGT	0.522000													18	49					0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2034787	2034787	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:2034787G>A	ENST00000248114.6	+	2	304	c.298G>A	c.(298-300)Gag>Aag	p.E100K	GFER_ENST00000567719.1_Missense_Mutation_p.E25K|GFER_ENST00000569451.1_Intron	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	100	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GCCGGATCGCGAGGAACTGGG	0.642000													11	48					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42252606	42252606	+	Missense_Mutation	SNP	G	G	A	rs148727335	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:42252606G>A	ENST00000373030.3	+	10	974	c.844G>A	c.(844-846)Gag>Aag	p.E282K	IFT52_ENST00000373039.4_Missense_Mutation_p.E282K	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	282						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAGTGATGAGATCCCAAG	0.527000													39	129					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980206	75980206	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:75980206C>T	ENST00000308508.5	-	3	3292	c.3200G>A	c.(3199-3201)aGt>aAt	p.S1067N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1067	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (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						GGCCACGATACTGCCAAAGAG	0.627000													8	56					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64059288	64059288	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:64059288C>T	ENST00000371084.3	+	1	342	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	43					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCCAGAGTATCATCTCCACCG	0.657000													3	9					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73449026	73449026	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:73449026A>G	ENST00000389501.4	+	6	655	c.610A>G	c.(610-612)Att>Gtt	p.I204V	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	204							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAGGAGGAAATTGTCCATAA	0.463000													3	60					0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58324669	58324669	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:58324669G>A	ENST00000391701.1	-	2	322	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TACCCAGGGAGGACATAAGTG	0.512000													22	62					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190304	72190304	+	Missense_Mutation	SNP	C	C	T	rs141019429		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:72190304C>T	ENST00000356056.5	-	25	5012	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1495K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1514K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1514K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E1134K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1514	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGAATCTGTTCCATCATCTCT	0.403000													26	54					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100214623	100214623	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:100214623C>G	ENST00000354410.5	+	6	1051	c.422C>G	c.(421-423)tCa>tGa	p.S141*	MEF2A_ENST00000558812.1_Nonsense_Mutation_p.S71*|MEF2A_ENST00000449277.2_Nonsense_Mutation_p.S71*|MEF2A_ENST00000338042.6_Nonsense_Mutation_p.S139*|MEF2A_ENST00000453228.2_Nonsense_Mutation_p.S139*|MEF2A_ENST00000557942.1_Nonsense_Mutation_p.S139*|MEF2A_ENST00000557785.1_Nonsense_Mutation_p.S139*	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	141	Ser/Thr-rich.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAGAACTTTTCAATGTCTGTC	0.423000													33	95					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702042	1702042	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:1702042C>T	ENST00000339235.3	-	1	1289	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	FBXL14_ENST00000543278.1_Intron|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	397						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			ACCTGACCTTCTCACTGTCCG	0.632000													20	32					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	18					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128936651	128936651	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:128936651G>T	ENST00000310343.9	-	6	601	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S127Y	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	201	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGGGTGTCAGAACGGGGAAG	0.363000													9	31					2.74318e-10	2.85146e-10	1	1	0
ELOVL1	64834	broad.mit.edu	37	1	43831253	43831253	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:43831253C>T	ENST00000372458.3	-	2	145	c.28G>A	c.(28-30)Gag>Aag	p.E10K	ELOVL1_ENST00000413844.2_Missense_Mutation_p.E10K|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	10					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCATCACCTCTTGGTACAAG	0.552000													10	48					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215854152	215854152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:215854152G>A	ENST00000272895.7	-	26	3949	c.3730C>T	c.(3730-3732)Cag>Tag	p.Q1244*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Q926*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1244					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGTCATCCTGAACCGGGGAG	0.428000													20	49					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722867	94722867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:94722867C>T	ENST00000304338.3	+	17	2090	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	646						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCATCTACTTCAGCAGTTAGA	0.358000													8	34					0	0	1	0	0
C17orf82	388407	broad.mit.edu	37	17	59490064	59490064	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:59490064G>A	ENST00000335108.2	+	1	953	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	243										cervix(1)|lung(1)	2						CCGAGGGACCGAGGGACTCCG	0.746000													2	2					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569794	30569794	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30569794G>A	ENST00000376511.2	-	19	3184	c.2632C>T	c.(2632-2634)Cat>Tat	p.H878Y		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	878	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CGGTGCTCATGAGGTGGCGGC	0.682000													4	11					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782946	80782946	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:80782946G>T	ENST00000466387.1	+	16	2393	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E236*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E557*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E557*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E591*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E557*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E557*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	557					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CATCAATGCTGAGATGGAGAA	0.517000													11	71					1.08611e-07	1.11754e-07	1	1	0
GFAP	2670	broad.mit.edu	37	17	42988614	42988614	+	Missense_Mutation	SNP	C	C	T	rs58075601		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:42988614C>T	ENST00000253408.5	-	6	1182	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.E373K|GFAP_ENST00000586793.1_Missense_Mutation_p.E373K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	373	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGGTTCTCCTCGCCCTCTAGC	0.597000													19	49					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30714868	30714868	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr21:30714868C>T	ENST00000399921.1	+	5	2168	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	BACH1_ENST00000286800.3_Missense_Mutation_p.S642L	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	642						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GCCAAGTACTCAGCTGCAGAT	0.408000													32	108					0	0	1	0	0
PSMG3	84262	broad.mit.edu	37	7	1608853	1608853	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:1608853C>T	ENST00000288607.2	-	1	776	c.123G>A	c.(121-123)aaG>aaA	p.K41K	PSMG3_ENST00000404674.3_Silent_p.K41K|PSMG3_ENST00000252329.3_Silent_p.K41K	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	41										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		GGGTGCCCATCTTCCCAAACT	0.602000													14	40					0	0	1	0	0
XPA	7507	broad.mit.edu	37	9	100459567	100459567	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:100459567G>C	ENST00000375128.4	-	1	72	c.8C>G	c.(7-9)gCg>gGg	p.A3G		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	3					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCCGTCGGCCGCCGCCATCTC	0.736000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	17					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560724	59560724	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:59560724C>T	ENST00000393853.4	+	9	1651	c.1488C>T	c.(1486-1488)cgC>cgT	p.R496R	TBX4_ENST00000240335.1_Silent_p.R495R|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	495					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAAGAGAGCGCGGCCTCCCCC	0.572000													3	46					0	0	1	0	0
DCXR	51181	broad.mit.edu	37	17	79994632	79994632	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79994632C>T	ENST00000306869.2	-	4	362	c.313G>A	c.(313-315)Gag>Aag	p.E105K	DCXR_ENST00000584318.1_5'UTR	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	105					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity			kidney(1)|lung(3)	4	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;0.0191)			AGGTTCACCTCAAAGGATCTA	0.632000													10	30					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805318	106805318	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:106805318G>A	ENST00000438142.2	-	0	316																											CTTGAGGGACGGGTTGTAGTA	0.547000													42	129					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34046400	34046400	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:34046400G>A	ENST00000373381.4	-	48	7516	c.7340C>T	c.(7339-7341)tCa>tTa	p.S2447L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2449	CUB 14.					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)				GTGATCAGATGACCAACGCAG	0.512000													10	41					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731931	227731931	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:227731931A>G	ENST00000392062.2	+	5	987	c.463A>G	c.(463-465)Aac>Gac	p.N155D	RHBDD1_ENST00000341329.3_Missense_Mutation_p.N155D	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	155						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AGTTCTTAACAACCATTATTG	0.368000													24	87					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90794785	90794785	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:90794785G>A	ENST00000561573.1	+	3	521		c.e3-1		TTLL13_ENST00000339615.5_Splice_Site|TTLL13_ENST00000438251.1_Splice_Site																							CTCCATTCCAGATCACTGGCC	0.478000													50	125					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57542935	57542935	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:57542935T>A	ENST00000311180.8	+	1	932	c.829T>A	c.(829-831)Tgc>Agc	p.C277S	PDE12_ENST00000487257.1_Missense_Mutation_p.C277S	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	277							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCCTGGCACCTGCACTTTTGA	0.587000													12	65					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824223	3824223	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:3824223A>G	ENST00000497571.1	-	2	546	c.286T>C	c.(286-288)Tgt>Cgt	p.C96R	KLF6_ENST00000542957.1_Missense_Mutation_p.C96R|KLF6_ENST00000469435.1_Missense_Mutation_p.C96R|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	96					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTTGTAACAAAAGCTCGGG	0.507000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	193					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	125					0	0	1	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077285	45077285	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:45077285G>A	ENST00000296130.4	+	3	658	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CLEC3B_ENST00000428034.1_Missense_Mutation_p.E118K|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	160	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGGAGACTGAGATCACCGC	0.662000													18	27					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071130	102071130	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:102071130G>A	ENST00000549145.1	+	27	3185	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1023N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1016N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1023N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D972N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D998N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D998N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D985N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1016N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D984N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1016N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D986N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D1016N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D979N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D899N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1016					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.D1023H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCTCAGTGAGGATGCCACCAT	0.458000													17	42					0	0	1	0	0
C1orf216	127703	broad.mit.edu	37	1	36181255	36181255	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:36181255G>A	ENST00000270815.4	-	2	1438	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	223										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGGGCCTGGATGGTGCTGC	0.537000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	58					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214585	156214585	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:156214585C>T	ENST00000335852.1	-	6	1024	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Missense_Mutation_p.E240K|PAQR6_ENST00000292291.5_Missense_Mutation_p.E243K|PAQR6_ENST00000368270.1_Missense_Mutation_p.E219K|PAQR6_ENST00000356983.2_Missense_Mutation_p.E137K	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	243						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCAGCCTTTCAGGCAGGTGG	0.647000													9	41					0	0	1	0	0
SRA1	10011	broad.mit.edu	37	5	139931610	139931610	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:139931610C>G	ENST00000336283.6	-	3	1168	c.347G>C	c.(346-348)aGa>aCa	p.R116T	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	116					apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAAAGGTCTCAGCACATC	0.587000													16	33					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56569085	56569085	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:56569085G>A	ENST00000323456.5	-	19	3651	c.3527C>T	c.(3526-3528)tCt>tTt	p.S1176F	MTMR4_ENST00000579925.1_Missense_Mutation_p.S1119F	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1176						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGGCACGAGAGACTTGAAT	0.483000													11	27					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226420	168226420	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:168226420G>A	ENST00000359760.5	-	0	969					NR_027906.1																						GGTCGGCTTTGAAGTGACCCA	0.602000													14	54					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27909018	27909018	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:27909018C>T	ENST00000225394.3	-	5	798	c.550G>A	c.(550-552)Gag>Aag	p.E184K	GIT1_ENST00000581348.1_Missense_Mutation_p.E184K|GIT1_ENST00000579937.1_Missense_Mutation_p.E184K|GIT1_ENST00000394869.3_Missense_Mutation_p.E184K|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	184					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACAAGCAGCTCGGCCTGCAGT	0.622000													9	33					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48441490	48441490	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:48441490C>T	ENST00000324324.7	-	15	1736	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	MYEF2_ENST00000267836.6_Missense_Mutation_p.R462K	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	486	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.R486K(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGGTCCCATTCTATCAAAGCT	0.493000													16	49					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46657843	46657843	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:46657843T>A	ENST00000371992.1	-	17	2116	c.1466A>T	c.(1465-1467)gAg>gTg	p.E489V	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E467V|POMGNT1_ENST00000371986.3_Missense_Mutation_p.E489V|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.E489V	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	489					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GATGATGCACTCTCGGCCCCG	0.562000													5	53					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87693965	87693965	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:87693965G>A	ENST00000436978.1	+	32	5698	c.5218G>A	c.(5218-5220)Ggg>Agg	p.G1740R	PTPN13_ENST00000411767.2_Missense_Mutation_p.G1735R|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1544R|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1740R|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1716R	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1735						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TATGGCTCCTGGGCAGAGTTA	0.393000													22	59					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	by1000genomes	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657000													3	44					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940685	21940685	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:21940685G>A	ENST00000328843.6	+	83	13416	c.13385G>A	c.(13384-13386)tGc>tAc	p.C4462Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.C4455Y|CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4462					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						GAGCTGGCATGCCCTATGCCG	0.552000									Kartagener syndrome				8	88					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9923156	9923156	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:9923156G>C	ENST00000323816.4	-	3	224	c.62C>G	c.(61-63)cCt>cGt	p.P21R	GAS7_ENST00000540214.1_Missense_Mutation_p.P17R|GAS7_ENST00000437099.2_Missense_Mutation_p.P17R|GAS7_ENST00000432992.2_Missense_Mutation_p.P81R|GAS7_ENST00000585266.1_Missense_Mutation_p.P21R|GAS7_ENST00000542249.1_Missense_Mutation_p.P17R|GAS7_ENST00000579158.1_Missense_Mutation_p.P17R|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000396115.2_Missense_Mutation_p.P17R			O60861	GAS7_HUMAN	growth arrest-specific 7	85	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTGCCAGCCAGGTGGAAGGAT	0.587000			T	MLL	AML*								4	34					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116062168	116062168	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:116062168C>T	ENST00000369271.3	-	12	1660	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E454K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E507K	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	454					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TAGGTGAACTCTTCTGGGTCT	0.532000													26	109					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569834	30569834	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30569834G>A	ENST00000376511.2	-	19	3144	c.2592C>T	c.(2590-2592)gtC>gtT	p.V864V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	864	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGTGACCAGGGACATCATGAG	0.687000													4	22					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46283178	46283178	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:46283178G>A	ENST00000600757.1	-	1	827	c.140C>T	c.(139-141)tCc>tTc	p.S47F	DMPK_ENST00000447742.2_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_Missense_Mutation_p.S47F|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000291270.4_Intron			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	47					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AAGGGCACTGGAGACAAGGGG	0.612000													7	13					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708083	146708083	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:146708083G>A	ENST00000392299.2	+	7	2130	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	GRM1_ENST00000492807.2_Missense_Mutation_p.E554K|GRM1_ENST00000361719.2_Missense_Mutation_p.E554K|GRM1_ENST00000355289.4_Missense_Mutation_p.E554K|GRM1_ENST00000282753.1_Missense_Mutation_p.E554K|GRM1_ENST00000507907.1_Missense_Mutation_p.E554K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGAATGAATATGTGCA	0.433000													12	65					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47890249	47890249	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:47890249C>T	ENST00000446256.2	+	18	3166	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F	DHX30_ENST00000457607.1_Missense_Mutation_p.S932F|DHX30_ENST00000348968.4_Missense_Mutation_p.S876F|DHX30_ENST00000445061.1_Missense_Mutation_p.S904F	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	904						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGTCGTTTCCTGCCTCACC	0.642000													9	46					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41046881	41046881	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:41046881C>T	ENST00000260385.6	-	1	1168	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	RMDN3_ENST00000338376.3_Missense_Mutation_p.R34Q					regulator of microtubule dynamics 3																		CCGTTTCCATCGCTGGCTGTA	0.647000													7	15					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95110966	95110966	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:95110966G>A	ENST00000371501.4	-	35	4031	c.3909C>T	c.(3907-3909)ctC>ctT	p.L1303L	MYOF_ENST00000371502.4_Silent_p.L1303L|MYOF_ENST00000358334.5_Silent_p.L1290L|MYOF_ENST00000359263.4_Silent_p.L1303L			Q9NZM1	MYOF_HUMAN	myoferlin	1303					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAATGGCAGTGAGCTGGACCA	0.502000													4	25					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67665746	67665746	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:67665746G>A	ENST00000335894.4	+	10	1413	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	IQCH_ENST00000360277.4_Silent_p.R201R|IQCH_ENST00000358767.3_Silent_p.R276R|IQCH_ENST00000546225.1_Silent_p.R197R	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	449										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCTCCAGGAGGACTATTATCC	0.428000													5	41					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145730191	145730191	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:145730191G>A	ENST00000394955.2	+	3	513	c.290G>A	c.(289-291)aGc>aAc	p.S97N	GPT_ENST00000528431.1_Missense_Mutation_p.S97N	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	97					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCTGAGCAGCCCCAACTTC	0.647000													66	214					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923863	56923863	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:56923863C>T	ENST00000559237.1	-	21	3417	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E925K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCAAGTACCTCGGATGGAGTC	0.418000													20	105					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575933	49575933	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:49575933C>G	ENST00000244051.1	+	1	571	c.554C>G	c.(553-555)aCt>aGt	p.T185S		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	185					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AACGTGCCCACTCGCTACCTG	0.602000													9	92					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134072738	134072738	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:134072738G>A	ENST00000359428.5	+	29	4001	c.3857G>A	c.(3856-3858)gGa>gAa	p.G1286E	NUP214_ENST00000451030.1_Missense_Mutation_p.G1287E|NUP214_ENST00000483497.2_Missense_Mutation_p.G112E|NUP214_ENST00000411637.2_Missense_Mutation_p.G1276E|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1286	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACCACCCCAGGAGAACCTGCC	0.552000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								20	51					0	0	1	0	0
FAM104A	84923	broad.mit.edu	37	17	71228427	71228427	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:71228427C>T	ENST00000405159.3	-	1	83	c.19G>A	c.(19-21)Gac>Aac	p.D7N	FAM104A_ENST00000403627.3_Missense_Mutation_p.D7N|FAM104A_ENST00000583024.1_Missense_Mutation_p.D7N|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000581110.1_Missense_Mutation_p.D7N|FAM104A_ENST00000583178.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	7										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCCGGCGTCTGCTCCGCGC	0.731000													24	33					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190373	72190373	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:72190373C>T	ENST00000356056.5	-	25	4943	c.4471G>A	c.(4471-4473)Gaa>Aaa	p.E1491K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1472K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1491K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1491K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E1111K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1491	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTAGCTTTTCTAACTTCTTA	0.378000													22	63					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110737	55110737	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:55110737A>C	ENST00000505374.1	+	20	1816	c.1724A>C	c.(1723-1725)gAa>gCa	p.E575A	DDX4_ENST00000511853.1_Missense_Mutation_p.E426A|DDX4_ENST00000353507.5_Missense_Mutation_p.E541A|DDX4_ENST00000514278.2_Missense_Mutation_p.E555A|DDX4_ENST00000354991.5_Missense_Mutation_p.E541A	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	575	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTGATCGGGAACAGAGAGAG	0.368000													14	70					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149398966	149398966	+	RNA	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:149398966C>T	ENST00000609879.1	-	0	610				HIST2H2BB_ENST00000609585.1_RNA																							GCGATGCGCTCGAAGATGTCG	0.637000													28	102					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33289645	33289645	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:33289645G>A	ENST00000269195.5	+	11	1694	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	GALNT1_ENST00000537549.1_Missense_Mutation_p.D471N	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	531	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CACAGAAGAGGATAGCCAGGT	0.433000													9	57					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128509835	128509835	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:128509835G>A	ENST00000373487.4	+	1	183	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PBX3_ENST00000342287.5_Missense_Mutation_p.E35K|PBX3_ENST00000373489.5_Missense_Mutation_p.E35K|PBX3_ENST00000373483.2_5'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	35					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.E35K(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						GCACGGCCACGAAGGGGCGGA	0.662000													5	5					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78201322	78201322	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:78201322G>A	ENST00000261531.7	-	8	804	c.742C>T	c.(742-744)Cct>Tct	p.P248S	SNW1_ENST00000554775.1_Missense_Mutation_p.P86S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P248S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	248	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATACAAGGAGGAATCTTCCAC	0.333000													24	123					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67469922	67469922	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:67469922C>T	ENST00000326152.5	+	3	673	c.541C>T	c.(541-543)Cca>Tca	p.P181S	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	181					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGAGCTGTCTCCAGTGGCCAC	0.612000													15	29					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703721	55703721	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:55703721C>T	ENST00000301532.3	-	1	155	c.156G>A	c.(154-156)agG>agA	p.R52R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAGGATCAATCCTGATCAACA	0.408000													7	42					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162722893	162722893	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:162722893C>T	ENST00000367922.3	+	5	529	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	DDR2_ENST00000367921.3_Missense_Mutation_p.R31C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2		F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGCTATATGCCGCTATCCTCT	0.453000													13	33					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17205839	17205839	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr21:17205839G>A	ENST00000285681.2	+	17	2535	c.2166G>A	c.(2164-2166)ttG>ttA	p.L722L	USP25_ENST00000400183.2_Silent_p.L722L|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Silent_p.L722L	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	722					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTCAGAAATTGAGAGAGTCAG	0.333000													10	63					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139217264	139217264	+	Missense_Mutation	SNP	C	C	T	rs150692464		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:139217264C>T	ENST00000274710.3	+	12	1925	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	574	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCATTCGCGTGCATCA	0.582000													20	44					0	0	1	0	0
CXCL6	6372	broad.mit.edu	37	4	74702932	74702932	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:74702932G>A	ENST00000226317.5	+	3	509	c.255G>A	c.(253-255)aaG>aaA	p.K85K	CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Silent_p.K85K	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	85					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCTCCCTGAAGAACGGGAAGC	0.478000													11	60					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88039979	88039979	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:88039979C>T	ENST00000319595.4	+	1	134	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	27					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)	ATTCTGGTGTCCCTCACTCTG	0.408000													29	106					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13940453	13940453	+	Silent	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:13940453A>G	ENST00000343495.5	-	12	1806	c.1068T>C	c.(1066-1068)cgT>cgC	p.R356R	ETV1_ENST00000405218.2_Silent_p.R374R|ETV1_ENST00000403527.1_Silent_p.R334R|ETV1_ENST00000242066.5_Silent_p.R356R|ETV1_ENST00000420159.2_Silent_p.R316R|ETV1_ENST00000430479.1_Silent_p.R374R|ETV1_ENST00000405358.4_Silent_p.R388R|ETV1_ENST00000403685.1_Silent_p.R356R|ETV1_ENST00000399357.3_Silent_p.R271R|ETV1_ENST00000405192.2_Silent_p.R351R			P50549	ETV1_HUMAN	ets variant 1	374					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAATGCCCCAACGTCGGGCCA	0.378000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								5	8					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144894477	144894477	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:144894477C>T	ENST00000356994.2	-	9	871	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SCRIB_ENST00000320476.3_Missense_Mutation_p.E289K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E208K	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	289	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGAGGTTCTCACAGTCCCCG	0.602000													12	54					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23521727	23521727	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:23521727C>T	ENST00000397359.3	-	8	1577	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	CDH24_ENST00000487137.2_Missense_Mutation_p.E440K|CDH24_ENST00000267383.5_Missense_Mutation_p.E440K|CDH24_ENST00000554034.1_Missense_Mutation_p.E440K	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	440	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCGCGAGCCTCGCGATCCAGG	0.642000													11	47					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478046	79478046	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79478046C>T	ENST00000575842.1	-	4	1317	c.891G>A	c.(889-891)acG>acA	p.T297T	ACTG1_ENST00000331925.2_Silent_p.T297T|ACTG1_ENST00000573283.1_Silent_p.T297T|ACTG1_ENST00000575087.1_Silent_p.T297T			P63261	ACTG_HUMAN	actin, gamma 1	297					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGACAGCACCGTGTTGGCGT	0.582000													17	80					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116130661	116130661	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:116130661C>T	ENST00000374183.4	+	5	719	c.680C>T	c.(679-681)tCa>tTa	p.S227L	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	227	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGGTCTCTCTCAGGTTAGGAG	0.537000													8	61					0	0	1	0	0
NIP7	51388	broad.mit.edu	37	16	69373925	69373925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:69373925C>T	ENST00000254940.5	+	2	473	c.73C>T	c.(73-75)Caa>Taa	p.Q25*	NIP7_ENST00000569637.2_Nonsense_Mutation_p.Q25*|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Nonsense_Mutation_p.Q25*|RP11-343C2.7_ENST00000564737.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	25					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGAGAATCTTCAACTGCTGGT	0.642000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	56					0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11884522	11884522	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:11884522G>A	ENST00000588072.1	-	11	2334	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	MPPE1_ENST00000317235.7_Silent_p.L308L|MPPE1_ENST00000344987.7_Silent_p.L349L|MPPE1_ENST00000592755.1_5'UTR|MPPE1_ENST00000309976.9_Silent_p.L308L|GNAL_ENST00000334049.6_3'UTR	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	371					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GAGTGAGTGTGAGGACCACAA	0.498000													12	59					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458294	248458294	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:248458294G>T	ENST00000317996.1	-	1	586	c.587C>A	c.(586-588)gCc>gAc	p.A196D		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GATGTACATGGCGTTTTCGAA	0.532000													10	58					2.80697e-09	2.90927e-09	1	1	0
PMPCB	9512	broad.mit.edu	37	7	102939128	102939128	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:102939128G>A	ENST00000249269.4	+	2	251	c.213G>A	c.(211-213)tcG>tcA	p.S71S	PMPCB_ENST00000428154.1_Silent_p.S71S|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	71					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGTAGCTTCGGAAGACTCTG	0.418000													16	44					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104447996	104447996	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:104447996C>A	ENST00000297579.5	+	8	1661	c.1384C>A	c.(1384-1386)Cct>Act	p.P462T	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	310					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCGAATCTTTCCTGTAGACAA	0.413000													56	51					1.19403e-26	1.25031e-26	1	1	0
PLS1	5357	broad.mit.edu	37	3	142413339	142413339	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:142413339G>A	ENST00000337777.3	+	11	1419	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	PLS1_ENST00000457734.2_Silent_p.R402R|PLS1_ENST00000497002.1_Silent_p.R402R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	402	Actin-binding 2.|CH 3.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAACATTTCGGAACTGGATGA	0.393000													14	35					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39955531	39955531	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:39955531G>A	ENST00000599117.1	+	12	1085	c.718G>A	c.(718-720)Gag>Aag	p.E240K	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E240K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E240K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E236K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E236K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	240	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGGCCATTGAGGGGGTGGG	0.582000													15	69					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55073615	55073615	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:55073615G>A	ENST00000371316.3	+	15	1585	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.G501G	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	501	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTTCACTCAGGGACCCCTATG	0.627000													20	137					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6184557	6184557	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:6184557C>T	ENST00000261405.5	-	7	1072	c.818G>A	c.(817-819)cGg>cAg	p.R273Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	273			R -> W (in VWD1 and VWD3; defect in secretion and formation of multimers).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R273Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCACAGGTCCGGGCGTACTC	0.672000													13	30					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865737	47865737	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:47865737G>A	ENST00000396105.1	-	14	4070	c.3824C>T	c.(3823-3825)tCc>tTc	p.S1275F	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1275F|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1275							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAAGCTTTGGATACTAAGGT	0.562000													30	74					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118506132	118506132	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:118506132G>A	ENST00000361417.2	+	11	2812	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	PHLDB1_ENST00000356063.5_Missense_Mutation_p.E801K|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	801										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGAGACTGAGACAAAGCT	0.632000													42	96					0	0	1	0	0
C1orf109	54955	broad.mit.edu	37	1	38155466	38155466	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:38155466C>T	ENST00000358011.4	-	2	276	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C1orf109_ENST00000464085.1_Silent_p.Q29Q	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	29										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				GCAGGGCACTCTGCCACAGGC	0.642000													9	34					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139890	106139890	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:106139890A>T	ENST00000369704.3	+	9	1411	c.1277A>T	c.(1276-1278)gAt>gTt	p.D426V	CCDC147_ENST00000369703.1_Missense_Mutation_p.D48V|CCDC147_ENST00000312902.5_Missense_Mutation_p.D48V	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	426										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AACTACAAGGATGAGGCTCAG	0.488000													17	67					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4930098	4930098	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:4930098C>T	ENST00000396658.4	+	17	4073	c.3370C>T	c.(3370-3372)Cac>Tac	p.H1124Y	UBN1_ENST00000545171.1_Missense_Mutation_p.H1094Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H1094Y|UBN1_ENST00000262376.6_Missense_Mutation_p.H1124Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1124					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTCTCAGCTTCACGGGAAAGG	0.488000													17	62					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139767443	139767443	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:139767443C>T	ENST00000303045.6	-	21	2434	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G663E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	663	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTCTGGGTCCTGGAGCTCC	0.567000										HNSCC(7;0.00092)			16	42					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21170666	21170666	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:21170666C>T	ENST00000261383.3	-	1	96	c.97G>A	c.(97-99)Gag>Aag	p.E33K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E33K|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000233047.4_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	33	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCCTTCCTCCTCTCCTTGG	0.597000													31	68					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789976	248789976	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:248789976C>T	ENST00000330803.2	-	1	515	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			AGAAAGCCATCGAGGGAGCCC	0.527000													21	63					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24920586	24920586	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:24920586G>A	ENST00000405141.1	+	12	1579	c.868G>A	c.(868-870)Gat>Aat	p.D290N	NCOA1_ENST00000538539.1_Missense_Mutation_p.D290N|NCOA1_ENST00000406961.1_Missense_Mutation_p.D290N|NCOA1_ENST00000395856.3_Missense_Mutation_p.D290N|NCOA1_ENST00000407230.1_Missense_Mutation_p.D139N|NCOA1_ENST00000288599.5_Missense_Mutation_p.D290N|NCOA1_ENST00000348332.3_Missense_Mutation_p.D290N			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	290									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTTGGGAAGATTTAGTGAG	0.388000			T	PAX3	alveolar rhadomyosarcoma								24	35					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300023	112300023	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:112300023C>T	ENST00000492406.1	+	6	1342	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	353						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCTTTGACTTCAGGCCCTCCC	0.458000													40	96					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LPAR6_ENST00000345941.2_Silent_p.F316F|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338000													19	51					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10047804	10047804	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:10047804G>C	ENST00000380861.4	+	5	728	c.337G>C	c.(337-339)Gaa>Caa	p.E113Q	WWC3_ENST00000454666.1_Missense_Mutation_p.E113Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	113										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATGAAGCAGGAACTGCAGTA	0.428000													7	56					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003699	41003699	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:41003699G>A	ENST00000308423.2	+	1	499	c.339G>A	c.(337-339)ttG>ttA	p.L113L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	113					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGCTCACTTGGACAGGGGGA	0.677000													11	24					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315635	70315635	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:70315635G>A	ENST00000303577.5	+	1	1051	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	254					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	p.G254W(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GATGCACGGCGGGACCGGATT	0.527000													25	46					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678941	73678941	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:73678941G>C	ENST00000264448.6	+	8	5395	c.5284G>C	c.(5284-5286)Gag>Cag	p.E1762Q	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1762Q|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1720Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1762	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCACATACAGAGAAGCCTAA	0.428000													49	77					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59940679	59940679	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:59940679T>A	ENST00000265036.5	-	5	669	c.602A>T	c.(601-603)gAt>gTt	p.D201V	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.D201V|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.D174V	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	201	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAAGGAATCCAGGCCAAG	0.299000													9	61					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190082	72190082	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:72190082C>G	ENST00000356056.5	-	25	5234	c.4762G>C	c.(4762-4764)Gac>Cac	p.D1588H	MYO9A_ENST00000444904.1_Missense_Mutation_p.D1569H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D1588H|MYO9A_ENST00000564571.1_Missense_Mutation_p.D1588H|MYO9A_ENST00000566885.1_Missense_Mutation_p.D1208H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1588	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGGAACTGTCTTTTTGGGCA	0.448000													22	38					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559879	47559879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:47559879G>T	ENST00000273859.3	+	12	2292	c.2023G>T	c.(2023-2025)Gag>Tag	p.E675*	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	675					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGGAGGAAGAGGTCTCCCA	0.527000													7	59					8.12818e-05	8.30336e-05	1	1	0
NUP88	4927	broad.mit.edu	37	17	5317411	5317411	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:5317411G>A	ENST00000573584.1	-	3	1020	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	171					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTAGAGTCAGAGAGGTGGAA	0.378000													8	41					0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150056332	150056332	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:150056332C>T	ENST00000520112.1	+	2	510	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	MYOZ3_ENST00000297130.4_Silent_p.F217F|MYOZ3_ENST00000517768.1_Silent_p.F217F|MYOZ3_ENST00000456566.2_3'UTR			Q8TDC0	MYOZ3_HUMAN	myozenin 3	140						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCCCCTTCATCCCGGAGC	0.647000													24	53					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121106	21121106	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:21121106C>T	ENST00000269228.5	-	16	2994	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	NPC1_ENST00000412552.2_Missense_Mutation_p.E496K|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	814					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)					AAACAGCTCTCTGAGGCCTGG	0.463000													29	53					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850553	216850553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:216850553G>A	ENST00000391890.3	-	4	785	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Q118*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Q90*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.Q113*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	113					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CACTTGGTCTGGGGATCTTCA	0.512000													21	93					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790427	118790427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:118790427G>A	ENST00000368491.3	-	12	2683	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	CEP85L_ENST00000368488.5_Nonsense_Mutation_p.Q691*	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	688						centrosome											TCCTGGCCCTGATCCAATAAA	0.423000													12	75					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606579	84606579	+	Silent	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:84606579C>G	ENST00000344803.2	+	4	1241	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGGCCAACCTCATAGAGCCTG	0.443000													9	51					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4825530	4825530	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:4825530A>G	ENST00000302640.8	+	50	6846	c.6496A>G	c.(6496-6498)Atg>Gtg	p.M2166V	ITPR1_ENST00000456211.2_Missense_Mutation_p.M2118V|ITPR1_ENST00000423119.2_Missense_Mutation_p.M2133V|ITPR1_ENST00000443694.2_Missense_Mutation_p.M2166V|ITPR1_ENST00000357086.4_Missense_Mutation_p.M2133V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.M2166V	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2181					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTTCAGAGCATGCTGAAACC	0.488000													3	17					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70522298	70522298	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:70522298C>A	ENST00000538820.1	+	3	495	c.155C>A	c.(154-156)cCt>cAt	p.P52H	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.P70H			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	70	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GAGAAGCTTCCTGAGGCCCCT	0.498000													7	11					0.0381472	0.0384174	1	1	0
ALB	213	broad.mit.edu	37	4	74274473	74274473	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:74274473G>A	ENST00000295897.4	+	4	522	c.433G>A	c.(433-435)Gat>Aat	p.D145N	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D145N|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	145	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ACCAGAGGTTGATGTGATGTG	0.398000													15	30					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39759229	39759229	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:39759229G>A	ENST00000564288.1	+	18	2869	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	MACF1_ENST00000317713.7_Missense_Mutation_p.E703K|MACF1_ENST00000545844.1_Missense_Mutation_p.E703K|MACF1_ENST00000567887.1_Missense_Mutation_p.E735K|MACF1_ENST00000372915.3_Missense_Mutation_p.E703K|MACF1_ENST00000361689.2_Missense_Mutation_p.E703K|MACF1_ENST00000539005.1_Missense_Mutation_p.E703K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	703	Poly-Glu.				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)			GGAGGAGGAGGAACTAGCATA	0.443000													33	74					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10741808	10741808	+	Silent	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:10741808C>G	ENST00000586078.1	+	5	430	c.321C>G	c.(319-321)ccC>ccG	p.P107P	SLC44A2_ENST00000407327.4_Silent_p.P105P|SLC44A2_ENST00000335757.5_Silent_p.P107P	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	107					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCCAATGTCCCACTCCCCAGG	0.527000													13	99					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203489	135203489	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:135203489C>T	ENST00000372169.2	-	10	3678	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	SETX_ENST00000393220.1_Missense_Mutation_p.E1166K|SETX_ENST00000224140.5_Missense_Mutation_p.E1166K			Q7Z333	SETX_HUMAN	senataxin	1166					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTGGTTTTTCAGATCGTTTT	0.388000													24	52					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6184556	6184556	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:6184556C>T	ENST00000261405.5	-	7	1073	c.819G>A	c.(817-819)cgG>cgA	p.R273R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	273			R -> W (in VWD1 and VWD3; defect in secretion and formation of multimers).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCACAGGTCCGGGCGTACT	0.672000													13	30					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627027	28627027	+	Silent	SNP	C	C	T	rs112541505		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:28627027C>T	ENST00000264716.4	+	2	1019	c.156C>T	c.(154-156)aaC>aaT	p.N52N	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.N13N|FOSL2_ENST00000379619.1_Silent_p.N27N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	52					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCACCATCAACGCCATCACGA	0.527000													24	34					0	0	1	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797431	31797431	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:31797431G>A	ENST00000375650.3	+	1	1920	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	HSPA1B_ENST00000545241.1_Silent_p.K477K	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	568					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						CGGACAAGAAGAAGGTTCTGG	0.582000													9	62					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124722	86124722	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:86124722G>A	ENST00000394518.2	+	7	3518	c.3423G>A	c.(3421-3423)gtG>gtA	p.V1141V	AKAP13_ENST00000361243.2_Silent_p.V1141V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1141					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						ACAAAGCTGTGACTGACCCAC	0.517000													9	48					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122277308	122277308	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:122277308C>T	ENST00000462315.1	-	3	315	c.22G>A	c.(22-24)Gga>Aga	p.G8R	PARP9_ENST00000477522.2_Missense_Mutation_p.G8R|PARP9_ENST00000360356.2_Missense_Mutation_p.G8R|PARP9_ENST00000471785.1_Missense_Mutation_p.G8R|PARP9_ENST00000492382.1_Missense_Mutation_p.G8R	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	8					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GCTGCTGCTCCGGCCACCTGT	0.418000													4	55					0	0	1	0	0
CAPS	828	broad.mit.edu	37	19	5914490	5914490	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:5914490G>A	ENST00000588776.1	+	2	2698	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Missense_Mutation_p.G25S|CAPS_ENST00000452990.2_Missense_Mutation_p.G25S			Q13938	CAYP1_HUMAN	calcyphosine	25	EF-hand 3.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GGGCATCCAGGGCCTGGCCAG	0.657000													8	19					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266587	55266587	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:55266587C>T	ENST00000371276.4	-	1	353	c.250G>A	c.(250-252)Gag>Aag	p.E84K	TTC22_ENST00000371274.4_Missense_Mutation_p.E84K	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	84							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGCGGGCCTCGTCCAGCTCC	0.701000													3	11					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108186757	108186757	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:108186757G>A	ENST00000278616.4	+	42	6500	c.6115G>A	c.(6115-6117)Gaa>Aaa	p.E2039K	ATM_ENST00000452508.2_Missense_Mutation_p.E2039K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2039	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2039K(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATATGAACACGAAGCAATGTG	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	27					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:42922574C>T	ENST00000372561.3	+	1	345	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647000													20	62					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440988	145440988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:145440988C>T	ENST00000369317.4	+	7	1409	c.1075C>T	c.(1075-1077)Caa>Taa	p.Q359*	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	359					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGGCTCTCAAGACAGCCC	0.448000													36	137					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69328274	69328274	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:69328274G>A	ENST00000260364.5	+	8	1433	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	NOX5_ENST00000530406.2_Missense_Mutation_p.E368K|NOX5_ENST00000388866.3_Missense_Mutation_p.E396K|NOX5_ENST00000455873.3_Missense_Mutation_p.E361K|NOX5_ENST00000448182.3_Missense_Mutation_p.E350K			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	396	Ferric oxidoreductase.|Poly-Leu.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGGCCACTTTGAGGTGCCCCA	0.582000													11	55					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33467040	33467040	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:33467040C>T	ENST00000442241.4	-	3	247	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	NLE1_ENST00000360831.5_Missense_Mutation_p.V70I|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	70						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				AGTGAGGAGACGATCTCAGCA	0.552000													3	40					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99762005	99762005	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:99762005G>A	ENST00000394132.2	-	6	1062	c.245C>T	c.(244-246)tCa>tTa	p.S82L	TTC23_ENST00000558663.1_Missense_Mutation_p.S82L|TTC23_ENST00000394136.1_Missense_Mutation_p.S82L|TTC23_ENST00000394130.1_Missense_Mutation_p.S82L|TTC23_ENST00000394135.3_Missense_Mutation_p.S82L|TTC23_ENST00000558613.1_Missense_Mutation_p.S82L|TTC23_ENST00000262074.4_Missense_Mutation_p.S82L|TTC23_ENST00000394129.2_Missense_Mutation_p.S82L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	82							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTTCCAATGTGAGTCTCCATA	0.473000													10	31					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420698	105420698	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:105420698C>T	ENST00000333244.5	-	7	1209	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	364						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGAGGCTATCACCCCAGGGC	0.647000													4	31					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732542	152732542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:152732542C>T	ENST00000368773.1	+	2	536	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q160*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	160	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGCTCCTCAGCCTGTCCA	0.507000													36	68					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632462	205632462	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:205632462C>T	ENST00000367145.3	-	3	752	c.457G>A	c.(457-459)Gac>Aac	p.D153N		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	153					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGGTCCGGGTCCCGGAAGAGG	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								11	13					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369266	37369266	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:37369266C>T	ENST00000333461.5	-	10	1482	c.1113G>A	c.(1111-1113)atG>atA	p.M371I		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	371					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCTTGAGGCTCATGTAACCCT	0.612000													12	65					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73246019	73246019	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:73246019C>T	ENST00000435050.1	+	2	3168	c.488C>T	c.(487-489)tCg>tTg	p.S163L	CLDN4_ENST00000431918.1_Missense_Mutation_p.S163L|CLDN4_ENST00000340958.2_Missense_Mutation_p.S163L			O14493	CLD4_HUMAN	claudin 4	163					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.S163L(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATGGGTGCCTCGCTCTACGTC	0.637000													11	23					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681409	19681409	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:19681409C>T	ENST00000251203.9	-	3	713	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCATATTTCTCTAGCTCAGAG	0.468000													12	39					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161284213	161284213	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:161284213G>A	ENST00000367975.2	+	1	167	c.18G>A	c.(16-18)ctG>ctA	p.L6L	SDHC_ENST00000432287.2_Silent_p.L6L|SDHC_ENST00000342751.4_Silent_p.L6L|SDHC_ENST00000392169.2_Silent_p.L6L|SDHC_ENST00000513009.1_Silent_p.L6L	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	6					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CGCTGTTGCTGAGGTGACTTC	0.662000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				7	19					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85437064	85437064	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:85437064C>T	ENST00000359152.5	-	1	2007	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E146K|SYTL2_ENST00000525423.1_Missense_Mutation_p.E146K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	196	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTTGAATCTCTTGTTCTGAG	0.368000													46	116					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340422	90340422	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:90340422C>T	ENST00000369408.5	+	15	2127	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	ANKRD6_ENST00000522441.1_Missense_Mutation_p.P628L|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.P623L|ANKRD6_ENST00000520793.1_Missense_Mutation_p.P564L|ANKRD6_ENST00000339746.4_Missense_Mutation_p.P628L	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	628							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAGAGTGGGCCAACAAGGCAT	0.617000													6	17					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966891	64966891	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:64966891G>A	ENST00000399262.2	-	10	4756	c.4538C>T	c.(4537-4539)tCa>tTa	p.S1513L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1331L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1294L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1294L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1513					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGGGAGGCTGAAAGTGTCTG	0.408000													43	87					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141017939	141017939	+	Silent	SNP	G	G	A	rs2545029		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:141017939G>A	ENST00000297164.3	+	1	1347	c.147G>A	c.(145-147)tcG>tcA	p.S49S	RELL2_ENST00000521367.1_Intron|RELL2_ENST00000444782.1_Silent_p.S49S|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	49						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCACGTCGAGGGGCTCTG	0.597000													27	50					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41754842	41754842	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:41754842C>T	ENST00000458694.1	+	8	1378	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F	PRICKLE4_ENST00000394260.1_Missense_Mutation_p.S337F|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.S377F	NM_013397.5	NP_037529.3	Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	337						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAACGCCTCTAAGACGCAC	0.592000											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	53					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2987377	2987377	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:2987377C>T	ENST00000396946.4	-	3	455	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	18	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCGTCCTCTTCATCCTTCAGC	0.512000			Mis		DLBCL								37	134					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036065	88036065	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:88036065G>A	ENST00000307808.6	+	11	2479	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	AFF1_ENST00000395146.4_Missense_Mutation_p.E694K|AFF1_ENST00000544085.1_Missense_Mutation_p.E325K	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	687						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)		CTCAGGCCCAGAACCCGCGAA	0.627000													5	26					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118372453	118372453	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:118372453C>T	ENST00000534358.1	+	26	6409	c.6386C>T	c.(6385-6387)cCt>cTt	p.P2129L	KMT2A_ENST00000389506.5_Missense_Mutation_p.P2126L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2088L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GACCGACCTCCTCATTCACAA	0.428000													28	97					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33290577	33290577	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:33290577G>A	ENST00000379540.3	+	1	69	c.7G>A	c.(7-9)Gag>Aag	p.E3K	NFX1_ENST00000379521.4_Missense_Mutation_p.E3K|NFX1_ENST00000318524.6_Missense_Mutation_p.E3K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	3					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CGGGATGGCGGAGGCGCCTCC	0.632000													6	45					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100007088	100007088	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:100007088G>A	ENST00000289371.6	+	17	2870	c.2668G>A	c.(2668-2670)Gtt>Att	p.V890I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TACAATCATTGTTCCTGGAGT	0.468000													12	84					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338522	91338522	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:91338522G>A	ENST00000261991.3	-	17	2478	c.2305C>T	c.(2305-2307)Cat>Tat	p.H769Y	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.H690Y	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	769					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CCGTGAGAATGAGAGGAAGAA	0.507000													6	36					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43187136	43187136	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr21:43187136G>A	ENST00000352483.2	-	1	130	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RIPK4_ENST00000332512.3_Silent_p.F22F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	22						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCAGCCCGTGAACTCGCCCG	0.716000													6	8					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38695940	38695940	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:38695940C>T	ENST00000396832.1	-	6	956	c.696G>A	c.(694-696)aaG>aaA	p.K232K	CSNK1E_ENST00000403904.1_Silent_p.K232K|CSNK1E_ENST00000359867.3_Silent_p.K232K|CSNK1E_ENST00000413574.2_Silent_p.K232K|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000405675.3_Silent_p.K232K|CSNK1E_ENST00000400206.2_Silent_p.K232K	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	232	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCGTTGACATCTTCTTCTCGC	0.592000													14	75					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957812	38957812	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:38957812G>C	ENST00000359357.3	+	86	12681	c.12427G>C	c.(12427-12429)Gaa>Caa	p.E4143Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.E4107Q					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						GAAGATGTTTGAACCGTCATT	0.383000													31	66					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109472377	109472377	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:109472377C>T	ENST00000406462.2	+	16	2643	c.1870C>T	c.(1870-1872)Ccg>Tcg	p.P624S	CLCC1_ENST00000356970.2_3'UTR|CLCC1_ENST00000369968.2_3'UTR|AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.P624S|CLCC1_ENST00000369969.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CACAAAGGGTCCGACAGTACC	0.408000													11	56					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101924945	101924945	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:101924945C>T	ENST00000295317.3	-	1	213	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	36						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GAGAACCACTCGAGAgcccgg	0.721000													9	25					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44421333	44421333	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:44421333G>A	ENST00000372622.3	+	2	191	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	41						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GGAACATAATGATAAAGCACC	0.577000													18	38					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68221801	68221801	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:68221801A>T	ENST00000347230.4	-	37	7091	c.6953T>A	c.(6952-6954)tTc>tAc	p.F2318Y	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.F164Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2318					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)		CTTCTTTCTGAAGAATGTGGT	0.507000													22	118					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17443704	17443704	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:17443704C>T	ENST00000400588.1	-	10	1751	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	548										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGCCTGGGTCTTCTCCAGAT	0.602000													4	25					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72912924	72912924	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:72912924G>A	ENST00000361138.5	+	9	1154	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	366					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						GCAAAATGAAGAGCTTGACCG	0.383000													38	112					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14991493	14991493	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:14991493C>T	ENST00000361010.3	-	3	289	c.215G>A	c.(214-216)aGa>aAa	p.R72K	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.R72K|CALCA_ENST00000331587.4_Missense_Mutation_p.R72K|CALCA_ENST00000396372.2_Missense_Mutation_p.R72K|CALCA_ENST00000486207.1_Missense_Mutation_p.R72K	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	72					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GGAGCCCTCTCTCTCTTGCTC	0.627000											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	49					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3499227	3499227	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:3499227C>T	ENST00000315677.3	-	13	3485	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	DLGAP1_ENST00000400149.3_Missense_Mutation_p.E654K|DLGAP1_ENST00000400155.1_Missense_Mutation_p.E670K|DLGAP1_ENST00000581699.1_Missense_Mutation_p.E670K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E964K|DLGAP1_ENST00000539435.1_Missense_Mutation_p.E672K|DLGAP1_ENST00000534970.1_Missense_Mutation_p.E648K|DLGAP1_ENST00000400147.2_Missense_Mutation_p.E662K|DLGAP1_ENST00000400150.3_Missense_Mutation_p.E680K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	964					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGATGCTCTCGGCGCTCTCG	0.751000													4	7					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3192572	3192572	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:3192572C>T	ENST00000231948.4	-	11	1328	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	CRBN_ENST00000432408.2_Missense_Mutation_p.D435N	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	436	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ATTACTTTGTCTGGACTTATT	0.378000													9	25					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67796171	67796171	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:67796171G>A	ENST00000422365.2	+	9	1186	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MCMDC2_ENST00000396592.3_Missense_Mutation_p.E339K|MCMDC2_ENST00000313616.5_Missense_Mutation_p.E339K|MCMDC2_ENST00000541540.1_Missense_Mutation_p.E276K|MCMDC2_ENST00000492775.1_Missense_Mutation_p.E339K	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	339					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						CCGTAACAAGGAACTGGAAGA	0.358000													17	43					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885089	50885089	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:50885089C>T	ENST00000404795.3	-	3	1269	c.877G>A	c.(877-879)Gac>Aac	p.D293N	DMRTA2_ENST00000418121.1_Missense_Mutation_p.D293N	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	293	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						TCTTCTTTGTCAGCCTCTGAA	0.716000													5	27					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126834	73126834	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:73126834G>A	ENST00000569990.2	+	0	587					NR_027756.1																						TAGTTGCAGAGAAAAGCCAAC	0.502000													5	39					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3979977	3979977	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:3979977G>A	ENST00000309311.6	-	10	1522	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	478						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCACCAGGAACTGGTCCA	0.592000													7	20					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62785091	62785091	+	Silent	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:62785091G>C	ENST00000280377.5	+	16	2173	c.2115G>C	c.(2113-2115)acG>acC	p.T705T	USP15_ENST00000353364.3_Silent_p.T676T|USP15_ENST00000393654.3_Silent_p.T680T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	705					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTCAACTCACGGGACACAAAA	0.363000													17	64					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201226	71201226	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:71201226C>T	ENST00000273936.5	+	1	544	c.470C>T	c.(469-471)tCa>tTa	p.S157L		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAGAGATCTCAATAACCTCT	0.423000													10	29					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31979905	31979905	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:31979905G>A	ENST00000432498.1	+	12	1593	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SFI1_ENST00000414585.1_Silent_p.Q278Q|SFI1_ENST00000540643.1_Silent_p.Q376Q|SFI1_ENST00000400289.1_Silent_p.Q349Q|SFI1_ENST00000443011.1_Silent_p.Q278Q|SFI1_ENST00000400288.2_Silent_p.Q431Q|SFI1_ENST00000443326.1_Silent_p.Q349Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	431					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGATTGAGCAGAAAAAGGAAA	0.507000													38	92					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569770	30569770	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30569770G>C	ENST00000376511.2	-	19	3208	c.2656C>G	c.(2656-2658)Cct>Gct	p.P886A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	886	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCGTGGCCAGGACCATCATGG	0.667000													6	9					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988172	154988172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:154988172C>T	ENST00000368426.3	+	3	1173	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.Q346*|ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.Q346*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.Q380*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	346					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGATGCCTCAGGAGTGCCC	0.617000													16	32					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246829053	246829053	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:246829053C>T	ENST00000366513.4	+	11	2293	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	675					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGCATAGCAACGGTTTTCCTC	0.443000													16	52					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668811	102668811	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:102668811G>A	ENST00000315274.6	-	1	80	c.13C>T	c.(13-15)Cct>Tct	p.P5S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	5					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGCAGTGGAGGAAAGCTGTGC	0.522000													3	16					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918352	16918352	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:16918352C>T	ENST00000430580.2	-	7	1052	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	55						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTATTTCTTCTGTCGGTTGG	0.433000													46	1016					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350436	65350436	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:65350436G>A	ENST00000309295.4	+	9	2558	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	765	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGGGAATAGAGACTGGGGC	0.517000													12	30					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132445447	132445447	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:132445447C>A	ENST00000333577.4	+	2	392	c.283C>A	c.(283-285)Ccg>Acg	p.P95T	EP400_ENST00000332482.4_Missense_Mutation_p.P95T|EP400_ENST00000389561.2_Missense_Mutation_p.P95T|EP400_ENST00000330386.6_Missense_Mutation_p.P95T|EP400_ENST00000389562.2_Missense_Mutation_p.P95T			Q96L91	EP400_HUMAN	E1A binding protein p400	95					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCCACTGCCGCTCCCCAG	0.622000													3	41					1	1	1	1	0
OLR1	4973	broad.mit.edu	37	12	10324644	10324644	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:10324644C>T	ENST00000309539.3	-	1	93	c.33G>A	c.(31-33)gtG>gtA	p.V11V	TMEM52B_ENST00000381923.2_Intron|TMEM52B_ENST00000545924.1_Intron|OLR1_ENST00000432556.2_Silent_p.V11V|OLR1_ENST00000545927.1_Silent_p.V11V|OLR1_ENST00000544577.1_Silent_p.V11V	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	11					blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGGTCCTTCACAGTCTGGA	0.398000													8	31					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959147	9959147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:9959147C>T	ENST00000295981.3	+	1	366	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000416074.2_Intron	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	50						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTCAGGGTTCAGTTTTTGGC	0.577000													20	49					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190136	72190136	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:72190136C>T	ENST00000356056.5	-	25	5180	c.4708G>A	c.(4708-4710)Gaa>Aaa	p.E1570K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1551K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1570K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1570K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E1190K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1570	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACATTAAGTTCTCCCTTATTT	0.463000													15	34					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656609	240656609	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:240656609C>T	ENST00000318160.4	-	2	433	c.167G>A	c.(166-168)aGc>aAc	p.S56N		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	56					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)			GGCCTCCTGGCTGGAGGCCAG	0.662000													16	34					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180772	19180772	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:19180772C>T	ENST00000375371.3	-	3	1213	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	398					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTGTGCAGGGCATGGGCCACA	0.607000													6	13					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937120	29937120	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:29937120C>T	ENST00000568000.1	-	1	1236	c.235G>A	c.(235-237)Gat>Aat	p.D79N	KCTD13_ENST00000561540.1_Missense_Mutation_p.D79N|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	79	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCTCCGGCATCGGTCAGCACC	0.682000													9	40					0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4688890	4688890	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:4688890G>A	ENST00000328739.5	-	3	455	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	126					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCTCCACGCGAAGCGAGAAA	0.657000													7	23					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517866	79517866	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:79517866G>A	ENST00000537152.1	-	3	726	c.201C>T	c.(199-201)ttC>ttT	p.F67F	C17orf70_ENST00000327787.8_Silent_p.F218F	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	218					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTCCAGCGTGAAGCCCCCGG	0.652000													5	6					0	0	1	0	0
HES4	57801	broad.mit.edu	37	1	935152	935152	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:935152T>C	ENST00000428771.2	-	1	400	c.202A>G	c.(202-204)Atg>Gtg	p.M68V	HES4_ENST00000304952.6_Missense_Mutation_p.M42V|HES4_ENST00000484667.2_Intron	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	42	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTTCTCCATGACCGGCTTG	0.701000													12	57					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993732	52993732	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:52993732C>T	ENST00000259803.7	-	6	794	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	195						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTTGTGTTTCACCTGGAAGA	0.418000													13	96					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019586	74019586	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:74019586C>T	ENST00000301607.3	-	3	601	c.348G>A	c.(346-348)gaG>gaA	p.E116E	EVPL_ENST00000586740.1_Silent_p.E116E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	116	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCACTCCTTCTCAATCTCCT	0.662000													13	24					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161491817	161491817	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:161491817G>A	ENST00000392142.4	+	4	2033	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E629K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E629K|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E629K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	629					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGTCATACATGAGTGTCTGAA	0.443000													3	18					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61615776	61615776	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:61615776G>A	ENST00000583023.1	+	8	1718	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	KCNH6_ENST00000581784.1_Silent_p.L516L|KCNH6_ENST00000456941.2_Silent_p.L516L|KCNH6_ENST00000314672.5_Silent_p.L569L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	569					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGCAGGTGCTGAAGGGCTTCC	0.736000													5	6					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255333	30255333	+	Silent	SNP	A	A	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr21:30255333A>T	ENST00000303775.5	-	2	220	c.195T>A	c.(193-195)tcT>tcA	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333000													13	88					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21662956	21662956	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:21662956G>A	ENST00000317571.3	+	6	1131	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	TTC39C_ENST00000304621.6_Missense_Mutation_p.E238K|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	299							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AGGCCTGGATGAAGCTAAGGA	0.438000													21	96					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52280475	52280475	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:52280475G>A	ENST00000354831.7	-	14	1843	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.L420F|NRD1_ENST00000544028.1_Missense_Mutation_p.L352F|NRD1_ENST00000352171.7_Missense_Mutation_p.L484F	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	483					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AACAGTGCAAGAGCCCAGCAT	0.378000													14	37					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152208	43152208	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:43152208G>C	ENST00000252050.4	+	2	244	c.160G>C	c.(160-162)Ggt>Cgt	p.G54R	CUL9_ENST00000372647.2_Missense_Mutation_p.G54R|CUL9_ENST00000354495.3_Missense_Mutation_p.G54R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	54					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGCAAAGTGGGTGTGGAAGA	0.552000													10	39					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151101615	151101615	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:151101615G>A	ENST00000474524.1	+	32	4662	c.4624G>A	c.(4624-4626)Gac>Aac	p.D1542N	MED12L_ENST00000273432.4_Missense_Mutation_p.D1402N|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1542					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGGACTACAGACTGGGCCCT	0.408000													10	23					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394632	64394632	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:64394632G>A	ENST00000262043.3	+	4	1349	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	PHF3_ENST00000393387.1_Missense_Mutation_p.E337K|PHF3_ENST00000509330.1_Missense_Mutation_p.E337K			Q92576	PHF3_HUMAN	PHD finger protein 3	337					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATATTCTTGAGGACGCTGG	0.378000													11	57					0	0	1	0	0
EXOSC1	51013	broad.mit.edu	37	10	99205532	99205532	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:99205532G>A	ENST00000370902.3	-	2	135	c.104C>T	c.(103-105)tCg>tTg	p.S35L	EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Missense_Mutation_p.S35L|EXOSC1_ENST00000370886.5_Missense_Mutation_p.S35L|EXOSC1_ENST00000370885.4_Missense_Mutation_p.S35L	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	35					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GGCAAGCGACGAAAAGATGTA	0.582000											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	37					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040239	88040239	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:88040239C>G	ENST00000319595.4	+	1	394	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	114					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)	CATCTTGCATCTCTCAGCTAT	0.453000													16	49					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748279	36748279	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:36748279C>T	ENST00000354618.5	+	3	339	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R39C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	39	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCTCTCTCGTTCAAGGAA	0.458000			T	USP6	aneurysmal bone cysts								23	40					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474243	160474243	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:160474243G>A	ENST00000498165.1	+	1	248	c.147G>A	c.(145-147)gtG>gtA	p.V49V	PPM1L_ENST00000497343.1_Silent_p.V49V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	49					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGACCATCGTGAAGTCCAGCC	0.562000													14	28					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134933	203134933	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:203134933C>T	ENST00000367236.4	+	3	1807	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R296C|ADORA1_ENST00000337894.4_Missense_Mutation_p.R296C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	296					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCAGAAGTTCCGCGTCACCTT	0.552000													6	56					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31424874	31424874	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:31424874C>T	ENST00000355683.5	-	3	627	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	STRN3_ENST00000357479.5_Missense_Mutation_p.G138S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	138					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGTTCCGTGCCATATTTTAAT	0.289000													11	62					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222096	41222096	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:41222096G>A	ENST00000249749.5	+	2	394	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	40					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)		GTTCATCAACGAGCGCGGCGT	0.687000													15	26					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102709862	102709862	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:102709862G>A	ENST00000238961.4	+	16	3692	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	FAM178A_ENST00000370269.3_Silent_p.Q1050Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		ATCTTGTGCAGATGAAGCCTT	0.343000													37	103					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16677355	16677355	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:16677355G>A	ENST00000595753.1	-	4	761	c.744C>T	c.(742-744)gtC>gtT	p.V248V	SLC35E1_ENST00000431408.1_Silent_p.V92V|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	248					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						AGTCGCTGCTGACCAGGAAAG	0.537000													10	48					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65578618	65578618	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:65578618G>A	ENST00000261888.6	-	1	592	c.147C>T	c.(145-147)cgC>cgT	p.R49R	PARP16_ENST00000444347.2_Silent_p.R49R|PARP16_ENST00000558873.1_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	49						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TACAGTCGCCGCGGGCGTAGG	0.662000													4	8					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799759	119799759	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:119799759G>A	ENST00000355624.3	-	2	1110	c.671C>T	c.(670-672)tCa>tTa	p.S224L	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S224L|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	224					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGAATGCGCTGACGAGAGTCG	0.443000													35	103					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118822	31118822	+	Silent	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:31118822C>A	ENST00000396268.3	-	5	1067	c.879G>T	c.(877-879)ctG>ctT	p.L293L	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Silent_p.L204L|CCHCR1_ENST00000451521.2_Silent_p.L257L|CCHCR1_ENST00000376266.5_Silent_p.L204L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	204					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCAGACTACTCAGAGACTTCT	0.597000													39	161					7.53189e-24	7.87526e-24	1	1	0
PBXIP1	57326	broad.mit.edu	37	1	154918222	154918222	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:154918222A>G	ENST00000368463.3	-	10	1999	c.1928T>C	c.(1927-1929)tTt>tCt	p.F643S	PBXIP1_ENST00000368465.1_Missense_Mutation_p.F614S|PBXIP1_ENST00000542459.1_Missense_Mutation_p.F488S|PBXIP1_ENST00000539880.1_Missense_Mutation_p.F470S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	643					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCCTCACCAAAGAAAGCAGG	0.597000													4	56					0	0	1	0	0
NUDT3	11165	broad.mit.edu	37	6	34256701	34256701	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:34256701C>G	ENST00000607016.1	-	5	659	c.348G>C	c.(346-348)aaG>aaC	p.K116N	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.K235N	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						ACCATTCCCTCTTCCTTCCTG	0.393000													3	34					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119238786	119238786	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:119238786C>T	ENST00000316316.6	-	5	1130	c.844G>A	c.(844-846)Gag>Aag	p.E282K	MCM9_ENST00000316068.3_Missense_Mutation_p.E282K	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	282					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TGGACCTCCTCATCCATGATG	0.403000													16	76					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													15	39					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1573576	1573576	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:1573576G>A	ENST00000426508.2	-	26	3759	c.3396C>T	c.(3394-3396)ttC>ttT	p.F1132F	IFT140_ENST00000361339.5_Silent_p.F326F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1132										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTCGATGAAGAAGTCGGAGC	0.652000													18	21					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198290	185198290	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:185198290G>T	ENST00000265026.3	+	13	3106	c.2772G>T	c.(2770-2772)aaG>aaT	p.K924N	MAP3K13_ENST00000446828.1_Missense_Mutation_p.K717N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.K924N|MAP3K13_ENST00000443863.1_Missense_Mutation_p.K780N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.K780N|TMEM41A_ENST00000475480.1_5'UTR	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	924					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCTGGGCAAGCTGTGTGTGG	0.547000													4	39					0.000602214	0.000612553	1	1	0
THOC2	57187	broad.mit.edu	37	X	122866822	122866822	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:122866822C>T	ENST00000245838.8	-	1	82	c.51G>A	c.(49-51)gaG>gaA	p.E17E	THOC2_ENST00000355725.4_Silent_p.E17E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	17					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCCTGATTTCTCCCAGTTCT	0.627000											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	13					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327252	52327252	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:52327252C>T	ENST00000339223.4	+	2	430	c.251C>T	c.(250-252)tCa>tTa	p.S84L	FPR3_ENST00000595991.1_Missense_Mutation_p.S84L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	84					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.S84L(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CGAATGGTCTCAGTCGCCATG	0.468000													29	72					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811389	144811389	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:144811389C>T	ENST00000388913.3	-	3	677	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	184					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGCGCGTTCATCTCATCCA	0.622000													24	70					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922315	108922315	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr13:108922315G>A	ENST00000375887.4	+	1	250	c.72G>A	c.(70-72)ctG>ctA	p.L24L	TNFSF13B_ENST00000542136.1_Silent_p.L24L|TNFSF13B_ENST00000430559.1_Silent_p.L24L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	24					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AAATGAAACTGAAGGAGTGTG	0.502000													46	105					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346421	29346421	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:29346421G>C	ENST00000558402.1	+	5	933	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	APBA2_ENST00000558259.1_Missense_Mutation_p.E112Q|APBA2_ENST00000558330.1_Missense_Mutation_p.E112Q|APBA2_ENST00000411764.1_Missense_Mutation_p.E112Q|APBA2_ENST00000561069.1_Missense_Mutation_p.E112Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	112					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGCTACCTAGAGGGCATGGA	0.622000													18	60					0	0	1	0	0
MFAP2	4237	broad.mit.edu	37	1	17303634	17303634	+	Missense_Mutation	SNP	C	C	T	rs146781619		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:17303634C>T	ENST00000375535.3	-	3	386	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	MFAP2_ENST00000375534.3_Missense_Mutation_p.V32I|MFAP2_ENST00000438542.1_Missense_Mutation_p.V32I|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	33						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GTGTACTGGACGTGGTCAGGG	0.652000													12	26					0	0	1	0	0
AKT1S1	84335	broad.mit.edu	37	19	50375147	50375147	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:50375147C>T	ENST00000391833.1	-	2	2369		c.e2-1		AKT1S1_ENST00000391832.3_Splice_Site|AKT1S1_ENST00000391831.1_Splice_Site|AKT1S1_ENST00000391834.2_Splice_Site|AKT1S1_ENST00000344175.5_Splice_Site|AKT1S1_ENST00000391835.1_Splice_Site	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)						negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAAAGAGCCCTGTGGATGAC	0.617000													14	59					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919760	26919760	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:26919760C>T	ENST00000321765.5	-	3	834	c.502G>A	c.(502-504)Gat>Aat	p.D168N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	168					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCACCAGATCGTCTGTTCTC	0.473000													16	62					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247367	153247367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:153247367G>A	ENST00000281708.4	-	10	2664	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R303*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R399*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R361*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								28	37					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13007118	13007118	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:13007118C>T	ENST00000222214.5	+	8	946	c.735C>T	c.(733-735)ctC>ctT	p.L245L	GCDH_ENST00000591470.1_Silent_p.L245L|GCDH_ENST00000457854.1_Silent_p.L245L|GCDH_ENST00000422947.2_Silent_p.L201L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	245					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TGCGGGGTCTCTCGGCCCCCA	0.612000													7	42					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691110	84691110	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:84691110G>C	ENST00000564996.1	+	3	838	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	KLHL36_ENST00000258157.5_Missense_Mutation_p.E233Q	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	233	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCAGGTGCTGGAGAACATCCA	0.692000													7	35					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132257125	132257125	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:132257125G>A	ENST00000260818.6	+	56	6979	c.6731G>A	c.(6730-6732)tGa>tAa	p.*2244*		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	0							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCAGACTTGAAATATTCAC	0.493000													8	26					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45562397	45562397	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:45562397G>C	ENST00000347644.3	+	15	1636	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	524					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCCTAGGTGAGAGCTGAAATC	0.408000													15	56					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894743	219894743	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:219894743G>A	ENST00000341552.5	-	10	1432	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S450F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S450F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S385F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S439F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	450						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGGTCTTGGAGGCACAGCC	0.572000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089463	27089463	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:27089463G>A	ENST00000324856.7	+	8	2790		c.e8-1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCCCTCCCAGGTGGCTACCC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	19					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949606	40949606	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:40949606G>C	ENST00000346991.5	+	25	7116	c.6726G>C	c.(6724-6726)gaG>gaC	p.E2242D	CASC5_ENST00000399668.2_Missense_Mutation_p.E2216D			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2242	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTGGAGAGGAGATTGAGTATT	0.353000													28	74					0	0	1	0	0
CYHR1	50626	broad.mit.edu	37	8	145690194	145690194	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:145690194C>T	ENST00000438911.2	-	1	224	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CYHR1_ENST00000306145.5_Missense_Mutation_p.E31K|CYHR1_ENST00000424149.2_Missense_Mutation_p.E31K|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Missense_Mutation_p.E31K	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	31						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTACTCACCTCGGCTGTGCTC	0.632000													4	13					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637000													3	31					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10132131	10132131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:10132131C>T	ENST00000343090.6	+	2	145	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	UBE4B_ENST00000253251.8_Nonsense_Mutation_p.Q24*|UBE4B_ENST00000377153.1_Nonsense_Mutation_p.Q24*|UBE4B_ENST00000377157.3_5'UTR	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	24					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)		ACAGACCTCTCAGCCAACCAC	0.557000													10	39					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3653353	3653353	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:3653353C>T	ENST00000335312.3	-	7	944	c.856G>A	c.(856-858)Gag>Aag	p.E286K	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E286K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E286K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E286K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	286	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGAGCCCCTCGGGCATGTCC	0.672000													10	29					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295195	184295195	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:184295195G>T	ENST00000330394.2	+	6	1871	c.1419G>T	c.(1417-1419)tgG>tgT	p.W473C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	473	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCCTATCCTGGGCACCCCCAG	0.632000													21	38					1.00905e-13	1.0535e-13	1	1	0
PWWP2B	170394	broad.mit.edu	37	10	134218733	134218733	+	Silent	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:134218733G>C	ENST00000305233.5	+	2	788	c.729G>C	c.(727-729)ccG>ccC	p.P243P	PWWP2B_ENST00000368609.4_Silent_p.P243P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	243										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)		ACAGGGCCCCGGCAGAGCAGG	0.711000													3	7					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109190	42109190	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:42109190G>A	ENST00000457542.2	+	14	1954	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	MAPKBP1_ENST00000221214.6_Silent_p.T439T|MAPKBP1_ENST00000260357.7_Silent_p.T395T|MAPKBP1_ENST00000514566.1_Silent_p.T556T|MAPKBP1_ENST00000456763.2_Silent_p.T562T	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	562										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TACAGCAGACGCTGGACGAAC	0.592000													4	99					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77843921	77843921	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:77843921G>A	ENST00000216471.4	+	1	446	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	54										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATTTACCAAGAGCCACAGCC	0.527000													22	37					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8705313	8705313	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:8705313G>A	ENST00000378641.3	+	16	2067	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G531E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G531E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	531					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						GGGACTGCTGGAAGTGAGGCT	0.368000													14	46					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39033714	39033714	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:39033714G>A	ENST00000295373.6	-	22	3929	c.3803C>T	c.(3802-3804)tCa>tTa	p.S1268L		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1268							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAGTTCACTGATGAAGGGTG	0.418000													70	74					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084052	26084052	+	RNA	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:26084052T>C	ENST00000478176.1	-	0	405					NR_003678.1																						tttcaaaatatggaaaactca	0.294000													4	6					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24687510	24687510	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:24687510G>C	ENST00000374409.1	-	8	1013	c.759C>G	c.(757-759)ttC>ttG	p.F253L	STPG1_ENST00000440416.1_Missense_Mutation_p.F206L|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.F253L|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_Missense_Mutation_p.F206L	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GCTGAGCAGAGAAGTTCAGGA	0.517000													11	27					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244980	141244980	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:141244980C>T	ENST00000287008.3	-	3	1063	c.916G>A	c.(916-918)Gac>Aac	p.D306N	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.D284N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.D294N|PCDH1_ENST00000394536.3_Missense_Mutation_p.D306N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	306	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGTCTGAGTCATTGGCCTTC	0.488000													17	71					0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312445	75312445	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:75312445G>A	ENST00000395748.3	+	2	468	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AREG_ENST00000502307.1_Missense_Mutation_p.E86K|AREG_ENST00000264487.2_Missense_Mutation_p.E86K	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	86					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTACTCAGAAGAGTATGATAA	0.453000													40	54					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60161290	60161290	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:60161290C>T	ENST00000358246.1	+	6	737	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.H227Y|MS4A7_ENST00000534016.1_Missense_Mutation_p.H182Y	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	227						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GTCACAAGATCATATCCAACA	0.353000													32	117					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1582626	1582626	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:1582626C>T	ENST00000572621.1	-	9	1633	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542000													11	47					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39104895	39104895	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:39104895C>T	ENST00000216044.5	+	2	471	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	80					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CAGCCTACTTCGGCAGATGTG	0.478000													3	32					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28935728	28935728	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:28935728C>T	ENST00000358201.4	-	2	858	c.270G>A	c.(268-270)ctG>ctA	p.L90L	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_Silent_p.L90L|RABEP2_ENST00000544477.1_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	90					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCTCACCTTTCAGGATGGCCT	0.612000													13	49					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52632551	52632551	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:52632551C>T	ENST00000399231.3	-	32	4324	c.4081G>A	c.(4081-4083)Gag>Aag	p.E1361K	MYO5A_ENST00000358212.6_Missense_Mutation_p.E1361K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1334K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1334K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1358K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1361					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)		GCCTCATTCTCATGGCTCCTC	0.632000													21	60					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44592577	44592577	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:44592577C>T	ENST00000322927.2	-	8	1255	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	ZNF335_ENST00000426788.1_Silent_p.E230E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GATCCTGTGGCTCTGGAGGGC	0.632000													12	39					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895893	144895893	+	Silent	SNP	G	G	A	rs143514418	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:144895893G>A	ENST00000356994.2	-	4	366	c.360C>T	c.(358-360)ctC>ctT	p.L120L	SCRIB_ENST00000320476.3_Silent_p.L120L|SCRIB_ENST00000377533.3_Silent_p.L39L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	120	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCCATCAGGGAGCCTGGATG	0.652000													7	29					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98232117	98232117	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:98232117C>T	ENST00000430669.2	-	13	2212	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	PTCH1_ENST00000418258.1_Missense_Mutation_p.D458N|PTCH1_ENST00000331920.6_Missense_Mutation_p.D609N|PTCH1_ENST00000429896.2_Missense_Mutation_p.D458N|PTCH1_ENST00000437951.1_Missense_Mutation_p.D543N|PTCH1_ENST00000375274.2_Missense_Mutation_p.D608N|PTCH1_ENST00000421141.1_Missense_Mutation_p.D458N			Q13635	PTC1_HUMAN	patched 1	609	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGAAAATATCCAGTCTCCTG	0.458000													20	100					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99608292	99608292	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:99608292C>T	ENST00000523601.1	-	9	1273	c.874G>A	c.(874-876)Gag>Aag	p.E292K	STK3_ENST00000419617.2_Missense_Mutation_p.E264K|STK3_ENST00000521768.1_5'UTR	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	264					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTCTCTGCTCAGGATTCTTC	0.418000													6	69					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89827602	89827602	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:89827602G>A	ENST00000452027.2	-	1	198	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	2					assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CGTGTAGCGAGACATGACCGC	0.711000													3	7					0	0	1	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67952011	67952011	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:67952011G>A	ENST00000377477.2	+	9	1086	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AATGGACAAGGAGAAGGTGAG	0.483000													28	184					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65124886	65124886	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:65124886C>T	ENST00000358691.5	-	24	3434	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1091K	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAAAGCCTCTAACTGGGCT	0.418000													42	93					0	0	1	0	0
TWIST1	7291	broad.mit.edu	37	7	19156468	19156468	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:19156468G>A	ENST00000242261.5	-	1	827	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	159	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GGACCTGGTAGAGGAAGTCGA	0.617000													9	29					0	0	1	0	0
CAPZA1	829	broad.mit.edu	37	1	113202342	113202342	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:113202342G>A	ENST00000263168.3	+	7	1198	c.526G>A	c.(526-528)Gag>Aag	p.E176K	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	176					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAGATCAGAGTGGAAGTT	0.423000													7	30					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162476	47162476	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:47162476C>A	ENST00000409792.3	-	3	3692	c.3650G>T	c.(3649-3651)tGg>tTg	p.W1217L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTCTGTTGCCAAGACTTATT	0.418000			"""N, F, S, Mis"""		clear cell renal carcinoma								15	147					0.000219431	0.000223518	1	1	0
KIF18B	146909	broad.mit.edu	37	17	43005492	43005492	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:43005492G>A	ENST00000587309.1	-	13	2237	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	KIF18B_ENST00000339151.4_Silent_p.L729L|KIF18B_ENST00000593135.1_Silent_p.L726L|KIF18B_ENST00000590129.1_Silent_p.L747L|KIF18B_ENST00000438933.2_Silent_p.L738L	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCTCCTCAGAGAGATCAAAGG	0.597000													7	12					0	0	1	0	0
GPX2	2877	broad.mit.edu	37	14	65409384	65409384	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:65409384C>T	ENST00000389614.5	-	1	147	c.61G>A	c.(61-63)Gta>Ata	p.V21I	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	21					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TTGAAATCTACCTTCTCCCCA	0.582000													8	37					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100340916	100340916	+	Silent	SNP	A	A	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:100340916A>G	ENST00000294724.4	+	10	1666	c.1188A>G	c.(1186-1188)gcA>gcG	p.A396A	AGL_ENST00000477753.1_3'UTR|AGL_ENST00000370163.3_Silent_p.A396A|AGL_ENST00000361915.3_Silent_p.A396A|AGL_ENST00000370165.3_Silent_p.A396A|AGL_ENST00000370161.2_Silent_p.A380A|AGL_ENST00000361302.3_Silent_p.A380A|AGL_ENST00000361522.4_Silent_p.A379A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	396					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTTTTCAGGCAGTTAATTGCC	0.373000													26	54					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76823778	76823778	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:76823778C>T	ENST00000278559.3	+	4	630	c.441C>T	c.(439-441)ctC>ctT	p.L147L	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.L147L|CAPN5_ENST00000456580.2_Silent_p.L187L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	147	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACAACCAGCTCATCTACTGCC	0.607000													14	37					0	0	1	0	0
SRA1	10011	broad.mit.edu	37	5	139930464	139930464	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:139930464C>T	ENST00000336283.6	-	5	1353	c.532G>A	c.(532-534)Gac>Aac	p.D178N	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	178					apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGATGTCATCTGCTGCG	0.522000													11	42					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3192584	3192584	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:3192584C>T	ENST00000231948.4	-	11	1316	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CRBN_ENST00000432408.2_Missense_Mutation_p.E431K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	432	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		GGACTTATTTCATCTTCAGTG	0.378000													9	30					0	0	1	0	0
CPLX1	10815	broad.mit.edu	37	4	780372	780372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:780372C>A	ENST00000304062.6	-	4	553	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CPLX1_ENST00000505203.1_Nonsense_Mutation_p.E87*	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	108					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTCCACCTCGTCCCCGCAG	0.697000													3	17					0.115264	0.115589	1	1	0
MKRN1	23608	broad.mit.edu	37	7	140156619	140156619	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:140156619C>T	ENST00000480552.1	-	3	266	c.170G>A	c.(169-171)tGc>tAc	p.C57Y	MKRN1_ENST00000437223.2_Silent_p.V7V|MKRN1_ENST00000255977.2_Silent_p.V273V|MKRN1_ENST00000474576.1_Silent_p.V209V|MKRN1_ENST00000443720.2_Silent_p.V273V			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	91							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TGCTGCGCTGCACGGCAAATG	0.537000													14	30					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63320463	63320463	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:63320463C>T	ENST00000255695.1	-	4	520	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	154					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCTTCTGGCCAGCAGGATCC	0.537000													15	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8971691	8971691	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:8971691C>T	ENST00000397910.4	-	78	43104	c.42901G>A	c.(42901-42903)Gac>Aac	p.D14301N	MUC16_ENST00000380951.5_Missense_Mutation_p.D942N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14396	SEA 15.			Missing (in Ref. 3; AAK74120).	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						ACATGGATGTCCACCAACTGG	0.527000													11	31					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152267	73152267	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:73152267C>T	ENST00000377110.3	-	25	3969	c.3726G>A	c.(3724-3726)atG>atA	p.M1242I	TRPM3_ENST00000377106.1_Missense_Mutation_p.M1114I|TRPM3_ENST00000377105.1_Missense_Mutation_p.M1101I|TRPM3_ENST00000360823.2_Missense_Mutation_p.M1104I|TRPM3_ENST00000377111.2_Missense_Mutation_p.M1242I|TRPM3_ENST00000408909.2_Missense_Mutation_p.M1101I|TRPM3_ENST00000396285.1_Missense_Mutation_p.M1101I|TRPM3_ENST00000358082.3_Missense_Mutation_p.M1104I|TRPM3_ENST00000396292.4_Missense_Mutation_p.M1114I|TRPM3_ENST00000357533.2_Missense_Mutation_p.M1246I|TRPM3_ENST00000396280.5_Missense_Mutation_p.M1091I|TRPM3_ENST00000423814.3_Missense_Mutation_p.M1269I			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGAAGCCTTCATGGAGTGCT	0.617000													9	31					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120844796	120844796	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:120844796C>T	ENST00000378164.2	-	1	307	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	3					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTACACCAGTCAGCGGCATGA	0.527000													9	44					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554184	62554184	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:62554184G>A	ENST00000294168.3	+	11	1486	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	429					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CGCGGGGCCGGAGGACCCTTC	0.677000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48588676	48588676	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:48588676G>A	ENST00000264319.7	-	0	2314				FRYL_ENST00000537810.1_Silent_p.D570D|FRYL_ENST00000506685.1_Silent_p.D276D|FRYL_ENST00000507711.1_Silent_p.D570D|FRYL_ENST00000358350.4_Silent_p.D570D|FRYL_ENST00000503238.1_Silent_p.D570D			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCTCATACCGTCAGGAATCA	0.343000													8	59					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231742151	231742151	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:231742151G>A	ENST00000326427.6	+	5	724	c.598G>A	c.(598-600)Gag>Aag	p.E200K	ITM2C_ENST00000326407.6_Missense_Mutation_p.E163K|ITM2C_ENST00000409704.2_Missense_Mutation_p.E138K|ITM2C_ENST00000335005.6_Missense_Mutation_p.E153K	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	200	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CATCATCCAGGAGGAGATGGT	0.632000													9	18					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960490	37960490	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:37960490C>T	ENST00000559325.1	+	1	328	c.309C>T	c.(307-309)ctC>ctT	p.L103L	EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGGACGCCTCAGCGCCCCCT	0.716000													3	12					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4930090	4930090	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:4930090C>T	ENST00000396658.4	+	17	4065	c.3362C>T	c.(3361-3363)tCt>tTt	p.S1121F	UBN1_ENST00000545171.1_Missense_Mutation_p.S1091F|UBN1_ENST00000590769.1_Missense_Mutation_p.S1091F|UBN1_ENST00000262376.6_Missense_Mutation_p.S1121F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1121					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGGTGCTTCTCAGCTTCAC	0.478000													18	59					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643507	16643507	+	Silent	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:16643507C>G	ENST00000546361.2	-	5	727	c.576G>C	c.(574-576)ctG>ctC	p.L192L	CHERP_ENST00000198939.6_Silent_p.L192L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	192	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCCGGCCATCAGCTCACAGT	0.632000													9	47					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585151	7585151	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:7585151C>T	ENST00000379802.3	+	24	7997	c.7656C>T	c.(7654-7656)ctC>ctT	p.L2552L	DSP_ENST00000418664.2_Silent_p.L1953L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2552	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCGGCAGCCTCAGCCTCACTC	0.483000													26	85					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763114	23763114	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:23763114C>T	ENST00000336689.3	-	16	1554	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	ASAP3_ENST00000437606.2_Missense_Mutation_p.E495K|ASAP3_ENST00000495646.1_Missense_Mutation_p.E8K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	504	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCCATGACCTCATTGAAGCTC	0.582000													13	59					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81599686	81599686	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:81599686G>A	ENST00000327835.3	-	4	564	c.333C>T	c.(331-333)ctC>ctT	p.L111L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	111						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGGATCCGCTGAGGCTCTCTG	0.642000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64537452	64537452	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:64537452C>T	ENST00000358025.3	+	52	10751	c.10521C>T	c.(10519-10521)ctC>ctT	p.L3507L	SYNE2_ENST00000344113.4_Silent_p.L3507L|SYNE2_ENST00000554584.1_Silent_p.L3540L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Silent_p.L141L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3507					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGAACTCTCTGAGCTGC	0.413000													8	45					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48358116	48358116	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:48358116G>A	ENST00000429772.2	+	2	210	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TMEM106C_ENST00000256686.6_Missense_Mutation_p.E33K|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.E33K|TMEM106C_ENST00000449758.2_Missense_Mutation_p.E33K|TMEM106C_ENST00000552561.1_Missense_Mutation_p.E33K|TMEM106C_ENST00000549288.1_Missense_Mutation_p.E33K	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	33						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGAGCAGGAAGAAGCCATTGC	0.567000													5	10					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607344	53607344	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:53607344G>A	ENST00000425354.2	-	8	1441	c.954C>T	c.(952-954)ctC>ctT	p.L318L	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Silent_p.L318L|RARG_ENST00000327550.3_Silent_p.L246L|RARG_ENST00000338561.5_Silent_p.L307L|RARG_ENST00000543726.1_Silent_p.L296L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	318	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGGGGCAGGAGCTGCCCAG	0.652000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48381455	48381455	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:48381455G>A	ENST00000285737.4	+	13	2069	c.1976G>A	c.(1975-1977)gGt>gAt	p.G659D	LONP2_ENST00000535754.1_Missense_Mutation_p.G615D	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	659					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGCAATAGGTTTGGCTTGG	0.512000													13	73					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828703	115828703	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:115828703C>T	ENST00000369512.2	-	3	882	c.714G>A	c.(712-714)gtG>gtA	p.V238V	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	238					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AGGCTCTTCTCACAGCCTTCC	0.552000													9	41					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544139	63544139	+	Silent	SNP	G	G	A	rs146296879	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:63544139G>A	ENST00000299178.2	-	1	583	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	160					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCTGTTGCAGAGTCTTGAGC	0.632000													14	39					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32782295	32782295	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:32782295G>A	ENST00000373548.3	+	3	276	c.192G>A	c.(190-192)atG>atA	p.M64I	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	64	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CTGAGGAGATGACCAAGTACC	0.473000													43	125					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23312545	23312545	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:23312545C>T	ENST00000311852.6	+	5	1029	c.768C>T	c.(766-768)atC>atT	p.I256I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	256						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCTCGGCCATCATGGCACCCT	0.577000													29	63					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169824696	169824696	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:169824696C>T	ENST00000495893.2	-	12	2423	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K	PHC3_ENST00000467570.1_Missense_Mutation_p.E745K|PHC3_ENST00000494943.1_Missense_Mutation_p.E786K	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CCACAGAATTCACACTTGAGC	0.338000													8	25					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039844	184039844	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:184039844T>C	ENST00000342981.4	+	9	1886	c.1472T>C	c.(1471-1473)aTt>aCt	p.I491T	EIF4G1_ENST00000414031.1_Missense_Mutation_p.I451T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I498T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I327T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I404T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I491T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I498T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I451T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I295T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I327T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I404T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I295T|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I491T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I498T	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	491					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTACCCCTATTCCAGCCAAC	0.532000													18	47					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173317332	173317332	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:173317332C>T	ENST00000265085.5	+	1	2050	c.596C>T	c.(595-597)tCg>tTg	p.S199L	CPEB4_ENST00000334035.5_Missense_Mutation_p.S199L|CPEB4_ENST00000520867.1_Missense_Mutation_p.S199L|CPEB4_ENST00000519835.1_Missense_Mutation_p.S199L	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	199							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCTGCTTCGGCTAATAAC	0.512000													13	60					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15823804	15823804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:15823804G>A	ENST00000281172.5	-	4	626	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q64*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q64*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	64					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACACGGTATTGAGATATATCT	0.358000													13	54					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155298023	155298023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:155298023C>T	ENST00000368352.5	+	9	2648	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Nonsense_Mutation_p.Q423*|RUSC1_ENST00000292254.4_Nonsense_Mutation_p.Q364*|RUSC1_ENST00000368349.4_Nonsense_Mutation_p.Q364*|RUSC1_ENST00000368354.3_Nonsense_Mutation_p.Q727*	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	833						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCCTTCTCCTCAGGAGCTTGA	0.547000													37	99					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895771	77895771	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:77895771C>T	ENST00000262198.4	+	4	2930	c.2475C>T	c.(2473-2475)ttC>ttT	p.F825F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	825					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACCTTGATTTCATCACCATAT	0.493000													21	43					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56149890	56149890	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:56149890C>T	ENST00000452681.2	-	8	849	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PHKG1_ENST00000537360.1_Missense_Mutation_p.E148K|PHKG1_ENST00000297373.2_Missense_Mutation_p.E202K	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	202	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGGTGGTCCTCATTCATGGAG	0.617000													16	68					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480191	95480191	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:95480191C>T	ENST00000356884.6	-	6	2213	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	BICD2_ENST00000375512.3_Missense_Mutation_p.E716K	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	716	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTCATTCTCATACTTGCTC	0.562000													8	70					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38104643	38104643	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:38104643G>A	ENST00000261439.4	+	15	2777	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E902K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	808	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACCGAGGTGAAATCTGGAA	0.383000													28	89					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880855	152880855	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:152880855G>A	ENST00000323534.2	+	1	827	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	125					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGGTGAGCGCGAGGTCTCGTA	0.622000													13	22					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15475709	15475709	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:15475709C>T	ENST00000281171.4	+	1	379	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	PTPRO_ENST00000348962.2_Silent_p.L17L|PTPRO_ENST00000543886.1_Silent_p.L17L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	17						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTCCTGCCTCTGCTCTGGCT	0.731000													5	7					0	0	1	0	0
MRPS31P5	100887750	broad.mit.edu	37	13	52768345	52768345	+	RNA	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr13:52768345G>A	ENST00000451298.1	-	0	1229				MRPS31P5_ENST00000416599.1_RNA																							GGGGCACGGGGATGCCCGAGG	0.562000													4	9					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29476272	29476272	+	Silent	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:29476272C>A	ENST00000434693.2	+	2	811	c.111C>A	c.(109-111)ccC>ccA	p.P37P	RBMS3_ENST00000383766.2_Silent_p.P37P|RBMS3_ENST00000456853.1_Silent_p.P38P|RBMS3_ENST00000396583.3_Silent_p.P38P|RBMS3_ENST00000273139.9_Silent_p.P38P|RBMS3_ENST00000383767.2_Silent_p.P38P|RBMS3_ENST00000445033.1_Silent_p.P38P|RBMS3_ENST00000452462.1_Silent_p.P38P	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	38						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCTCCTCCCAGCCCCAGCA	0.542000													22	110					1.87028e-06	1.92163e-06	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													3	66					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256132	84256132	+	Silent	SNP	T	T	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:84256132T>A	ENST00000308251.4	-	3	1319	c.1251A>T	c.(1249-1251)acA>acT	p.T417T		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCCCACCGTTGTCATGGAGA	0.637000													16	45					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32873817	32873817	+	Missense_Mutation	SNP	C	C	T	rs144208852		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:32873817C>T	ENST00000311921.4	+	6	2882	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	ZNF507_ENST00000355898.5_Missense_Mutation_p.S897F|ZNF507_ENST00000544431.1_Missense_Mutation_p.S901F	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S897F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GAAAAAATCTCCAGTCTGGCC	0.428000													22	43					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118568022	118568022	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:118568022C>T	ENST00000336338.5	-	27	3813	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1250						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGGGTTCCTCATCTATAACA	0.443000													18	66					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56319883	56319883	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:56319883G>C	ENST00000309964.4	-	13	1341	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.S364*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.S364*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	364	PAC.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTCTGGCCTTGAATTCCACTG	0.353000													10	33					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45052768	45052768	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:45052768G>C	ENST00000265564.7	+	8	861	c.813G>C	c.(811-813)caG>caC	p.Q271H	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	271					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CCTCCTTGCAGAGTGTTGTGC	0.522000													3	18					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711378	38711378	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:38711378G>A	ENST00000246657.2	-	3	815	c.753C>T	c.(751-753)ctC>ctT	p.L251L	CCR7_ENST00000579344.1_Silent_p.L245L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	251					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGCGTGCCTGGAGCAGGGTGC	0.567000													3	28					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													6	96					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33469525	33469525	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:33469525C>T	ENST00000379471.2	-	5	786	c.699G>A	c.(697-699)ctG>ctA	p.L233L	NOL6_ENST00000455041.2_Silent_p.L173L|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	233					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTGAGGGTTTCAGGTGGCAGC	0.602000													17	72					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751220	6751220	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:6751220C>T	ENST00000230859.6	+	11	1308	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	393					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGCTCCTCTCATGGCCGGCT	0.547000													20	56					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30882629	30882629	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:30882629C>T	ENST00000321897.5	+	1	648	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	VARS2_ENST00000542001.1_Intron|VARS2_ENST00000416670.2_Missense_Mutation_p.L6F|VARS2_ENST00000541562.1_Missense_Mutation_p.L36F			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	6					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCATTTGCCTCTCGCCTCTTT	0.562000													21	64					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60570339	60570339	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:60570339C>G	ENST00000400316.4	+	7	2832	c.1051C>G	c.(1051-1053)Caa>Gaa	p.Q351E	PHLPP1_ENST00000262719.5_Missense_Mutation_p.Q863E	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	863					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.Q350E(1)		endometrium(2)|kidney(2)|lung(13)	17						TGAAAGGAATCAACTGGTCAC	0.388000													16	80					0	0	1	0	0
FAM118B	79607	broad.mit.edu	37	11	126126678	126126678	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:126126678G>A	ENST00000533050.1	+	7	1406	c.913G>A	c.(913-915)Gat>Aat	p.D305N	FAM118B_ENST00000529731.1_Missense_Mutation_p.D229N|FAM118B_ENST00000360194.4_Missense_Mutation_p.D305N	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	305										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTCCTATGGAGATGACTATGC	0.443000													43	176					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110768800	110768800	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:110768800G>T	ENST00000369787.3	+	3	1846	c.1819G>T	c.(1819-1821)Ggc>Tgc	p.G607C	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Splice_Site_p.E607*|KCNC4_ENST00000438661.2_Splice_Site_p.E607*	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	607					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTCCGGAAAGGTATGGCTTC	0.637000													7	26					0.00198382	0.00200925	1	1	0
NPY	4852	broad.mit.edu	37	7	24324971	24324971	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:24324971G>A	ENST00000407573.1	+	3	402	c.112G>A	c.(112-114)Gag>Aag	p.E38K	NPY_ENST00000242152.2_Missense_Mutation_p.E38K|NPY_ENST00000405982.1_Missense_Mutation_p.E38K			P01303	NPY_HUMAN	neuropeptide Y	38					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAACCCGGGCGAGGACGCACC	0.672000													7	31					0	0	1	0	0
PHF6	84295	broad.mit.edu	37	X	133511769	133511769	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:133511769C>G	ENST00000332070.3	+	2	324	c.122C>G	c.(121-123)gCg>gGg	p.A41G	PHF6_ENST00000370800.4_Missense_Mutation_p.A41G|PHF6_ENST00000370803.3_Missense_Mutation_p.A41G|PHF6_ENST00000394292.1_Missense_Mutation_p.A41G|PHF6_ENST00000416404.2_Missense_Mutation_p.A41G|PHF6_ENST00000370799.1_Missense_Mutation_p.A41G	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AAGGTGGCAGCGCACCATAAG	0.398000			"""F, N, Splice, Mis"""		ETP ALL								14	22					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139297290	139297290	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:139297290T>G	ENST00000298537.7	-	9	1400	c.1189A>C	c.(1189-1191)Aaa>Caa	p.K397Q	SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.K420Q|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.K347Q	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	420						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCTATAGATTTAAGGATTTCG	0.483000													4	39					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544092	19544092	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:19544092C>T	ENST00000507958.1	-	11	2266	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	CDH18_ENST00000274170.4_Missense_Mutation_p.E426K|CDH18_ENST00000382275.1_Missense_Mutation_p.E426K|CDH18_ENST00000502796.1_Missense_Mutation_p.E426K|CDH18_ENST00000506372.1_Missense_Mutation_p.E426K|CDH18_ENST00000511273.1_Missense_Mutation_p.E426K			Q13634	CAD18_HUMAN	cadherin 18, type 2	426	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCGTCTTCAACATTGTAG	0.343000													15	25					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40058835	40058835	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:40058835G>A	ENST00000336649.4	+	21	3445	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K	CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1108K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1108K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1143K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1143K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1108K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1143					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGACTGGTGCGAGGTCCGCGA	0.632000													3	13					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139750562	139750562	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:139750562G>A	ENST00000445819.1	+	14	1731	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E561K			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	561	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCCAGCTGTGAACTCCACCT	0.662000													9	103					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114640370	114640370	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:114640370C>T	ENST00000393296.1	-	6	1571	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	SYT6_ENST00000610222.1_Silent_p.E498E|SYT6_ENST00000607941.1_Silent_p.E413E|SYT6_ENST00000609117.1_Silent_p.E413E|SYT6_ENST00000369547.1_Silent_p.E413E			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	498	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCTTTACCTCCACCAAGG	0.587000													6	49					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736434	51736434	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:51736434T>G	ENST00000293636.1	-	4	291	c.251A>C	c.(250-252)gAt>gCt	p.D84A		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	84	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTCAGTGCCATCATTCTGGCT	0.557000													11	58					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225700610	225700610	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:225700610C>T	ENST00000366844.3	-	8	1778	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	ENAH_ENST00000284563.6_Missense_Mutation_p.G690S|ENAH_ENST00000366843.2_Missense_Mutation_p.G443S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)		EVH2 block B.|EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TCCATTAAACCACTACCCCCT	0.443000													28	49					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54361853	54361853	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:54361853C>T	ENST00000254442.3	+	10	1181	c.970C>T	c.(970-972)Cta>Tta	p.L324L	WDR7_ENST00000357574.3_Silent_p.L324L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	324										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGGCAGTTGCTAATTTGTCC	0.308000													4	41					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	131					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7044769	7044769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr18:7044769G>A	ENST00000389658.3	-	7	1021	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	310	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGCTGCTGATGGTACCCA	0.478000													12	112					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756958	122756958	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:122756958G>A	ENST00000245838.8	-	29	3711	c.3680C>T	c.(3679-3681)aCt>aTt	p.T1227I	THOC2_ENST00000491737.1_Missense_Mutation_p.T1112I|THOC2_ENST00000355725.4_Missense_Mutation_p.T1227I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1227					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGCATACCAGTCTCCTCAGT	0.383000													5	26					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158313	38158313	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:38158313C>T	ENST00000308059.6	+	29	4133	c.4112C>T	c.(4111-4113)tCa>tTa	p.S1371L	DLEC1_ENST00000346219.3_Missense_Mutation_p.S1371L|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1374L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1371					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGCTCATCTCAGTCATCCTG	0.582000													3	23					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	880097	880097	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:880097G>A	ENST00000327044.6	-	19	2276	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	743	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAGAGCTGCAGATCCTCCAGC	0.692000													7	8					0	0	1	0	0
MIR518D	574489	broad.mit.edu	37	19	54238165	54238165	+	RNA	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:54238165C>T	ENST00000385014.1	+	0	35					NR_030211.1																						GAAGCACTTTCTGTTGTCTGA	0.438000													29	121					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63510232	63510232	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:63510232C>T	ENST00000389100.4	+	4	1151	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.S360L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	360	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TTCCTGCACTCAGCCAATTTT	0.498000													7	34					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70877218	70877218	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:70877218C>T	ENST00000411986.2	+	1	318	c.120C>T	c.(118-120)ccC>ccT	p.P40P	CTH_ENST00000346806.2_Silent_p.P40P|CTH_ENST00000370938.3_Silent_p.P40P|CTH_ENST00000464926.1_3'UTR	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	40					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TAGTGCCCCCCATCTCACTGT	0.602000													10	30					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31613133	31613133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:31613133G>A	ENST00000389082.5	-	4	1351	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	DENND5B_ENST00000354285.4_Nonsense_Mutation_p.Q385*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.Q398*|DENND5B_ENST00000306833.6_Nonsense_Mutation_p.Q398*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	363	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTACCTCTTGAGGAAGTTCT	0.393000													4	15					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60748944	60748944	+	Missense_Mutation	SNP	T	T	C	rs149006481	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr15:60748944T>C	ENST00000261520.4	-	6	812	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	NARG2_ENST00000561114.1_Missense_Mutation_p.Y193C|NARG2_ENST00000439632.1_Missense_Mutation_p.Y56C	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	193						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GTGGAGAGTATAGAATTCTGA	0.323000													22	59					0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48474155	48474155	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:48474155G>A	ENST00000395694.2	-	4	984	c.899C>T	c.(898-900)tCa>tTa	p.S300L	CCDC51_ENST00000412398.2_Missense_Mutation_p.S191L|CCDC51_ENST00000395696.1_Missense_Mutation_p.S300L|CCDC51_ENST00000447018.1_Missense_Mutation_p.S191L|CCDC51_ENST00000442740.1_Missense_Mutation_p.S191L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	300						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAGGCAGCTGAAAGGACATC	0.537000													21	58					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209353852	209353852	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr2:209353852G>A	ENST00000272847.2	+	11	1405	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	398						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)		CATGCACTGTGAGCTCTTCTT	0.473000													7	19					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56665368	56665368	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:56665368C>G	ENST00000389934.3	-	16	2708	c.2591G>C	c.(2590-2592)aGa>aCa	p.R864T	TEX14_ENST00000349033.5_Missense_Mutation_p.R864T|TEX14_ENST00000240361.8_Missense_Mutation_p.R870T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	870						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)					agtggactctctaggtcttcc	0.438000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066580	73066580	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:73066580C>T	ENST00000263674.3	+	4	3806	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1152	DH.				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCACAGTTCTCCAAGGATG	0.522000													5	28					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672541	43672541	+	Missense_Mutation	SNP	G	G	A	rs141144474		TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:43672541G>A	ENST00000372492.4	+	10	2017	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	WDR65_ENST00000528956.1_Missense_Mutation_p.D565N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	565										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCTCCCCCGATGCCAAAAT	0.522000													34	82					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108175420	108175420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:108175420C>T	ENST00000278616.4	+	37	5900	c.5515C>T	c.(5515-5517)Cag>Tag	p.Q1839*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q1839*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1839					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGACTTTTGTCAGACTGTACT	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			24	36					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245204	46245204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:46245204C>T	ENST00000334344.6	+	15	3470	c.3298C>T	c.(3298-3300)Cag>Tag	p.Q1100*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q951*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q710*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1100	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1100E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTGGTCTATCAGGTGGCCAG	0.532000			"""N, S, F"""		hepatocellular carcinoma								16	57					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108136086	108136086	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:108136086A>C	ENST00000228437.5	-	9	1980	c.1521T>G	c.(1519-1521)gaT>gaG	p.D507E	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	507	SET.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AGATTTTTCCATCATGAGGAT	0.348000													19	60					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871168	170871168	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:170871168C>T	ENST00000392092.2	+	3	623	c.344C>T	c.(343-345)tCa>tTa	p.S115L	TBP_ENST00000230354.6_Missense_Mutation_p.S115L|TBP_ENST00000540980.1_Missense_Mutation_p.S95L	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	115					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CAGGGAACCTCAGGCCAGGCA	0.627000													5	31					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198143	30198143	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:30198143G>C	ENST00000219150.5	+	4	633	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.E110Q|CORO1A_ENST00000565497.1_Missense_Mutation_p.E110Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	110					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCAGGTGTGGGAGATCCCAGA	0.652000													8	35					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183683218	183683218	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:183683218G>A	ENST00000334444.6	-	13	2145	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	ABCC5_ENST00000265586.6_Silent_p.L635L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	635	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGTAGCATTGAGGATCCAGG	0.498000													19	56					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520867	62520867	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr11:62520867C>T	ENST00000394807.3	-	2	545	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	140	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TATCCCCTCTCAGGGTCAGCT	0.547000													20	64					0	0	1	0	0
S100A6	6277	broad.mit.edu	37	1	153507274	153507274	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:153507274C>T	ENST00000368720.2	-	4	473	c.171G>A	c.(169-171)atG>atA	p.M57I	S100A6_ENST00000368719.4_Missense_Mutation_p.M57I|BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_Missense_Mutation_p.M57I			P06703	S10A6_HUMAN	S100 calcium binding protein A6	57	EF-hand 2.				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGTCTTCCATCAGCCTTG	0.502000													12	93					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133941283	133941283	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:133941283G>A	ENST00000296084.4	-	3	326	c.327C>T	c.(325-327)ttC>ttT	p.F109F	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	108	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CATGCCAGGTGAAGTGCAGGA	0.473000													13	65					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38688672	38688672	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:38688672G>A	ENST00000379931.3	+	7	2105	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	TACC1_ENST00000520973.1_Missense_Mutation_p.E340K|TACC1_ENST00000348567.4_Missense_Mutation_p.E126K|TACC1_ENST00000443286.2_Missense_Mutation_p.E551K|TACC1_ENST00000330691.6_Missense_Mutation_p.E138K|TACC1_ENST00000520611.1_Missense_Mutation_p.E2K|TACC1_ENST00000276520.8_Missense_Mutation_p.E154K|TACC1_ENST00000518415.1_Missense_Mutation_p.E490K|TACC1_ENST00000519416.1_Missense_Mutation_p.E368K|TACC1_ENST00000520615.1_Missense_Mutation_p.E369K|TACC1_ENST00000520340.1_Missense_Mutation_p.E499K|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.E564K			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	564					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCAGAAGATGGAAGAAGACGG	0.453000													15	44					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70338701	70338701	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:70338701G>A	ENST00000333646.6	+	1	296	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MED12_ENST00000374102.1_Missense_Mutation_p.E33K|MED12_ENST00000374080.3_Missense_Mutation_p.E33K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	33					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAAACAGAAGGAGGTGCGTTC	0.677000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	5					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152682084	152682084	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr4:152682084G>A	ENST00000263985.6	-	1	91	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PET112_ENST00000508611.1_Silent_p.F17F|PET112_ENST00000515812.1_Silent_p.F17F|PET112_ENST00000512306.1_Silent_p.F17F	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	17						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAACCCGGGCGAAAGCCCAAC	0.637000													7	54					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76251959	76251959	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:76251959G>A	ENST00000319942.3	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	RABGGTB_ENST00000370826.3_Splice_Site_p.M1I|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	1					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGTTAGACATGGTAAGTGTGA	0.582000													20	67					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148869602	148869602	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr6:148869602C>A	ENST00000367467.3	+	20	4127	c.3652C>A	c.(3652-3654)Cag>Aag	p.Q1218K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1218	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CACTTGCCTTCAGGAGGCCGG	0.592000													9	46					0.0477658	0.0479682	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227511	112227511	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:112227511G>A	ENST00000391338.1	+	1	199	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						CACTTTTATTGAAGAACAACA	0.478000													11	56					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93393028	93393028	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr14:93393028G>A	ENST00000216492.5	+	3	452	c.172G>A	c.(172-174)Gag>Aag	p.E58K	CHGA_ENST00000334654.4_Missense_Mutation_p.E58K|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	58	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGAATGTTTTGAGACACTCCG	0.567000													8	37					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658993	52658993	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:52658993C>T	ENST00000322146.8	-	5	2464	c.1943G>A	c.(1942-1944)aGt>aAt	p.S648N	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.S648N	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	648					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						TGAGTAGTAACTGAAAACCTT	0.423000													47	176					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909415	124909415	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr10:124909415C>T	ENST00000339992.3	+	2	855	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GTTCCAGAACCGCCGCAACAA	0.652000													6	16					0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163499	30163499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr22:30163499C>T	ENST00000330029.6	+	1	142	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	UQCR10_ENST00000401406.3_Nonsense_Mutation_p.Q38*	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	38					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CGCCTTCGATCAAGGCGCGGA	0.602000													5	33					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129206342	129206342	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:129206342G>A	ENST00000308167.5	-	5	770	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	ELF4_ENST00000335997.7_Silent_p.L131L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	131	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TAGTTGGGCAGAGTGACAGCT	0.617000			T	ERG	AML								15	7					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127771730	127771730	+	Silent	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:127771730G>A	ENST00000243253.3	+	2	244	c.60G>A	c.(58-60)caG>caA	p.Q20Q	SEC61A1_ENST00000424880.2_5'UTR|SEC61A1_ENST00000464451.1_Silent_p.Q26Q	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	20					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CGGAAATTCAGAAGCCAGAGA	0.428000													7	35					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718740	107718740	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr8:107718740G>A	ENST00000445937.1	+	9	1252	c.991G>A	c.(991-993)Gag>Aag	p.E331K	OXR1_ENST00000497705.1_Missense_Mutation_p.E264K|OXR1_ENST00000531443.1_Missense_Mutation_p.E331K|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.E332K|OXR1_ENST00000312046.6_Missense_Mutation_p.E324K|OXR1_ENST00000517566.2_Missense_Mutation_p.E331K	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	332					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAGGAGCACTGAGGAGTCTCT	0.438000													34	70					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	158					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607000													23	64					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2646528	2646528	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr9:2646528C>T	ENST00000382100.3	+	11	2035	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	VLDLR_ENST00000382099.2_Missense_Mutation_p.S560F|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.S560F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GAGCCTGCCTCCATAGCTGTG	0.463000													8	39					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46321490	46321490	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr21:46321490C>T	ENST00000397850.2	-	7	1110	c.658G>A	c.(658-660)Gag>Aag	p.E220K	ITGB2_ENST00000397857.1_Missense_Mutation_p.E220K|ITGB2_ENST00000397852.1_Missense_Mutation_p.E220K|ITGB2_ENST00000397854.3_Missense_Mutation_p.E163K|ITGB2_ENST00000355153.4_Missense_Mutation_p.E220K|ITGB2_ENST00000302347.5_Missense_Mutation_p.E220K			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	220	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGACCTCGGTCTGAAAC	0.627000													16	59					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358829	6358829	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:6358829C>T	ENST00000262483.8	-	20	2841	c.2754G>A	c.(2752-2754)cgG>cgA	p.R918R	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.R882R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGTTGCGCTTCCGCAGGAACT	0.687000													5	16					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908693	32908693	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:32908693A>C	ENST00000324868.8	-	1	143	c.116T>G	c.(115-117)cTg>cGg	p.L39R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	39					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTGCGCTGCCAGTAACCCCTG	0.592000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	89					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963812	7963812	+	Silent	SNP	C	C	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr19:7963812C>T	ENST00000306708.6	+	3	506	c.405C>T	c.(403-405)ttC>ttT	p.F135F	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	135						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCACCAGTTTCTGGTTCAAGT	0.522000													45	114					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846160	89846171	+	In_Frame_Del	DEL	CTCAGGGAGGGA	CTCAGGGAGGGA	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr1:89846160_89846171delCTCAGGGAGGGA	ENST00000370456.4	+	6	934_945	c.841_852delCTCAGGGAGGGA	c.(841-852)ctcagggagggadel	p.LREG281del	GBP6_ENST00000535065.1_In_Frame_Del_p.LREG151del	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	281							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AACCAAGACCCTCAGGGAGGGAATCACAGTCA	0.396													10	58	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	4	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145540010	145540022	+	Frame_Shift_Del	DEL	GATTAACATCAGT	GATTAACATCAGT	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr5:145540010_145540022delGATTAACATCAGT	ENST00000394434.2	-	7	788_800	c.622_634delACTGATGTTAATC	c.(622-636)actgatgttaatcctfs	p.TDVNP208fs	LARS_ENST00000510191.1_Frame_Shift_Del_p.TDVNP154fs|LARS_ENST00000545646.1_Frame_Shift_Del_p.TDVNP162fs|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Frame_Shift_Del_p.TDVNP181fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	208					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCATAGTAAGGATTAACATCAGTGGTGATGAAG	0.296													9	76	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													3	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46243370	46243389	+	Frame_Shift_Del	DEL	TTTCCAAATCATACAGTGAA	TTTCCAAATCATACAGTGAA	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr12:46243370_46243389delTTTCCAAATCATACAGTGAA	ENST00000334344.6	+	14	1895_1914	c.1723_1742delTTTCCAAATCATACAGTGAA	c.(1723-1743)tttccaaatcatacagtgaagfs	p.FPNHTVK575fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.FPNHTVK426fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.FPNHTVK185fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	575					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGAACGGTCTTTCCAAATCATACAGTGAAGAGAGTGGAG	0.386			"""N, S, F"""		hepatocellular carcinoma								21	69	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67305065	67305066	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr16:67305065_67305066delCG	ENST00000299798.11	+	16	2708_2709	c.2643_2644delCG	c.(2641-2646)accgctfs	p.A882fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	882					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCCCAGGCACCGCTACCTCCCA	0.653													7	15	---	---	---	---					
SLC13A5	284111	broad.mit.edu	37	17	6606418	6606418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:6606418delT	ENST00000433363.2	-	5	820	c.587delA	c.(586-588)cagfs	p.Q196fs	SLC13A5_ENST00000381074.4_Frame_Shift_Del_p.Q153fs|SLC13A5_ENST00000293800.6_Frame_Shift_Del_p.Q179fs|SLC13A5_ENST00000573648.1_Frame_Shift_Del_p.Q196fs	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	196						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TTGGTCTTCCTGCTGCCCCAG	0.647													24	73	---	---	---	---					
CDK3	1018	broad.mit.edu	37	17	73999344	73999371	+	Frame_Shift_Del	DEL	GGGGACACCCAGCGAAGACACATGGCCC	GGGGACACCCAGCGAAGACACATGGCCC	-	rs141477491	byFrequency	TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr17:73999344_73999371delGGGGACACCCAGCGAAGACACATGGCCC	ENST00000425876.2	+	6	745_772	c.657_684delGGGGACACCCAGCGAAGACACATGGCCC	c.(655-684)ctggggacacccagcgaagacacatggcccfs	p.LGTPSEDTWP219fs	CDK3_ENST00000448471.1_Frame_Shift_Del_p.LGTPSEDTWP219fs|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	219	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TTCGTATGCTGGGGACACCCAGCGAAGACACATGGCCCGGGGTCACCC	0.561													11	174	---	---	---	---					
CRNKL1	51340	broad.mit.edu	37	20	20018060	20018060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chr20:20018060delT	ENST00000377340.2	-	14	2317	c.2286delA	c.(2284-2286)gaafs	p.E764fs	CRNKL1_ENST00000377327.4_Frame_Shift_Del_p.E752fs|CRNKL1_ENST00000536226.1_Frame_Shift_Del_p.E603fs|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	764					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E764delE(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAAATTCTTCTTCAAAACTTC	0.398													67	186	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44922824	44922830	+	Frame_Shift_Del	DEL	GCCCTGG	GCCCTGG	-			TCGA-UY-A9PF-01A-11D-A38G-08	TCGA-UY-A9PF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edf74f91-42ba-4c36-8bc3-ee35875cf521	46c21cf6-e0ec-403b-9b10-c4412029e0e1	g.chrX:44922824_44922830delGCCCTGG	ENST00000377967.4	+	16	1726_1732	c.1685_1691delGCCCTGG	c.(1684-1692)tgccctgggfs	p.CPG562fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.CPG569fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.CPG483fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.CPG517fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	562					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CGTCCTGCCTGCCCTGGGCAGCCTTTG	0.541			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								18	15	---	---	---	---