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
PADI6	353238	broad.mit.edu	37	1	17708559	17708559	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:17708559G>A	uc001bak.1	+	5	651	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	209					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAAGAGTCGAAGAAGGCGA	0.522												
HP1BP3	50809	broad.mit.edu	37	1	21071371	21071371	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:21071371A>G	uc001bdy.1	-	11	1681	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc001bdw.1_Silent_p.P527P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	527	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTGGTTGCAGGCTTCTTTG	0.458												
TINAGL1	64129	broad.mit.edu	37	1	32050587	32050587	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:32050587C>T	uc001bta.3	+	6	933	c.807C>T	c.(805-807)ggC>ggT	p.G269G	TINAGL1_uc010ogj.2_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G|TINAGL1_uc021oko.1_Silent_p.G164G	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	269					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGCAGCAGGGCTGCCGCGGTG	0.627												
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:67301382C>T	uc001dcx.3	-	10	1716	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363												
BARHL2	343472	broad.mit.edu	37	1	91182597	91182597	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:91182597A>G	uc001dns.3	-	0	198	c.156T>C	c.(154-156)tgT>tgC	p.C52C		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	52						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAATCTCCGAACAGGGAGATG	0.607												
HSD3B1	3283	broad.mit.edu	37	1	120056674	120056674	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:120056674C>T	uc001ehv.1	+	3	673	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	176					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATCTGAAAAACGGCGGCACCC	0.507												
PDE4DIP	9659	broad.mit.edu	37	1	144859794	144859794	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859794C>G	uc021ouh.1	-	37	6592	c.6290G>C	c.(6289-6291)aGc>aCc	p.S2097T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S2097T|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1104T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2097					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCAGTGCTGGCTGGGAA	0.577			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144859988	144859988	+	Silent	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859988C>G	uc021ouh.1	-	37	6398	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2032L|PDE4DIP_uc001elx.4_Silent_p.L1926L|PDE4DIP_uc001elv.4_Silent_p.L1039L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2032					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGGCATCCAGGCTGTAAG	0.527			T	PDGFRB	MPD							
ADAMTSL4	54507	broad.mit.edu	37	1	150530495	150530495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:150530495G>A	uc009wlw.3	+	13	2479	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	ADAMTSL4_uc001euw.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	751	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCAGTGCCGGCAGGAATTT	0.706												
FCGR3A	2214	broad.mit.edu	37	1	161518335	161518335	+	Silent	SNP	G	G	A	rs145248243		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:161518335G>A	uc001gar.3	-	2	487	c.303C>T	c.(301-303)agC>agT	p.S101S	FCGR3A_uc001gas.3_Silent_p.S100S|FCGR3A_uc001gat.4_Silent_p.S65S|FCGR3A_uc009wuh.3_Silent_p.S64S|FCGR3A_uc009wui.3_Silent_p.S65S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	65	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGAGATGAGGCTCTCATTGT	0.552												
GORAB	92344	broad.mit.edu	37	1	170521169	170521169	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:170521169A>G	uc001gha.2	+	4	778	c.751A>G	c.(751-753)Agg>Ggg	p.R251G	GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	251	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGTTTGACAGGGCTGAAGC	0.398												
PAPPA2	60676	broad.mit.edu	37	1	176563936	176563936	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:176563936T>C	uc001gkz.3	+	2	2360	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	399					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACAGCCCCTTCATGGCATCT	0.592												
ANGPTL1	9068	broad.mit.edu	37	1	178822880	178822880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:178822880G>A	uc001gma.3	-	3	1342	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	289	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCCACTGACCGAATGCCCAGC	0.373												
KIAA1614	57710	broad.mit.edu	37	1	180914469	180914469	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:180914469C>T	uc001gok.2	+	8	3385	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_Non-coding_Transcript	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	1106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGTGCCCTCAGTGTGGAGG	0.662												
LAMB3	3914	broad.mit.edu	37	1	209796522	209796522	+	Silent	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:209796522G>T	uc001hhg.3	-	15	2751	c.2361C>A	c.(2359-2361)ctC>ctA	p.L787L	LAMB3_uc009xco.3_Silent_p.L787L|LAMB3_uc001hhh.3_Silent_p.L787L|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	787	Domain alpha.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTTGCCACAGAGCTGTGGAC	0.572												
TRIM58	25893	broad.mit.edu	37	1	248039229	248039229	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:248039229C>T	uc001ido.3	+	5	947	c.899C>T	c.(898-900)gCg>gTg	p.A300V	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	300	B30.2/SPRY.					intracellular	zinc ion binding	p.T299T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGCCACGGCGCACCCGAGT	0.552												
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:89692893C>T	uc001kfb.3	+	4	1409	c.377C>T	c.(376-378)gCt>gTt	p.A126V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	126	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
DUX4L3	653544	broad.mit.edu	37	10	135491165	135491165	+	Missense_Mutation	SNP	C	C	T	rs148925759	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:135491165C>T	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.A259V|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GTGCCCTGCGCGCCTGGGGCT	0.771												
PDE3B	5140	broad.mit.edu	37	11	14839801	14839801	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:14839801G>A	uc001mln.3	+	5	1948	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	PDE3B_uc010rcr.2_Missense_Mutation_p.R481Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	532					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R532Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAACTAATCGATCACCCATA	0.388												
OR5T3	390154	broad.mit.edu	37	11	56020021	56020021	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:56020021C>T	uc010rjd.2	+	0	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F115F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGTCAATTTCCTGGCAAAAAA	0.368												
SHANK2	22941	broad.mit.edu	37	11	70319235	70319235	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:70319235C>T	uc001oqc.3	-	21	5203	c.5091G>A	c.(5089-5091)tcG>tcA	p.S1697S	SHANK2_uc010rqn.2_Silent_p.S1173S|SHANK2_uc001opz.3_Silent_p.S1168S|BC127192_uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.3_Silent_p.S99S|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1384					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGGGATGGCGACCTACTGC	0.537												
KRTAP5-10	387273	broad.mit.edu	37	11	71276821	71276910	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	rs71473841	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	uc001oqt.1	+	0	213_302	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc	p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	64	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G69C(2)|p.K81K(2)|p.G65S(2)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC	0.676												
SLCO2B1	11309	broad.mit.edu	37	11	74876887	74876887	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:74876887G>A	uc001owb.3	+	3	736	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Missense_Mutation_p.R92Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	114					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGGGTGCACCGACCCCGAATG	0.572												
DRD2	1813	broad.mit.edu	37	11	113286210	113286210	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:113286210C>T	uc001pnz.3	-	3	977	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DRD2_uc010rwv.2_Missense_Mutation_p.R218H|DRD2_uc001poa.4_Missense_Mutation_p.R219H|DRD2_uc001pob.4_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	219	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.R219C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCGCTTGCGGCGTCTGCGGAG	0.572												
GDF3	9573	broad.mit.edu	37	12	7842975	7842975	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:7842975G>A	uc001qte.3	-	1	630	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	198					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473												
ERP27	121506	broad.mit.edu	37	12	15070213	15070213	+	Missense_Mutation	SNP	C	C	T	rs139573344	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:15070213C>T	uc001rco.3	-	4	496	c.475G>A	c.(475-477)Gta>Ata	p.V159I		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	159						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATCTGAATTACGCTGTTGAAT	0.453												
CPSF6	11052	broad.mit.edu	37	12	69645041	69645041	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:69645041G>C	uc001sut.4	+	1	303	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R	CPSF6_uc001suu.4_Missense_Mutation_p.G65R	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	65					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGATGATGTGGGTAAAGGAGC	0.378												
KIAA1033	23325	broad.mit.edu	37	12	105514968	105514968	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:105514968G>T	uc010swr.2	+	8	738	c.651G>T	c.(649-651)tgG>tgT	p.W217C	KIAA1033_uc001tld.3_Missense_Mutation_p.W217C|KIAA1033_uc010sws.2_Missense_Mutation_p.W29C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	217					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGACCACTGGACTATGTACA	0.299												
WSCD2	9671	broad.mit.edu	37	12	108603905	108603905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:108603905C>A	uc001tms.3	+	3	1249	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	WSCD2_uc001tmt.3_Missense_Mutation_p.L169M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	169	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGGGGTTACCTGTATGGCGG	0.647												
TMEM132D	121256	broad.mit.edu	37	12	129563144	129563144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:129563144G>A	uc009zyl.1	-	7	2378	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	TMEM132D_uc001uia.2_Missense_Mutation_p.P222S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	684						integral to membrane		p.P684A(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGCTTCCTGGGCTGAGCTGC	0.577												
ANKLE2	23141	broad.mit.edu	37	12	133306704	133306704	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:133306704C>G	uc001ukx.2	-	10	2111	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	682						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGTCTGCCTCCTGCTCCAAG	0.572												
SLC39A2	29986	broad.mit.edu	37	14	21469493	21469493	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr14:21469493C>T	uc001vyr.3	+	3	877	c.685C>T	c.(685-687)Cta>Tta	p.L229L	SLC39A2_uc001vys.3_Silent_p.L130L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	229						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTCTCCATACTATTATTAGC	0.567												
C15orf2	23742	broad.mit.edu	37	15	24921103	24921103	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:24921103G>A	uc001ywo.3	+	0	563	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCCTGTCCCGGGACGCCTCC	0.706												
CHRNB4	1143	broad.mit.edu	37	15	78917630	78917630	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78917630C>T	uc002bed.1	-	5	1454	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	CHRNB4_uc002bee.1_Silent_p.S121S|AX748237_uc002bef.1_5'Flank	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	448					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CAGTCCTCAACGACCTGCAGG	0.607												
CHRNB4	1143	broad.mit.edu	37	15	78922161	78922161	+	Silent	SNP	G	G	A	rs80249872		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78922161G>A	uc002bed.1	-	4	598	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	162					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCTGCTGGTCGAAGGGAAAGT	0.552												
SEPT12	124404	broad.mit.edu	37	16	4833669	4833669	+	Missense_Mutation	SNP	C	C	T	rs140969211		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:4833669C>T	uc002cxq.3	-	5	875	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	SEPT12_uc002cxr.3_Missense_Mutation_p.R158Q|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	204					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GAAGGCCTCTCGCTCCTCCAT	0.677												
ITGAD	3681	broad.mit.edu	37	16	31435264	31435264	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:31435264C>T	uc010cap.1	+	26	3196	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	ITGAD_uc002ebv.1_Silent_p.F1048F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1048					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTCAGTTTCGGCTGGGTCC	0.642												
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:49407930G>A	uc002efr.3	+	0	123	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512												
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542												
NF1	4763	broad.mit.edu	37	17	29588751	29588751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:29588751C>T	uc002hgg.3	+	34	4983	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1534					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1534*(6)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTGGAAGACGACCTTTTGA	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT25	147183	broad.mit.edu	37	17	38904633	38904633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:38904633C>T	uc002hve.3	-	7	1310	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	417	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATGGCTTTGGCTGGGTCTGAG	0.348												
RAD51C	5889	broad.mit.edu	37	17	56809897	56809897	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:56809897C>G	uc002iwu.3	+	7	1060	c.1018C>G	c.(1018-1020)Caa>Gaa	p.Q340E	RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	340					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.Q340K(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTGTTTCAAATCAAAGT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2			
BAHCC1	57597	broad.mit.edu	37	17	79412126	79412126	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:79412126C>T	uc002kaf.2	+	7	2571	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	BAHCC1_uc002kae.2_Silent_p.L118L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	919	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CGGGCCAGCTCCCTGTGTACT	0.697												
LAMA1	284217	broad.mit.edu	37	18	7011448	7011448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:7011448G>A	uc002knm.3	-	24	3632	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C	LAMA1_uc010wzj.2_Missense_Mutation_p.R656C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1180	Laminin IV type A 2.				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)	GAAACCACACGCAGAAGAGGC	0.552												
MIB1	57534	broad.mit.edu	37	18	19358097	19358097	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:19358097G>A	uc002ktq.3	+	4	670	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	224					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCCAAGGGAGGTTCTTTCTA	0.403												
DSG3	1830	broad.mit.edu	37	18	29039054	29039054	+	Missense_Mutation	SNP	C	C	T	rs62095186		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:29039054C>T	uc002kws.3	+	4	540	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	144	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATACTAACGGTTAAAATT	0.358												
RPSA	388524	broad.mit.edu	37	19	24010322	24010322	+	Missense_Mutation	SNP	G	G	A	rs13343419	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:24010322G>A	uc002nrn.3	+	3	782	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	120					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGGGAGCCACGGCTTCTTGTG	0.552												
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:53856702G>A	uc010ydv.1	+	3	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363												
APOB	338	broad.mit.edu	37	2	21232448	21232448	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:21232448T>C	uc002red.3	-	25	7420	c.7292A>G	c.(7291-7293)gAt>gGt	p.D2431G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2431					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTGGTAATCAAATGACTT	0.343												
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507												
GCC2	9648	broad.mit.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:109087914delT	uc002tec.3	+	5	2283	c.2129delT	c.(2128-2130)gttfs	p.V710fs	GCC2_uc002ted.3_Frame_Shift_Del_p.V609fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	710					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATTTGGAGGTTTTTTTGTCT	0.299												
COL6A1	1291	broad.mit.edu	37	21	47423347	47423347	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr21:47423347G>A	uc002zhu.1	+	34	2609	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	COL6A1_uc002zhv.1_Missense_Mutation_p.G167D	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	836	C-terminal globular domain.|VWFA 3.			DGSAS -> EPPPD (in Ref. 1; CAA33889).	axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTGCTGGACGGCTCCGCCAGC	0.692												
SLC5A4	6527	broad.mit.edu	37	22	32628993	32628993	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:32628993T>G	uc003ami.3	-	8	916	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	305					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGACATGTCCTTGCCACACAG	0.557												
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:42523567T>C	uc003bce.3	-	6	1145	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.3_Missense_Mutation_p.H301R	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	352							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.L352L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGGGCATGTGAGCCTGGTC	0.592												
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:51041769_51041771delGAG	uc003bmx.3	+	2	406_408	c.289_291delGAG	c.(289-291)gagdel	p.E103del	MAPK8IP2_uc003bmy.3_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	103	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631												
ZNF717	100131827	broad.mit.edu	37	3	75790814	75790814	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:75790814C>T	uc011bgi.2	-	2	454	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	44					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTACAGGGTCCTCTGAGCATC	0.522												
EEFSEC	60678	broad.mit.edu	37	3	127981028	127981028	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:127981028C>T	uc003eki.3	+	2	620	c.582C>T	c.(580-582)ccC>ccT	p.P194P		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	194						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CAGAGGCCCCCGAAACTGAAG	0.562												
INTU	27152	broad.mit.edu	37	4	128564761	128564761	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr4:128564761C>G	uc003ifk.2	+	1	335	c.232C>G	c.(232-234)Ctc>Gtc	p.L78V	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	78										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGAAGAAAGCCTCCTTCCTGA	0.393												
ELOVL7	79993	broad.mit.edu	37	5	60060144	60060144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:60060144G>A	uc003jsi.4	-	6	609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ELOVL7_uc011cqo.2_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.3_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R124C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	137					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTTTCTTGCGCAGAACAAAA	0.348												
PCDHGC5	56112	broad.mit.edu	37	5	140725076	140725076	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140725076C>T	uc003ljm.2	+	0	1476	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T492T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATTGACCGAGGACACTC	0.542												
PCDHGC5	56109	broad.mit.edu	37	5	140755737	140755737	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140755737C>T	uc003ljy.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A696V	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672												
FAT2	2196	broad.mit.edu	37	5	150942915	150942915	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:150942915A>G	uc003lue.4	-	1	3558	c.3545T>C	c.(3544-3546)aTg>aCg	p.M1182T	FAT2_uc010jhx.1_Missense_Mutation_p.M1182T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1182	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAATCCCATGTAGTTCCC	0.512												
LARP1	23367	broad.mit.edu	37	5	154135677	154135677	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:154135677C>T	uc003lvo.3	+						LARP1_uc021ygh.1_Intron|LARP1_uc021ygi.1_Silent_p.P120P|LARP1_uc010jie.1_5'Flank	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.								protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAAGCCCCCCCGCCCAAGG	0.736												
GPR116	221395	broad.mit.edu	37	6	46826522	46826522	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:46826522A>T	uc003oyo.3	-	16	3407	c.3118T>A	c.(3118-3120)Tcg>Acg	p.S1040T	GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1040					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCACCGATTTCCACACC	0.507												
MANEA	79694	broad.mit.edu	37	6	96054014	96054014	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:96054014G>A	uc003poo.2	+	4	1302	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	374	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAACACTCGGAACCGAATCA	0.408												
SLC22A16	85413	broad.mit.edu	37	6	110768146	110768146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:110768146delA	uc003puf.3	-	2	648	c.581delT	c.(580-582)ttgfs	p.L194fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.L175fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	194					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TATTCCAAACAAAAACATGCT	0.433												
OLIG3	167826	broad.mit.edu	37	6	137815222	137815222	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:137815222T>C	uc003qhp.1	-	0	310	c.86A>G	c.(85-87)cAc>cGc	p.H29R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	29	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggtggcggtggtg	0.577												
REPS1	85021	broad.mit.edu	37	6	139266737	139266737	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:139266737C>T	uc003qii.3	-	2	954	c.375G>A	c.(373-375)tcG>tcA	p.S125S	REPS1_uc003qig.4_Silent_p.S125S|REPS1_uc011edr.2_Silent_p.S125S|REPS1_uc003qij.3_Silent_p.S125S|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	125						coated pit|plasma membrane	calcium ion binding|SH3 domain binding	p.H124N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACCAGAATACGACCCTTGAT	0.483												
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:82580167C>T	uc003uhx.2	-	5	10026	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(3)|p.R3246R(1)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473												
ABCB1	5243	broad.mit.edu	37	7	87174224	87174224	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:87174224G>C	uc003uiz.2	-	16	2472	c.1979C>G	c.(1978-1980)tCc>tGc	p.S660C	ABCB1_uc011khc.2_Missense_Mutation_p.S596C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	660					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATTAGACTGGATCTTGAATC	0.388												
COL1A2	1278	broad.mit.edu	37	7	94039107	94039107	+	Missense_Mutation	SNP	G	G	A	rs67865220		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:94039107G>A	uc003ung.1	+	18	1480	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	337			G -> C (in OI3).|G -> S (in OI3).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGCCGGTGCTACTGG	0.557										HNSCC(75;0.22)		
C7orf43	55262	broad.mit.edu	37	7	99753440	99753440	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99753440G>A	uc003utr.3	-	8	1429	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	C7orf43_uc010lgo.3_Silent_p.L43L|C7orf43_uc010lgp.3_Silent_p.L39L|C7orf43_uc011kjj.2_Silent_p.L185L|C7orf43_uc003uts.3_Silent_p.L148L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	417										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCACACAGCTGCTTTCCT	0.612												
ZCWPW1	55063	broad.mit.edu	37	7	99998739	99998739	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99998739C>T	uc003uut.3	-	17	2093	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ZCWPW1_uc011kjq.2_Silent_p.E495E|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.E444E|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	615							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGAGTTGCTCCAGGTCCA	0.612												
MUC17	140453	broad.mit.edu	37	7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:100677675C>T	uc003uxp.1	+	2	3031	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	993	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.512												
OR2A25	392138	broad.mit.edu	37	7	143772171	143772171	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:143772171C>T	uc011ktx.2	+	0	859	c.859C>T	c.(859-861)Cta>Tta	p.L287L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTTAATCCCCTAATTTATAG	0.413												
DEPTOR	64798	broad.mit.edu	37	8	121021282	121021282	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:121021282G>A	uc003yow.4	+	7	1198	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	DEPTOR_uc011lid.2_Silent_p.A236A	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	337	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGGTGACGCGGTTGGCTGGG	0.542												
FAM83H	286077	broad.mit.edu	37	8	144808270	144808270	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:144808270G>A	uc003yzk.3	-	4	3430	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1121					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)			TCCATGCGGCGCAGCAGCCGA	0.677												
TAF1L	138474	broad.mit.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	rs147409173		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:32633525G>A	uc003zrg.1	-	0	2143	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	685					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R685C(2)|p.R685L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448												
STRBP	55342	broad.mit.edu	37	9	125909182	125909182	+	Silent	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:125909182T>C	uc004bns.3	-	12	1732	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E	STRBP_uc004bnt.3_Silent_p.E248E|STRBP_uc004bnu.3_Silent_p.E416E|STRBP_uc004bnv.3_Silent_p.E430E	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	430	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCTGAGGCTTCATATGTTG	0.433												
FAM47A	158724	broad.mit.edu	37	X	34150044	34150044	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:34150044C>T	uc004ddg.3	-	0	404	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	118								p.V118I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547												
ZNF711	7552	broad.mit.edu	37	X	84526085	84526085	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:84526085G>A	uc004eeq.3	+	9	2561	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413												
