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
CASZ1	54897	broad.mit.edu	37	1	10699777	10699777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:10699777C>T	uc001aro.3	-	20	4822	c.4502G>A	c.(4501-4503)tGc>tAc	p.C1501Y		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1501				C -> R (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAAGTGGCAGCTGAGTGA	0.657												
NCDN	23154	broad.mit.edu	37	1	36026428	36026431	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:36026428_36026431delAGTG	uc001bza.3	+	3	803_806	c.676_679delAGTG	c.(676-681)agtgagfs	p.S226fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.S209fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	226					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTTCCA	0.642												
TOE1	114034	broad.mit.edu	37	1	45807217	45807217	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:45807217C>G	uc009vxq.3	+	3	892	c.309C>G	c.(307-309)gcC>gcG	p.A103A	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	103						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCCTCGCCTGCTTCAAGC	0.562												
MCOLN3	55283	broad.mit.edu	37	1	85491656	85491656	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:85491656A>G	uc001dkp.3	-	8	1208	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Missense_Mutation_p.I199T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	354						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATTGATCCAATGATTGTCAA	0.303												
HFM1	164045	broad.mit.edu	37	1	91739356	91739356	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:91739356T>C	uc001doa.4	-	33	3784	c.3685A>G	c.(3685-3687)Ata>Gta	p.I1229V	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.I908V|HFM1_uc001dob.4_Missense_Mutation_p.I417V|HFM1_uc010osv.1_Missense_Mutation_p.I913V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1229							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAGATATGTTTAAATAT	0.284												
DPYD	1806	broad.mit.edu	37	1	97847978	97847978	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:97847978C>A	uc001drv.3	-	14	2082	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	649					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCCGTCCAGTCATTTTTATTG	0.279												
RORC	6097	broad.mit.edu	37	1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:151787517C>T	uc001ezh.3	-	4	791	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_uc001ezg.3_Missense_Mutation_p.R207Q|RORC_uc010pdo.2_Missense_Mutation_p.R282Q|RORC_uc010pdp.2_Missense_Mutation_p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612												
NTRK1	4914	broad.mit.edu	37	1	156849919	156849919	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:156849919G>A	uc001fqh.1	+	15	2231	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	725	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTACGGCAAGCAGCCCTGGT	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)		
DEDD	9191	broad.mit.edu	37	1	161094314	161094314	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:161094314G>A	uc009wty.3	-	1					NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_5'UTR|DEDD_uc001fya.3_5'UTR|DEDD_uc001fyb.3_5'UTR|DEDD_uc010pkb.2_5'UTR	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.						apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AATCCCCACCGTACTGAAAGG	0.562												
MMRN2	79812	broad.mit.edu	37	10	88703548	88703548	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:88703548G>A	uc001kea.3	-	5	1120	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	331						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTCCACATCGGCTTGGAGCT	0.622												
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:89717715_89717716insA	uc001kfb.3	+	6	1772_1773	c.740_741insA	c.(739-741)ttafs	p.L247fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 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.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(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)		CCTCAGCCGTTACCTGTGTGTG	0.406		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)		
ART1	417	broad.mit.edu	37	11	3681258	3681258	+	Missense_Mutation	SNP	G	G	A	rs141732093		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:3681258G>A	uc001lye.1	+	2	610	c.509G>A	c.(508-510)cGt>cAt	p.R170H	ART1_uc009yeb.1_Missense_Mutation_p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	170					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCGGCCAGCGTCCACCCCGG	0.701												
OR10A3	26496	broad.mit.edu	37	11	7960954	7960954	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:7960954G>A	uc010rbi.2	-	0	114	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCCATCAGGGTCACCACAT	0.473												
CALCA	796	broad.mit.edu	37	11	14991572	14991572	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:14991572C>T	uc001mlv.1	-	2	187	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CALCA_uc001mlt.2_Missense_Mutation_p.E46K|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	46					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)	AGGCGCGCTTCGTCCTCACTG	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYT13	57586	broad.mit.edu	37	11	45274024	45274024	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:45274024G>A	uc001myq.2	-	3	920	c.794C>T	c.(793-795)aCa>aTa	p.T265I	SYT13_uc009yku.1_Missense_Mutation_p.T121I	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	265						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCACAGATGTCCCGTCCAG	0.647											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR8K3	219473	broad.mit.edu	37	11	56086116	56086116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:56086116delC	uc010rjf.2	+	0	334	c.334delC	c.(334-336)cttfs	p.L112fs		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378												
TCN1	6947	broad.mit.edu	37	11	59629066	59629066	+	Missense_Mutation	SNP	C	C	T	rs77116206	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:59629066C>T	uc001noj.2	-	3	588	c.490G>A	c.(490-492)Gcc>Acc	p.A164T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	164					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAACTTCGGCGGTTGAGTAG	0.453												
MTA2	9219	broad.mit.edu	37	11	62364206	62364206	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:62364206C>T	uc001ntq.2	-	8	1175	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	262					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CATCTCATCCCGACACAGCAC	0.542												
SF1	7536	broad.mit.edu	37	11	64537728	64537728	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:64537728T>C	uc001obb.2	-	4	841	c.389_splice	c.e4+1	p.K130_splice	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Splice_Site_p.K104_splice|SF1_uc001oaz.2_Splice_Site_p.K255_splice|SF1_uc001oba.2_Splice_Site_p.K130_splice|SF1_uc001obd.2_Splice_Site_p.K130_splice|SF1_uc001obc.2_Splice_Site_p.K130_splice|SF1_uc001obe.2_Splice_Site_p.K15_splice|SF1_uc010rno.2_Splice_Site_p.K15_splice	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	130					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCCGCTTACTTGTAATCTGC	0.532												
USP35	57558	broad.mit.edu	37	11	77921629	77921629	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:77921629A>C	uc021qny.1	+	9	3084	c.2728A>C	c.(2728-2730)Acc>Ccc	p.T910P	USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.3_Missense_Mutation_p.T478P|USP35_uc010rsp.2_Missense_Mutation_p.T342P|USP35_uc001ozd.3_Missense_Mutation_p.T521P|USP35_uc001ozf.3_Missense_Mutation_p.T641P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	910					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAACGTCACCTCCTTCTT	0.572												
MMP13	4322	broad.mit.edu	37	11	102822866	102822866	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:102822866C>T	uc001phl.3	-	4	703	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	225					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G225F(2)|p.F224F(2)|p.G225V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAAGGAGTGGCCGAACTCATG	0.443												
DDX11L11	100887824	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572												
IQSEC3	440073	broad.mit.edu	37	12	247574	247574	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:247574C>T	uc001qhw.2	+	3	1045	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	349					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGCCTGCCACGGCGGATCTC	0.667												
CLEC4C	170482	broad.mit.edu	37	12	7898972	7898972	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:7898972C>T	uc001qtg.1	-	1	253	c.79G>A	c.(79-81)Gta>Ata	p.V27I	CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	27					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAGATGGATACGACTGCCATG	0.483												
C12orf51	283450	broad.mit.edu	37	12	112605619	112605619	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:112605619T>A	uc021reb.1	-	71	12306	c.11910_splice	c.e71+1	p.K3970_splice		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCTGCCTACCTTGTTCTTATT	0.617												
POLE2	5427	broad.mit.edu	37	14	50120778	50120778	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr14:50120778G>A	uc001wwu.3	-	14	1318	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Missense_Mutation_p.L95F|POLE2_uc021rsr.1_Missense_Mutation_p.L355F|POLE2_uc010ano.3_Missense_Mutation_p.L381F	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	381					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.P380S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTTCAGCAAGTGGTGGCCTA	0.294												
MYO9A	4649	broad.mit.edu	37	15	72195395	72195395	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:72195395T>C	uc002atl.4	-	21	3360	c.2887A>G	c.(2887-2889)Agc>Ggc	p.S963G	MYO9A_uc010biq.3_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	963	Myosin head-like 2.				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						TGGAAGTGGCTCACAAAATCC	0.269												
IL16	3603	broad.mit.edu	37	15	81598457	81598457	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:81598457C>G	uc021ssh.1	+	15	3730	c.3629C>G	c.(3628-3630)aCt>aGt	p.T1210S	IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.T1252S|IL16_uc002bgg.3_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.3_Missense_Mutation_p.T704S|IL16_uc021ssi.1_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1210					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AACTCCTCCACTGACTCTGCA	0.562												
HS3ST6	64711	broad.mit.edu	37	16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:1961835C>T	uc002cnf.3	-	1	692	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	231								p.R231H(3)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667												
CLUAP1	23059	broad.mit.edu	37	16	3554767	3554767	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3554767A>G	uc002cvk.1	+	1	175	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	24						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ACATATTTCTATGGAAAATTT	0.408												
CREBBP	1387	broad.mit.edu	37	16	3790494	3790494	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3790494G>A	uc002cvv.3	-	23	4243	c.4039C>T	c.(4039-4041)Cgg>Tgg	p.R1347W	CREBBP_uc002cvw.3_Missense_Mutation_p.R1309W	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1347	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCTGGCGCCGCAAAAATTTG	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
PLCG2	5336	broad.mit.edu	37	16	81891938	81891938	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:81891938G>A	uc002fgt.3	+	3	586	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_uc010chg.1_Silent_p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	136					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478												
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	G	rs67185453		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:7577535C>G	uc002gim.2	-	6	940	c.746G>C	c.(745-747)aGg>aCg	p.R249T	TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.3_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate							
GATA6	2627	broad.mit.edu	37	18	19762767	19762767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr18:19762767G>A	uc002ktt.1	+	4	1743	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	493					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACCAGGAAACGAAAACCTAAG	0.313												
CREB3L3	84699	broad.mit.edu	37	19	4168400	4168400	+	Missense_Mutation	SNP	C	C	T	rs147422200	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:4168400C>T	uc002lzl.3	+	5	883	c.767C>T	c.(766-768)tCg>tTg	p.S256L	CREB3L3_uc002lzm.3_Missense_Mutation_p.S246L|CREB3L3_uc010xib.2_Missense_Mutation_p.S245L|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	256					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCAGTCGGCGCAAGAA	0.532												
RAVER1	125950	broad.mit.edu	37	19	10434119	10434119	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:10434119C>T	uc002moa.3	-	3	1011	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	294	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAAGGAGACTCGCAGGTGG	0.716												
GATAD2A	54815	broad.mit.edu	37	19	19576172	19576172	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:19576172C>T	uc010xqt.2	+	1	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Silent_p.C25C|GATAD2A_uc010xqw.2_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	6					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						AAGAAGCATGCCGAACACGGA	0.473												
PLEKHG2	64857	broad.mit.edu	37	19	39908646	39908646	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:39908646C>G	uc010xuz.2	+	8	1309	c.984C>G	c.(982-984)ccC>ccG	p.P328P	PLEKHG2_uc010xuy.2_Silent_p.P269P|PLEKHG2_uc002olj.3_Silent_p.P328P|PLEKHG2_uc010xva.2_Silent_p.P135P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	328	PH.				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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGTGGCCCCCGGCTACGAG	0.662												
KLK5	25818	broad.mit.edu	37	19	51453308	51453308	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:51453308G>A	uc002pue.3	-	3	356	c.138C>T	c.(136-138)agC>agT	p.S46S	KLK5_uc002puf.3_Silent_p.S46S|KLK5_uc002pug.3_Silent_p.S46S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	46				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.S46C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTCCTGGTTGCTCCCAGAGG	0.612												
SUCLG1	8802	broad.mit.edu	37	2	84676841	84676841	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:84676841C>T	uc002son.3	-	1	326	c.133G>A	c.(133-135)Gct>Act	p.A45T	SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	45					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCGAGAAGCTGTGTAGGAA	0.299												
C2orf55	343990	broad.mit.edu	37	2	99412664	99412664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:99412664C>T	uc002szf.1	-	8	2962	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	890										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CGGTCCACAGCGGGCTTCACA	0.498												
PCDP1	200373	broad.mit.edu	37	2	120362804	120362805	+	Frame_Shift_Ins	INS	-	-	CACT			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:120362804_120362805insCACT	uc002tmb.3	+	11	1326_1327	c.214_215insCACT	c.(214-216)gcafs	p.A72fs	PCDP1_uc010yyq.2_Frame_Shift_Ins_p.A202fs	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	358						cilium	calmodulin binding					Colorectal(110;0.196)					GATGAAGGAGGCACTCTTTGAA	0.386												
THSD7B	80731	broad.mit.edu	37	2	137928455	137928455	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:137928455G>T	uc002tva.1	+	5	1577	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416V	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522												
GFRA4	64096	broad.mit.edu	37	20	3641311	3641311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:3641311delC	uc002wio.3	-	2	589	c.589delG	c.(589-591)gcafs	p.A197fs	GFRA4_uc002win.3_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	197						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						GCGGTGCCTGCGGGGACCCTG	0.731												
PROKR2	128674	broad.mit.edu	37	20	5283350	5283350	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:5283350C>T	uc010zqw.2	-	1	499	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PROKR2_uc010zqx.2_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.2_Missense_Mutation_p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	164			R -> Q (in KAL3).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAATTCATCCGTGGTTTCAA	0.493										HNSCC(71;0.22)		
TFAP2C	7022	broad.mit.edu	37	20	55206728	55206728	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:55206728C>A	uc002xya.3	+	1	759	c.516C>A	c.(514-516)caC>caA	p.H172Q	TFAP2C_uc010zzi.2_Missense_Mutation_p.H3Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	172					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATGCCTCACCAGATGGACG	0.711												
TMPRSS15	5651	broad.mit.edu	37	21	19698772	19698772	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr21:19698772G>T	uc002ykw.3	-	15	1929	c.1898C>A	c.(1897-1899)aCt>aAt	p.T633N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	633	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTGATAGCCAGTAGTAAAGTT	0.438												
ADAMTS9	56999	broad.mit.edu	37	3	64527058	64527058	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:64527058G>A	uc003dmg.3	-	34	5357	c.5325C>T	c.(5323-5325)ccC>ccT	p.P1775P	ADAMTS9_uc011bfo.2_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1775	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGTACTCTTTGGGGTGGTCAG	0.502												
CNTN3	5067	broad.mit.edu	37	3	74334529	74334529	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:74334529C>T	uc003dpm.1	-	18	2711	c.2631G>A	c.(2629-2631)acG>acA	p.T877T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	877	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGGACAGCCGTGTAATAGG	0.498												
POPDC2	64091	broad.mit.edu	37	3	119373376	119373376	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:119373376C>T	uc003ecx.1	-	1	710	c.576G>A	c.(574-576)caG>caA	p.Q192Q	POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	192						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCAGAAGGCTGTAGTGATT	0.562												
COPG1	22820	broad.mit.edu	37	3	128982760	128982760	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:128982760A>G	uc003els.3	+	12	1242	c.1142A>G	c.(1141-1143)cAg>cGg	p.Q381R	COPG1_uc010htb.3_Missense_Mutation_p.Q287R	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	381					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GTGGTTGTCCAGGCCATCAGT	0.537												
ZIC1	7545	broad.mit.edu	37	3	147128086	147128086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:147128086G>A	uc003ewe.3	+	0	906	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	63					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGCCAGACGGCCTTCACGTC	0.687												
MED12L	116931	broad.mit.edu	37	3	150906259	150906259	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:150906259C>T	uc003eyp.3	+	11	1874	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	MED12L_uc011bnz.2_Missense_Mutation_p.P442L|MED12L_uc003eyn.3_Missense_Mutation_p.P582L|MED12L_uc003eyo.3_Missense_Mutation_p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	582					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)			ACACAGGCCCCCTCTTTGTGT	0.343												
LAMTOR3	8649	broad.mit.edu	37	4	100805284	100805284	+	Splice_Site	SNP	T	T	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr4:100805284T>G	uc003hvg.2	-	6	487	c.238_splice	c.e6-1	p.V80_splice	LAMTOR3_uc003hvh.2_Splice_Site_p.V73_splice|LAMTOR3_uc003hvi.2_Splice_Site	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 (LAMTOR3), transcript variant 1, mRNA.	80					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						TTGAACCACCTAAAAAGAAAA	0.308												
MTMR12	54545	broad.mit.edu	37	5	32255876	32255876	+	Splice_Site	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:32255876T>C	uc003jhq.3	-	8	884	c.714_splice	c.e8-1	p.R238_splice	MTMR12_uc010iuk.3_Splice_Site_p.R238_splice|MTMR12_uc010iul.3_Splice_Site_p.R238_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	238	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGGCAATCTAGAAGAAAGA	0.418												
SLCO6A1	133482	broad.mit.edu	37	5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:101815988T>A	uc003knn.3	-	1	681	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_uc003kno.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.3_Missense_Mutation_p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	170						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333												
TRPC7	57113	broad.mit.edu	37	5	135692995	135692995	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:135692995C>T	uc003lbn.2	-	1	303	c.81G>A	c.(79-81)cgG>cgA	p.R27R	TRPC7_uc010jef.2_Silent_p.R18R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R27R|TRPC7_uc010jei.2_Silent_p.R27R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	27					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R27Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGGGACCCCGGATGGCCT	0.612												
PCDHAC2	56145	broad.mit.edu	37	5	140182972	140182972	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:140182972C>T	uc003lhf.2	+	0	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G730G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGAAGGCGACTGTGGGC	0.642												
ZFP57	346171	broad.mit.edu	37	6	29641071	29641071	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:29641071C>G	uc011dlw.2	-	3	968	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	189					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CGTTTGAGCTCAGACTGGTCC	0.552												
CLPSL1	340204	broad.mit.edu	37	6	35754859	35754859	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:35754859G>A	uc003old.4	+	1	241	c.184G>A	c.(184-186)Gcg>Acg	p.A62T		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	62					digestion|lipid catabolic process	extracellular region	enzyme activator activity										GTCGCACTGCGCGGAGAAGGG	0.662												
STXBP5	134957	broad.mit.edu	37	6	147704054	147704054	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:147704054G>C	uc003qlz.3	+	26	3509	c.3334G>C	c.(3334-3336)Ggg>Cgg	p.G1112R	STXBP5_uc010khz.2_Missense_Mutation_p.G1076R|STXBP5_uc003qly.3_Missense_Mutation_p.G767R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1112	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGATGAAAGAGGGCAGAAACT	0.483												
NDUFA4	4697	broad.mit.edu	37	7	10979661	10979661	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:10979661C>G	uc003srx.2	-	0	153	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_002489	NP_002480	O00483	NDUA4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	8					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	GCTTCTTGGCCTGACCGATGA	0.547												
DNAH11	8701	broad.mit.edu	37	7	21611464	21611464	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:21611464G>A	uc003svc.3	+	7	1497	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	489	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGGAAAGACTGGAATTT	0.353									Kartagener syndrome			
CHN2	1124	broad.mit.edu	37	7	29539565	29539565	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:29539565G>A	uc003szz.3	+	8	1259	c.822G>A	c.(820-822)gtG>gtA	p.V274V	CHN2_uc011jzs.2_Silent_p.V349V|CHN2_uc010kva.3_Silent_p.V44V|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.V239V|CHN2_uc011jzt.2_Silent_p.V287V|CHN2_uc010kvd.3_Silent_p.V130V|CHN2_uc011jzu.2_Silent_p.V259V|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Silent_p.V138V|CHN2_uc010kve.3_Silent_p.V138V|CHN2_uc003taa.3_Silent_p.V138V|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Silent_p.V138V|CHN2_uc010kvj.3_Silent_p.V93V|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Silent_p.V93V|CHN2_uc011jzv.2_Silent_p.V67V	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	274					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCAAGAAAGTGTACTGTTGTG	0.448												
CDC14C	168448	broad.mit.edu	37	7	48965137	48965137	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:48965137G>A	uc010kyv.1	+	0	981	c.869G>A	c.(868-870)cGc>cAc	p.R290H						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GGCCTTGGTCGCACAGGCACT	0.502												
ELN	2006	broad.mit.edu	37	7	73472022	73472022	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:73472022G>A	uc003tzw.3	+	21	1501	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	ELN_uc003tzn.3_Silent_p.Q470Q|ELN_uc003tzy.3_Intron|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Intron|ELN_uc003tzt.3_Silent_p.Q475Q|ELN_uc003tzu.3_Intron|ELN_uc003tzv.3_Intron|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.Q460Q|ELN_uc011kff.2_Silent_p.Q470Q	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	499	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AAGCCGCCCAGTTTGGTAAGT	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""					
GNAT3	346562	broad.mit.edu	37	7	80091548	80091548	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:80091548G>C	uc011kgu.2	-	6	801	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	267					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGTTGAGGAACAGGACAA	0.343												
CALCR	799	broad.mit.edu	37	7	93091387	93091387	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:93091387T>C	uc003umv.2	-	8	911	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	CALCR_uc003umt.1_Intron|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Intron|CALCR_uc003umw.2_Intron	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	186					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGCCTTCCTATATTTCCAATT	0.284												
GRM8	2918	broad.mit.edu	37	7	126882860	126882860	+	Silent	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:126882860A>G	uc003vlr.2	-	0	710	c.399T>C	c.(397-399)tgT>tgC	p.C133C	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	133					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCCATTAGCACACTTCACAT	0.483										HNSCC(24;0.065)		
TSGA13	114960	broad.mit.edu	37	7	130357671	130357671	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:130357671G>A	uc003vqi.3	-	5	890	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TSGA13_uc003vqj.3_Missense_Mutation_p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAG	0.473												
TRPV5	56302	broad.mit.edu	37	7	142625188	142625188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:142625188G>A	uc003wby.1	-	6	1168	c.904C>T	c.(904-906)Cga>Tga	p.R302*	TRPV5_uc003wbz.3_Nonsense_Mutation_p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	302					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527												
MLL3	58508	broad.mit.edu	37	7	151944990	151944990	+	Silent	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:151944990T>C	uc003wla.3	-	13	2748	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	843					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTACCTGTTTGGACCGAG	0.368			N		medulloblastoma							
EIF3H	8667	broad.mit.edu	37	8	117738327	117738327	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:117738327C>T	uc003yob.3	-	3	1026	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	EIF3H_uc003yoa.3_Missense_Mutation_p.E73K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	73	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGCCGATCTTCTACAACCAGA	0.403												
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:124384892_124384893insT	uc003yqh.4	-	2	462_463	c.354_355insA	c.(352-357)aaagaafs	p.K118fs	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Ins_p.K118fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGCTCTTCTTTTTTTTTAT	0.267												
FAM83H	286077	broad.mit.edu	37	8	144808899	144808899	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:144808899C>T	uc003yzk.3	-	4	2801	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	911					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)			ACTACCCCTGCGCTCGGGGTA	0.682												
DENND4C	55667	broad.mit.edu	37	9	19305352	19305352	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:19305352G>A	uc003znq.3	+	5	686	c.606G>A	c.(604-606)atG>atA	p.M202I	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	202	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCCCAGATGATCTTTCCAT	0.343												
CYLC2	1539	broad.mit.edu	37	9	105763888	105763888	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:105763888A>T	uc004bbs.2	+	1	116	c.46A>T	c.(46-48)Aat>Tat	p.N16Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	16					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCCATATGATAATTACATTCC	0.259												
C9orf84	158401	broad.mit.edu	37	9	114466161	114466161	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:114466161C>A	uc004bfr.3	-	20	2910	c.2775_splice	c.e20+1	p.Q925_splice	C9orf84_uc011lwt.2_Intron|C9orf84_uc004bfq.3_Splice_Site_p.Q886_splice|C9orf84_uc010mug.3_Splice_Site_p.Q836_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	925										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAGTTTTACCTGCAAAATTA	0.318												
ENG	2022	broad.mit.edu	37	9	130605418	130605418	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:130605418G>A	uc004bsj.4	-	1	587	c.174C>T	c.(172-174)ccC>ccT	p.P58P	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.P58P|5S_rRNA_uc022bnt.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	58					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATGGCATTGGGGGCCTGAG	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia			
BHLHB9	80823	broad.mit.edu	37	X	102004405	102004405	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:102004405C>T	uc022cbi.1	+	0	482	c.482C>T	c.(481-483)cCt>cTt	p.P161L	BHLHB9_uc010nog.3_Missense_Mutation_p.P161L|BHLHB9_uc011mrq.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrr.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrs.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrt.2_Missense_Mutation_p.P161L|BHLHB9_uc004ejo.3_Missense_Mutation_p.P161L|BHLHB9_uc011mru.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrv.2_Missense_Mutation_p.P161L	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	161						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATTGCAAACCTAGGTCAGGG	0.493												
FAM127C	441518	broad.mit.edu	37	X	134156181	134156181	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:134156181C>T	uc004eyc.1	-	0	386	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.	103										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ATCCAAAGACCCGCTTCATCT	0.667