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
MTOR	2475	broad.mit.edu	37	1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:11190804C>T	uc001asd.3	-	38	5516	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_uc001asc.3_Missense_Mutation_p.E4K	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1799	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.E1799K(8)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGCACAGCTTCGAAGTTCATC	0.582												
PRAMEF12	390999	broad.mit.edu	37	1	12837525	12837525	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:12837525C>T	uc001aui.3	+	2	1262	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	412										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGTATCCTGCCCCTCTG	0.577												
DDI2	84301	broad.mit.edu	37	1	15978327	15978327	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:15978327C>A	uc001awx.2	+	7	1333	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	374					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGGATGTACGGCCAGAGGA	0.512												
C1orf64	149563	broad.mit.edu	37	1	16330879	16330879	+	Silent	SNP	C	C	A	rs143498880	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:16330879C>A	uc001axn.3	+	1	150	c.82_splice	c.e1+1	p.G28_splice		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	28										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCTCCGGTAAGAGGC	0.647												
CDA	978	broad.mit.edu	37	1	20945033	20945033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:20945033G>A	uc001bdk.3	+	3	592	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	138					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TCCTCCTTTGGGCCTGAGGAC	0.557												
HSPG2	3339	broad.mit.edu	37	1	22163397	22163397	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:22163397T>A	uc009vqd.3	-	74	10296	c.10256A>T	c.(10255-10257)gAg>gTg	p.E3419V	HSPG2_uc001bfj.3_Missense_Mutation_p.E3418V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3418	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACAGTGGAACTCAACGCTGGC	0.662												
ARID1A	8289	broad.mit.edu	37	1	27099916	27099916	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:27099916C>T	uc001bmv.1	+	14	4168	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1265					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGCTGCCGGCCCTGGGCTAG	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
CYP4X1	260293	broad.mit.edu	37	1	47498946	47498946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:47498946G>A	uc001cqt.3	+	3	648	c.398G>A	c.(397-399)tGg>tAg	p.W133*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W68*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	133						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGACCCAAGTGGTTCCAGCAT	0.423												
SYDE2	84144	broad.mit.edu	37	1	85624724	85624724	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:85624724G>C	uc009wcm.3	-	6	3343	c.3294C>G	c.(3292-3294)aaC>aaG	p.N1098K		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1098					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTAAAAAGTAGTTTTCCCCAC	0.388												
COL24A1	255631	broad.mit.edu	37	1	86377068	86377068	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:86377068C>T	uc001dlj.3	-	24	2686	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	COL24A1_uc001dli.3_Missense_Mutation_p.E7K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E171K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	871	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTACCTTTTCGCCAATGCTT	0.308												
NOTCH2	4853	broad.mit.edu	37	1	120510201	120510201	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:120510201C>A	uc001eik.3	-	7	1605	c.1308G>T	c.(1306-1308)acG>acT	p.T436T	NOTCH2_uc001eil.3_Silent_p.T436T|NOTCH2_uc021osy.1_Silent_p.T397T|NOTCH2_uc001eim.4_Silent_p.T353T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	436	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T436T(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCGCCATCCGTGTTCACAC	0.473			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
TCHH	7062	broad.mit.edu	37	1	152080460	152080460	+	Missense_Mutation	SNP	G	G	A	rs71585886		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:152080460G>A	uc009wne.1	-	2	5505	c.5233C>T	c.(5233-5235)Cgc>Tgc	p.R1745C	TCHH_uc001ezp.2_Missense_Mutation_p.R1745C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1745	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCGTTCTTGGCGG	0.587												
SHCBP1L	81626	broad.mit.edu	37	1	182922239	182922239	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:182922239G>A	uc001gpu.3	-	0	315	c.30C>T	c.(28-30)ccC>ccT	p.P10P	SHCBP1L_uc001gpv.3_5'UTR|SHCBP1L_uc010pnz.2_5'UTR|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	82										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATGAGTCCGCGGGCACCGAGG	0.716												
PPP1R12B	4660	broad.mit.edu	37	1	202418229	202418229	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:202418229G>A	uc001gya.2	+	12	1930	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	594					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CACTGCCAATGGGGTTACAGC	0.507												
OR2B11	127623	broad.mit.edu	37	1	247614696	247614696	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:247614696C>T	uc010pyx.2	-	0	589	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATTCACAGCGGTGTCAGCA	0.577												
ITGB1	3688	broad.mit.edu	37	10	33211272	33211272	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:33211272C>A	uc001iws.4	-	8	1177	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ITGB1_uc001iwr.4_Missense_Mutation_p.E347D|ITGB1_uc001iwt.4_Missense_Mutation_p.E347D	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	347	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AGTTTTTCAGCTCCTGCAATT	0.348												
ALOX5	240	broad.mit.edu	37	10	45936078	45936078	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:45936078C>A	uc001jce.3	+	7	1281	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	ALOX5_uc009xmt.3_Missense_Mutation_p.F394L|ALOX5_uc010qfg.2_Missense_Mutation_p.F394L|ALOX5_uc021ppr.1_Missense_Mutation_p.F394L	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	394	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCCATTTTCAAGGTACAGC	0.582												
CDH23	64072	broad.mit.edu	37	10	73405621	73405621	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:73405621G>C	uc001jrx.4	+	11	1558	c.1168G>C	c.(1168-1170)Ggg>Cgg	p.G390R	CDH23_uc001jrw.4_Missense_Mutation_p.G390R|CDH23_uc001jry.3_Missense_Mutation_p.G390R|CDH23_uc001jrz.3_Missense_Mutation_p.G390R|CDH23_uc021psl.1_Missense_Mutation_p.G392R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	392	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTACTTGGTGGGGAACAACTC	0.572												
SYNPO2L	79933	broad.mit.edu	37	10	75407262	75407262	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:75407262A>G	uc001jut.4	-	3	2300	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	SYNPO2L_uc001jus.4_Silent_p.P492P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	716	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TAGGAGTCATAGGGGGCGGGG	0.617												
ZMIZ1	57178	broad.mit.edu	37	10	81061939	81061939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:81061939C>T	uc001kaf.2	+	17	2667	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	699					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGAAGCGCCTCCTGCCCGC	0.627												
RPP30	10556	broad.mit.edu	37	10	92660375	92660375	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:92660375G>A	uc001khd.2	+	10	1016	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RPP30_uc009xtx.3_Missense_Mutation_p.R249Q	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	249					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.R249R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AAGAAACCTCGGCCATCAGAA	0.423												
PDLIM1	9124	broad.mit.edu	37	10	96998437	96998437	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:96998437G>C	uc001kkh.3	-	5	800	c.691C>G	c.(691-693)Ccc>Gcc	p.P231A		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	231					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGCTTGTTGGGATCCCCTGAA	0.443												
DMBT1	1755	broad.mit.edu	37	10	124358594	124358594	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124358594C>T	uc001lgk.1	+	25	3367	c.3261C>T	c.(3259-3261)gaC>gaT	p.D1087D	DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc021qaf.1_Silent_p.D1087D|DMBT1_uc021qag.1_Silent_p.D1077D|DMBT1_uc021qah.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1087	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1087D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532												
DMBT1	1755	broad.mit.edu	37	10	124390740	124390740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124390740C>T	uc001lgk.1	+	45	6008	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1968*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1958*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1968	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1968L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCCGGAACCGAGGCTGGTT	0.542												
DOCK1	1793	broad.mit.edu	37	10	128830507	128830507	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:128830507G>A	uc010qun.2	+	17	1899	c.1835G>A	c.(1834-1836)aGc>aAc	p.S612N	DOCK1_uc001ljt.3_Missense_Mutation_p.S591N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	591	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCATGCAGAGCCTTGGGAGC	0.562												
ART5	116969	broad.mit.edu	37	11	3660908	3660908	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:3660908G>C	uc001lyb.1	-	1	1144	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	251						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAGGTCTGATTATAGCTC	0.522												
HBE1	3046	broad.mit.edu	37	11	5290821	5290821	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:5290821T>C	uc001mal.1	-	1	444	c.178A>G	c.(178-180)Aag>Gag	p.K60E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	60					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTGACCTTGGGGTTGCCC	0.507												
OR52L1	338751	broad.mit.edu	37	11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:6008078G>A	uc001mcd.2	-	0	138	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468												
SLC1A2	6506	broad.mit.edu	37	11	35313908	35313908	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:35313908C>T	uc001mwd.3	-	6	1609	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SLC1A2_uc021qfx.1_Silent_p.V330V|SLC1A2_uc001mwe.3_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	339					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TTTTCCTGGTCACTACAAAGT	0.478												
CREB3L1	90993	broad.mit.edu	37	11	46321656	46321656	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46321656C>T	uc021qil.1	+	1	708	c.273C>T	c.(271-273)agC>agT	p.S91S	CREB3L1_uc021qik.1_Silent_p.S91S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	91					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		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACTCCCTGAGCGGCGACTCAG	0.607			T	FUS	myxofibrosarcoma							
LRP4	4038	broad.mit.edu	37	11	46916320	46916320	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46916320G>A	uc001ndn.4	-	11	1603	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTGTGGCAGCACCTGCCGG	0.567												
OR5D14	219436	broad.mit.edu	37	11	55563704	55563704	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:55563704G>C	uc010rim.2	+	0	673	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCATTTTTGTGACTGTACT	0.478												
OR6Q1	219952	broad.mit.edu	37	11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:57798590C>T	uc010rjz.2	+	0	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTGGACCACCGACTACGGAG	0.478												
PLAC1L	219990	broad.mit.edu	37	11	59812205	59812205	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:59812205A>T	uc001nol.3	+	2	490	c.305A>T	c.(304-306)gAt>gTt	p.D102V		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	102						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAATATAGATCATGACCCT	0.408												
AHNAK	79026	broad.mit.edu	37	11	62299512	62299512	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:62299512T>A	uc001ntl.3	-	4	2677	c.2377A>T	c.(2377-2379)Agc>Tgc	p.S793C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTCAATGCTCACATCAGGA	0.502												
DPP3	10072	broad.mit.edu	37	11	66252660	66252660	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:66252660C>T	uc001oig.1	+	2	349	c.287C>T	c.(286-288)gCc>gTc	p.A96V	DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	96					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTCTATGCCGCGGGTGTT	0.592												
MMP7	4316	broad.mit.edu	37	11	102395756	102395756	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:102395756G>A	uc001phb.3	-	3	571	c.524C>T	c.(523-525)aCg>aTg	p.T175M	MMP7_uc009yxd.3_Missense_Mutation_p.T175M	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	175					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATGAGCCAGCGTGTTTCCTGG	0.478												
PPP2R1B	5519	broad.mit.edu	37	11	111631562	111631562	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:111631562C>G	uc001plw.1	-	3	604	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L	PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc001plx.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron|PPP2R1B_uc010rwj.1_Intron	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	174							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTGCTTTAACAGCATTTGAT	0.438												
OR8D1	283159	broad.mit.edu	37	11	124180313	124180313	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124180313G>C	uc010sag.2	-	0	350	c.350C>G	c.(349-351)gCc>gGc	p.A117G		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATATGCCATGGCAGTCAGGAG	0.478												
CCDC15	80071	broad.mit.edu	37	11	124910501	124910501	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124910501T>C	uc001qbm.4	+	15	3009	c.2750T>C	c.(2749-2751)cTa>cCa	p.L917P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	917						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACTCGGGCACTACATTCATTC	0.393												
VWF	7450	broad.mit.edu	37	12	6153612	6153612	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:6153612T>C	uc001qnn.1	-	17	2537	c.2287A>G	c.(2287-2289)Agg>Ggg	p.R763G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	763					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATAGGCTCCTTTTGCCTCGA	0.522												
A2M	2	broad.mit.edu	37	12	9251275	9251275	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:9251275G>C	uc001qvk.1	-	14	1892	c.1779C>G	c.(1777-1779)tcC>tcG	p.S593S	A2M_uc009zgk.1_Silent_p.S443S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	593					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGGCGCAGACGGACTGAGGAG	0.582												
MLL2	8085	broad.mit.edu	37	12	49416568	49416568	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:49416568C>A	uc001rta.4	-	50	16143	c.16143G>T	c.(16141-16143)gtG>gtT	p.V5381V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5381					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTTGGAGTGCACAAACTGCT	0.587			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KRT84	3890	broad.mit.edu	37	12	52771859	52771859	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52771859G>A	uc001sah.1	-	8	1810	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	588	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACAAAGCGGACGCTGGAG	0.677												
KRT74	121391	broad.mit.edu	37	12	52960950	52960950	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52960950C>T	uc001sap.1	-	8	1441	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	465	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607												
ZBTB39	9880	broad.mit.edu	37	12	57397937	57397937	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:57397937G>T	uc001sml.2	-	1	918	c.765C>A	c.(763-765)ttC>ttA	p.F255L	ZBTB39_uc021qzg.1_Missense_Mutation_p.F255L	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTTTTTACTGAAGTCTCCAT	0.517												
OS9	10956	broad.mit.edu	37	12	58112083	58112083	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:58112083G>A	uc001spj.3	+	10	1496	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	OS9_uc010srx.2_Missense_Mutation_p.R224Q|OS9_uc001spk.3_Missense_Mutation_p.R430Q|OS9_uc001spl.3_Missense_Mutation_p.R430Q|OS9_uc001spm.3_Missense_Mutation_p.R430Q|OS9_uc001spn.3_Missense_Mutation_p.R431Q|OS9_uc010sry.2_Missense_Mutation_p.R398Q|OS9_uc010srz.2_Missense_Mutation_p.R371Q	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	430					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	p.R430Q(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			gaggatgaACGGCAGTTACTG	0.547												
PAH	5053	broad.mit.edu	37	12	103246597	103246597	+	Missense_Mutation	SNP	C	C	T	rs62508698		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:103246597C>T	uc001tjq.1	-	6	1311	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	280			E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCACGGTTCGGGGGTATAC	0.547												
TCTN2	79867	broad.mit.edu	37	12	124156084	124156084	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:124156084G>A	uc001ufp.3	+	1	241	c.113G>A	c.(112-114)gGc>gAc	p.G38D	TCTN2_uc009zya.3_Missense_Mutation_p.G38D	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	38					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGAATGTCCGGCCCTGCGGTC	0.617												
RNF17	56163	broad.mit.edu	37	13	25363875	25363875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:25363875C>A	uc001upr.3	+	8	941	c.900C>A	c.(898-900)aaC>aaA	p.N300K	RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010tde.2_Missense_Mutation_p.N300K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	300					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATGTTCAACAATATGGGAA	0.308												
BRCA2	675	broad.mit.edu	37	13	32903619	32903619	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:32903619A>T	uc001uub.1	+	7	898	c.671A>T	c.(670-672)gAt>gTt	p.D224V	BRCA2_uc001uua.1_Missense_Mutation_p.D101V	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	224					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCCTCATGATACTACTGCT	0.259			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
TUBGCP3	10426	broad.mit.edu	37	13	113181294	113181294	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:113181294A>T	uc001vse.1	-	12	1704	c.1517T>A	c.(1516-1518)aTg>aAg	p.M506K	TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.M506K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	506					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACAGCTATCATCTTTGTAGT	0.413												
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24729739C>T	uc001wod.3	-	3	798	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	225			R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587												
NYNRIN	57523	broad.mit.edu	37	14	24886187	24886187	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24886187G>A	uc001wpf.4	+	8	5550	c.5232G>A	c.(5230-5232)ctG>ctA	p.L1744L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1744	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTTTGCTGCACCTGGCCT	0.622												
FOXA1	3169	broad.mit.edu	37	14	38061688	38061688	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:38061688C>T	uc001wuf.3	-	1	613	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FOXA1_uc010tpz.2_Missense_Mutation_p.V68M	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	101					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGCCGTCACGCCGGCCGCA	0.741												
PPM1A	5494	broad.mit.edu	37	14	60749967	60749967	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:60749967A>G	uc001xew.4	+	1	861	c.765A>G	c.(763-765)gtA>gtG	p.V255V	PPM1A_uc010apn.3_Silent_p.V182V|PPM1A_uc001xex.4_Silent_p.V182V|PPM1A_uc001xey.4_Silent_p.V182V	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	182					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTGGCTCTGTAATGATTCAGC	0.443												
AHNAK2	113146	broad.mit.edu	37	14	105409035	105409035	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:105409035A>G	uc010axc.1	-	6	12873	c.12753T>C	c.(12751-12753)gaT>gaC	p.D4251D	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4151D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4251						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTCATCACATCCGCCTTGG	0.642												
GABRB3	2562	broad.mit.edu	37	15	26866466	26866466	+	Silent	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:26866466C>G	uc001zbb.3	-	4	727	c.624G>C	c.(622-624)ggG>ggC	p.G208G	GABRB3_uc021sgg.1_Silent_p.G81G|GABRB3_uc021sgh.1_Silent_p.G67G|GABRB3_uc001zaz.3_Silent_p.G152G|GABRB3_uc001zba.3_Silent_p.G152G|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	152					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G152G(2)|p.G208G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGACCTGAGCCCATACAGCA	0.448												
TCF12	6938	broad.mit.edu	37	15	57543615	57543615	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:57543615C>G	uc002aec.3	+	13	1466	c.1182C>G	c.(1180-1182)caC>caG	p.H394Q	TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.3_Missense_Mutation_p.H394Q|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H394Q|TCF12_uc002aed.3_Missense_Mutation_p.H394Q|TCF12_uc010ugo.2_Missense_Mutation_p.H158Q|TCF12_uc002aee.3_Missense_Mutation_p.H224Q|TCF12_uc010bft.3_Missense_Mutation_p.H224Q|TCF12_uc010ugp.2_Missense_Mutation_p.H28Q|TCF12_uc010ugq.2_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	394					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTCACTCCACTCCCTGGTAA	0.448			T	TEC	extraskeletal myxoid chondrosarcoma							
AQP9	366	broad.mit.edu	37	15	58476317	58476317	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:58476317C>T	uc002aez.2	+	5	1228	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	291					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAAATATGAACTCAGTGTCAT	0.438												
BNC1	646	broad.mit.edu	37	15	83933192	83933192	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:83933192C>G	uc002bjt.1	-	3	899	c.811G>C	c.(811-813)Gac>Cac	p.D271H	BNC1_uc010uos.1_Missense_Mutation_p.D259H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	271					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGACTTTGGTCATGACCCTGC	0.488												
CHSY1	22856	broad.mit.edu	37	15	101775678	101775678	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:101775678G>T	uc021sxt.1	-	1	901	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	142					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCGGGTAGGAGTCGTCCAC	0.483												
PTX4	390667	broad.mit.edu	37	16	1537375	1537375	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:1537375A>T	uc010uvf.2	-	1	723	c.723T>A	c.(721-723)agT>agA	p.S241R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	246						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTCCCACTGAGTACCC	0.677												
PKD1	5310	broad.mit.edu	37	16	2160687	2160687	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:2160687C>T	uc002cos.1	-	14	4690	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1494H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1494	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGGGGCGCCCACGGCC	0.652												
ADCY7	113	broad.mit.edu	37	16	50349362	50349362	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:50349362G>T	uc002egd.1	+	24	3457	c.3189G>T	c.(3187-3189)agG>agT	p.R1063S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	1063					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGAGCTGAGGACTTACTTTG	0.572												
CES5A	221223	broad.mit.edu	37	16	55907825	55907825	+	Silent	SNP	C	C	T	rs113880150	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:55907825C>T	uc021tir.1	-	2	431	c.285G>A	c.(283-285)ccG>ccA	p.P95P	CES5A_uc002eip.2_Silent_p.P66P|CES5A_uc002eio.2_Silent_p.P66P|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	66						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATCCCAGCGGGGGAGCAG	0.597												
E2F4	1874	broad.mit.edu	37	16	67226947	67226947	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:67226947C>G	uc002erz.3	+	2	344	c.281C>G	c.(280-282)gCt>gGt	p.A94G	EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	94	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CGGGAGATTGCTGACAAACTG	0.612												
C17orf100	388327	broad.mit.edu	37	17	6555309	6555309	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:6555309C>A	uc010clp.1	+	0	251	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN	Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.	26																	GTCCACGGTCCGCGTGGAGAC	0.736												
SLFN13	146857	broad.mit.edu	37	17	33771684	33771684	+	Missense_Mutation	SNP	C	C	T	rs148604980		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:33771684C>T	uc002hjk.1	-	0	1346	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	339						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTCAAGGGGCGGATGTACTT	0.488												
IKZF3	22806	broad.mit.edu	37	17	37985642	37985642	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:37985642C>G	uc002hsu.3	-	2	223	c.161G>C	c.(160-162)gGa>gCa	p.G54A	IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.G54A|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.G54A|IKZF3_uc010cwf.3_Missense_Mutation_p.G54A|IKZF3_uc010cwg.3_Missense_Mutation_p.G54A|IKZF3_uc002hsw.3_Missense_Mutation_p.G54A|IKZF3_uc002hsx.3_Missense_Mutation_p.G54A|IKZF3_uc002hsy.3_Missense_Mutation_p.G54A|IKZF3_uc002hsz.3_Missense_Mutation_p.G54A|IKZF3_uc002hta.3_Missense_Mutation_p.G54A|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G54A|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	54					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCTCACCTCCTATGTCTTC	0.428												
NAGS	162417	broad.mit.edu	37	17	42085912	42085912	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:42085912C>A	uc010czn.3	+	6	1572	c.1572C>A	c.(1570-1572)aaC>aaA	p.N524K	NAGS_uc002ies.3_Missense_Mutation_p.N516K|NAGS_uc002iet.3_Missense_Mutation_p.N140K	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	516	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	AGTTGGTCAACCACGCCAAGG	0.557												
SEPT4	5414	broad.mit.edu	37	17	56603127	56603127	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:56603127C>T	uc010wnx.2	-	4	657	c.512G>A	c.(511-513)gGc>gAc	p.G171D	SEPT4_uc002iwk.2_Missense_Mutation_p.G9D|SEPT4_uc010wnw.2_Missense_Mutation_p.G9D|SEPT4_uc002iwl.2_Missense_Mutation_p.G9D|SEPT4_uc002iwm.2_Missense_Mutation_p.G156D|SEPT4_uc002iwo.2_Missense_Mutation_p.G137D|SEPT4_uc002iwp.2_Missense_Mutation_p.G137D|SEPT4_uc010wny.2_Missense_Mutation_p.G148D|SEPT4_uc010dcy.2_Missense_Mutation_p.G38D	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	156					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R171R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGATTTGCCCAGGCCAGA	0.502												
CD7	924	broad.mit.edu	37	17	80274632	80274632	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80274632C>T	uc002kel.1	-	1	417	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CD7_uc010din.3_Missense_Mutation_p.R103H|CD7_uc010wvk.1_Missense_Mutation_p.R103H	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	103	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGCTGCAGGCGGTGCATGGT	0.612												
B3GNTL1	146712	broad.mit.edu	37	17	80915279	80915279	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80915279C>G	uc002kgg.1	-	8	831	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	273							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCCGGCGCCCCTGCTTGCCA	0.692												
SMCHD1	23347	broad.mit.edu	37	18	2700592	2700592	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:2700592A>T	uc002klm.4	+	10	1587	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	466					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGCAGCTAGAGGGAAAAGGC	0.303												
C18orf8	29919	broad.mit.edu	37	18	21089223	21089223	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:21089223C>G	uc021uie.1	+	4	509	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	130										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAACAGATCAAGGAATCGA	0.294												
DSG4	147409	broad.mit.edu	37	18	28968938	28968938	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:28968938G>A	uc002kwr.2	+	4	609	c.474G>A	c.(472-474)tcG>tcA	p.S158S	DSG4_uc002kwq.2_Silent_p.S158S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGTCTTTTCGCAAAGTGTAT	0.413												
NOL4	8715	broad.mit.edu	37	18	31432915	31432915	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:31432915G>A	uc010dmi.3	-	10	2106	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	NOL4_uc010xbs.2_Missense_Mutation_p.P318L|NOL4_uc002kxr.4_Missense_Mutation_p.P375L|NOL4_uc010xbt.2_Missense_Mutation_p.P529L|NOL4_uc010dmh.3_Missense_Mutation_p.P465L|NOL4_uc010xbu.2_Missense_Mutation_p.P539L|NOL4_uc002kxt.4_Missense_Mutation_p.P501L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	603						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GATTTCAGTTGGACTCAGCTG	0.448												
MYO5B	4645	broad.mit.edu	37	18	47405384	47405384	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:47405384G>T	uc002leb.2	-	23	3495	c.3207C>A	c.(3205-3207)aaC>aaA	p.N1069K	MYO5B_uc002lea.2_Missense_Mutation_p.N210K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1069					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCACAAGGTTCTGGTACC	0.488												
CCBE1	147372	broad.mit.edu	37	18	57105364	57105364	+	Silent	SNP	C	C	T	rs144169027		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:57105364C>T	uc002lib.3	-	9	1036	c.966G>A	c.(964-966)gcG>gcA	p.A322A	CCBE1_uc010dpq.3_Silent_p.A51A|CCBE1_uc002lia.3_Silent_p.A175A	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	322	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGGGCCCAGGCGCTCCTCTCT	0.507												
TNFRSF11A	8792	broad.mit.edu	37	18	60033975	60033975	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:60033975C>T	uc002lin.3	+	7	803	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	255					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGGCTTGTGGCCGCCTAAGTG	0.403												
RTTN	25914	broad.mit.edu	37	18	67718720	67718720	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:67718720G>T	uc002lkp.2	-	38	5318	c.5250C>A	c.(5248-5250)ctC>ctA	p.L1750L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1750							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCCTCAGGAGCATGGCCA	0.408												
SALL3	27164	broad.mit.edu	37	18	76757007	76757007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:76757007delC	uc002lmt.3	+	2	3588	c.3588delC	c.(3586-3588)ttcfs	p.F1196fs	SALL3_uc010dra.3_Frame_Shift_Del_p.F731fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGAAATGTTCCAGAAGGACC	0.577												
TCF3	6929	broad.mit.edu	37	19	1619469	1619469	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:1619469C>G	uc002ltr.3	-	14	1241	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	TCF3_uc002lto.3_Splice_Site_p.S152_splice|TCF3_uc002ltt.4_Missense_Mutation_p.S391T|TCF3_uc002ltq.3_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	391	Leucine-zipper.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTATCTTACTCTGCTGCAG	0.682			T	"""PBX1, HLF, TFPT"""	pre B-ALL							
RFX2	5990	broad.mit.edu	37	19	6007158	6007158	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:6007158C>T	uc002meb.3	-	11	1536	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	RFX2_uc002mec.3_Missense_Mutation_p.A398T|AX748210_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGGACGGCGCCCTCGGGG	0.662												
MAN2B1	4125	broad.mit.edu	37	19	12757445	12757445	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:12757445C>A	uc002mub.2	-	23	3101	c.3025G>T	c.(3025-3027)Gtg>Ttg	p.V1009L	MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	1009					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACCATCCACCTCCTTCCAT	0.602												
DCAF15	90379	broad.mit.edu	37	19	14065391	14065391	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:14065391G>A	uc002mxt.3	+	2	290	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	95								p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTACACCAGCAGCAGTGGG	0.582												
MAP1S	55201	broad.mit.edu	37	19	17844118	17844118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:17844118C>T	uc002nhe.1	+	5	2914	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	969	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTTCTTCCAGCGCGTGCG	0.687												
ATP13A1	57130	broad.mit.edu	37	19	19756301	19756301	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:19756301C>G	uc002nnh.4	-	25	3573	c.3545G>C	c.(3544-3546)tGc>tCc	p.C1182S	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.4_Missense_Mutation_p.C550S|ATP13A1_uc002nng.3_Missense_Mutation_p.C1064S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1182					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCGCCAGGCAGAAGTCCAG	0.647												
GRAMD1A	57655	broad.mit.edu	37	19	35512755	35512755	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:35512755C>A	uc010xsf.1	+	14	1755	c.1755C>A	c.(1753-1755)ggC>ggA	p.G585G	GRAMD1A_uc010xse.1_Silent_p.G580G|GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc002nxn.1_Silent_p.G195G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	580						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGGGCCGGCATTCACACCT	0.711												
ZNF565	147929	broad.mit.edu	37	19	36673611	36673611	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:36673611G>A	uc002odn.3	-	4	1365	c.1257C>T	c.(1255-1257)taC>taT	p.Y419Y	ZNF565_uc010ees.3_Silent_p.Y354Y|ZNF565_uc002odo.3_Silent_p.Y419Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCTTACATTCGTAGGGTTTGT	0.448												
SIRT2	22933	broad.mit.edu	37	19	39371782	39371782	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:39371782A>C	uc002ojt.2	-	10	1046	c.705T>G	c.(703-705)ttT>ttG	p.F235L	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Missense_Mutation_p.F198L|SIRT2_uc002ojs.2_Missense_Mutation_p.F215L|SIRT2_uc002oju.2_Missense_Mutation_p.F198L|SIRT2_uc010egh.2_Missense_Mutation_p.F198L|SIRT2_uc002ojv.2_Missense_Mutation_p.F233L	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	235	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGCTCTCACCAAAAAAGACGA	0.617												
PSG5	5673	broad.mit.edu	37	19	43689016	43689016	+	Silent	SNP	G	G	A	rs143404539	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:43689016G>A	uc002ovu.3	-	1	479	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.D116D	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	116	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCCGGG	0.438												
PRKD2	25865	broad.mit.edu	37	19	47197301	47197301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47197301G>A	uc002pfh.3	-	10	1749	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.I312I|PRKD2_uc002pfi.3_Silent_p.I469I|PRKD2_uc002pfj.3_Silent_p.I469I|PRKD2_uc010xye.2_Silent_p.I469I|PRKD2_uc002pfk.3_Silent_p.I312I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	469	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCAGTGACGATCTCAAAGC	0.647												
DHX34	9704	broad.mit.edu	37	19	47879753	47879753	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47879753C>T	uc010xyn.2	+	11	2884	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	845						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGTCTTCGCTGGCAGCC	0.652												
ZNF649	65251	broad.mit.edu	37	19	52394397	52394397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:52394397C>T	uc002pxy.3	-	4	1318	c.992G>A	c.(991-993)gGc>gAc	p.G331D	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTTGAGATTGCCCTTCTGAAT	0.453												
ZNF347	84671	broad.mit.edu	37	19	53645153	53645153	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:53645153T>A	uc002qbc.2	-	4	1358	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	ZNF347_uc002qbb.2_Missense_Mutation_p.I310F|ZNF347_uc010eql.2_Missense_Mutation_p.I311F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGGATCACCTGATGG	0.388												
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:55447703G>A	uc002qih.4	-	5	2302	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552												
ZNF329	79673	broad.mit.edu	37	19	58640193	58640193	+	Silent	SNP	G	G	A	rs116840582	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:58640193G>A	uc002qrn.3	-	3	915	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.T226T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCTTCTCTCCGGTGTGAGTTC	0.433												
CIB4	130106	broad.mit.edu	37	2	26805768	26805768	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:26805768G>A	uc002rhm.3	-	5	481	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	151	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGATCCGACTCACTCAG	0.542												
CAD	790	broad.mit.edu	37	2	27465508	27465508	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:27465508G>T	uc002rji.3	+	40	6405	c.6243G>T	c.(6241-6243)ctG>ctT	p.L2081L	CAD_uc010eyw.3_Silent_p.L2018L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2081	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGGTGACCTGAAGCACGGAC	0.587												
BIRC6	57448	broad.mit.edu	37	2	32710744	32710744	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:32710744G>A	uc010ezu.3	+	39	7865	c.7731G>A	c.(7729-7731)caG>caA	p.Q2577Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2577					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACTTGAACAGCAAGCAGAAC	0.373												
PRKCE	5581	broad.mit.edu	37	2	46228662	46228662	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:46228662A>G	uc002rut.3	+	6	1140	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	315					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAAAATCACCAACAGCGGCCA	0.552												
RAB11FIP5	26056	broad.mit.edu	37	2	73316179	73316179	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:73316179T>C	uc002siu.4	-	1	937	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RAB11FIP5_uc002sit.4_Silent_p.K154K	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	232					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAGCCTTTGGCTTTGC	0.602												
PAX8	7849	broad.mit.edu	37	2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:113999249G>T	uc010yxt.2	-	6	822	c.656C>A	c.(655-657)cCc>cAc	p.P219H	PAX8_uc010yxu.2_Missense_Mutation_p.P219H|PAX8_uc002tjm.3_Missense_Mutation_p.P219H|PAX8_uc002tjn.3_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis					
TTN	7273	broad.mit.edu	37	2	179407009	179407009	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179407009C>G	uc021vsy.1	-	297	89995	c.89770G>C	c.(89770-89772)Gag>Cag	p.E29924Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23619Q|TTN_uc021vta.1_Missense_Mutation_p.E23552Q|TTN_uc021vtb.1_Missense_Mutation_p.E23427Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30851	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCGACACTCTATGACCTCA	0.463												
TTN	7273	broad.mit.edu	37	2	179634616	179634616	+	Frame_Shift_Del	DEL	T	T	-	rs78680811		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179634616delT	uc021vsy.1	-	36	8917	c.8692delA	c.(8692-8694)actfs	p.T2898fs	TTN_uc021vsz.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vta.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2898	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAGGCAGTTTTGGTCTCA	0.368												
MYO1B	4430	broad.mit.edu	37	2	192255148	192255148	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:192255148T>C	uc010fsg.2	+	17	2167	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	638	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGGCAGGCCTATGAACCTTG	0.468												
TMEFF2	23671	broad.mit.edu	37	2	193049126	193049126	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:193049126T>C	uc002utc.3	-	2	760	c.366A>G	c.(364-366)aaA>aaG	p.K122K	TMEFF2_uc002utd.1_Silent_p.K122K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	122	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACTCTGCTGTTTGCATGCAG	0.473												
PAX3	5077	broad.mit.edu	37	2	223096854	223096854	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:223096854G>C	uc010fwo.3	-	4	1116	c.735C>G	c.(733-735)gaC>gaG	p.D245E	PAX3_uc002vmt.2_Missense_Mutation_p.D245E|PAX3_uc002vmy.2_Missense_Mutation_p.D244E|PAX3_uc002vmv.2_Missense_Mutation_p.D245E|PAX3_uc002vmw.2_Missense_Mutation_p.D245E|PAX3_uc002vmx.2_Missense_Mutation_p.D245E	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	245					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D245Y(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGTATAAATGTCAGGGTAAT	0.527			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
ESPNL	339768	broad.mit.edu	37	2	239036280	239036280	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:239036280G>C	uc002vxq.4	+	6	1230	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	ESPNL_uc010fyw.3_Missense_Mutation_p.A70P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	374	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAGCCCGGCCTGGCCTGG	0.672												
OR6B3	150681	broad.mit.edu	37	2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:240985270C>T	uc010zoe.2	-	0	220	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557												
MYEOV2	150678	broad.mit.edu	37	2	241066064	241066064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241066064delT	uc002vyu.1	-	4	675	c.675delA	c.(673-675)aaafs	p.K225fs		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTAAAACATTTACCCCTCC	0.488												
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241069334C>T	uc002vyu.1	-	3	375	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617												
D2HGDH	728294	broad.mit.edu	37	2	242683078	242683078	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:242683078A>G	uc002wce.1	+	4	705	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	178	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGAGGAGCTGAGCCGGTATGT	0.642												
RBCK1	10616	broad.mit.edu	37	20	409649	409649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:409649C>T	uc002wdp.4	+	10	2056	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	RBCK1_uc002wdq.4_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q285*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	455					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GATCGTGGTACAGAAGAAGGA	0.682												
RBPJL	11317	broad.mit.edu	37	20	43936878	43936878	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:43936878G>T	uc002xns.3	+	1	190	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	MATN4_uc002xnp.2_5'UTR|MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.3_Missense_Mutation_p.G40C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	40					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCCTCCCGGGCACTTGGAC	0.642												
GGTLC2	91227	broad.mit.edu	37	22	22989259	22989259	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:22989259T>A	uc010gts.2	+	1	246	c.212T>A	c.(211-213)aTc>aAc	p.I71N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.I71N	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	71					glutathione biosynthetic process		gamma-glutamyltransferase activity	p.E70G(1)|p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GTCAGCGAGATCCTGTTCAAT	0.592												
PLA2G6	8398	broad.mit.edu	37	22	38541510	38541510	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:38541510C>G	uc003auy.1	-	2	496	c.360G>C	c.(358-360)tgG>tgC	p.W120C	PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	120					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCCACTGACCAGCTGGGGT	0.577												
RANGAP1	5905	broad.mit.edu	37	22	41652054	41652054	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:41652054G>T	uc003azs.3	-	8	2514	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	RANGAP1_uc003azt.3_Missense_Mutation_p.F348L|RANGAP1_uc003azu.3_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.2_Missense_Mutation_p.F293L	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	348					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCATGTTGAAGCCCTCCA	0.597												
SBF1	6305	broad.mit.edu	37	22	50904674	50904674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:50904674G>A	uc003blh.3	-	7	997	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	268	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGATGGGCACATAGGTG	0.672												
DNAH1	25981	broad.mit.edu	37	3	52393305	52393305	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:52393305C>G	uc011bef.2	+	25	4571	c.4310C>G	c.(4309-4311)aCc>aGc	p.T1437S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1437	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCAGGTGACCATCGCTGGG	0.627												
OR5K2	402135	broad.mit.edu	37	3	98216751	98216751	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:98216751C>G	uc011bgx.2	+	0	227	c.227C>G	c.(226-228)gCt>gGt	p.A76G		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCCTGTGCTATTACCCCC	0.413												
PPP2R3A	5523	broad.mit.edu	37	3	135721607	135721607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:135721607G>T	uc003eqv.2	+	1	1884	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	423					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTCAGATGGAAAGAAAGC	0.358												
ACPL2	92370	broad.mit.edu	37	3	141006223	141006223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:141006223G>T	uc003etu.3	+	6	732	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	ACPL2_uc003etv.3_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.2_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.E128*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	145						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCTCTTTCGAAAGCCCCTT	0.493												
PLCH1	23007	broad.mit.edu	37	3	155198910	155198910	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:155198910T>A	uc021xge.1	-	22	5206	c.4929A>T	c.(4927-4929)aaA>aaT	p.K1643N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1605N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1643					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCACCCCCTTTCGTGTTCT	0.562												
MECOM	2122	broad.mit.edu	37	3	168834168	168834168	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:168834168C>T	uc011bpj.1	-	7	1895	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc003ffi.3_Missense_Mutation_p.G310S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpk.1_Missense_Mutation_p.G310S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTACAAGCCGGAAGGAAAC	0.473												
PIK3CA	5290	broad.mit.edu	37	3	178928108	178928127	+	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	uc003fjk.3	+	8	1561	c.1404_splice	c.e8+1	p.K468_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	468	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P466S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	0.332		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
HRG	3273	broad.mit.edu	37	3	186394875	186394875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:186394875C>A	uc003fqq.3	+	6	804	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	261					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCATTTGGGACATCCCTTCCA	0.468												
TNK2	10188	broad.mit.edu	37	3	195611779	195611779	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:195611779G>C	uc003fvu.1	-	3	903	c.360C>G	c.(358-360)ctC>ctG	p.L120L	TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	120					positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTCCCCAATGAGGCAGGTGA	0.672												
FGFR3	2261	broad.mit.edu	37	4	1807639	1807639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1807639G>A	uc003gdr.3	+	12	2064	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	603	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R603R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CAGGTGGCCCGGGGCATGGAG	0.692		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome			
WHSC2	7469	broad.mit.edu	37	4	1986590	1986590	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1986590G>A	uc003gem.3	-	7	1257	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	WHSC2_uc003gek.3_Silent_p.S64S|WHSC2_uc003gel.3_Silent_p.S252S|WHSC2_uc003gen.3_Silent_p.S192S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	327					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CGCTGGGCGTGGAGGGAAGGT	0.617												
CC2D2A	57545	broad.mit.edu	37	4	15589458	15589458	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:15589458C>T	uc010idv.2	+	32	4330	c.4085C>T	c.(4084-4086)gCa>gTa	p.A1362V	CC2D2A_uc003gnx.3_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1362					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATCTCCTGGCAGGGGATGAA	0.383												
SLIT2	9353	broad.mit.edu	37	4	20598280	20598280	+	Splice_Site	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:20598280T>A	uc003gpr.1	+	32	3765	c.3561_splice	c.e32+2	p.Q1187_splice	SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1187	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACACTTCAGGTAAGAGATCTC	0.358												
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:66361196T>A	uc003hcy.3	-	3	1169	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	EPHA5_uc003hcx.3_Missense_Mutation_p.S257C|EPHA5_uc003hcz.3_Missense_Mutation_p.S326C|EPHA5_uc011cah.2_Missense_Mutation_p.S326C|EPHA5_uc011cai.2_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)		
FGB	2244	broad.mit.edu	37	4	155490852	155490852	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:155490852C>T	uc003ioa.4	+	6	1184	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FGB_uc010ipv.3_Missense_Mutation_p.A323V	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	382	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCGGTAATGCCCTCATGGAT	0.473												
PALLD	23022	broad.mit.edu	37	4	169824985	169824985	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:169824985C>A	uc011cjx.2	+	14	2761	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.T833T|PALLD_uc003irv.3_Silent_p.T451T|PALLD_uc003irw.3_Silent_p.T346T|PALLD_uc003irx.3_Silent_p.T59T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1057	Interaction with ACTN.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCGATGGGACCTGCTCCCTCC	0.438									Pancreatic Cancer, Familial Clustering of			
ADAMTS16	170690	broad.mit.edu	37	5	5200249	5200249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:5200249G>T	uc003jdl.3	+	8	1456	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	440	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						tcATAGCTTTGGCATGATTCA	0.438												
CDH18	1016	broad.mit.edu	37	5	19503108	19503108	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:19503108G>C	uc003jgd.3	-	10	2157	c.1623C>G	c.(1621-1623)gaC>gaG	p.D541E	CDH18_uc011cnm.2_Missense_Mutation_p.D541E|CDH18_uc003jgc.3_Missense_Mutation_p.D541E|CDH18_uc021xwu.1_Missense_Mutation_p.D541E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	541	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCTTCATTGTCCTTCAGAG	0.353												
PRDM9	56979	broad.mit.edu	37	5	23522791	23522791	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:23522791G>T	uc003jgo.3	+	7	861	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	227					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTTGTAAAGGACAGTGCAGT	0.552										HNSCC(3;0.000094)		
NIPBL	25836	broad.mit.edu	37	5	37064646	37064646	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:37064646A>G	uc003jkl.4	+	46	8566	c.8067A>G	c.(8065-8067)aaA>aaG	p.K2689K	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2689					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGGTCAAAACGAAATTCAG	0.378												
C9	735	broad.mit.edu	37	5	39288825	39288825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:39288825C>A	uc003jlv.4	-	10	1734	c.1645_splice	c.e10+1	p.G549_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	549					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTGTCCTCACCTTCAGAAATT	0.333												
SETD9	133383	broad.mit.edu	37	5	56207282	56207282	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:56207282A>G	uc003jqx.3	+	1	771	c.385A>G	c.(385-387)Agc>Ggc	p.S129G	SETD9_uc021xyu.1_Missense_Mutation_p.S129G	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	Homo sapiens chromosome 5 open reading frame 35 (C5orf35), transcript variant 1, mRNA.	129																	CCAAGCAACTAGCTCATTGAT	0.403												
MTX3	345778	broad.mit.edu	37	5	79279592	79279592	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:79279592G>A	uc010jag.3	-	8	881	c.854C>T	c.(853-855)cCt>cTt	p.P285L	MTX3_uc010jah.3_3'UTR|MTX3_uc003kge.4_Missense_Mutation_p.P224L	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	285					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGGAAGCTGAGGGCTTTGGCG	0.463												
SLC23A1	9963	broad.mit.edu	37	5	138716553	138716553	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:138716553C>A	uc003leg.3	-	3	428	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	SLC23A1_uc003leh.3_Missense_Mutation_p.A111S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	111					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AATGCAAAGGCACTGGCCTGG	0.602												
KIF4B	285643	broad.mit.edu	37	5	154396908	154396908	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:154396908C>A	uc010jih.1	+	0	3649	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1163	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.A1162S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTGCCACCCCCAATAGCA	0.532												
FAM217A	222826	broad.mit.edu	37	6	4068936	4068938	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:4068936_4068938delTTG	uc003mvx.3	-	6	1925_1927	c.1519_1521delCAA	c.(1519-1521)caadel	p.Q507del	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_In_Frame_Del_p.Q444del	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	507																	AGAGTTATTTTTGTTCAATGGGT	0.360												
CFB	629	broad.mit.edu	37	6	31915244	31915244	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:31915244C>T	uc003nyj.4	+	3	882	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CFB_uc011dor.2_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	202	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCAGCGGCGAACGTG	0.632												
TAP2	6891	broad.mit.edu	37	6	32806007	32806007	+	Missense_Mutation	SNP	G	G	A	rs61736918	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:32806007G>A	uc011dqf.1	-	1	126	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003occ.3_Missense_Mutation_p.R2W|TAP2_uc003ocd.3_Missense_Mutation_p.R2W	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	2					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TCAGGGAGCCGCATGGCTCTG	0.622												
LEMD2	221496	broad.mit.edu	37	6	33740529	33740529	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:33740529C>A	uc011drm.2	-	8	1401	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	LEMD2_uc010jvg.3_Missense_Mutation_p.R172L|LEMD2_uc011drl.2_Missense_Mutation_p.R161L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	463						integral to nuclear inner membrane		p.R463Q(2)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCACAGCTCGGTCCCAGAC	0.627												
PGK2	5232	broad.mit.edu	37	6	49754282	49754282	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:49754282G>T	uc003ozu.3	-	0	772	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	207					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCAGAAAGGGTCTCACTGGG	0.428												
ROS1	57120	broad.mit.edu	37	6	117892118	117892118	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:117892118C>A	uc003pxu.3	-	6	1071	c.817_splice	c.e6-1	p.D273_splice	ROS1_uc003pxq.1_Splice_Site_p.D46_splice|ROS1_uc003pxv.3_Splice_Site_p.D265_splice	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAATCTTGATCCTTATTGGGA	0.328			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
UTRN	7402	broad.mit.edu	37	6	145103130	145103130	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:145103130T>C	uc003qkt.3	+	59	8797	c.8705T>C	c.(8704-8706)cTc>cCc	p.L2902P		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2902	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACCAGCTCCTCAGTGTTCCA	0.403												
ESR1	2099	broad.mit.edu	37	6	152163775	152163775	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:152163775G>T	uc010kio.3	+	2	714	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ESR1_uc021zgx.1_Missense_Mutation_p.A166S|ESR1_uc021zgy.1_Non-coding_Transcript|ESR1_uc003qom.4_Missense_Mutation_p.A166S|ESR1_uc010kin.3_Missense_Mutation_p.A166S|ESR1_uc010kip.3_Missense_Mutation_p.A166S|ESR1_uc003qon.4_Missense_Mutation_p.A166S|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.A166S|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_5'UTR|ESR1_uc011eew.2_5'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_5'UTR|ESR1_uc021zha.1_5'Flank	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	166	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	AGAAAGATTGGCCAGTACCAA	0.453												
TIAM2	26230	broad.mit.edu	37	6	155451173	155451173	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:155451173G>T	uc003qqb.3	+	5	2089	c.816G>T	c.(814-816)atG>atT	p.M272I	TIAM2_uc003qqe.3_Missense_Mutation_p.M272I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	272					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCCCGGCATGCCTGACCCCA	0.597												
IGF2R	3482	broad.mit.edu	37	6	160445736	160445736	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:160445736G>T	uc003qta.3	+	5	794	c.646_splice	c.e5+1	p.D216_splice		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	216					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGAGACATAGGTATGAATCT	0.438												
AP5Z1	9907	broad.mit.edu	37	7	4830771	4830771	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:4830771A>G	uc003sne.3	+	16	2264	c.2179A>G	c.(2179-2181)Agg>Ggg	p.R727G	AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Missense_Mutation_p.R204G|MIR4656_uc021zzb.1_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	727					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GTCAAAGATGAGGACCCTGGC	0.637												
STARD3NL	83930	broad.mit.edu	37	7	38254036	38254039	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38254036_38254039delGTAA	uc003tfr.3	+	3	576	c.303_splice	c.e3+1	p.F101_splice		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	101	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGATATATTTGTAAGTATTTTTTA	0.338												
AMPH	273	broad.mit.edu	37	7	38516553	38516553	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38516553C>T	uc003tgu.3	-	5	629	c.413G>A	c.(412-414)cGc>cAc	p.R138H	AMPH_uc003tgv.3_Missense_Mutation_p.R138H	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	138	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTGCTGCGCTTGGCGAT	0.502												
C7orf25	79020	broad.mit.edu	37	7	42949845	42949845	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:42949845G>C	uc003thx.4	-	1	1314	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	C7orf25_uc010kxq.3_Missense_Mutation_p.L219V|C7orf25_uc010kxr.3_Missense_Mutation_p.L277V|C7orf25_uc022ace.1_Missense_Mutation_p.L219V	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	219								p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACCTGCAAAAGTTCAGGGCCC	0.438												
ADCY1	107	broad.mit.edu	37	7	45632382	45632382	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:45632382G>A	uc003tne.4	+	1	682	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ADCY1_uc003tnd.3_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	222					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTGCTCTTCGTCGGTGTGAA	0.592												
TNS3	64759	broad.mit.edu	37	7	47408183	47408183	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:47408183G>A	uc003tnw.3	-	16	2418	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TNS3_uc022acn.1_Missense_Mutation_p.S244F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	687						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGAGCCTGGGGAGGGGCCTGT	0.622												
POM121L12	285877	broad.mit.edu	37	7	53103674	53103674	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:53103674G>C	uc003tpz.3	+	0	326	c.310G>C	c.(310-312)Ggg>Cgg	p.G104R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCTTCCCGGGGAGACCGC	0.721												
EGFR	1956	broad.mit.edu	37	7	55249121	55249121	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:55249121G>C	uc003tqk.3	+	19	2665	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	EGFR_uc022adm.1_Missense_Mutation_p.D807H|EGFR_uc010kzg.2_Missense_Mutation_p.D762H|EGFR_uc022adn.1_Missense_Mutation_p.D762H|EGFR_uc011kco.2_Missense_Mutation_p.D754H|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D42H	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	807	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K806E(4)|p.D807N(3)|p.K806A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAACACAAAGACAATATTGG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
LAT2	7462	broad.mit.edu	37	7	73630358	73630358	+	Missense_Mutation	SNP	T	T	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:73630358T>G	uc003uag.3	+	2	603	c.53T>G	c.(52-54)tTg>tGg	p.L18W	LAT2_uc003uah.3_Missense_Mutation_p.L18W|LAT2_uc003uai.3_Missense_Mutation_p.L18W|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	18					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.L18W(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGGTGCTGTTGGGGGTGGCA	0.637												
RSBN1L	222194	broad.mit.edu	37	7	77402516	77402516	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:77402516C>T	uc010ldt.1	+	5	1722	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	560						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGAGCCCCGTGAGATGCT	0.383												
AKAP9	10142	broad.mit.edu	37	7	91668077	91668078	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:91668077_91668078insGA	uc003ulg.3	+	16	4908_4909	c.4683_4684insGA	c.(4681-4686)gttagafs	p.V1561fs	AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.3_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.V1186fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.S1561*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTATAGTTAGACAGTCTGT	0.287			T	BRAF	papillary thyroid							
ZAN	7455	broad.mit.edu	37	7	100350019	100350019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100350019delA	uc003uwj.3	+	13	2456	c.2291delA	c.(2290-2292)gaafs	p.E764fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	764	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCCCACAGAAAAACCCACC	0.527												
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100674925C>T	uc003uxp.1	+	2	281	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	76						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)					CTACAAATGTCGTGGAGCCAA	0.453												
PPP1R3A	5506	broad.mit.edu	37	7	113558410	113558410	+	Silent	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:113558410A>C	uc010ljy.1	-	0	673	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	214	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGTACCAACAGAAGTTTCAT	0.353												
CALD1	800	broad.mit.edu	37	7	134552504	134552504	+	Missense_Mutation	SNP	G	G	A	rs142583902		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:134552504G>A	uc003vrz.3	+	2	486	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CALD1_uc003vry.3_Missense_Mutation_p.R7H|CALD1_uc003vsb.3_Missense_Mutation_p.R7H|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R7H	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	7					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TTTGAGCGTCGCAGAGAACTT	0.433												
NUP205	23165	broad.mit.edu	37	7	135311087	135311087	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:135311087C>T	uc003vsw.3	+	32	4802	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1591					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R1591H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATGACATGCGCCCAGAAAC	0.423												
FAM115A	9747	broad.mit.edu	37	7	143573699	143573699	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:143573699C>A	uc003wdo.2	-	1	136	c.3G>T	c.(1-3)atG>atT	p.M1I	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.M1I	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	1										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGGAGTCGCCATGGCTCTAT	0.473												
ANK1	286	broad.mit.edu	37	8	41530099	41530099	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:41530099G>A	uc003xok.3	-	37	4953	c.4869C>T	c.(4867-4869)gaC>gaT	p.D1623D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.D1623D|ANK1_uc003xoj.3_Silent_p.D1623D|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.D1664D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1623	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.E1622K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTGTGTCGTCCTCCACAA	0.562												
TRHR	7201	broad.mit.edu	37	8	110131345	110131345	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:110131345G>A	uc003ymz.4	+	1	947	c.858G>A	c.(856-858)gtG>gtA	p.V286V		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	286						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGACTCTAGTGGTTGTCAACT	0.418												
TRPS1	7227	broad.mit.edu	37	8	116599737	116599737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116599737delC	uc003yny.3	-	4	2769	c.2191delG	c.(2191-2193)gaafs	p.E731fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.E722fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.E718fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.E718fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	718	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTCCTGTTCCTGGCAGTGA	0.507									Langer-Giedion syndrome			
TRPS1	7227	broad.mit.edu	37	8	116632180	116632180	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116632180C>T	uc003yny.3	-	2	723	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TRPS1_uc011lhy.2_Missense_Mutation_p.E40K|TRPS1_uc003ynz.3_Missense_Mutation_p.E36K|TRPS1_uc010mcy.3_Missense_Mutation_p.E36K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	36					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome			
COMMD5	28991	broad.mit.edu	37	8	146076337	146076337	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:146076337C>T	uc022bcr.1	-	0	387	c.387G>A	c.(385-387)gtG>gtA	p.V129V	COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Silent_p.V129V|COMMD5_uc003zen.3_Silent_p.V129V|COMMD5_uc003zeo.4_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.	129						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCCAAATACCACGCTGGCCA	0.652												
PIGO	84720	broad.mit.edu	37	9	35095288	35095288	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:35095288C>A	uc003zwd.3	-	1	671	c.275G>T	c.(274-276)aGa>aTa	p.R92I	PIGO_uc003zwe.3_Missense_Mutation_p.R92I|PIGO_uc003zwf.3_Missense_Mutation_p.R92I|PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	92					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGCTCTCTAGGCACGTG	0.582												
ANKRD18A	253650	broad.mit.edu	37	9	38586290	38586290	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:38586290T>C	uc004abg.4	-	11	2215	c.2137A>G	c.(2137-2139)Atg>Gtg	p.M713V	ANKRD18A_uc004abf.1_Missense_Mutation_p.M390V	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	713										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTTATTGTCATTTCTAGGCAT	0.279												
OR2K2	26248	broad.mit.edu	37	9	114090010	114090010	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:114090010T>C	uc011lwp.2	-	0	704	c.704A>G	c.(703-705)aAg>aGg	p.K235R		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGAAAAAGCCTTGTTTCTTCC	0.423												
STXBP1	6812	broad.mit.edu	37	9	130422360	130422360	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:130422360C>T	uc004brk.2	+	4	495	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	STXBP1_uc004brl.2_Missense_Mutation_p.R100W	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	100					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCTAAATACCGGGCTGCACA	0.527												
NLGN4X	57502	broad.mit.edu	37	X	5811228	5811228	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:5811228G>A	uc010ndi.3	-	6	2656	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	NLGN4X_uc004crp.3_Missense_Mutation_p.A714V|NLGN4X_uc010ndh.3_Missense_Mutation_p.A694V|NLGN4X_uc004crq.3_Missense_Mutation_p.A694V|NLGN4X_uc004crr.3_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.3_Missense_Mutation_p.A694V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	694					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.A694V(1)|p.M730V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACAGCGCCGCAAAAGCTAA	0.502												
VCX3B	425054	broad.mit.edu	37	X	8433516	8433516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:8433516G>T	uc011mht.2	+	1	332	c.25G>T	c.(25-27)Gga>Tga	p.G9*	VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	9						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGAGCCTCGGGACCTCCGGC	0.607												
DMD	1756	broad.mit.edu	37	X	32503062	32503062	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:32503062T>C	uc004dda.1	-	20	3021	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	926					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTCTGGCCTGCACATCAGA	0.408												
CXorf22	170063	broad.mit.edu	37	X	36007487	36007487	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:36007487G>A	uc004ddj.3	+	15	2831	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	922										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAGCAGGGCTTCAGTTCT	0.368												
ZC4H2	55906	broad.mit.edu	37	X	64140054	64140054	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:64140054T>C	uc004dvu.3	-	2	461	c.305A>G	c.(304-306)aAg>aGg	p.K102R	ZC4H2_uc004dvv.3_Missense_Mutation_p.K79R|ZC4H2_uc022byd.1_Missense_Mutation_p.K79R|ZC4H2_uc022byc.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.2_Missense_Mutation_p.K102R|ZC4H2_uc011mov.2_Missense_Mutation_p.K79R|ZC4H2_uc004dvw.2_Missense_Mutation_p.K102R	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	102							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTTCAGTGGCTTATACTCATC	0.473												
EDA	1896	broad.mit.edu	37	X	69250324	69250324	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:69250324T>C	uc004dxs.3	+	5	989	c.747T>C	c.(745-747)gcT>gcC	p.A249A	EDA_uc011mpj.2_Silent_p.A249A|EDA_uc004dxr.3_Silent_p.A249A	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	249					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCCAGCCAGCTGTGGTGCATC	0.502											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDX4	1046	broad.mit.edu	37	X	72674301	72674301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:72674301G>A	uc011mqk.2	+	2	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GTGGAGGCTCGGTGCAAAGTG	0.448												
RLIM	51132	broad.mit.edu	37	X	73811531	73811531	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:73811531T>C	uc004ebu.3	-	4	1909	c.1619A>G	c.(1618-1620)gAt>gGt	p.D540G	RLIM_uc004ebw.3_Missense_Mutation_p.D540G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCATCATCATCCTCATTTAA	0.458												
CYLC1	1538	broad.mit.edu	37	X	83128534	83128534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83128534C>G	uc004eei.1	+	3	839	c.818C>G	c.(817-819)tCa>tGa	p.S273*	CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGAATAATTCAAAGAATTAT	0.318												
RPS6KA6	27330	broad.mit.edu	37	X	83361995	83361995	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83361995T>C	uc004eej.2	-	13	1201	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	RPS6KA6_uc011mqt.2_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S286G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	389	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAACAAAGCTGAATCCTTTG	0.343												
