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
CHD5	26038	broad.mit.edu	37	1	6181182	6181182	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:6181182G>A	uc001amb.2	-	32	5006	c.4895C>T	c.(4894-4896)cCg>cTg	p.P1632L	CHD5_uc001alz.2_Missense_Mutation_p.P489L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1632					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCTGCTCCGGGGAGGGCGG	0.652												
C1orf200	644997	broad.mit.edu	37	1	9713992	9713992	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:9713992G>A	uc001aqc.4	-	1	499	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.									p.R117C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		Ggctgagagcggtagctcata	0.532												
RORC	6097	broad.mit.edu	37	1	151789268	151789268	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:151789268C>T	uc001ezh.3	-	3	278	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RORC_uc001ezg.3_Missense_Mutation_p.R36Q|RORC_uc010pdo.2_Missense_Mutation_p.R111Q|RORC_uc010pdp.2_Missense_Mutation_p.R57Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	57					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCTGGCTCCGGCGGAAGAA	0.637												
RPTN	126638	broad.mit.edu	37	1	152127687	152127687	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:152127687G>T	uc001ezs.1	-	2	1953	c.1888C>A	c.(1888-1890)Caa>Aaa	p.Q630K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	630	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGGTTTTGGTACCCTTCC	0.498												
HMCN1	83872	broad.mit.edu	37	1	185958748	185958748	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:185958748C>T	uc001grq.1	+	20	3406	c.3177C>T	c.(3175-3177)taC>taT	p.Y1059Y	HMCN1_uc001grr.1_Silent_p.Y400Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1059	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCCGGCTACGCCAAAAGGA	0.483												
IGFN1	91156	broad.mit.edu	37	1	201182690	201182690	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:201182690C>T	uc001gwc.3	+	11	8799	c.8669C>T	c.(8668-8670)aCc>aTc	p.T2890I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGATGCTACCCGGAGTTCC	0.562												
PLXDC2	84898	broad.mit.edu	37	10	20453469	20453469	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:20453469G>A	uc001iqg.1	+	6	1493	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCATTTGTCGTTGTCCACAG	0.443												
MYO3A	53904	broad.mit.edu	37	10	26463063	26463063	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:26463063C>T	uc001isn.2	+	29	4230	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1290					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTACACTTAGCCAAAGGTCAA	0.428												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
DKK1	22943	broad.mit.edu	37	10	54076434	54076434	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:54076434A>G	uc001jjr.3	+	3	822	c.668A>G	c.(667-669)cAt>cGt	p.H223R	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	223	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTACCAAGCATAGGAGAAAA	0.463												
TMEM26	219623	broad.mit.edu	37	10	63170245	63170245	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:63170245C>T	uc001jlo.2	-	5	1311	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	314						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACTTCTCAACGAAGCACGGA	0.557												
RUFY2	55680	broad.mit.edu	37	10	70154149	70154149	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:70154149A>G	uc001job.3	-	4	890	c.563T>C	c.(562-564)cTg>cCg	p.L188P	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.L119P|RUFY2_uc010qiw.2_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	202	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCAACCAGCAGCCCAACAAT	0.383												
COL17A1	1308	broad.mit.edu	37	10	105815707	105815707	+	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:105815707C>A	uc001kxr.3	-	17	1689	c.1520G>T	c.(1519-1521)aGg>aTg	p.R507M	COL17A1_uc010qqv.1_Missense_Mutation_p.R491M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	507	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGTATGCTCCTCCTGATCCT	0.597												
UBQLN3	50613	broad.mit.edu	37	11	5529360	5529360	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:5529360G>A	uc021qcw.1	-	0	1429	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L477L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	477										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGATGGCAGCCAGGGAGGC	0.552												
DCHS1	8642	broad.mit.edu	37	11	6646055	6646055	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:6646055G>A	uc001mem.1	-	19	7592	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2397	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557												
RAG1	5896	broad.mit.edu	37	11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	rs104894286		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:36597064G>A	uc021qgb.1	+	0	2210	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R737H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis			
OR5D18	219438	broad.mit.edu	37	11	55587399	55587399	+	Silent	SNP	C	C	T	rs147156620	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55587399C>T	uc010rin.2	+	0	294	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433												
OR8J3	81168	broad.mit.edu	37	11	55904467	55904467	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55904467G>A	uc010riz.2	-	0	728	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A242T(1)|p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATCATATGCGAAGCGCAGGT	0.403												
SLC43A3	29015	broad.mit.edu	37	11	57193641	57193641	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:57193641G>A	uc010rjr.2	-	2	347	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Missense_Mutation_p.A2V|SLC43A3_uc001nkh.3_Missense_Mutation_p.A2V|SLC43A3_uc009yme.3_Missense_Mutation_p.A2V|SLC43A3_uc001nki.3_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	2					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCCCTGGCCCGCCATGAGCAG	0.587												
DYNC2H1	79659	broad.mit.edu	37	11	103006524	103006524	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:103006524C>T	uc001phn.1	+	16	2565	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I807I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	807	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATTCATCGGCATTCCAA	0.343												
CD163L1	283316	broad.mit.edu	37	12	7519881	7519881	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:7519881C>T	uc010sge.2	-	17	4286	c.4260G>A	c.(4258-4260)gaG>gaA	p.E1420E	CD163L1_uc001qsy.3_Silent_p.E1410E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTCTCCATCTCATGGAATA	0.498												
KRT18	3875	broad.mit.edu	37	12	53346096	53346096	+	Missense_Mutation	SNP	G	G	A	rs147541172	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:53346096G>A	uc001sbe.3	+	6	1211	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	KRT18_uc009zmn.2_Missense_Mutation_p.R381H|KRT18_uc001sbg.3_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	381	Coil 2.|Interaction with DNAJB6.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCCACCTACCGCCGCCTGCTG	0.602												
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:109693958G>A	uc001tob.3	+	44	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602												
PITPNM2	57605	broad.mit.edu	37	12	123473301	123473301	+	Silent	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:123473301T>C	uc001uej.1	-	17	3049	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	PITPNM2_uc001uek.1_Silent_p.S944S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	950	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACGTCTGTTGACTCCCAGT	0.632												
MYH6	4624	broad.mit.edu	37	14	23861788	23861789	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr14:23861788_23861789delTC	uc001wjv.3	-	24	3395_3396	c.3324_3325delGA	c.(3322-3327)aagaaafs	p.K1108fs		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1108					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGTTTCTTCTGTAGTT	0.505												
SPTBN5	51332	broad.mit.edu	37	15	42160382	42160382	+	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:42160382C>A	uc001zos.3	-	33	6320	c.5987G>T	c.(5986-5988)cGg>cTg	p.R1996L	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2031					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTGGTCCCGCTGGTCCTG	0.642												
ATP8B4	79895	broad.mit.edu	37	15	50209193	50209193	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:50209193G>A	uc001zxu.3	-	19	2221	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	ATP8B4_uc010ber.3_Silent_p.D566D|ATP8B4_uc010ufd.2_Silent_p.D503D|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	693					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCATGTCGTCAGTCAGCA	0.408												
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:84257442C>T	uc002bjw.3	+	7	952	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458												
OR3A4P	390756	broad.mit.edu	37	17	3213978	3213978	+	Missense_Mutation	SNP	G	G	A	rs141261218	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:3213978G>A	uc002fvi.2	+	0	440	c.374G>A	c.(373-375)cGc>cAc	p.R125H						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GCCTATGACCGCTATCTGGCC	0.562												
DNAH9	1770	broad.mit.edu	37	17	11865572	11865572	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:11865572A>G	uc002gne.3	+	68	13301	c.13233_splice	c.e68+1	p.Q4411_splice	DNAH9_uc010coo.3_Splice_Site_p.Q3629_splice|DNAH9_uc002gnf.3_Splice_Site_p.Q723_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4411					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGACACACAGGTAAAGCTT	0.473												
ALDH3A1	218	broad.mit.edu	37	17	19642827	19642827	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:19642827G>A	uc002gwk.3	-	5	1724	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	ALDH3A1_uc010cqu.3_Silent_p.N370N|ALDH3A1_uc010vzd.2_Silent_p.N370N|ALDH3A1_uc002gwj.3_Silent_p.N370N|ALDH3A1_uc010cqv.3_Silent_p.N369N|ALDH3A1_uc002gwl.1_Silent_p.N297N			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	370					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACCTTGTCGTTGCTGGAGA	0.632												
DNAI2	64446	broad.mit.edu	37	17	72283178	72283178	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:72283178C>T	uc002jkf.3	+	3	518	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DNAI2_uc002jkg.3_Silent_p.D136D|DNAI2_uc010dfp.3_Intron	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	136					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATTTCAATGACGAGGAGGCCA	0.507									Kartagener syndrome			
AFG3L2	10939	broad.mit.edu	37	18	12356814	12356814	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:12356814C>G	uc002kqz.2	-	8	1237	c.1043G>C	c.(1042-1044)gGt>gCt	p.G348A		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	348					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTGGAGGACCAGTGAGAAT	0.418												
DSG4	147409	broad.mit.edu	37	18	28986155	28986155	+	Silent	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:28986155A>G	uc002kwr.2	+	11	1887	c.1752A>G	c.(1750-1752)ttA>ttG	p.L584L	DSG4_uc002kwq.2_Silent_p.L584L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	584					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			TGGTGCAGTTATATGCCTGTG	0.483												
THEG	51298	broad.mit.edu	37	19	362390	362390	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:362390C>T	uc002lol.3	-	7	993	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	THEG_uc002lom.3_Missense_Mutation_p.R293Q	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	317					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGAGGATCTCGGTCAGGAAC	0.597												
GPX4	2879	broad.mit.edu	37	19	1105195	1105195	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:1105195G>A	uc021umh.1	+	1	291	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPX4_uc021umg.1_Missense_Mutation_p.R32Q|GPX4_uc021umf.1_Missense_Mutation_p.R32Q	NM_001039848	NP_002076	P36969	GPX4_HUMAN	Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	32					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	TGCGCGTCCCGGGACGACTGG	0.672												
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:7808071C>T	uc002mht.2	-	6	1136	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527												
MUC16	94025	broad.mit.edu	37	19	9072932	9072932	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:9072932G>A	uc002mkp.3	-	2	14718	c.14514C>T	c.(14512-14514)acC>acT	p.T4838T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4837T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGAACCGGTGGTCCCCA	0.463												
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433												
ZNF345	25850	broad.mit.edu	37	19	37368940	37368940	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:37368940G>C	uc002oex.3	+	2	1589	c.1208G>C	c.(1207-1209)tGt>tCt	p.C403S	ZNF345_uc021utn.1_Missense_Mutation_p.C403S|ZNF345_uc002oey.4_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C403S|ZNF345_uc021utp.1_Missense_Mutation_p.C403S|ZNF345_uc021utq.1_Missense_Mutation_p.C403S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	403					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.E402Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAAGAATGTGGAAAGTCC	0.418												
KLC3	147700	broad.mit.edu	37	19	45849928	45849929	+	Frame_Shift_Ins	INS	-	-	G	rs141629020	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:45849928_45849929insG	uc002pbg.1	+	1	527_528	c.427_428insG	c.(427-429)cggfs	p.R143fs	KLC3_uc002pbe.3_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbf.1_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	129						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCAGCGGCGGCTTCGGGCC	0.713												
KIR3DL2	3811	broad.mit.edu	37	19	55341632	55341632	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:55341632C>T	uc002qhm.1	+						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.R413C|KIR3DL2_uc010esf.3_Missense_Mutation_p.R318C|KIR3DL2_uc021vbo.1_Missense_Mutation_p.R396C|KIR3DL2_uc002qhk.4_Missense_Mutation_p.R413C|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.						cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAAATCACTCGCCCTTCTCA	0.507												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
STON1-GTF2A1L	11036	broad.mit.edu	37	2	48960045	48960045	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:48960045G>C	uc021vhf.1	+						LHCGR_uc002rwu.4_Intron|LHCGR_uc002rwv.2_Intron	NM_001198593	NP_001185522	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 2, mRNA.						endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCAAGAAGGACATCGTTT	0.363												
DPP10	57628	broad.mit.edu	37	2	116548904	116548904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:116548904C>T	uc002tle.3	+	18	1705	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	DPP10_uc002tla.2_Nonsense_Mutation_p.R558*|DPP10_uc002tlb.2_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.2_Nonsense_Mutation_p.R554*|DPP10_uc002tlf.2_Nonsense_Mutation_p.R551*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	558					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTATGGACCGAAACCAGTA	0.289												
NCL	4691	broad.mit.edu	37	2	232325239	232325239	+	Missense_Mutation	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:232325239T>C	uc002vru.3	-	4	989	c.848A>G	c.(847-849)gAa>gGa	p.E283G	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	283					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGGCCATTTCCTTCTTTCG	0.433												
TOP1	7150	broad.mit.edu	37	20	39726941	39726941	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:39726941G>A	uc002xjl.3	+	10	1185	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	313					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGCCCAGACGGAAGCTCGGA	0.368			T	NUP98	AML*							
SLC12A5	57468	broad.mit.edu	37	20	44665416	44665416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:44665416A>G	uc010zxl.1	+	4	608	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	178					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAATTGCAACGAATGGTGT	0.612												
TFF2	7032	broad.mit.edu	37	21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:43767708C>T	uc002zaw.3	-	2	405	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005423	NP_005414	Q03403	TFF2_HUMAN	Homo sapiens trefoil factor 2 (TFF2), mRNA.	88	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602												
KRTAP10-2	386679	broad.mit.edu	37	21	45970888	45970888	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:45970888C>T	uc002zfi.1	-	0	501	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	152	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CAGGTGGGCACGCAGCACACA	0.617												
KRTAP10-7	386675	broad.mit.edu	37	21	46021573	46021573	+	Missense_Mutation	SNP	T	T	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:46021573T>G	uc002zfn.4	+	1	1062	c.1037T>G	c.(1036-1038)gTg>gGg	p.V346G	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	351	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCCTCCTGTGTGTCTCTCCTT	0.672												
CDC42EP1	11135	broad.mit.edu	37	22	37964570	37964570	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr22:37964570G>A	uc003asz.4	+	2	1322	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	307					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGTGGGAGGGGGTCCCCG	0.692												
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522												
VILL	50853	broad.mit.edu	37	3	38048114	38048114	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:38048114G>T	uc003chj.3	+	18	2666	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	VILL_uc003chl.3_Missense_Mutation_p.G794W	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	794	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACGATCAACGGGGGCCTGCG	0.672												
SHISA5	51246	broad.mit.edu	37	3	48510545	48510545	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:48510545G>A	uc003ctp.1	-	5	818	c.684C>T	c.(682-684)taC>taT	p.Y228Y	SHISA5_uc003ctm.2_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc011bbl.2_Silent_p.Y126Y|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.3_3'UTR	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	228	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						AGGCCGGGTTGTAAGGAGGCT	0.637												
POC1A	25886	broad.mit.edu	37	3	52156395	52156395	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:52156395C>T	uc003dcu.3	-	9	1299	c.981_splice	c.e9+1	p.L327_splice	POC1A_uc003dcv.3_Splice_Site_p.L289_splice|POC1A_uc003dcw.3_Splice_Site_p.L327_splice	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	327						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCACTTACCAGATTCCCCA	0.547												
EPHA6	285220	broad.mit.edu	37	3	97124120	97124120	+	Splice_Site	SNP	T	T	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:97124120T>A	uc010how.1	+	6	1774	c.1731_splice	c.e6+2	p.K577_splice		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	482						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGAGAAAGTAGGTCTTATT	0.353												
IMPG2	50939	broad.mit.edu	37	3	100964883	100964883	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:100964883C>G	uc003duq.2	-	11	1509	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	IMPG2_uc011bhe.2_Missense_Mutation_p.D299H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	436					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGCTGAAATCAAGTGGTGGA	0.468												
CASR	846	broad.mit.edu	37	3	122003194	122003194	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:122003194C>T	uc003eew.4	+	6	2861	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L	CASR_uc003eev.4_Missense_Mutation_p.P798L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	798					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGAAGCTGCCGGAGAACTTC	0.552												
PLXNA1	5361	broad.mit.edu	37	3	126708342	126708342	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:126708342C>T	uc003ejg.3	+	0	906	c.906C>T	c.(904-906)tgC>tgT	p.C302C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	302	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATTGGCTGCGAGCAGGCGG	0.662												
THPO	7066	broad.mit.edu	37	3	184090840	184090840	+	Missense_Mutation	SNP	G	G	A	rs144953270		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:184090840G>A	uc003fol.1	-	5	738	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	THPO_uc003fom.2_Missense_Mutation_p.R171W|THPO_uc021xii.1_Missense_Mutation_p.A169V|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	175					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGGGCCCGCCTGACGCAG	0.562												
DEFB131	644414	broad.mit.edu	37	4	9452176	9452176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr4:9452176delG	uc011bwt.2	+	1	149	c.149delG	c.(148-150)tgtfs	p.C50fs		NM_001040448	NP_001035538	P59861	DB131_HUMAN	Homo sapiens defensin, beta 131 (DEFB131), mRNA.	50					defense response to bacterium	extracellular region				lung(2)	2						ATTAGATACTGTGCTGACTTC	0.383												
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652												
MAST4	375449	broad.mit.edu	37	5	65892596	65892596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:65892596C>T	uc021xzk.1	+	0	421	c.113C>T	c.(112-114)tCg>tTg	p.S38L	MAST4_uc010iwz.3_Missense_Mutation_p.S38L|MAST4_uc003jur.4_Missense_Mutation_p.S38L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	38						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGTGCTTCCTCGGCCGAGTCC	0.731												
TAF9	6880	broad.mit.edu	37	5	68647987	68647987	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:68647987G>T	uc003jwa.3	-	4	512	c.420C>A	c.(418-420)atC>atA	p.I140I	TAF9_uc003jwb.3_Silent_p.I137I	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	140						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGATGCACGATTTCTTCCT	0.373												
SLCO6A1	133482	broad.mit.edu	37	5	101794118	101794138	+	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	uc003knn.3	-	5	1251_1271	c.1079_1099delTTAAAGATCTGAAACTTGGAA	c.(1078-1101)cttaaagatctgaaacttggaact>cct	p.360_367LKDLKLGT>P	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.3_In_Frame_Del_p.298_305LKDLKLGT>P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	360						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	0.285												
SEC24A	10802	broad.mit.edu	37	5	134033601	134033601	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:134033601G>A	uc003kzs.3	+	14	2412	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	SEC24A_uc011cxu.2_Missense_Mutation_p.R471Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	707					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATTTCTCGGTATTCAGCA	0.383												
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:145435652G>A	uc003lnt.3	+	7	1669	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562												
TRIM41	90933	broad.mit.edu	37	5	180651777	180651777	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:180651777G>A	uc003mne.2	+	0	1515	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.2_Missense_Mutation_p.V260M|TRIM41_uc003mnd.2_Missense_Mutation_p.V260M|TRIM41_uc003mnf.2_Non-coding_Transcript	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	260						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCACAGCGTGGTGCCATT	0.552												
MCM3	4172	broad.mit.edu	37	6	52141940	52141940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:52141940G>A	uc003pan.1	-	7	1200	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	364	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGGATAGCTCGGGGTGCAGTG	0.597												
BMP5	653	broad.mit.edu	37	6	55684540	55684540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:55684540C>T	uc003pcq.3	-	1	1308	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	BMP5_uc011dxf.2_Missense_Mutation_p.R199Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	199					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTATATCCGGAATTCAGC	0.368												
NOX3	50508	broad.mit.edu	37	6	155764472	155764472	+	Missense_Mutation	SNP	C	C	T	rs142034685		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:155764472C>T	uc003qqm.3	-	4	524	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	141	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGGAAAGTGCGGCCAGAAGT	0.577												
DTX2	113878	broad.mit.edu	37	7	76109950	76109950	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:76109950A>G	uc011kgk.1	+						DTX2_uc003uff.4_Missense_Mutation_p.I42V|DTX2_uc003ufg.4_Missense_Mutation_p.I42V|DTX2_uc003ufh.4_Missense_Mutation_p.I42V|DTX2_uc003ufj.4_Missense_Mutation_p.I42V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTGCAGCTTCATCGAGCAGCA	0.662												
CALCR	799	broad.mit.edu	37	7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:93067382G>A	uc003umv.2	-	12	1322	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	323					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348												
LAMB1	3912	broad.mit.edu	37	7	107600245	107600245	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:107600245G>A	uc003vev.2	-	16	2582	c.2421C>T	c.(2419-2421)tcC>tcT	p.S807S	LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	783	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACACGGAACTTAACG	0.572												
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:131195806_131195807insG	uc003vqw.4	-	1	744_745	c.486_487insC	c.(484-489)agcagcfs	p.S162fs	PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535												
PRSS58	136541	broad.mit.edu	37	7	141955123	141955123	+	Missense_Mutation	SNP	C	C	T	rs138718517		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:141955123C>T	uc003vxb.3	-	2	508	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	PRSS58_uc003vxc.4_Missense_Mutation_p.R63Q	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	63	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R63L(2)|p.L62P(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAATATCACCCGAAGCTTTCT	0.428												
ADAMDEC1	27299	broad.mit.edu	37	8	24251644	24251644	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:24251644C>G	uc003xdz.2	+	3	567	c.347C>G	c.(346-348)aCg>aGg	p.T116R	ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAATTACCACGAAACCTGAG	0.463												
FZD3	7976	broad.mit.edu	37	8	28385048	28385048	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:28385048G>A	uc003xgx.3	+	4	1300	c.771G>A	c.(769-771)ttG>ttA	p.L257L	FZD3_uc010lvb.3_Silent_p.L257L	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	257					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGATTTTTGCTTGAAGATC	0.378												
GPR124	25960	broad.mit.edu	37	8	37693258	37693258	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:37693258G>A	uc003xkj.3	+	12	2406	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	674					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGCGTGGCGTGGCCACCCC	0.652												
SBSPON	157869	broad.mit.edu	37	8	73993342	73993342	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:73993342G>A	uc003xzf.3	-	1	526	c.321C>T	c.(319-321)aaC>aaT	p.N107N		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	107	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										GCGCCCCGCCGTTCTGAGGCT	0.657												
VPS13B	157680	broad.mit.edu	37	8	100874087	100874087	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:100874087C>A	uc003yiv.3	+	57	11314	c.11203C>A	c.(11203-11205)Cgg>Agg	p.R3735R	VPS13B_uc003yiw.3_Silent_p.R3710R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3735					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTACAACCGGCAGGAGGA	0.657												
PKHD1L1	93035	broad.mit.edu	37	8	110463211	110463211	+	Silent	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:110463211A>T	uc003yne.3	+	40	6287	c.6183A>T	c.(6181-6183)ggA>ggT	p.G2061G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2061	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGCACGGGAGCTGAGCAAG	0.458										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM75D1	389763	broad.mit.edu	37	9	84609453	84609453	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:84609453C>A	uc004amn.3	+	3	4115	c.4068C>A	c.(4066-4068)acC>acA	p.T1356T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1356						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GGATGAAGACCTCTTTGCAGT	0.433												
ST6GALNAC6	30815	broad.mit.edu	37	9	130653179	130653179	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:130653179C>A	uc004bsp.1	-	4	560	c.441G>T	c.(439-441)gtG>gtT	p.V147V	ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	147					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGTTGCCCACATCAGCTG	0.607												
ZMYM3	9203	broad.mit.edu	37	X	70466243	70466243	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:70466243G>T	uc004dzh.2	-	14	2711	c.2532C>A	c.(2530-2532)gtC>gtA	p.V844V	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V844V|ZMYM3_uc004dzj.2_Silent_p.V832V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	844					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTTGCAGGAGACGCCCCGAT	0.597												
ERCC6L	54821	broad.mit.edu	37	X	71428507	71428507	+	Missense_Mutation	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:71428507A>T	uc004eaq.1	-	1	207	c.110T>A	c.(109-111)cTg>cAg	p.L37Q	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	37					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTTCTTCCAGGTCTCCATT	0.363												
SLC6A14	11254	broad.mit.edu	37	X	115590033	115590033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:115590033G>A	uc004eqi.3	+	13	1972	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GAACAACATCGTGGGGAAAGA	0.403												
ZNF280C	55609	broad.mit.edu	37	X	129339341	129339341	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:129339341G>A	uc004evm.3	-	16	2294	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTAAGCCGGAAGAATCAG	0.323												
F9	2158	broad.mit.edu	37	X	138643870	138643870	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:138643870G>A	uc004fas.1	+	7	1055	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	F9_uc004fat.1_Silent_p.T304T	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	342	Peptidase S1.		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGAATACACGAACATCTTCC	0.433												
F8	2157	broad.mit.edu	37	X	154194774	154194774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:154194774delT	uc004fmt.3	-	7	1369	c.1198delA	c.(1198-1200)actfs	p.T400fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	400	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTACCCAAGTTTTAGGATGC	0.448