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
PRAMEF12	390999	broad.mit.edu	37	1	12836029	12836029	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:12836029T>C	uc001aui.3	+	1	658	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	211										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)		GGTGGAAGTGTGCTGCCCGTG	0.517												
SGIP1	84251	broad.mit.edu	37	1	67133216	67133216	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:67133216C>T	uc001dcr.3	+	8	692	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|AK298300_uc010ope.1_Intron	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	159					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCACAGAGGCGCAGCCCGGT	0.418												
GBP1	2633	broad.mit.edu	37	1	89521850	89521850	+	Missense_Mutation	SNP	C	C	T	rs140785577		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:89521850C>T	uc001dmx.2	-	7	1437	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	406					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGCTGAGCAACGATCTGATGA	0.408												
NBPF10	100132406	broad.mit.edu	37	1	145311916	145311916	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:145311916A>G	uc021oun.1	+	0					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021oul.1_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_5'UTR|NBPF10_uc010oyl.2_5'UTR|NBPF10_uc021oum.1_Intron|NBPF10_uc021ouo.1_5'Flank			A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.									p.I389V(3)|p.Y388>?(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCCTTTTACATATTGGAGCA	0.458												
HRNR	388697	broad.mit.edu	37	1	152188002	152188002	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:152188002T>C	uc001ezt.1	-	2	6179	c.6103A>G	c.(6103-6105)Agc>Ggc	p.S2035G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567												
BCAN	63827	broad.mit.edu	37	1	156617796	156617796	+	Silent	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:156617796A>G	uc001fpp.3	+	4	999	c.663A>G	c.(661-663)cgA>cgG	p.R221R	BCAN_uc001fpo.3_Silent_p.R221R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	221	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCCACGAGAGGCCTGTT	0.532												
PYHIN1	149628	broad.mit.edu	37	1	158914718	158914718	+	Silent	SNP	C	C	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:158914718C>A	uc001ftb.3	+	6	1495	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	PYHIN1_uc001ftc.3_Silent_p.P406P|PYHIN1_uc001ftd.3_Silent_p.P415P|PYHIN1_uc001fte.3_Silent_p.P406P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	415					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGGCACTACCCCAGGAACAGA	0.433												
OR2T6	254879	broad.mit.edu	37	1	248551593	248551593	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:248551593G>T	uc001iei.1	+	0	684	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M228I(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCATCAGATGACATCGGCTG	0.502												
ANO9	338440	broad.mit.edu	37	11	420522	420522	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:420522T>C	uc001lpi.2	-	18	1812	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	576						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGATGGCGTCCAGGCGGAT	0.687												
OR51L1	119682	broad.mit.edu	37	11	5020398	5020398	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:5020398T>C	uc010qyu.2	+	0	186	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTATTACTTTATTT	0.448												
LYVE1	10894	broad.mit.edu	37	11	10580685	10580685	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:10580685G>A	uc001miv.2	-	5	1228	c.942C>T	c.(940-942)acC>acT	p.T314T	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.T210T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	314					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		p.T314T(2)|p.T313S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463												
MRGPRX1	259249	broad.mit.edu	37	11	18955854	18955854	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:18955854A>C	uc001mpg.3	-	0	696	c.478T>G	c.(478-480)Tta>Gta	p.L160V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	160					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCACATAACATCCACTCC	0.557												
ATG2A	23130	broad.mit.edu	37	11	64663974	64663974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:64663974G>A	uc001obx.3	-	38	5502	c.5387C>T	c.(5386-5388)gCc>gTc	p.A1796V	ATG2A_uc001obw.3_Missense_Mutation_p.A561V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1796							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCCAGGGCGGCAGAGGCTGT	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DSCAML1	57453	broad.mit.edu	37	11	117306485	117306485	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:117306485C>T	uc001prh.1	-	26	4933	c.4931G>A	c.(4930-4932)gGt>gAt	p.G1644D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1584					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCCCCTTCACCTTGAGCAGA	0.522												
VPS11	55823	broad.mit.edu	37	11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:118941054C>T	uc010ryx.2	+	4	619	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	VPS11_uc010ryy.2_Missense_Mutation_p.R41C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517												
ROBO4	54538	broad.mit.edu	37	11	124765757	124765757	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:124765757A>C	uc001qbg.3	-	4	871	c.731T>G	c.(730-732)cTg>cGg	p.L244R	ROBO4_uc010sas.2_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	244					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACATTTTCCAGCTGAATTCG	0.602												
PTPN6	5777	broad.mit.edu	37	12	7069548	7069548	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:7069548T>C	uc001qsb.2	+	13	1865	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	541					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACATCACCTATCCCCCAGCCA	0.647												
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
ZC3H13	23091	broad.mit.edu	37	13	46559437	46559437	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr13:46559437T>C	uc010tfw.1	-	8	1721	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G	ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	572	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTACCCTTTTCAGGTAACTC	0.358												
OR4K13	390433	broad.mit.edu	37	14	20502502	20502502	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr14:20502502C>T	uc010tkz.2	-	0	416	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGAGCACCCGTGGGCTCAT	0.488												
NIPA2	81614	broad.mit.edu	37	15	23006662	23006662	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23006662C>T	uc001yvb.3	-	9	1499	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NIPA2_uc001yux.3_Silent_p.R214R|NIPA2_uc001yuy.3_Silent_p.R214R|NIPA2_uc001yuz.3_Silent_p.R214R|NIPA2_uc010ayb.3_Silent_p.R195R|NIPA2_uc001yva.3_Silent_p.R195R	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	214						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CCAGGGGATGCCGCAGCACAG	0.502												
MKRN3	7681	broad.mit.edu	37	15	23811322	23811322	+	Silent	SNP	C	C	T	rs36072495	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23811322C>T	uc001ywh.4	+	0	869	c.393C>T	c.(391-393)ggC>ggT	p.G131G	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	131						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAGGGTGGCGTTTCGCCGC	0.622												
CLCN7	1186	broad.mit.edu	37	16	1507700	1507700	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:1507700C>T	uc002clv.2	-	7	843	c.733G>A	c.(733-735)Gga>Aga	p.G245R	CLCN7_uc002clw.2_Missense_Mutation_p.G221R	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	245						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTTACCTTTCCCACGGCCAGG	0.632												
PKD1	5310	broad.mit.edu	37	16	2147417	2147417	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:2147417C>T	uc002cos.1	-	32	10517	c.10308G>A	c.(10306-10308)caG>caA	p.Q3436Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3436					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						CCCGTGCCAGCTGCCGCAGAT	0.677												
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:20043354C>T	uc002dgu.1	-	1	927	c.765G>A	c.(763-765)gcG>gcA	p.A255A	GPR139_uc010vaw.1_Silent_p.A162A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532												
KRT13	3860	broad.mit.edu	37	17	39659672	39659672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39659672C>T	uc002hwu.1	-	2	665	c.602G>A	c.(601-603)cGc>cAc	p.R201H	KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc010wfr.2_Missense_Mutation_p.R94H|KRT13_uc010cxo.3_Missense_Mutation_p.R201H|KRT13_uc021txk.1_Missense_Mutation_p.R94H	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CACGCTCTGGCGCAGGGCCAG	0.478												
KRT14	3861	broad.mit.edu	37	17	39741254	39741254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39741254C>T	uc002hxf.2	-	1	642	c.581G>A	c.(580-582)cGt>cAt	p.R194H	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	194	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCGGCCAGACGGGCATTGTC	0.502												
MED13	9969	broad.mit.edu	37	17	60060308	60060308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:60060308C>T	uc002izo.3	-	15	3133	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1019					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGAGGAGTCCGAGGAGTCCT	0.512												
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr18:34261459_34261460delAG	uc021uiv.1	+	14	1993_1994	c.1896_1897delAG	c.(1894-1899)gcagagfs	p.A632fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	457	Poly-Ser.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460												
CATSPERD	257062	broad.mit.edu	37	19	5778542	5778542	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:5778542G>A	uc002mda.3	+	21	2313	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	751						integral to membrane											CGCACAGCACGCGGCCGCAGG	0.612												
MUC16	94025	broad.mit.edu	37	19	9067788	9067788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:9067788delG	uc002mkp.3	-	2	19862	c.19658delC	c.(19657-19659)acafs	p.T6553fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6555	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6552A(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						CAGCATATCTGTGGTCTTCAC	0.473												
PAPL	390928	broad.mit.edu	37	19	39591660	39591660	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:39591660C>T	uc002oki.3	+	7	1153	c.879C>T	c.(877-879)aaC>aaT	p.N293N	PAPL_uc010egl.3_Missense_Mutation_p.T252M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	293						extracellular region	acid phosphatase activity|metal ion binding										ACTGCTCCAACGCAGATCTGG	0.612												
KDELR1	10945	broad.mit.edu	37	19	48887570	48887570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:48887570C>T	uc002pjb.1	-	3	716	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KDELR1_uc002pja.1_Missense_Mutation_p.G112D	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	174					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCGAAGAAGCCCTCGAAATG	0.542												
TRPM4	54795	broad.mit.edu	37	19	49705399	49705400	+	Splice_Site	INS	-	-	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:49705399_49705400insT	uc002pmw.3	+	20	3239	c.3131_splice	c.e20+1	p.S1044_splice	TRPM4_uc010emu.3_Splice_Site_p.S899_splice|TRPM4_uc010yak.2_Splice_Site_p.S508_splice|TRPM4_uc002pmx.3_Splice_Site_p.S870_splice|TRPM4_uc010emv.3_Splice_Site_p.S929_splice|TRPM4_uc010yal.2_Splice_Site_p.S690_splice|TRPM4_uc002pmy.3_Splice_Site_p.S386_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1044					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCATGTTCAGGTGAGGCCTGAC	0.550												
ANKRD53	79998	broad.mit.edu	37	2	71209104	71209104	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71209104C>T	uc002shl.4	+	3	857	c.656C>T	c.(655-657)gCc>gTc	p.A219V	ANKRD53_uc002shk.4_Missense_Mutation_p.A219V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	219										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTGGCAGCCCGTGACGGC	0.577												
DYSF	8291	broad.mit.edu	37	2	71871138	71871138	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71871138T>C	uc010fen.3	+	41	4712	c.4571T>C	c.(4570-4572)aTa>aCa	p.I1524T	DYSF_uc010fei.3_Missense_Mutation_p.I1502T|DYSF_uc010feh.3_Missense_Mutation_p.I1492T|DYSF_uc002sig.4_Missense_Mutation_p.I1471T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1516T|DYSF_uc010fee.3_Missense_Mutation_p.I1506T|DYSF_uc010fef.3_Missense_Mutation_p.I1523T|DYSF_uc002sie.3_Missense_Mutation_p.I1485T|DYSF_uc010feo.3_Missense_Mutation_p.I1517T|DYSF_uc010fej.3_Missense_Mutation_p.I1493T|DYSF_uc010fel.3_Missense_Mutation_p.I1472T|DYSF_uc010fem.3_Missense_Mutation_p.I1507T|DYSF_uc002sif.3_Missense_Mutation_p.I1486T|DYSF_uc010fek.3_Missense_Mutation_p.I1503T|DYSF_uc010yqy.2_Missense_Mutation_p.I366T|DYSF_uc010yqz.2_Missense_Mutation_p.I246T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1485						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCTCCATAGGGGAGAGG	0.502												
FAM123C	205147	broad.mit.edu	37	2	131521578	131521578	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:131521578C>T	uc021voy.1	+	0	1933	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	FAM123C_uc002trw.2_Missense_Mutation_p.P645S|FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	645										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGAAGGAGCCTGGGCCACC	0.602												
SCN9A	6335	broad.mit.edu	37	2	167085307	167085307	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:167085307C>T	uc010fpl.3	-	21	4408	c.4067G>A	c.(4066-4068)cGt>cAt	p.R1356H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(2)|p.R1356L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATTCGGAACGATTTGGAAC	0.398												
HDLBP	3069	broad.mit.edu	37	2	242173290	242173290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:242173290A>G	uc002waz.3	-	23	3406	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	HDLBP_uc002wba.3_Missense_Mutation_p.I1078T|HDLBP_uc021vzg.1_Missense_Mutation_p.I1045T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1078	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCAACCGGATTTGGGTAAT	0.498												
SLC24A3	57419	broad.mit.edu	37	20	19677519	19677519	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:19677519C>T	uc002wrl.3	+	13	1767	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	524						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGCGTGCCTGACTGCAT	0.592												
ZSWIM1	90204	broad.mit.edu	37	20	44512381	44512381	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:44512381T>C	uc021wem.1	+	0	1150	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	ZSWIM1_uc010ghi.3_Missense_Mutation_p.C384R	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	384							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGCAGCTGCTACTTTAA	0.597												
COL20A1	57642	broad.mit.edu	37	20	61938888	61938888	+	Silent	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:61938888C>G	uc011aau.2	+	5	643	c.543C>G	c.(541-543)gtC>gtG	p.V181V	COL20A1_uc011aav.2_Silent_p.V2V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	181	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACATGGTCTTCCTGGTGG	0.652												
TMPRSS2	7113	broad.mit.edu	37	21	42842599	42842599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr21:42842599C>T	uc010gor.3	-	10	1319	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G383R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	383	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCCCCACCCGGAAATCCAG	0.582			T	"""ERG, ETV1, ETV4, ETV5"""	prostate							
FBXO7	25793	broad.mit.edu	37	22	32887162	32887162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:32887162C>T	uc003amq.3	+	5	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.3_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	321					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTTACCCGACAAGGTAA	0.368												
LINC00207	388910	broad.mit.edu	37	22	44967271	44967271	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:44967271G>A	uc011aqg.2	+	3		c.274G>A			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						cccactttacggatgaggaaa	0.567												
CCK	885	broad.mit.edu	37	3	42305011	42305011	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:42305011C>T	uc021wwk.1	-	1	239	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	38					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.E38K(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGGGCGCCTCCTCTGCCCGC	0.711												
MANF	7873	broad.mit.edu	37	3	51425306	51425306	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:51425306T>C	uc003dbc.3	+	2	443	c.361T>C	c.(361-363)Tat>Cat	p.Y121H		NM_006010	NP_006001	P55145	MANF_HUMAN	Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.	121					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						TGAGCTTAAGTATGGTGAGTA	0.458												
DKK2	27123	broad.mit.edu	37	4	107847047	107847047	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:107847047G>T	uc003hyi.3	-	1	987	c.282C>A	c.(280-282)caC>caA	p.H94Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	94	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGATCCTTGGTGGGGACTGT	0.502												
DCHS2	54798	broad.mit.edu	37	4	155305544	155305544	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:155305544G>A	uc003inw.2	-	1	210	c.210C>T	c.(208-210)aaC>aaT	p.N70N	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctggttttgcgttctcttcct	0.507												
ODZ3	55714	broad.mit.edu	37	4	183713527	183713527	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:183713527C>T	uc003ivd.1	+	24	5777	c.5702C>T	c.(5701-5703)aCc>aTc	p.T1901I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1901					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCTCGCCACACCATGCAGACC	0.547												
GPR98	84059	broad.mit.edu	37	5	89969926	89969926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:89969926G>A	uc003kju.3	+	22	5081	c.4985G>A	c.(4984-4986)cGt>cAt	p.R1662H	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1662	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R1662H(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTATTTCCGTGTGACATTG	0.393												
PCDHB9	56127	broad.mit.edu	37	5	140568233	140568233	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:140568233G>A	uc003liw.1	+	1	1339	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	448	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592												
FAT2	2196	broad.mit.edu	37	5	150923883	150923883	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:150923883G>T	uc003lue.4	-	8	6818	c.6805C>A	c.(6805-6807)Cct>Act	p.P2269T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2269	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGTGGGAGGGTTATCATTG	0.502												
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:156592924C>T	uc003lwn.3	-	0	356	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	86						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542												
HLA-C	3106	broad.mit.edu	37	6	31322411	31322411	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:31322411C>T	uc003nth.2	-	6	1099	c.1045_splice	c.e6+1	p.C349_splice	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.C228_splice|HLA-C_uc003nti.1_Splice_Site	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	350					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACCACTTACACGCAGCCTGAG	0.572												
TRAM2	9697	broad.mit.edu	37	6	52370483	52370483	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:52370483G>A	uc003paq.3	-	8	938	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_Non-coding_Transcript	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	263	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542												
TCP10	6953	broad.mit.edu	37	6	167790118	167790118	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:167790118G>A	uc003qvv.1	-	4	704	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TCP10_uc003qvu.3_Silent_p.P164P|TCP10_uc003qvw.3_Silent_p.P140P	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	191						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GACGTCTCCCGGGAGGACTTT	0.493												
NXPH1	30010	broad.mit.edu	37	7	8791118	8791118	+	Missense_Mutation	SNP	G	G	C	rs145299363	by1000genomes	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:8791118G>C	uc003srv.3	+	2	1446	c.535G>C	c.(535-537)Gca>Cca	p.A179P	NXPH1_uc011jxh.2_Missense_Mutation_p.A62P	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	179	IV (linker domain).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTTGACTTGGCACAACAAAC	0.398												
THSD7A	221981	broad.mit.edu	37	7	11422186	11422186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:11422186G>A	uc021zzo.1	-	23	4721	c.4469C>T	c.(4468-4470)aCa>aTa	p.T1490I	THSD7A_uc021zzn.1_Missense_Mutation_p.T1488I|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCACACTGTTCGGGAAGA	0.418										HNSCC(18;0.044)		
DNAH11	8701	broad.mit.edu	37	7	21599234	21599234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:21599234G>A	uc003svc.3	+	3	737	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	236	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGTCAAACGAAAGGATAAT	0.313									Kartagener syndrome			
GRB10	2887	broad.mit.edu	37	7	50742172	50742172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:50742172C>G	uc003tpi.2	-	2	369	c.323G>C	c.(322-324)aGg>aCg	p.R108T	GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	108					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCGCTGCACCCTCTGCCTCGG	0.657									Russell-Silver syndrome			
PCLO	27445	broad.mit.edu	37	7	82763793	82763793	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:82763793T>C	uc003uhx.2	-	2	3362	c.3073A>G	c.(3073-3075)Aaa>Gaa	p.K1025E	PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	971					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTTTTTTTCTGTTTCT	0.408												
RELN	5649	broad.mit.edu	37	7	103270455	103270455	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:103270455C>T	uc022ajr.1	-	19	2794	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	RELN_uc022ajq.1_Silent_p.E878E|RELN_uc010liz.3_Silent_p.E878E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	878					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAGTGACCTCCACAAGAT	0.408												
TAS2R39	259285	broad.mit.edu	37	7	142881262	142881262	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:142881262G>A	uc011ksw.2	+	0	751	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGGTCCAACGACCCCAGCAT	0.498												
OR2A5	393046	broad.mit.edu	37	7	143748162	143748162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:143748162C>T	uc011ktw.2	+	0	668	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223V(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGCATCCTGGCGGCCATCTTG	0.607												
TEX15	56154	broad.mit.edu	37	8	30695500	30695500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:30695500G>A	uc003xil.3	-	2	7151	c.7151C>T	c.(7150-7152)aCg>aTg	p.T2384M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2384										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTTTGGCGTTAAATGATT	0.388												
ADAM18	8749	broad.mit.edu	37	8	39502901	39502901	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:39502901T>C	uc003xni.3	+	10	1009	c.954T>C	c.(952-954)gcT>gcC	p.A318A	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.A294A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	318	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTATTATAGCTCAACTGCTTG	0.333												
IL7	3574	broad.mit.edu	37	8	79710323	79710323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:79710323C>T	uc003ybg.3	-	1	732	c.131G>A	c.(130-132)aGc>aAc	p.S44N	IL7_uc022awh.1_Missense_Mutation_p.S44N|IL7_uc022awi.1_Missense_Mutation_p.S44N|IL7_uc022awj.1_Missense_Mutation_p.S44N|IL7_uc003ybh.3_Intron|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	44					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TTGATCGATGCTGACCATTAG	0.353												
GPR20	2843	broad.mit.edu	37	8	142366995	142366995	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:142366995G>A	uc022bby.1	-	0	1029	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	GPR20_uc003ywf.3_Silent_p.A343A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	343						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGAGGGCCGGCACTGAGGA	0.667												
C9orf131	138724	broad.mit.edu	37	9	35045456	35045456	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:35045456A>G	uc003zvw.3	+	1	2859	c.2830A>G	c.(2830-2832)Aag>Gag	p.K944E	C9orf131_uc003zvu.3_Missense_Mutation_p.K896E|C9orf131_uc003zvv.3_Missense_Mutation_p.K871E|C9orf131_uc003zvx.3_Missense_Mutation_p.K909E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	944										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCAGCCAAAAAGAGAGAGCA	0.532												
COL15A1	1306	broad.mit.edu	37	9	101797331	101797331	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:101797331G>A	uc004azb.1	+	17	2321	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	705	Triple-helical region 2 (COL2).		P -> L (in dbSNP:rs41308900).		angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGACCCCCGGGGAAAAAGG	0.612												
EIF2S3	1968	broad.mit.edu	37	X	24094874	24094877	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:24094874_24094877delCAAT	uc004dbc.3	+	11	1412_1415	c.1391_1394delCAAT	c.(1390-1395)acaatcfs	p.T464fs		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	464						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGAGTGACAATCAAGCCAACA	0.348												
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424												
