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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GJB4	127534	broad.mit.edu	37	1	35226994	35226994	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:35226994G>A	ENST00000339480.1	+	2	509	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	47					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGGACGATGAGCAGAAGGA	0.592000													15	22					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357518	89357518	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:89357518C>A	ENST00000301030.4	-	5	760	c.300G>T	c.(298-300)atG>atT	p.M100I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M100I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	100						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGACAGCCCCATGCCAAACA	0.652000													30	89					1.13719e-10	1.24116e-10	1	1	0
ELAVL3	1995	broad.mit.edu	37	19	11577635	11577635	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11577635A>G	ENST00000359227.3	-	2	441	c.17T>C	c.(16-18)cTg>cCg	p.L6P	ELAVL3_ENST00000438662.2_Missense_Mutation_p.L6P|CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.L160P	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	6					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CATGGCCCCCAGTATCTGCTG	0.647000													3	20					0	0	1	0	0
FAM204A	63877	broad.mit.edu	37	10	120095149	120095149	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:120095149A>T	ENST00000369183.4	-	4	498	c.239T>A	c.(238-240)tTt>tAt	p.F80Y	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.F80Y	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	80								p.F80C(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CAATTCTTGAAATTTCTATGT	0.279000													4	22					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253736	134253736	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:134253736C>G	ENST00000524765.1	-	3	5003	c.459G>C	c.(457-459)aaG>aaC	p.K153N	B3GAT1_ENST00000392580.1_Missense_Mutation_p.K153N|B3GAT1_ENST00000312527.4_Missense_Mutation_p.K153N|B3GAT1_ENST00000537389.1_Missense_Mutation_p.K166N			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	153					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTCCGCGCAGCTTGTAGTTGC	0.731000													5	7					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	65					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73434064	73434064	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:73434064G>A	ENST00000263666.4	-	10	1767	c.1653C>T	c.(1651-1653)gaC>gaT	p.D551D	PDZRN3_ENST00000466780.1_Silent_p.D208D|PDZRN3_ENST00000462146.2_Silent_p.D208D|PDZRN3_ENST00000535920.1_Silent_p.D273D|PDZRN3_ENST00000479530.1_Silent_p.D268D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	551							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGTCCCACCGTCTTCGTCGT	0.567000													9	43					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7510047	7510047	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7510047C>T	ENST00000313599.3	-	19	4372	c.4315G>A	c.(4315-4317)Gac>Aac	p.D1439N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1439						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1439N(1)		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						AGCGATGTGTCGCTAGCATCT	0.443000													3	48					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48542418	48542418	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:48542418G>C	ENST00000358350.4	-	46	6851	c.6247C>G	c.(6247-6249)Ctc>Gtc	p.L2083V	FRYL_ENST00000503238.1_Missense_Mutation_p.L2083V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L2083V|FRYL_ENST00000507873.2_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2083					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAGAAATGAGTTTACTGAGG	0.393000													33	65					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791949	95791949	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:95791949G>A	ENST00000260766.3	+	2	1780	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	PLCE1_ENST00000371380.2_Silent_p.P382P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	382					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAACCCCCGTCAACAGTGG	0.468000													26	47					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958097	119958097	+	Missense_Mutation	SNP	G	G	A	rs143169543		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:119958097G>A	ENST00000543831.1	+	2	304	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V19I|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	19					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCAGAGGATCGTCCGCCTGTT	0.517000													5	75					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033131	41033131	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr21:41033131C>T	ENST00000380620.3	+	5	1237	c.645C>T	c.(643-645)tcC>tcT	p.S215S	B3GALT5_ENST00000398714.2_Silent_p.S215S|B3GALT5_ENST00000343118.4_Silent_p.S215S|B3GALT5_ENST00000380618.1_Silent_p.S215S|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	215					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CATTCTGCTCCGGCACCGGCT	0.507000													45	42					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7420445	7420445	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:7420445C>T	ENST00000399429.3	-	29	2394	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	752	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTCCAATTTCTCCTTTATCA	0.408000													21	152					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063719	180063719	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:180063719G>C	ENST00000367607.3	+	34	8897	c.8479G>C	c.(8479-8481)Gag>Cag	p.E2827Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2827						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGAAAAAGAAGAGATTTCCTC	0.393000													10	42					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3816705	3816705	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:3816705C>T	ENST00000262961.4	-	13	2080	c.2070G>A	c.(2068-2070)cgG>cgA	p.R690R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCGATCCTCCGCAGCAGGC	0.687000													17	15					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100318	3100318	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:3100318T>C	ENST00000336577.4	+	4	669	c.432T>C	c.(430-432)taT>taC	p.Y144Y	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	144					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TCATGAGCTATGCCCTGATGG	0.642000													18	53					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80171626	80171626	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:80171626A>T	ENST00000265081.6	+	24	3439	c.3359A>T	c.(3358-3360)cAg>cTg	p.Q1120L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1120					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAAGACCTGCAGAAGTGGACA	0.328000								Mismatch excision repair (MMR)					11	38					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109978085	109978085	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:109978085T>C	ENST00000424296.2	-	8	709	c.633A>G	c.(631-633)gcA>gcG	p.A211A	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Silent_p.A211A|AK9_ENST00000285397.5_Silent_p.A211A	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CGGCAATAAATGCCTAAATGG	0.343000													4	26					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834137	101834137	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:101834137A>G	ENST00000263468.8	+	6	2641	c.2371A>G	c.(2371-2373)Aca>Gca	p.T791A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T592A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	791							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAACATATTTACACAAGCTCA	0.373000													32	64					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103449974	103449974	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:103449974G>C	ENST00000361246.2	-	7	1098	c.810C>G	c.(808-810)tgC>tgG	p.C270W		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	270	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTCATACATGCAGACACCCA	0.522000													36	58					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47597912	47597912	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:47597912G>A	ENST00000273857.4	-	22	2954	c.2955C>T	c.(2953-2955)agC>agT	p.S985S	CORIN_ENST00000508498.1_Silent_p.S846S|CORIN_ENST00000505909.1_Silent_p.S948S|CORIN_ENST00000502252.1_Silent_p.S918S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	985	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGGCCCACCGCTGTCACCCT	0.502000													8	46					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170747	87170747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87170747G>A	ENST00000265724.3	-	19	2662	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	749	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R749*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTATTCTGTCGTTTTGTTTCA	0.318000													17	63					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912650	32912650	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:32912650T>C	ENST00000544455.1	+	11	4385	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	BRCA2_ENST00000380152.3_Silent_p.D1386D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTTGTCAGATTTAACTTTTT	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	27					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843668	22843668	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:22843668T>C	ENST00000360412.2	-	4	831	c.56A>G	c.(55-57)gAa>gGa	p.E19G	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E19G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGTTTGGTTTCTTGTATGTT	0.398000													17	51					0	0	1	0	0
MIR379	494328	broad.mit.edu	37	14	101488408	101488408	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:101488408T>C	ENST00000362218.3	+	0	43					NR_029871.1																						CCTGAAGAGATGGTAGACTAT	0.512000													4	44					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13776517	13776517	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:13776517T>C	ENST00000380567.1	+	16	2056	c.1184T>C	c.(1183-1185)tTa>tCa	p.L395S	OFD1_ENST00000340096.6_Missense_Mutation_p.L535S|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L495S			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	535					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTAAAGAGTTTAACTACTCAG	0.353000													12	6					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142718802	142718802	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:142718802G>C	ENST00000230173.6	+	10	1953	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q	GPR126_ENST00000367609.3_Missense_Mutation_p.E493Q|GPR126_ENST00000296932.8_Missense_Mutation_p.E465Q|GPR126_ENST00000367608.2_Missense_Mutation_p.E465Q	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	493					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TACTAATTTGGAAGGAAAAAT	0.403000													7	40					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							TTTGTGACTTCAAGAACCCTG	0.458000													3	34					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201008965	201008965	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008965C>T	ENST00000362061.3	-	44	5842	c.5616G>A	c.(5614-5616)agG>agA	p.R1872R	CACNA1S_ENST00000367338.3_Silent_p.R1853R|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1872					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGCATCACAGCCTTGGAGGAA	0.637000													29	52					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53708963	53708963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:53708963G>T	ENST00000262135.4	-	7	941	c.848C>A	c.(847-849)tCa>tAa	p.S283*	RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.S283*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	283					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCCATTGCTGAAAGAGCATT	0.323000													13	17					0.00010058	0.000104977	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20792842	20792842	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:20792842A>G	ENST00000359062.3	+	10	2242	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	734	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAATTAGGGAATTTATGAATT	0.308000													15	43					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43438566	43438566	+	Silent	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:43438566G>T	ENST00000282041.5	-	41	7225	c.7191C>A	c.(7189-7191)ctC>ctA	p.L2397L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2397					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCTTAAGATGAGCAGCACTT	0.438000													6	37					5.9392e-07	6.33736e-07	1	1	0
LPPR5	163404	broad.mit.edu	37	1	99422164	99422164	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99422164C>G	ENST00000370188.3	-	2	731		c.e2+1		LPPR5_ENST00000263177.4_Splice_Site	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN								integral to membrane	hydrolase activity										tGAACACATACCAAGAAATCG	0.353000													4	20					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080197	5080197	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5080197G>A	ENST00000321522.2	-	1	660	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAAGAATATGCACATAAGAA	0.398000													33	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677562	100677562	+	Silent	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:100677562G>C	ENST00000306151.4	+	3	2929	c.2865G>C	c.(2863-2865)gtG>gtC	p.V955V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	955	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTGACCACTTCTA	0.498000													5	558					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68364552	68364552	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:68364552T>A	ENST00000295121.6	-	6	763	c.647A>T	c.(646-648)gAg>gTg	p.E216V	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.E216V|WDR92_ENST00000406245.2_Missense_Mutation_p.E115V	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	216					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCTGTCAAACTCCAAGCTACA	0.368000													4	29					0	0	1	0	0
GCSH	2653	broad.mit.edu	37	16	81124263	81124263	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:81124263G>C	ENST00000315467.3	-	2	295	c.171C>G	c.(169-171)caC>caG	p.H57Q	GCSH_ENST00000566566.1_Missense_Mutation_p.H57Q	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	57						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TTACCCATTCGTGTTTCTCTG	0.368000													7	57					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41102669	41102669	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:41102669G>A	ENST00000421990.2	-	17	2047	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R507W|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R568W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R477W|AARSD1_ENST00000427569.2_Missense_Mutation_p.R394W	NM_001136042.2	NP_001129514.2																					GCCTCCATCCGCCGGCTCATC	0.577000													27	25					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28409928	28409928	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:28409928G>C	ENST00000394835.3	+	18	3638	c.3446G>C	c.(3445-3447)aGc>aCc	p.S1149T	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1025T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1149							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AATGTCTTTAGCACTGCCTAT	0.388000													18	62					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628434	205628434	+	Silent	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:205628434C>A	ENST00000367145.3	-	5	1885	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	530					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CGACCAGACCCAGGCCTGCGG	0.547000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	79					0.00307968	0.00314555	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													6	409					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722863	30722863	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:30722863T>C	ENST00000215790.7	-	1	172	c.8A>G	c.(7-9)aAg>aGg	p.K3R	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K3R|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	3						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCGTTGCTCTTCGCCATCCC	0.781000													3	13					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771596	99771596	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99771596C>A	ENST00000370185.3	+	7	1819	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.S383Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S283Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498000													24	62					4.47668e-21	5.05944e-21	1	1	0
LIMCH1	22998	broad.mit.edu	37	4	41652416	41652416	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:41652416G>A	ENST00000313860.7	+	13	1726	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	LIMCH1_ENST00000512820.1_Missense_Mutation_p.G546R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G404R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G392R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G392R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G387R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G943R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	558					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATAGGTAGACGGGAAAGTCAG	0.433000													11	47					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563311	22563311	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:22563311T>C	ENST00000419308.2	-	2	753	c.551A>G	c.(550-552)gAg>gGg	p.E184G	FOXA2_ENST00000319993.4_Missense_Mutation_p.E190G|FOXA2_ENST00000377115.4_Missense_Mutation_p.E184G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	184					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGGTAGATCTCGCTCAGCGT	0.582000													31	104					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000562109.1_Silent_p.A1006A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A1006A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTAGAGTTCGCTTTGGATT	0.507000													20	88					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54652230	54652230	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:54652230C>T	ENST00000406403.1	+	10	2845	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	CNOT3_ENST00000358389.3_Silent_p.S233S|CNOT3_ENST00000221232.5_Silent_p.S414S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	414	Gly/Ser-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					gtagtaacagcagtgccggtg	0.741000													7	14					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149153094	149153094	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:149153094G>C	ENST00000247930.4	-	2	343	c.20C>G	c.(19-21)tCa>tGa	p.S7*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGACAGAGGTGATGAGCGTTG	0.517000													41	22					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357568	118357568	+	Missense_Mutation	SNP	C	C	T	rs147786434		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:118357568C>T	ENST00000528052.1	+	8	775	c.704C>T	c.(703-705)aCg>aTg	p.T235M	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGTTTTGGAACGAACCAACAG	0.463000													27	70					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:38996982G>A	ENST00000355481.4	+	55	8712	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCAGCCCCCCGACCTTAGTGC	0.607000													32	56					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132577	37132577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:37132577C>A	ENST00000361487.6	+	2	705	c.480C>A	c.(478-480)taC>taA	p.Y160*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Y160*			P55771	PAX9_HUMAN	paired box 9	160					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACCACATCTACTCGTACCCCA	0.672000													32	62					2.47511e-08	2.67088e-08	1	1	0
TMEM117	84216	broad.mit.edu	37	12	44693489	44693489	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:44693489T>G	ENST00000266534.3	+	6	862	c.735T>G	c.(733-735)ttT>ttG	p.F245L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F141L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F245L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	245						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTGCTTCTTTTATCTTGGTCT	0.448000													36	121					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179007	65179007	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:65179007G>C	ENST00000310045.7	-	2	4342	c.2869C>G	c.(2869-2871)Ctg>Gtg	p.L957V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	947						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATTGGGCCAGTTTACCCCTA	0.393000													20	46					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247323032	247323032	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:247323032A>G	ENST00000472531.1	-	2	241	c.114T>C	c.(112-114)taT>taC	p.Y38Y	ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Silent_p.Y38Y|ZNF124_ENST00000340684.6_Silent_p.Y38Y|ZNF124_ENST00000543802.2_Silent_p.Y38Y	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCACGTCTCTATAGAGATTCT	0.418000													37	47					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966391	41966391	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:41966391G>A	ENST00000298919.7	+	10	1418	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E604K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	604							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGTACAATGAGAGCCTCGT	0.493000													19	52					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203186	56203186	+	Silent	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:56203186C>G	ENST00000361673.3	-	5	4446	c.4233G>C	c.(4231-4233)gtG>gtC	p.V1411V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1411							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTACTCTATCACACTTATCT	0.473000													18	67					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135533158	135533158	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:135533158C>G	ENST00000520727.1	-	14	3465	c.3166G>C	c.(3166-3168)Gtg>Ctg	p.V1056L	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1056L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1006L|ZFAT_ENST00000520356.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1068L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1056L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATTTCCACCACCTTCAAGCCA	0.413000													5	32					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062192	66062192	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:66062192G>A	ENST00000327259.4	+	2	619	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	159						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTATCACTACGTGCGGCGCAC	0.716000													5	17					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119912200	119912200	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:119912200G>T	ENST00000464295.1	-	4	750	c.305C>A	c.(304-306)gCt>gAt	p.A102D	GPR156_ENST00000461057.1_Missense_Mutation_p.A102D|GPR156_ENST00000315843.3_Missense_Mutation_p.A102D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	102						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAAGAGGTAAGCGCTACTGTA	0.413000													8	81					0.27861	0.27861	1	1	0
LRMP	4033	broad.mit.edu	37	12	25243014	25243014	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:25243014G>T	ENST00000354454.3	+	13	1318	c.489G>T	c.(487-489)ttG>ttT	p.L163F	LRMP_ENST00000547044.1_Missense_Mutation_p.L163F|LRMP_ENST00000548766.1_Missense_Mutation_p.L163F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	219					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GATTATCTTTGGGATTTAAGT	0.398000													26	89					9.39395e-14	1.04316e-13	1	1	0
HPS1	3257	broad.mit.edu	37	10	100195517	100195517	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:100195517C>T	ENST00000325103.6	-	4	363	c.130G>A	c.(130-132)Gag>Aag	p.E44K	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E44K|HPS1_ENST00000338546.5_Missense_Mutation_p.E44K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	44					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTGGTCCTCCAGGGCAGGG	0.542000									Hermansky-Pudlak syndrome				22	89					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43220610	43220610	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:43220610C>T	ENST00000236040.4	-	8	1315	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	LEPRE1_ENST00000296388.5_Missense_Mutation_p.M425I|LEPRE1_ENST00000397054.3_Missense_Mutation_p.M425I	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	425					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGATTTCCTTCATAAGGTTCC	0.562000													24	47					0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442672	442672	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:442672T>G	ENST00000408966.2	-	1	586	c.266A>C	c.(265-267)cAc>cCc	p.H89P		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	89						extracellular region				large_intestine(1)|lung(2)	3						AAACATCCGGTGGCCACCCAT	0.647000													130	132					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841233	13841233	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:13841233A>G	ENST00000265104.4	-	34	5595	c.5491T>C	c.(5491-5493)Tta>Cta	p.L1831L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1831	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCTAATAATCCAACCTTA	0.323000									Kartagener syndrome				16	56					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908353	32908353	+	Silent	SNP	C	C	T	rs117518550	by1000genomes	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:32908353C>T	ENST00000324868.8	-	1	483	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	152					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTGATTAGCCGCCAGGGCCT	0.652000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	54					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917483	4917483	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:4917483C>T	ENST00000399583.3	-	2	475	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RADIL_ENST00000536091.1_Silent_p.A96A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	96	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCGCTCCAGCGCCTCCTTCA	0.682000													30	62					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668030	59668030	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:59668030A>C	ENST00000521764.1	-	1	533	c.512T>G	c.(511-513)gTc>gGc	p.V171G		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	171					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTTTCATCGACCTCTTCCTC	0.448000													90	99					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96230191	96230191	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:96230191C>T	ENST00000376873.3	+	5	834	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CLDN10_ENST00000299339.2_Missense_Mutation_p.R204W	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	204					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CATGTCTTCTCGGACAAAGTA	0.388000													7	34					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704084	113704084	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:113704084G>T	ENST00000374431.3	-	4	793	c.410C>A	c.(409-411)gCc>gAc	p.A137D	LPAR1_ENST00000541779.1_Missense_Mutation_p.A138D|LPAR1_ENST00000358883.4_Missense_Mutation_p.A137D|LPAR1_ENST00000538760.1_Missense_Mutation_p.A138D|LPAR1_ENST00000374430.2_Missense_Mutation_p.A137D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	137					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTAAGTTGGCCACAGATGC	0.537000													70	172					2.02627e-32	2.31747e-32	1	1	0
MECOM	2122	broad.mit.edu	37	3	168807816	168807816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:168807816C>A	ENST00000464456.1	-	13	3982	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*	MECOM_ENST00000264674.3_Nonsense_Mutation_p.E1002*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.E937*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.E928*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.E938*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.E1116*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.E938*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.E937*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAACTCATCTCCAGGGCACTG	0.428000													23	546					2.27731e-05	2.40312e-05	1	1	0
MUC13	56667	broad.mit.edu	37	3	124646558	124646558	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:124646558A>C	ENST00000311075.3	-	2	370	c.332T>G	c.(331-333)gTa>gGa	p.V111G		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	111	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATGAATTTACATTTGTGGT	0.408000													101	214					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333400	27333400	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:27333400G>A	ENST00000289166.5	-	2	478	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	105										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCATGCAGCCGCACACTGTGC	0.652000													4	57					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20959337	20959337	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:20959337T>C	ENST00000298925.5	+	11	1240	c.1087T>C	c.(1087-1089)Tgt>Cgt	p.C363R	NELL1_ENST00000532434.1_Missense_Mutation_p.C335R|NELL1_ENST00000357134.5_Missense_Mutation_p.C335R|NELL1_ENST00000325319.5_Missense_Mutation_p.C278R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	335	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TACAGCAAAATGTATCTATGG	0.418000													13	28					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842088	32842088	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:32842088C>T	ENST00000341071.7	-	9	993	c.982G>A	c.(982-984)Gag>Aag	p.E328K	BSDC1_ENST00000449308.1_Missense_Mutation_p.E311K|BSDC1_ENST00000446293.2_Missense_Mutation_p.E328K|BSDC1_ENST00000419121.2_Missense_Mutation_p.E255K|BSDC1_ENST00000526031.1_Missense_Mutation_p.E216K|BSDC1_ENST00000413080.1_Missense_Mutation_p.E250K|BSDC1_ENST00000455895.2_Missense_Mutation_p.E311K			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	311							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGATGCCTCTAGCAGCTTT	0.612000													32	110					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7342957	7342957	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7342957G>A	ENST00000266563.5	+	2	167		c.e2-1		PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000266564.3_5'UTR|PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000434354.2_Splice_Site|PEX5_ENST00000455147.2_Splice_Site|PEX5_ENST00000545220.1_Intron	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGTCCATCAGAGAGCTGGCG	0.617000													7	116					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475069	5475069	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5475069C>T	ENST00000341449.2	+	1	432	c.351C>T	c.(349-351)gcC>gcT	p.A117A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGCTGGCCATGAGTTTTG	0.478000													28	80					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:17611496G>T	ENST00000381869.3	-	2	2294	c.1821C>A	c.(1819-1821)gcC>gcA	p.A607A	MTUS1_ENST00000262102.6_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433000													4	125					0.014758	0.0148357	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20782527	20782527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:20782527C>T	ENST00000404938.2	+	25	3704	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R573*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	573					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTAGAGTTTCGAGAAGTCTC	0.453000													9	33					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268170	52268170	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:52268170C>T	ENST00000442253.2	+	2	333	c.159C>T	c.(157-159)acC>acT	p.T53T	PAQR8_ENST00000360726.3_Silent_p.T53T	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	53					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ACATCCGCACCGGCTACCGCC	0.607000													24	49					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807624	86807624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:86807624G>T	ENST00000441037.2	+	10	1179	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.E93*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E362*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	362					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAAGAAAGAGAATATGCTGT	0.493000													12	23					1.08611e-07	1.16543e-07	1	1	0
ABTB1	80325	broad.mit.edu	37	3	127396654	127396654	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:127396654G>A	ENST00000468137.1	+	9	1187	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	ABTB1_ENST00000453791.2_Missense_Mutation_p.V191M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V191M|ABTB1_ENST00000232744.8_Missense_Mutation_p.V333M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	333						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTTCACTCACGTGCTCTACTA	0.647000													7	35					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24883912	24883912	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:24883912C>T	ENST00000396432.2	-	21	4329	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	ARHGAP21_ENST00000320481.6_Silent_p.L1068L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1280	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTGTCTTCAGATGAGCTG	0.313000													20	25					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66361134	66361134	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:66361134C>G	ENST00000273854.3	-	4	1638	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	EPHA5_ENST00000511294.1_Missense_Mutation_p.E346D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E346D|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	346	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGGATCAGACTCTCTCCTGA	0.468000										TSP Lung(17;0.13)			44	94					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141143525	141143525	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:141143525G>A	ENST00000389484.3	-	67	11439	c.10468C>T	c.(10468-10470)Ccc>Tcc	p.P3490S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3490	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGATCGGGAATACAGTTG	0.378000										TSP Lung(27;0.18)			18	84					0	0	1	0	0
STARD5	80765	broad.mit.edu	37	15	81605705	81605705	+	Silent	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:81605705G>C	ENST00000302824.6	-	6	559	c.534C>G	c.(532-534)acC>acG	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557000													22	96					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17032492	17032492	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:17032492C>T	ENST00000377833.4	-	29	4256	c.4191G>A	c.(4189-4191)ggG>ggA	p.G1397G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1397	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTGTGGCCCCAGACAGCT	0.507000													4	61					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216424251	216424251	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:216424251C>T	ENST00000366943.2	-	12	2547	c.2161G>A	c.(2161-2163)Gtt>Att	p.V721I	USH2A_ENST00000366942.3_Missense_Mutation_p.V721I|USH2A_ENST00000307340.3_Missense_Mutation_p.V721I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCAATAACGTTTGCTTTG	0.398000										HNSCC(13;0.011)			5	27					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432661	55432661	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:55432661G>T	ENST00000314259.3	+	1	48	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCAAAACAATGTGACTGAATT	0.363000													18	97					5.3912e-06	5.72067e-06	1	1	0
CTAGE9	643854	broad.mit.edu	37	6	132032136	132032136	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:132032136G>A	ENST00000314099.8	-	1	70	c.22C>T	c.(22-24)Cct>Tct	p.P8S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	8						integral to membrane				endometrium(1)|lung(1)	2						TAGGGCTGAGGGGTAGCACCA	0.587000													8	38					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87369146	87369146	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87369146A>T	ENST00000338056.3	+	6	960	c.549A>T	c.(547-549)gaA>gaT	p.E183D	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E166D|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E166D	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	183	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGGTGAAGAAGCAAATATGC	0.303000													13	34					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41164294	41164294	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:41164294G>A	ENST00000379845.3	-	1	215	c.83C>T	c.(82-84)tCa>tTa	p.S28L	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			AAGCCAGGCTGAGAAGGGCGC	0.582000													5	20					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42168666	42168666	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:42168666C>T	ENST00000225983.6	-	11	1685	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	HDAC5_ENST00000336057.5_Silent_p.Q453Q|HDAC5_ENST00000586802.1_Silent_p.Q453Q|HDAC5_ENST00000393622.2_Silent_p.Q453Q			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	453					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCTGCCGGGCCTGCTCCAGCA	0.642000													8	24					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101562619	101562619	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:101562619T>C	ENST00000284395.5	+	16	2275	c.1875T>C	c.(1873-1875)gcT>gcC	p.A625A	LRRK1_ENST00000388948.3_Silent_p.A628A			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	628					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTGCGTGCTCAGCTGCGGA	0.547000													27	88					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102852	3102852	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:3102852G>A	ENST00000378398.3	+	2	283	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000378391.2_Silent_p.P67P|PRDM16_ENST00000270722.5_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	67					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGGCTCGCCGTACGAGGCCC	0.672000			T	EVI1	"""MDS, AML"""								5	126					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179439191	179439191	+	Splice_Site	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:179439191C>T	ENST00000263966.3	+	8	1373	c.900_splice	c.e8-1	p.T301_splice	USP13_ENST00000496897.1_Splice_Site_p.T236_splice|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	301					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGTCTCAGACAGAGAATGGG	0.453000													19	295					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355182	175355182	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:175355182G>C	ENST00000367674.1	-	8	2471	c.1763C>G	c.(1762-1764)aCt>aGt	p.T588S	TNR_ENST00000263525.2_Missense_Mutation_p.T588S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	588	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTGAACTGAGTGGTGGCAGA	0.602000													29	142					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088925	43088925	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:43088925G>A	ENST00000359467.3	-	5	1587	c.1473C>T	c.(1471-1473)caC>caT	p.H491H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	491						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATCTCCTATGTGAGTTCTCT	0.398000													12	76					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96469913	96469913	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:96469913G>A	ENST00000453304.1	-	1	444	c.96C>T	c.(94-96)agC>agT	p.S32S	UNC5C_ENST00000506749.1_Silent_p.S32S|UNC5C_ENST00000504962.1_Silent_p.S32S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	32					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCCGCTGGCGCTGAGCAGGG	0.667000													11	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	21					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520484	176520484	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:176520484C>T	ENST00000393648.2	+	10	1357	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	FGFR4_ENST00000393637.1_Silent_p.P403P|FGFR4_ENST00000292408.4_Silent_p.P443P|FGFR4_ENST00000292410.3_Silent_p.P403P|FGFR4_ENST00000502906.1_Silent_p.P443P			P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	40					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCAGCGGCCCCGCCTTGCTCG	0.642000										TSP Lung(9;0.080)			26	117					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37020601	37020601	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:37020601C>G	ENST00000282516.8	+	26	5550	c.5051C>G	c.(5050-5052)aCa>aGa	p.T1684R	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1684R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1684					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCGAGACACAACTCTGGAA	0.353000													29	117					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43367874	43367874	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:43367874T>C	ENST00000344686.2	-	0	346							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGCGATGATAGAGATGGCA	0.622000													18	13					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071915	17071915	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:17071915T>C	ENST00000359963.3	-	1	1785	c.1526A>G	c.(1525-1527)gAg>gGg	p.E509G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	509					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAGCACCACCTCAGCCACTGC	0.488000													25	111					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173776424	173776424	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:173776424G>A	ENST00000356198.2	-	4	686	c.401C>T	c.(400-402)cCg>cTg	p.P134L	CENPL_ENST00000345664.6_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	134					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAATGCTTCCGGGTCCCTTTG	0.363000													6	35					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617817	77617817	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:77617817A>C	ENST00000521891.2	+	2	1942	c.1494A>C	c.(1492-1494)aaA>aaC	p.K498N	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K498N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K498N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K498N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	498						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGTAACAAAGATTTCCCTC	0.428000										HNSCC(33;0.089)			7	23					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826205	23826205	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:23826205G>A	ENST00000354639.3	+	19	2748	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	STK31_ENST00000355870.3_Missense_Mutation_p.E785K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E785K|STK31_ENST00000428484.1_Missense_Mutation_p.E762K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	785	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAGAAGCTGAAGGAGACTC	0.423000													22	36					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997421	115997421	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:115997421G>T	ENST00000264363.2	-	2	1450	c.772C>A	c.(772-774)Cag>Aag	p.Q258K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	258	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCAGATCCTGAATCACCGTT	0.408000													26	91					1.64293e-13	1.81387e-13	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151849830	151849830	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:151849830C>T	ENST00000355193.2	-	50	12875	c.12657G>A	c.(12655-12657)cgG>cgA	p.R4219R	KMT2C_ENST00000262189.6_Silent_p.R4162R					lysine (K)-specific methyltransferase 2C																		GCTGCTTCAGCCGGTAAGAGC	0.483000													4	136					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201008964	201008964	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008964G>T	ENST00000362061.3	-	44	5843	c.5617C>A	c.(5617-5619)Ctg>Atg	p.L1873M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1854M|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1873					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGCATCACAGCCTTGGAGGA	0.637000													29	52					9.80776e-20	1.10193e-19	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48545978	48545978	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:48545978G>A	ENST00000435803.1	+	49	13362	c.13338G>A	c.(13336-13338)aaG>aaA	p.K4446K	ABCA13_ENST00000544596.1_Silent_p.K176K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4446				K -> E (in Ref. 1; AAP13576 and 4; AAO59914).	transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTGAACAAGGACAAGATGT	0.458000													22	41					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97144014	97144014	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:97144014T>A	ENST00000371247.2	-	16	1578	c.1389A>T	c.(1387-1389)agA>agT	p.R463S	SORBS1_ENST00000306402.6_Missense_Mutation_p.R294S|SORBS1_ENST00000371246.2_Missense_Mutation_p.R485S|SORBS1_ENST00000361941.3_Missense_Mutation_p.R463S|SORBS1_ENST00000371241.1_Missense_Mutation_p.R253S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Missense_Mutation_p.R262S|SORBS1_ENST00000607232.1_Missense_Mutation_p.R252S|SORBS1_ENST00000277982.5_Missense_Mutation_p.R485S|SORBS1_ENST00000371227.4_Missense_Mutation_p.R417S|SORBS1_ENST00000371249.2_Missense_Mutation_p.R385S|SORBS1_ENST00000371245.3_Missense_Mutation_p.R348S|SORBS1_ENST00000393949.1_Missense_Mutation_p.R433S|SORBS1_ENST00000353505.5_Missense_Mutation_p.R348S|SORBS1_ENST00000347291.4_Missense_Mutation_p.R331S|SORBS1_ENST00000354106.3_Missense_Mutation_p.R433S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	463	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAAATGAGTATCTGGGAGAGT	0.423000													16	77					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751979	41751979	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:41751979G>A	ENST00000352645.4	+	20	2553	c.2296G>A	c.(2296-2298)Ggc>Agc	p.G766S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G766S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	782					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCACAGAACGGCCGCAAGTG	0.617000													19	14					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169504378	169504378	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:169504378C>G	ENST00000349841.5	+	8	2408	c.1745C>G	c.(1744-1746)aCt>aGt	p.T582S	MYNN_ENST00000356716.4_Missense_Mutation_p.T582S|MYNN_ENST00000544106.1_Missense_Mutation_p.T553S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	582						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTCACGGATACTCAGTCTCCT	0.398000													12	233					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869524	50869524	+	Silent	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:50869524C>A	ENST00000398473.2	+	16	2164	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	LARP4_ENST00000347328.5_Silent_p.I613I|LARP4_ENST00000429001.3_Silent_p.I690I|LARP4_ENST00000518444.1_Silent_p.I683I|LARP4_ENST00000293618.8_Silent_p.I613I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	684							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GCAATATAATCCCCAGGGGAG	0.488000													61	92					2.14255e-21	2.43588e-21	1	1	0
GREB1	9687	broad.mit.edu	37	2	11770105	11770105	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:11770105T>A	ENST00000381486.2	+	26	4781	c.4481T>A	c.(4480-4482)tTc>tAc	p.F1494Y	GREB1_ENST00000234142.5_Missense_Mutation_p.F1494Y|GREB1_ENST00000396123.1_Missense_Mutation_p.F492Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1494						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCTTTGCCTTCTCTTACTCC	0.592000													16	57					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	178					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71730624	71730624	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:71730624T>C	ENST00000393695.3	-	9	831	c.500A>G	c.(499-501)gAg>gGg	p.E167G	NUMA1_ENST00000358965.6_Missense_Mutation_p.E167G|NUMA1_ENST00000351960.6_Missense_Mutation_p.E167G|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	167					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGGAGAGCTCTTCAGGGAA	0.483000			T	RARA	APL								56	93					0	0	1	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167141	10167141	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:10167141C>T	ENST00000396502.1	+	3	338	c.210C>T	c.(208-210)gaC>gaT	p.D70D	CLEC12B_ENST00000338896.5_Silent_p.D70D	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	70						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TATCTAATGACATTAACTCAG	0.373000													16	27					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6713237	6713237	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:6713237C>G	ENST00000245907.6	-	9	1058	c.966G>C	c.(964-966)aaG>aaC	p.K322N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	322					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTACAAAGACTTCCCCACCA	0.617000													19	35					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634636	79634636	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:79634636C>T	ENST00000376708.1	+	1	66	c.66C>T	c.(64-66)acC>acT	p.T22T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	22					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						TCTCGCTGACCGCCATGGCAA	0.642000													8	23					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99507277	99507277	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:99507277G>T	ENST00000355947.2	-	3	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	TRIM4_ENST00000354241.5_Missense_Mutation_p.L134I|TRIM4_ENST00000349062.2_Missense_Mutation_p.L134I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	160					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GACTTAAGAAGTTTCTCCTGC	0.378000													9	23					0.000274275	0.000283171	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859698	31859698	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:31859698C>T	ENST00000397525.1	-	5	777	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R185Q|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R185Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	185	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCCCTCTCTCGGTCTCTGTC	0.478000													15	64					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71691080	71691080	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:71691080T>A	ENST00000254799.6	-	8	1443	c.1326A>T	c.(1324-1326)gaA>gaT	p.E442D	GRSF1_ENST00000502323.1_Missense_Mutation_p.E280D|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.E280D|GRSF1_ENST00000545193.1_Missense_Mutation_p.E324D	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	442	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCACATCAGCTTCTCCAGTGG	0.483000													7	31					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531516	89531516	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:89531516C>A	ENST00000329758.1	-	8	1469	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	TRIM49_ENST00000532501.2_Missense_Mutation_p.G304W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	381	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTAACACACCCAAGAAGAAAG	0.438000													21	140					0.000132079	0.000137104	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810701	106810701	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:106810701G>A	ENST00000526355.1	-	4	1159	c.691C>T	c.(691-693)Cct>Tct	p.P231S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P231S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P231S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	231					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTACCTTCAGGGAGCTCTTTG	0.458000													37	86					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958063	16958063	+	RNA	SNP	C	C	T	rs2779441	by1000genomes	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:16958063C>T	ENST00000412962.1	-	0	74																											AGCCCCTCTCCATCCTCTGTC	0.652000													4	24					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	191					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92920379	92920379	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:92920379G>A	ENST00000532405.1	+	11	1242	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SLC24A4_ENST00000351924.5_Missense_Mutation_p.R303Q|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R320Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R322Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R275Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	339						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCAGGACCCGACTACGGATG	0.512000													16	44					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57951312	57951312	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:57951312C>T	ENST00000564448.1	-	21	2068	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	CNGB1_ENST00000251102.8_Missense_Mutation_p.V676M			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	676					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCCAGCGCACGGGAATCAGC	0.557000													18	144					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427339	38427339	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:38427339G>A	ENST00000322350.5	+	14	2385	c.2039G>A	c.(2038-2040)gGg>gAg	p.G680E	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46E|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGCTCTGGGACCGGTGTC	0.502000													156	215					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55255323	55255323	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:55255323T>A	ENST00000337526.6	-	2	833	c.590A>T	c.(589-591)gAg>gTg	p.E197V	RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000357732.4_Missense_Mutation_p.E197V|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	197					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TATCACAGGCTCAGATGCAGC	0.393000													9	27					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484164	26484164	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:26484164C>G	ENST00000311151.5	+	5	922	c.510C>G	c.(508-510)ttC>ttG	p.F170L	DPYSL2_ENST00000523027.1_Missense_Mutation_p.F134L|DPYSL2_ENST00000521913.1_Missense_Mutation_p.F134L	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	170					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ACATGGCTTTCAAAGATCGCT	0.438000													14	46					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111462468	111462468	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:111462468G>A	ENST00000428084.1	-	27	3152	c.2880C>T	c.(2878-2880)cgC>cgT	p.R960R	DOCK4_ENST00000437633.1_Silent_p.R960R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTCCGGGCGTATCAATA	0.368000													4	27					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873088	51873088	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:51873088G>A	ENST00000371497.5	+	2	3978	c.3091G>A	c.(3091-3093)Gtg>Atg	p.V1031M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1028M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1028M|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTAACAGACGTGGATGAAGA	0.493000													22	88					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11446167	11446167	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11446167C>T	ENST00000222120.3	-	4	688	c.428G>A	c.(427-429)cGt>cAt	p.R143H	RAB3D_ENST00000589655.1_Missense_Mutation_p.R143H	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	143					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGGCACAACACGTTCGTCCTC	0.617000													10	47					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511787	136511787	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:136511787A>G	ENST00000272638.9	+	4	584	c.273A>G	c.(271-273)gaA>gaG	p.E91E	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	91					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCCCTTGGAAGTAATAGCAG	0.393000													31	51					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28260020	28260020	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:28260020G>T	ENST00000354638.3	-	9	1101	c.946C>A	c.(946-948)Ctt>Att	p.L316I	OCA2_ENST00000353809.5_Missense_Mutation_p.L316I|OCA2_ENST00000382996.2_Missense_Mutation_p.L316I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	316					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCATCAAAAGAGGGACAGCC	0.562000									Oculocutaneous Albinism				7	44					0.00198382	0.00203715	1	1	0
PPP3CB	5532	broad.mit.edu	37	10	75234717	75234717	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:75234717T>A	ENST00000360663.5	-	4	594	c.483A>T	c.(481-483)gaA>gaT	p.E161D	PPP3CB_ENST00000545874.1_Missense_Mutation_p.E75D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E161D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E179D			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	161	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGTGTCTGCATTCATGGTTGC	0.353000													15	23					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513156	70513156	+	Silent	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:70513156C>G	ENST00000503640.1	-	1	262	c.207G>C	c.(205-207)ctG>ctC	p.L69L	UGT2A1_ENST00000514019.1_Silent_p.L69L|UGT2A1_ENST00000512704.1_Silent_p.L69L|UGT2A1_ENST00000286604.4_Silent_p.L69L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	69					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTCAAATGTCAGAGATGGGT	0.383000													10	64					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408471	2408471	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:2408471G>A	ENST00000332578.3	+	7	858	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	286	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGTACAACGCGGACACGGCCG	0.672000													34	115					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121642893	121642893	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:121642893C>A	ENST00000275159.6	-	2	202	c.203G>T	c.(202-204)gGt>gTt	p.G68V	TBC1D32_ENST00000398212.2_Missense_Mutation_p.G68V					TBC1 domain family, member 32																		AATCATAGAACCCAAAGTGTT	0.358000													39	73					1.36161e-19	1.52087e-19	1	1	0
CD19	930	broad.mit.edu	37	16	28948832	28948832	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:28948832T>G	ENST00000538922.1	+	10	1422	c.1360T>G	c.(1360-1362)Tcc>Gcc	p.S454A	CD19_ENST00000324662.3_Missense_Mutation_p.S454A|CD19_ENST00000567541.1_Missense_Mutation_p.S454A	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	454					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGATGAAGACTCCTTCTCCAA	0.582000													45	40					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880335	101880335	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:101880335G>C	ENST00000551346.1	+	6	692	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SPIC_ENST00000299272.5_Missense_Mutation_p.R178T			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AATTACGGAAGAAGTGGGGAA	0.453000													18	78					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822330	72822330	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:72822330G>A	ENST00000268489.5	-	10	10517	c.9845C>T	c.(9844-9846)gCg>gTg	p.A3282V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2368V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3282					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGTCTACCGCATACTCCAT	0.612000													4	200					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56680649	56680649	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:56680649T>A	ENST00000431842.2	-	7	1852	c.928A>T	c.(928-930)Agc>Tgc	p.S310C	FAM208A_ENST00000355628.5_Missense_Mutation_p.S706C|FAM208A_ENST00000493960.2_Missense_Mutation_p.S706C	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	706										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ACAGTTTTGCTTCTCATATCT	0.368000													35	31					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73646504	73646504	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:73646504A>C	ENST00000055077.3	-	11	1057	c.997T>G	c.(997-999)Tct>Gct	p.S333A	RFC2_ENST00000352131.3_Missense_Mutation_p.S299A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	333					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGCAAAAGAGAGTTCACTCCT	0.448000													51	148					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21649158	21649158	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:21649158G>A	ENST00000317571.3	+	4	619	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Missense_Mutation_p.R67Q	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	128							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ATGGTTGATCGGCTTCAGAGG	0.428000													12	68					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627222	140627222	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:140627222G>A	ENST00000231173.3	+	1	2076	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		692					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGGTGGTGGCATTGGCCT	0.662000													42	160					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11684932	11684932	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:11684932T>C	ENST00000430365.2	-	1	466	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGAATGCCGATATTGTTGTTC	0.473000													37	64					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91057169	91057169	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:91057169C>T	ENST00000522161.1	+	10	1487	c.804C>T	c.(802-804)ctC>ctT	p.L268L	DECR1_ENST00000220764.2_Silent_p.L277L			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	277					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGAAGAACTCGCAAATCTTG	0.423000													28	91					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104552178	104552178	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:104552178G>A	ENST00000551177.1	+	1	163	c.71G>A	c.(70-72)aGt>aAt	p.S24N	ASPG_ENST00000455920.2_Missense_Mutation_p.S24N|ASPG_ENST00000546892.2_Missense_Mutation_p.S24N	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	24					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGCGGAGTGAGCTCGGC	0.751000													6	18					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354385	17354385	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:17354385T>C	ENST00000511821.1	+	0	244				FTH1P10_ENST00000401830.3_RNA																							GGCAAAGTTCTTCAAAGCCAC	0.493000													18	101					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112727	18112727	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:18112727T>G	ENST00000403915.1	+	3	903	c.452T>G	c.(451-453)cTg>cGg	p.L151R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L151R			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	151					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGTCGTCTCTGTTTGAGAAA	0.498000													17	81					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482937	95482937	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:95482937G>A	ENST00000356884.6	-	4	774	c.707C>T	c.(706-708)tCa>tTa	p.S236L	BICD2_ENST00000375512.3_Missense_Mutation_p.S236L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	236					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCCGCTCTGAGATCTCCTT	0.582000													31	37					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149817	11149817	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:11149817T>C	ENST00000538986.1	-	1	657	c.658A>G	c.(658-660)Agc>Ggc	p.S220G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	220					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATCTTGGTGCTGGGATCTTGA	0.398000													50	180					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124742937	124742937	+	Missense_Mutation	SNP	G	G	A	rs79236806		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:124742937G>A	ENST00000405485.1	+	3	724	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.E220K			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	220							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AAATGCTTGGGAACACAACAG	0.532000													9	29					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596560	97596560	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:97596560G>T	ENST00000182096.4	+	1	742	c.678G>T	c.(676-678)caG>caT	p.Q226H		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTACCTTCCAGTTGCCAGATC	0.473000													10	57					1.76689e-08	1.91748e-08	1	1	0
VCP	7415	broad.mit.edu	37	9	35059572	35059572	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:35059572T>A	ENST00000358901.6	-	14	2817	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	641					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAGATGAGCTGATCAAGACG	0.517000													34	35					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50659554	50659568	+	In_Frame_Del	DEL	ATCATCACCTCACGA	ATCATCACCTCACGA	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:50659554_50659568delATCATCACCTCACGA	ENST00000371824.1	+	4	729_743	c.472_486delATCATCACCTCACGA	c.(472-486)del	p.IITSR158del	ELAVL4_ENST00000371821.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000371819.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000448907.2_In_Frame_Del_p.IITSR161del|ELAVL4_ENST00000371823.4_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000357083.4_In_Frame_Del_p.IITSR175del|ELAVL4_ENST00000371827.1_In_Frame_Del_p.IITSR158del			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	158	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATACGGCCGTATCATCACCTCACGAATCCTGGTTG	0.451													10	117	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													10	54	---	---	---	---					
CENPC	1060	broad.mit.edu	37	4	68384935	68384936	+	Splice_Site	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:68384935_68384936insT	ENST00000273853.6	-	6	866_867	c.617_splice	c.e6+1	p.V206_splice		NM_001812.2	NP_001803.2			centromere protein C																		AAAATGTTACCTTTTTTTGGTT	0.262													12	51	---	---	---	---					
CTD-2012J19.3	0	broad.mit.edu	37	5	1597954	1597955	+	RNA	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:1597954_1597955insT	ENST00000605200.1	+	0	622																											ttttctttttctttttttttga	0.465													2	4	---	---	---	---					
NRF1	4899	broad.mit.edu	37	7	129350403	129350404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:129350403_129350404insT	ENST00000393232.1	+	7	1072_1073	c.955_956insT	c.(955-957)tatfs	p.Y319fs	NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393231.3_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000223190.4_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000539636.1_Frame_Shift_Ins_p.Y158fs|NRF1_ENST00000393230.2_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000311967.2_Frame_Shift_Ins_p.Y319fs	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	319	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CACTGTCTCACTTATCCAGGTG	0.490													24	39	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
SCARF2	91179	broad.mit.edu	37	22	20780088	20780088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:20780088delC	ENST00000405555.3	-	11	2245	c.2175delG	c.(2173-2175)ggfs	p.G725fs	SCARF2_ENST00000266214.5_Frame_Shift_Del_p.G730fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	725	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCGGGCAGCCCCGGGGGGC	0.781													3	3	---	---	---	---					
CARD10	29775	broad.mit.edu	37	22	37887204	37887204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:37887204delT	ENST00000403299.1	-	21	3308	c.3092delA	c.(3091-3093)ggfs	p.E1031fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.E745fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.E1031fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	1031					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCTCAGGCCTCACTGCTGCT	0.667													2	4	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688832	153688832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:153688832delC	ENST00000369682.3	+	2	484	c.309delC	c.(307-309)gafs	p.D103fs		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	103	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTCATAGACTATGCGGCCC	0.672													24	17	---	---	---	---					
