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
PTPRA	5786	broad.mit.edu	37	20	2944950	2944950	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:2944950G>T	ENST00000216877.6	+	4	427	c.27G>T	c.(25-27)ctG>ctT	p.L9L	PTPRA_ENST00000318266.5_Silent_p.L9L|PTPRA_ENST00000356147.3_Silent_p.L9L|PTPRA_ENST00000425918.2_Silent_p.L20L|PTPRA_ENST00000399903.2_Silent_p.L9L|PTPRA_ENST00000380393.3_Silent_p.L9L|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	9					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCTTGTTCTGCTCGGCAGTG	0.408000													45	174					9.84934e-19	1.40809e-18	1	1	0
HOXD3	3232	broad.mit.edu	37	2	177034167	177034167	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:177034167G>T	ENST00000468418.3	+	3	2415	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	HOXD3_ENST00000410016.1_Missense_Mutation_p.G109C|HOXD3_ENST00000249440.3_Missense_Mutation_p.G109C			P31249	HXD3_HUMAN	homeobox D3	109					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCAGCCTCCTGGTCTGAACTC	0.642000													20	43					4.63292e-17	6.47938e-17	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34803170	34803170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:34803170G>A	ENST00000192788.5	+	7	940	c.769G>A	c.(769-771)Gca>Aca	p.A257T	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A257T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	257										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GATGAAGTATGCAGAGTCACT	0.493000													27	75					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48447542	48447542	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:48447542T>G	ENST00000321341.5	+	10	1313	c.1041T>G	c.(1039-1041)taT>taG	p.Y347*	ME2_ENST00000382927.3_Nonsense_Mutation_p.Y347*	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	347					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTGACAAGTATGGTTTATTAG	0.299000													12	44					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088738	86088738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:86088738G>T	ENST00000330753.4	+	2	1647	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	FLRT2_ENST00000554746.1_Missense_Mutation_p.G294W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTGACTCAAGGGGTTTTTGA	0.453000													61	248					3.76628e-20	5.4551e-20	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	114121088	114121088	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:114121088C>A	ENST00000335953.4	+	7	2213	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.S611S|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	611					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACCAGCGCTCCCGGGACTACT	0.622000													28	96					5.45727e-16	7.44348e-16	1	1	0
LOR	4014	broad.mit.edu	37	1	153233515	153233515	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697000													3	31					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220409616	220409616	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:220409616G>A	ENST00000344458.2	+	3	751		c.e3+1		TMEM198_ENST00000373883.3_Splice_Site			Q66K66	TM198_HUMAN	transmembrane protein 198							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTTCTTCGGTGAGATCCCC	0.562000													8	57					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374156	86374156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:86374156T>A	ENST00000604798.1	-	8	1552	c.348A>T	c.(346-348)ttA>ttT	p.L116F	MGAT4C_ENST00000393205.2_Missense_Mutation_p.L145F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	116					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGTCTCAAGTAAATAGTTTC	0.358000													22	64					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930385	122930385	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:122930385T>C	ENST00000534624.1	-	5	1192	c.916A>G	c.(916-918)Aat>Gat	p.N306D	HSPA8_ENST00000227378.3_Missense_Mutation_p.N306D|HSPA8_ENST00000453788.2_Missense_Mutation_p.N306D|HSPA8_ENST00000534319.1_Missense_Mutation_p.N70D|HSPA8_ENST00000533540.1_Missense_Mutation_p.N160D|HSPA8_ENST00000532636.1_Missense_Mutation_p.N306D|HSPA8_ENST00000526110.1_Missense_Mutation_p.N287D|HSPA8_ENST00000526862.1_5'UTR	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	306	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTCAGCATTCAGTTCTTCA	0.493000													15	63					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158829530	158829530	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:158829530G>T	ENST00000262178.2	-	7	846	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	VIPR2_ENST00000402066.1_Missense_Mutation_p.L362M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L205M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	221					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCCTCCACCAGCAGCCAGAAG	0.597000													14	57					4.36969e-10	5.39744e-10	1	1	0
TNN	63923	broad.mit.edu	37	1	175048699	175048699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:175048699C>A	ENST00000239462.4	+	3	753	c.640C>A	c.(640-642)Cgc>Agc	p.R214S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	214	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGAGTGCGTGCGCGGCGTGTG	0.687000													7	15					0.00198382	0.00206403	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102483440	102483440	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:102483440G>T	ENST00000369138.1	+	14	2800	c.2311_splice	c.e14+1	p.M770_splice	GRIK2_ENST00000369134.4_Splice_Site_p.M721_splice|GRIK2_ENST00000318991.6_Splice_Site_p.M770_splice|GRIK2_ENST00000421544.1_Splice_Site_p.M770_splice|GRIK2_ENST00000369137.3_Splice_Site_p.M694_splice|GRIK2_ENST00000413795.1_Splice_Site_p.M770_splice	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	770					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCACTCCCATGGGTAGGTTAT	0.438000													94	85					2.06477e-34	3.1753e-34	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103471417	103471417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:103471417G>T	ENST00000358392.2	-	18	2175	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.L492M|COL11A1_ENST00000353414.4_Missense_Mutation_p.L569M|COL11A1_ENST00000370096.3_Missense_Mutation_p.L608M	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	608	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCTGGCAGACCCGGAAGT	0.368000													28	144					5.77227e-19	8.26752e-19	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158650415	158650415	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:158650415C>A	ENST00000368148.3	-	5	816	c.636G>T	c.(634-636)ggG>ggT	p.G212G	SPTA1_ENST00000368147.3_Silent_p.G212G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAACTCTCCCTTCTTTAG	0.458000													48	130					4.01344e-20	5.8022e-20	1	1	0
MRPL46	26589	broad.mit.edu	37	15	89002885	89002885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:89002885T>C	ENST00000312475.4	-	4	840	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	267						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCAGGTATTTTGGTTTCAAA	0.502000													24	81					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46800095	46800095	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:46800095T>C	ENST00000529230.1	-	21	2534	c.2488A>G	c.(2488-2490)Agt>Ggt	p.S830G	CKAP5_ENST00000415402.1_Missense_Mutation_p.S830G|CKAP5_ENST00000354558.3_Missense_Mutation_p.S830G|CKAP5_ENST00000312055.5_Missense_Mutation_p.S830G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	830					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTGTACCACTTGTGCTATGC	0.443000													46	128					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357678	121357678	+	Silent	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:121357678T>G	ENST00000297848.3	+	45	5223	c.4953T>G	c.(4951-4953)acT>acG	p.T1651T	COL14A1_ENST00000309791.4_Silent_p.T1651T|COL14A1_ENST00000247781.3_Silent_p.T1556T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1651					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCGGACTGTCCAAGGGC	0.602000													28	117					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253215	124253215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124253215C>T	ENST00000375013.2	-	1	43	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTCAGTCACTAAGGAGTTG	0.363000													26	113					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107234	249107234	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:249107234C>G	ENST00000366472.5	-	6	1894	c.665G>C	c.(664-666)aGc>aCc	p.S222T	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S190T|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	222								p.S222N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTAGGGGCGGCTCTTGCCGAT	0.652000													18	73					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76239436	76239436	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:76239436A>G	ENST00000529032.1	+	13	2120	c.2120A>G	c.(2119-2121)cAg>cGg	p.Q707R	C11orf30_ENST00000524490.1_Missense_Mutation_p.Q623R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q721R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q708R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	707					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCATCTATTCAGGAAGGAAAA	0.393000													35	112					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177071305	177071305	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:177071305G>T	ENST00000393643.2	+	15	2411	c.2159G>T	c.(2158-2160)tGg>tTg	p.W720L	WDR17_ENST00000280190.4_Missense_Mutation_p.W744L|WDR17_ENST00000508596.1_Missense_Mutation_p.W720L|WDR17_ENST00000507824.2_Missense_Mutation_p.W727L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	744										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAACTAAGATGGTTCTCAGAA	0.323000													12	95					3.07112e-06	3.47131e-06	1	1	0
TTC16	158248	broad.mit.edu	37	9	130493459	130493459	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:130493459C>A	ENST00000373289.3	+	14	2477	c.2397C>A	c.(2395-2397)ctC>ctA	p.L799L	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	799							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGGGACTGCTCCGAAGTTCCA	0.607000													7	45					0.0293803	0.0297659	1	1	0
TRAFD1	10906	broad.mit.edu	37	12	112578644	112578644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:112578644C>T	ENST00000257604.5	+	5	876	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	TRAFD1_ENST00000412615.2_Missense_Mutation_p.L87F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	87					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CCCTTTGCGGCTTGCTGTCTG	0.458000													29	101					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69080142	69080142	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:69080142G>C	ENST00000465139.2	-	2	314	c.171C>G	c.(169-171)atC>atG	p.I57M	ANP32A_ENST00000560303.1_Missense_Mutation_p.I57M|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	57					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTAAGTTTGCGATTGAGGTGA	0.458000													35	114					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162891728	162891728	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:162891728G>A	ENST00000416990.2	+	3	297		c.e3-1		HMMR_ENST00000393915.4_Splice_Site|HMMR_ENST00000353866.3_Splice_Site|HMMR_ENST00000358715.3_Splice_Site|HMMR_ENST00000432118.2_Intron			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)							cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TTTTTCCGCAGAATCTAAACA	0.333000													21	59					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33163691	33163691	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:33163691C>T	ENST00000374680.3	-	6	1327	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	RXRB_ENST00000544186.1_Silent_p.L182L|RXRB_ENST00000374685.4_Silent_p.L372L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	372	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACCTGCCCGCAGCAATATGA	0.517000													35	27					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:21250883G>T	ENST00000298925.5	+	15	1669	c.1516G>T	c.(1516-1518)Gat>Tat	p.D506Y	NELL1_ENST00000357134.5_Missense_Mutation_p.D478Y|NELL1_ENST00000532434.1_Missense_Mutation_p.D478Y|NELL1_ENST00000325319.5_Missense_Mutation_p.D421Y			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	478	EGF-like 3.				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						AACAGAACACGATGAATGTGG	0.463000													11	54					0.000673444	0.00070447	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79089016	79089016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:79089016C>A	ENST00000388820.4	-	4	945	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607000													35	119					1.45844e-13	1.92793e-13	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													8	35					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38281095	38281095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:38281095G>A	ENST00000373036.4	-	11	2115	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	659						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGGCTCTGGAGGGGGTGGG	0.622000													14	48					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79828564	79828564	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:79828564G>T	ENST00000351004.3	+	4	700	c.327G>T	c.(325-327)gtG>gtT	p.V109V	GNAI1_ENST00000457358.2_Silent_p.V57V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	109					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AACTCTTTGTGCTAGCTGGAG	0.398000													26	84					0.000117367	0.000126901	1	1	0
ACADL	33	broad.mit.edu	37	2	211081170	211081170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:211081170G>A	ENST00000233710.3	-	4	664	c.437C>T	c.(436-438)aCa>aTa	p.T146I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	146					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GCCATGGTTTGTAATATAGGA	0.383000													33	93					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420988	420988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:420988C>A	ENST00000332826.6	-	17	1531	c.1447G>T	c.(1447-1449)Ggc>Tgc	p.G483C		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	483						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGCTTCAGGCCCATGATGATG	0.701000													14	44					6.53275e-17	9.087e-17	1	1	0
C10orf10	11067	broad.mit.edu	37	10	45473430	45473430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:45473430C>A	ENST00000298295.3	-	2	266	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	17						mitochondrion				lung(1)	1						TCCGTGGTCTCCCGAATTGTG	0.612000													19	101					1.15919e-05	1.29133e-05	1	1	0
DDX56	54606	broad.mit.edu	37	7	44611157	44611157	+	Missense_Mutation	SNP	C	C	T	rs41279636	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:44611157C>T	ENST00000258772.5	-	6	930	c.824G>A	c.(823-825)cGc>cAc	p.R275H	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R275H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	275	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAACAGGCGTAGCCGGTA	0.512000													28	88					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:19553564G>T	ENST00000409832.3	+	1	200	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607000													55	539					1.53716e-24	2.29533e-24	1	1	0
NRG1	3084	broad.mit.edu	37	8	32505844	32505844	+	Missense_Mutation	SNP	C	C	A	rs76552623		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:32505844C>A	ENST00000520502.2	+	1	608	c.608C>A	c.(607-609)cCc>cAc	p.P203H	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	464	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGAGAACGCCCAAGTCAGCA	0.488000													18	49					5.03518e-11	6.38286e-11	1	1	0
LHFPL2	10184	broad.mit.edu	37	5	77805896	77805896	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:77805896C>G	ENST00000380345.2	-	4	816	c.141G>C	c.(139-141)gcG>gcC	p.A47A	LHFPL2_ENST00000515007.2_Silent_p.A47A	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	47						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		cgcccgggcccgccggctcca	0.687000													5	21					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156918648	156918648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:156918648G>C	ENST00000257527.4	-	18	2148	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	ADAM19_ENST00000430702.2_Missense_Mutation_p.I423M|ADAM19_ENST00000517905.1_Missense_Mutation_p.I690M|ADAM19_ENST00000394020.1_Missense_Mutation_p.I692M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	690					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCACTGTCGATACTGCCCC	0.637000													3	18					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73457962	73457962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:73457962G>T	ENST00000377110.2	-	5	1001	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TRPM3_ENST00000396285.1_Missense_Mutation_p.P100H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P255H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P100H|TRPM3_ENST00000377097.3_Missense_Mutation_p.P100H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P255H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P100H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P100H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P100H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P100H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377101.1_Missense_Mutation_p.P100H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P100H|TRPM3_ENST00000361823.5_Missense_Mutation_p.P100H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P253H|TRPM3_ENST00000396283.1_Missense_Mutation_p.P100H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	253						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AATTCCCCAGGGGGCAATACC	0.458000													27	56					4.72057e-08	5.5723e-08	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161044038	161044038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:161044038G>A	ENST00000368012.3	-	6	1428	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.R110W	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	376					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.R376R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTTGCGCCGATGGTATCGG	0.577000													12	74					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097647	85097647	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:85097647T>C	ENST00000335459.5	-	2	576	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TRABD2A_ENST00000409133.1_Missense_Mutation_p.K124R|TRABD2A_ENST00000409520.2_Missense_Mutation_p.K124R	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CAGGTGGCGCTTGAGGCGGCA	0.577000													20	50					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143518	61143518	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:61143518G>A	ENST00000475015.1	-	0	820				C20orf166-AS1_ENST00000412495.1_RNA																							GGAGGAGGAGGATGGCCCTGC	0.637000													10	49					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477136	180477136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:180477136G>A	ENST00000327705.9	+	4	734	c.503G>A	c.(502-504)gGc>gAc	p.G168D	BTNL9_ENST00000515271.1_Missense_Mutation_p.G99D|BTNL9_ENST00000376841.2_Missense_Mutation_p.G168D|BTNL9_ENST00000376842.3_Missense_Mutation_p.G168D	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	168						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGAAGGAGGCATTCAGCTG	0.582000													31	117					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65390434	65390434	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:65390434T>C	ENST00000519389.1	+	2	363	c.184T>C	c.(184-186)Tgg>Cgg	p.W62R	HEPH_ENST00000419594.1_Missense_Mutation_p.W11R|HEPH_ENST00000441993.2_Missense_Mutation_p.W11R|HEPH_ENST00000374727.3_Missense_Mutation_p.W11R|HEPH_ENST00000343002.2_Missense_Mutation_p.W8R|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	8	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCACCTCCTCTGGGCTCTGCT	0.527000													12	13					0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6913049	6913049	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:6913049G>A	ENST00000330590.2	-	2	225	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	63					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATAGCAGGTGGCTCTTGCCT	0.557000													7	16					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39507278	39507278	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:39507278T>A	ENST00000316423.6	-	8	1339	c.997A>T	c.(997-999)Att>Ttt	p.I333F	UGDH_ENST00000507089.1_Missense_Mutation_p.I236F|UGDH_ENST00000506179.1_Missense_Mutation_p.I333F|UGDH_ENST00000501493.2_Missense_Mutation_p.I266F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	333					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.I333V(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AATCCCAAAATAGCTATCTTC	0.348000													35	141					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512620	71512620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:71512620C>A	ENST00000370924.4	-	1	871	c.641G>T	c.(640-642)cGa>cTa	p.R214L	PTGER3_ENST00000351052.5_Missense_Mutation_p.R214L|PTGER3_ENST00000370932.2_Missense_Mutation_p.R214L|PTGER3_ENST00000354608.5_Missense_Mutation_p.R214L|PTGER3_ENST00000414819.1_Missense_Mutation_p.R214L|PTGER3_ENST00000306666.5_Missense_Mutation_p.R214L|PTGER3_ENST00000460330.1_Missense_Mutation_p.R214L|PTGER3_ENST00000356595.4_Missense_Mutation_p.R214L|PTGER3_ENST00000370931.3_Missense_Mutation_p.R214L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	214					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTGCCCCCTCGCCCGGTGCT	0.652000													21	85					2.89027e-11	3.66988e-11	1	1	0
ZNF287	57336	broad.mit.edu	37	17	16455957	16455957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:16455957C>G	ENST00000395824.1	-	6	2116	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	ZNF287_ENST00000395825.3_Missense_Mutation_p.R500T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	493					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTATGAACTCTCTGATGATT	0.373000													48	160					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494070	220494070	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:220494070A>T	ENST00000358055.3	+	4	934	c.422A>T	c.(421-423)gAg>gTg	p.E141V	SLC4A3_ENST00000373760.2_Missense_Mutation_p.E141V|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E141V|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E141V|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E141V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	141	Poly-Glu.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		gaggaggaagaggaggaagag	0.607000													6	22					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104028376	104028376	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:104028376C>T	ENST00000337322.4	-	0	259				BAG5_ENST00000299204.4_Intron|BAG5_ENST00000445922.2_Intron	NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CTGGAGGCCACGGAGGGAAGG	0.572000													13	42					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925127	70925127	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:70925127T>C	ENST00000603540.1	+	2	1169	c.911T>C	c.(910-912)aTa>aCa	p.I304T	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.I304T	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	304	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTCACTTATAAGTATACTT	0.393000													64	195					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970575	123970575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:123970575G>T	ENST00000369005.1	+	9	6975	c.6635G>T	c.(6634-6636)gGg>gTg	p.G2212V	TACC2_ENST00000369004.3_Missense_Mutation_p.G290V|TACC2_ENST00000334433.3_Missense_Mutation_p.G2212V|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G2167V|TACC2_ENST00000358010.1_Missense_Mutation_p.G358V|TACC2_ENST00000360561.3_Missense_Mutation_p.G290V|TACC2_ENST00000453444.2_Missense_Mutation_p.G2216V|TACC2_ENST00000515273.1_Missense_Mutation_p.G2216V|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.G290V|TACC2_ENST00000513429.1_Missense_Mutation_p.G358V|TACC2_ENST00000368999.1_Missense_Mutation_p.G290V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2212						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTGCAGAAGGGGTTGTCCCC	0.642000													17	65					1.5739e-10	1.97248e-10	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50573846	50573846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:50573846G>A	ENST00000342183.5	-	1	1046	c.242C>T	c.(241-243)tCc>tTc	p.S81F	NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000331040.5_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTCGCAAGGATGCCGGTGA	0.602000													18	32					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603354	143603354	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143603354T>C	ENST00000517894.1	+	21	3947	c.3053T>C	c.(3052-3054)cTg>cCg	p.L1018P	BAI1_ENST00000323289.5_Missense_Mutation_p.L1018P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1018					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCGCCTTCCTGCACTTCTTC	0.687000													16	14					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894530	123894530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:123894530G>A	ENST00000375024.1	+	1	811	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGATGGAGTTGTGGCCATTTT	0.498000													28	132					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6195444	6195444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:6195444C>A	ENST00000262450.3	-	18	2815	c.2716G>T	c.(2716-2718)Gag>Tag	p.E906*	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	906					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCAAACTCCTCCAGGAAGCCC	0.587000													16	74					1.15088e-07	1.34211e-07	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111431425	111431425	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:111431425G>C	ENST00000265162.5	+	6	1561	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	407					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGTGACCATGGACTGGTGGGA	0.378000													22	101					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925364	4925364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4925364G>T	ENST00000396658.4	+	14	3656	c.2953G>T	c.(2953-2955)Gca>Tca	p.A985S	UBN1_ENST00000545171.1_Missense_Mutation_p.A985S|UBN1_ENST00000590769.1_Missense_Mutation_p.A985S|UBN1_ENST00000262376.6_Missense_Mutation_p.A985S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	985	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGGGAGTGGCAAAGTTGCT	0.542000													66	93					8.52622e-23	1.26097e-22	1	1	0
LCE5A	254910	broad.mit.edu	37	1	152484057	152484057	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152484057G>A	ENST00000334269.2	+	2	223	c.47G>A	c.(46-48)tGt>tAt	p.C16Y		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	16	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAATGTACCCCTAAA	0.542000													33	71					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472756	64472756	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:64472756G>T	ENST00000355086.3	+	9	1707	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D395Y|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D355Y	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	395					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACCATCGAGGACTATGATGT	0.433000													18	71					5.35267e-07	6.15836e-07	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21542699	21542699	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:21542699G>T	ENST00000298694.4	+	3	937	c.810G>T	c.(808-810)acG>acT	p.T270T	ARHGEF40_ENST00000298693.3_Silent_p.T270T			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	270					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGTCCGGACGGTACCCACCC	0.687000													5	12					0.0215528	0.0218643	1	1	0
STARD13	90627	broad.mit.edu	37	13	33703645	33703645	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:33703645T>A	ENST00000336934.5	-	5	1285	c.1169A>T	c.(1168-1170)cAa>cTa	p.Q390L	STARD13_ENST00000255486.4_Missense_Mutation_p.Q382L|STARD13_ENST00000399365.3_Missense_Mutation_p.Q272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAAATTCTCTTGGGAGTGAAA	0.522000													30	58					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11894356	11894356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:11894356G>C	ENST00000322748.3	-	5	1116	c.512C>G	c.(511-513)tCc>tGc	p.S171C	ZNF18_ENST00000580306.1_Missense_Mutation_p.S171C|ZNF18_ENST00000580613.1_Missense_Mutation_p.S120C|ZNF18_ENST00000454073.3_Missense_Mutation_p.S171C	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGCCCTGAGGATGAATTCTC	0.522000													72	338					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17790142	17790142	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:17790142C>A	ENST00000259711.6	-	26	3328		c.e26-1		KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATCATCTCTCTGGTAGGAAA	0.383000													17	24					3.52763e-06	3.97567e-06	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61542307	61542307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:61542307C>T	ENST00000266070.4	-	3	983	c.658G>A	c.(658-660)Gag>Aag	p.E220K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E220K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E220K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E220K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E220K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E220K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E220K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E220K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E220K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	220					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATCGTTCTCGGGCTCCTGC	0.622000													30	101					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858302	65858302	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:65858302G>T	ENST00000395325.3	+	12	1643	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D553Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D483Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	496	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACCCCCTGAGGATGTGGACCT	0.562000													13	39					0.00010058	0.000108903	1	1	0
OOSP2	219990	broad.mit.edu	37	11	59807995	59807995	+	Splice_Site	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:59807995T>C	ENST00000278855.2	+	1	248	c.64_splice	c.e1+1	p.H21_splice	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		21						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGAACCTCCATGGTAAATAAC	0.448000													34	97					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58284929	58284929	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:58284929T>G	ENST00000249750.4	-	7	1539	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K237Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K162Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K229Q|ALDH1A2_ENST00000347587.3_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	258					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AATGCAATCTTGTCTATGCCA	0.458000													20	74					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212555	55212555	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:55212555G>T	ENST00000396834.1	+	17	2341	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	IL31RA_ENST00000359040.5_Missense_Mutation_p.K634N|IL31RA_ENST00000447346.2_Missense_Mutation_p.K634N|IL31RA_ENST00000490985.1_Missense_Mutation_p.K492N|IL31RA_ENST00000354961.4_Missense_Mutation_p.K615N	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	602					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTGACAAGTTGGTGATTG	0.433000													16	82					2.32078e-09	2.83488e-09	1	1	0
DPPA3	359787	broad.mit.edu	37	12	7867803	7867803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:7867803C>A	ENST00000345088.2	+	2	224	c.107C>A	c.(106-108)aCg>aAg	p.T36K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCCTCCGAGACGTTGATAAAG	0.453000													49	146					4.21674e-32	6.44618e-32	1	1	0
PACRG	135138	broad.mit.edu	37	6	163735916	163735916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:163735916T>A	ENST00000337019.3	+	7	1012	c.788T>A	c.(787-789)tTg>tAg	p.L263*	PACRG_ENST00000366889.2_Nonsense_Mutation_p.L224*|PACRG_ENST00000366888.2_Nonsense_Mutation_p.L224*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	263										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATTGGGGACTTGATCCAGGAG	0.507000													14	59					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931195	189931195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:189931195C>A	ENST00000374866.3	-	23	1758	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	495					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCGGGTGGGCCTATCGGACC	0.473000													82	222					9.04243e-43	1.40458e-42	1	1	0
OAS3	4940	broad.mit.edu	37	12	113405829	113405829	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:113405829A>C	ENST00000228928.7	+	14	3133	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	985	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGGGCGGGAAGGACTCCCAG	0.602000													14	60					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127388033	127388033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:127388033G>C	ENST00000342480.6	+	6	1452	c.1413G>C	c.(1411-1413)agG>agC	p.R471S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	471					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACATCCGCAGGAGCCTGGAGG	0.567000													3	23					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702367	225702367	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:225702367T>C	ENST00000366844.2	-	7	1600	c.1149A>G	c.(1147-1149)tcA>tcG	p.S383S	ENAH_ENST00000366843.2_Silent_p.S383S|ENAH_ENST00000284563.6_Silent_p.S630S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	383					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GATTGTCTTCTGACATGGATG	0.498000													20	82					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848242	215848242	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:215848242C>G	ENST00000366943.2	-	63	13397	c.13011G>C	c.(13009-13011)acG>acC	p.T4337T	USH2A_ENST00000307340.3_Silent_p.T4337T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4337	Fibronectin type-III 28.		T -> M (in USH2A).		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)		ATCCTCCACTCGTGCAGGCTT	0.498000										HNSCC(13;0.011)			34	106					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76797071	76797071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:76797071C>A	ENST00000285871.4	+	2	213	c.86C>A	c.(85-87)cCc>cAc	p.P29H	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	29										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCCATAGTGCCCACAATTAAC	0.358000													9	105					0.00400662	0.00415183	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120633726	120633726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120633726C>T	ENST00000427067.2	-	4	494	c.314G>A	c.(313-315)gGa>gAa	p.G105E	ENPP2_ENST00000259486.6_Missense_Mutation_p.G109E|ENPP2_ENST00000075322.6_Missense_Mutation_p.G109E|ENPP2_ENST00000522826.1_Missense_Mutation_p.G109E			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	109	SMB 2.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTGACTTCTCCACATCTGTC	0.458000													24	138					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114392878	114392878	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:114392878C>G	ENST00000536271.1	-	4	1847	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	NXPE1_ENST00000251921.2_Missense_Mutation_p.E344Q|NXPE1_ENST00000424269.1_Missense_Mutation_p.E486Q					neurexophilin and PC-esterase domain family, member 1																		CTCTCTGTCTCTATGTGCATC	0.423000													16	122					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896171	134896171	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:134896171C>G	ENST00000607359.1	+	6	1257	c.1257C>G	c.(1255-1257)ggC>ggG	p.G419G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGGCCTTGGCCTGAGGTGGG	0.617000													8	36					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767620	181767620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181767620C>T	ENST00000526775.1	+	46	6571	c.6406C>T	c.(6406-6408)Caa>Taa	p.Q2136*	CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Q2149*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Q2087*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Q2198*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Q2155*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Q2179*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Q1762*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2198					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGACCTCCCAAGCTCTGGA	0.627000													30	86					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31449514	31449514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:31449514G>T	ENST00000511367.2	-	21	2939	c.2695C>A	c.(2695-2697)Cat>Aat	p.H899N	DROSHA_ENST00000344624.3_Missense_Mutation_p.H899N|DROSHA_ENST00000442743.1_Missense_Mutation_p.H862N|DROSHA_ENST00000513349.1_Missense_Mutation_p.H862N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	899	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGACTTGGATGAGTCATGGCC	0.413000													4	10					0.150653	0.151241	1	1	0
PRMT10	90826	broad.mit.edu	37	4	148575546	148575546	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:148575546C>A	ENST00000322396.6	-	9	1744	c.1502G>T	c.(1501-1503)aGt>aTt	p.S501I	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S388I	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	501						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGCGAGGGCACTACAAAGTTC	0.383000													37	181					6.19805e-25	9.29106e-25	1	1	0
CD36	948	broad.mit.edu	37	7	80303408	80303408	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:80303408T>A	ENST00000435819.1	+	17	2048	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K	CD36_ENST00000538969.1_Missense_Mutation_p.M395K|CD36_ENST00000432207.1_Missense_Mutation_p.M455K|CD36_ENST00000534394.1_Missense_Mutation_p.M379K|CD36_ENST00000447544.2_Missense_Mutation_p.M455K|CD36_ENST00000394788.3_Missense_Mutation_p.M455K|CD36_ENST00000433696.2_Missense_Mutation_p.M416K|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Missense_Mutation_p.M455K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	455					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGTGTGGTGATGTTTGTTGCT	0.323000													11	47					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39306790	39306790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:39306790C>T	ENST00000263408.4	-	9	1440	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	449	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACATCAATCACGGTTCCTCGG	0.383000													26	97					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644293	20644293	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:20644293C>A	ENST00000428453.1	-	0	3270																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCAGCAGTGCCACCACCTCC	0.632000													7	39					9.31168e-06	1.04183e-05	1	1	0
DSCC1	79075	broad.mit.edu	37	8	120865319	120865319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120865319C>T	ENST00000313655.4	-	2	533	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	107					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGAATCTTCCTTCTTCAAC	0.363000													22	93					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935917	151935917	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151935917A>T	ENST00000393902.3	-	3	817	c.250T>A	c.(250-252)Tat>Aat	p.Y84N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.Y84N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	84										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCATAGGATTGGCTC	0.607000													35	31					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557934	210557934	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:210557934C>A	ENST00000360351.4	+	7	1546	c.1040C>A	c.(1039-1041)cCa>cAa	p.P347Q	MAP2_ENST00000447185.1_Missense_Mutation_p.P343Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	347					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTTTACAGCCAGATGACAAA	0.438000													17	74					6.94344e-10	8.54918e-10	1	1	0
SALL4	57167	broad.mit.edu	37	20	50418837	50418837	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:50418837C>T	ENST00000217086.4	-	1	222	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SALL4_ENST00000395997.3_Silent_p.A37A|SALL4_ENST00000371539.3_Silent_p.A37A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	37					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ccgccgcgggcgccgctgggg	0.736000													5	22					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275445	114275445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:114275445T>C	ENST00000357077.4	+	38	5724	c.5671T>C	c.(5671-5673)Tct>Cct	p.S1891P	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858P|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1858	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGGCACTCTCCTGTGTC	0.478000													40	125					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51857496	51857496	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:51857496G>C	ENST00000453097.2	+	11	1564	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G	SLC4A8_ENST00000535225.2_Silent_p.G396G|SLC4A8_ENST00000514353.3_Silent_p.G396G|SLC4A8_ENST00000358657.3_Silent_p.G476G|SLC4A8_ENST00000394856.1_Silent_p.G396G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	449					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCGCACTGGGCGGTAAGTCC	0.488000													11	73					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228118290	228118290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:228118290T>C	ENST00000396578.3	+	13	863	c.701T>C	c.(700-702)tTa>tCa	p.L234S	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	234	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTGAAAGGGTTAACAGGACCC	0.433000													54	191					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210323	100210323	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:100210323G>T	ENST00000317233.4	-	14	2035	c.1800C>A	c.(1798-1800)gcC>gcA	p.A600A	AFF3_ENST00000409579.1_Silent_p.A625A|AFF3_ENST00000409236.1_Silent_p.A600A|AFF3_ENST00000356421.2_Silent_p.A625A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	600					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTGGCAGTTGGCGCCGTCCC	0.756000													3	35					6.4e-05	6.98007e-05	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70980501	70980501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:70980501T>A	ENST00000276594.2	-	4	1077	c.876A>T	c.(874-876)gaA>gaT	p.E292D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	292	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGTCTTCACTTCACTGGCAT	0.483000													39	95					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661771	2661771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:2661771G>A	ENST00000324666.5	+	8	1213	c.862G>A	c.(862-864)Gca>Aca	p.A288T	FAM193A_ENST00000382839.3_Missense_Mutation_p.A288T|FAM193A_ENST00000545951.1_Missense_Mutation_p.A288T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A312T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A288T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	288										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGTGGCTCGGCACCAACTTT	0.493000													15	41					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007248	6007248	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6007248G>T	ENST00000332249.4	-	1	967	c.913C>A	c.(913-915)Ctc>Atc	p.L305I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATTGAGCGCAGGTGGC	0.478000													8	25					5.18039e-06	5.82983e-06	1	1	0
BAG2	9532	broad.mit.edu	37	6	57048775	57048775	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:57048775A>G	ENST00000370693.5	+	3	795	c.423A>G	c.(421-423)gcA>gcG	p.A141A	BAG2_ENST00000545080.1_Silent_p.A108A	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	141	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTACAGTGCATGTTCATCTG	0.403000													34	154					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436008	113436008	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:113436008G>A	ENST00000313341.3	-	2	950	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	208	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGCGGGCGAGGGGCTGTCTC	0.721000													5	22					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507194	219507194	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:219507194T>C	ENST00000411696.2	-	7	4824	c.4045A>G	c.(4045-4047)Aaa>Gaa	p.K1349E	ZNF142_ENST00000449707.1_Missense_Mutation_p.K1349E			P52746	ZN142_HUMAN	zinc finger protein 142	1349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTGCTGTTTACGGGTGTGT	0.657000													16	52					0	0	1	0	0
UFM1	51569	broad.mit.edu	37	13	38924169	38924169	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:38924169G>T	ENST00000239878.4	+	2	75	c.36G>T	c.(34-36)tcG>tcT	p.S12S	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	12				S -> W (in Ref. 7; CAA94181).	protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CGCTGACGTCGGACCCACGGC	0.587000													26	85					1.32003e-05	1.46628e-05	1	1	0
SH2D4A	63898	broad.mit.edu	37	8	19190565	19190565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:19190565G>T	ENST00000265807.3	+	3	692	c.281G>T	c.(280-282)tGt>tTt	p.C94F	SH2D4A_ENST00000518040.1_Missense_Mutation_p.C49F|SH2D4A_ENST00000519207.1_Missense_Mutation_p.C94F	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	94						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GATGTGCTCTGTAATGAAATT	0.473000													25	100					5.35356e-11	6.77532e-11	1	1	0
MFN1	55669	broad.mit.edu	37	3	179082104	179082104	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:179082104A>G	ENST00000471841.1	+	6	682	c.556A>G	c.(556-558)Aca>Gca	p.T186A	MFN1_ENST00000263969.5_Missense_Mutation_p.T186A|MFN1_ENST00000280653.7_Missense_Mutation_p.T186A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	186					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGATGTCACTACAGAGCTGGA	0.323000													12	95					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127526851	127526851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:127526851C>G	ENST00000284690.3	-	10	2477	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E582Q|DHX32_ENST00000368721.1_Missense_Mutation_p.E287Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	663						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGACCCACTCTGGCATCTTC	0.438000													35	138					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678435	88678435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:88678435C>A	ENST00000394480.1	-	10	1422	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	NTRK3_ENST00000542733.2_Missense_Mutation_p.K269N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K367N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K367N|NTRK3_ENST00000540489.2_Missense_Mutation_p.K367N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K367N|NTRK3_ENST00000360948.2_Missense_Mutation_p.K367N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K367N|NTRK3_ENST00000317501.3_Missense_Mutation_p.K367N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	367	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGTGGGCTTGTTGAAGA	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			28	102					1.5548e-18	2.21459e-18	1	1	0
SOS1	6654	broad.mit.edu	37	2	39294839	39294839	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:39294839A>G	ENST00000426016.1	-	3	229	c.143T>C	c.(142-144)gTt>gCt	p.V48A	SOS1_ENST00000395038.2_Missense_Mutation_p.V48A|SOS1_ENST00000428721.2_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.V48A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	48					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAATTCTTCAACATACTGAAG	0.358000									Noonan syndrome				57	230					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601305	25601305	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:25601305C>A	ENST00000215855.2	+	5	526	c.446C>A	c.(445-447)gCg>gAg	p.A149E	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	149	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GACCGTGTGGCGAGTGTCCGT	0.582000													4	33					0.000602214	0.000631671	1	1	0
COL27A1	85301	broad.mit.edu	37	9	116931743	116931743	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:116931743G>T	ENST00000356083.3	+	3	2299	c.1908_splice	c.e3+1	p.P636_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	636	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGGCTTGCCGGTAAGACTGA	0.597000													21	92					1.50039e-11	1.91139e-11	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686073	125686073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:125686073G>C	ENST00000371126.1	-	1	761	c.519C>G	c.(517-519)agC>agG	p.S173R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	173										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGATGGCCAGGCTGTTGGGGT	0.662000													20	27					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709054	71709054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:71709054G>T	ENST00000258104.3	+	3	467	c.190G>T	c.(190-192)Gag>Tag	p.E64*	DYSF_ENST00000409582.3_Nonsense_Mutation_p.E64*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E65*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E65*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E64*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	64	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGGGCTCTGAGCTTCATGT	0.537000													17	39					0.00498961	0.00512913	1	1	0
TTN	7273	broad.mit.edu	37	2	179587599	179587599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179587599G>C	ENST00000589042.1	-	76	22251	c.22027C>G	c.(22027-22029)Caa>Gaa	p.Q7343E	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q6099E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q7026E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7026	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTGGCATTGTAAAGAAACC	0.438000													12	40					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451998	100451998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:100451998T>C	ENST00000354161.3	+	2	304	c.179T>C	c.(178-180)aTt>aCt	p.I60T	SLC12A9_ENST00000415287.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000275729.3_Missense_Mutation_p.I60T|SLC12A9_ENST00000540482.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000428758.1_Missense_Mutation_p.I60T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	60						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTTCTGAGGATTGGTGAGTGG	0.587000													10	32					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110426817	110426817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:110426817C>T	ENST00000360185.4	-	4	520	c.356G>A	c.(355-357)cGc>cAc	p.R119H	GIT2_ENST00000343646.5_Missense_Mutation_p.R119H|GIT2_ENST00000457474.2_Missense_Mutation_p.R119H|GIT2_ENST00000361006.5_Missense_Mutation_p.R119H|GIT2_ENST00000355312.3_Missense_Mutation_p.R119H|GIT2_ENST00000356259.4_Missense_Mutation_p.R119H|GIT2_ENST00000547815.1_Missense_Mutation_p.R119H|GIT2_ENST00000551209.1_Missense_Mutation_p.R119H|GIT2_ENST00000338373.5_Missense_Mutation_p.R119H|GIT2_ENST00000320063.9_Missense_Mutation_p.R119H|GIT2_ENST00000354574.4_Missense_Mutation_p.R119H|GIT2_ENST00000553118.1_Missense_Mutation_p.R119H			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	119	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCAGGGCAAGCGATGGACGAA	0.448000													34	172					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223175932	223175932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:223175932G>C	ENST00000284476.6	+	8	1357	c.1193G>C	c.(1192-1194)tGc>tCc	p.C398S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	398					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGCCAGACTGCTGGGACATG	0.498000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	106					0	0	1	0	0
MS4A13	503497	broad.mit.edu	37	11	60296880	60296880	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:60296880G>T	ENST00000378186.2	+	6	672	c.349G>T	c.(349-351)Ggt>Tgt	p.G117C	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Missense_Mutation_p.G58C|MS4A13_ENST00000378185.2_Missense_Mutation_p.G77C	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	117						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GTTCTTCTACGGTTTGGAATT	0.348000													13	64					0.000151284	0.000163117	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73796924	73796924	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:73796924C>A	ENST00000334126.7	-	21	3875	c.3649G>T	c.(3649-3651)Gct>Tct	p.A1217S	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1217S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1217	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCGTTCAGCCAAAGCCCTG	0.478000													7	32					8.12818e-05	8.82554e-05	1	1	0
MUM1	84939	broad.mit.edu	37	19	1360487	1360487	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:1360487G>T	ENST00000311401.5	+	5	749	c.363G>T	c.(361-363)ccG>ccT	p.P121P	MUM1_ENST00000415183.3_Silent_p.P190P|MUM1_ENST00000591806.1_Silent_p.P190P|MUM1_ENST00000344663.3_Silent_p.P190P			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	189					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGAGGCCCGTTGGTCCTCC	0.527000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0.00316338	0.00328243	1	1	0
PHC1	1911	broad.mit.edu	37	12	9083498	9083498	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:9083498G>T	ENST00000433083.2	+	6	1090	c.945G>T	c.(943-945)gcG>gcT	p.A315A	PHC1_ENST00000543824.1_Silent_p.A360A|PHC1_ENST00000544916.1_Silent_p.A360A|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_Silent_p.A139A			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	360					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCACACCTGCGCCCAGCCAGA	0.468000													5	32					3.59834e-05	3.9459e-05	1	1	0
SSBP2	23635	broad.mit.edu	37	5	80809485	80809485	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:80809485C>G	ENST00000320672.4	-	5	544	c.334G>C	c.(334-336)Ggc>Cgc	p.G112R	SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Missense_Mutation_p.G112R|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000515395.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	112	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACTGGCATGCCATCTCCTGGG	0.448000													29	105					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877368	28877368	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:28877368A>G	ENST00000282397.4	-	30	4204	c.3953T>C	c.(3952-3954)aTc>aCc	p.I1318T	FLT1_ENST00000540678.1_Missense_Mutation_p.I536T|FLT1_ENST00000543394.1_Missense_Mutation_p.I341T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAGCACGCGATTTTCCTTTC	0.562000													28	54					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42717633	42717633	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:42717633G>T	ENST00000398652.3	+	6	550	c.484G>T	c.(484-486)Gca>Tca	p.A162S	FAM3B_ENST00000398647.3_Missense_Mutation_p.A75S|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.A123S|FAM3B_ENST00000398646.3_Missense_Mutation_p.A146S			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	123					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAATGTGACAGCAACACGATG	0.338000													10	38					0.000442599	0.000465513	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33236510	33236510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:33236510C>G	ENST00000401073.2	+	6	1800	c.1730C>G	c.(1729-1731)aCa>aGa	p.T577R	KIAA1522_ENST00000373480.1_Missense_Mutation_p.T518R|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.T529R	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	518	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAACGGACACTTTCGCCC	0.692000													7	39					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32588952	32588952	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:32588952T>G	ENST00000400236.3	-	4	1428	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.K75Q|RFPL2_ENST00000248980.4_Missense_Mutation_p.K104Q|RFPL2_ENST00000400237.1_Missense_Mutation_p.K165Q	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	165							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCAGTTCCTTGATGTGGGAA	0.537000													34	130					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914857	215914857	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:215914857C>T	ENST00000366943.2	-	60	11957	c.11571G>A	c.(11569-11571)agG>agA	p.R3857R	USH2A_ENST00000307340.3_Silent_p.R3857R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3857	Fibronectin type-III 23.				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)		TGACAAACATCCTACTGCTAA	0.388000										HNSCC(13;0.011)			23	144					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197687095	197687095	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:197687095G>T	ENST00000330198.4	+	1	25	c.3G>T	c.(1-3)atG>atT	p.M1I	LMLN_ENST00000420910.2_Start_Codon_SNP_p.M1I|LMLN_ENST00000482695.1_5'UTR	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	1					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGCACTCCATGGTAACGACGC	0.736000													12	53					1.08611e-07	1.27042e-07	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156729888	156729888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:156729888G>T	ENST00000347377.6	+	7	1087	c.656G>T	c.(655-657)aGg>aTg	p.R219M	CYFIP2_ENST00000521420.1_Missense_Mutation_p.R193M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R219M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R219M|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R144M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	219					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACCACAACAGGATCACCCAG	0.572000													3	9					0.004672	0.00480905	1	1	0
BPIFA2	140683	broad.mit.edu	37	20	31763255	31763255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:31763255C>G	ENST00000253362.2	+	5	599	c.453C>G	c.(451-453)gaC>gaG	p.D151E	BPIFA2_ENST00000354932.5_Missense_Mutation_p.D151E			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	151						extracellular region	lipid binding										CCTCCTTGGACCTCCTGACCG	0.527000													48	167					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757439	61757439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:61757439G>C	ENST00000423902.2	+	22	5346	c.4867G>C	c.(4867-4869)Gac>Cac	p.D1623H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1623					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGGTGGACAGACATTCTTTC	0.458000													16	82					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97112264	97112264	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:97112264A>G	ENST00000524981.3	+	16	2121	c.2121A>G	c.(2119-2121)acA>acG	p.T707T				Q6ZTY8	CL063_HUMAN		681										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAATCTTACAAAACTTAAAG	0.303000													30	97					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235208	5235208	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:5235208T>C	ENST00000274181.7	+	13	2070	c.1932T>C	c.(1930-1932)agT>agC	p.S644S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	644	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCGGGACAGTGTTGACTTCC	0.522000													20	72					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930286	121930286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:121930286G>T	ENST00000265922.3	-	8	1823	c.1362C>A	c.(1360-1362)taC>taA	p.Y454*	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		454					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GATACAGCTTGTAGCCCTTGT	0.612000													15	32					1.05317e-09	1.29466e-09	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112903465	112903465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:112903465G>A	ENST00000161863.4	+	23	3376	c.3163G>A	c.(3163-3165)Gtg>Atg	p.V1055M		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1055							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGTTCAGCAGTGACGCCTGT	0.408000													26	85					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797101	127797101	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:127797101C>T	ENST00000556132.1	-	6	2934	c.2070G>A	c.(2068-2070)gcG>gcA	p.A690A	SOGA3_ENST00000368268.2_Silent_p.A690A|SOGA3_ENST00000465909.2_Silent_p.A690A|SOGA3_ENST00000525778.1_Silent_p.A690A|SOGA3_ENST00000481848.2_Silent_p.A690A	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	690						integral to membrane											CGTGGTGCCGCGCGCTGTCGT	0.647000													51	79					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40999783	40999783	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40999783G>A	ENST00000399564.4	-	40	5031	c.4581C>T	c.(4579-4581)ctC>ctT	p.L1527L	MROH2B_ENST00000506092.2_Silent_p.L1082L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACTCACCTGTGAGTTTGACAG	0.483000													14	56					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41990557	41990557	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:41990557T>C	ENST00000372584.1	-	5	6246	c.5232A>G	c.(5230-5232)gtA>gtG	p.V1744V	HIVEP3_ENST00000429157.2_Silent_p.V1744V|HIVEP3_ENST00000372583.1_Silent_p.V1744V|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Silent_p.V1744V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1744					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCACATATACATACTCTT	0.507000													13	60					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861012	147861012	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:147861012C>A	ENST00000513335.1	-	4	313	c.114G>T	c.(112-114)ccG>ccT	p.P38P	TTC29_ENST00000398886.4_Silent_p.P38P|TTC29_ENST00000325106.4_Silent_p.P12P|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	12							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGTAAGCTTCGGGCGTGTCA	0.428000													6	43					8.12818e-05	8.82554e-05	1	1	0
TFE3	7030	broad.mit.edu	37	X	48891649	48891649	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:48891649C>A	ENST00000315869.7	-	6	1262	c.1003_splice	c.e6+1	p.E335_splice	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	335					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E335K(2)|p.?(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TATCACCTACCAGAGATCTCC	0.562000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								14	13					3.27435e-08	3.87699e-08	1	1	0
DRP2	1821	broad.mit.edu	37	X	100492623	100492623	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:100492623C>A	ENST00000395209.3	+	5	824	c.297C>A	c.(295-297)gcC>gcA	p.A99A	DRP2_ENST00000541709.1_Silent_p.A21A|DRP2_ENST00000402866.1_Silent_p.A99A|DRP2_ENST00000538510.1_Silent_p.A99A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	99					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCCTAGAGGCCTTCTCAGACC	0.448000													13	104					5.50884e-06	6.17246e-06	1	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122930782	122930782	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:122930782A>G	ENST00000395412.1	+	11	1855	c.1136A>G	c.(1135-1137)cAt>cGt	p.H379R	CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.H379R|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000510842.2_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	379					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATCCCCACCATTTGAGAGCT	0.458000													15	44					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285991	99285991	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:99285991C>A	ENST00000375241.1	-	10	1414	c.963G>T	c.(961-963)acG>acT	p.T321T	CDC14B_ENST00000463569.1_Silent_p.T321T|CDC14B_ENST00000375236.1_Silent_p.T321T|CDC14B_ENST00000375240.3_Silent_p.T321T|CDC14B_ENST00000375242.3_Silent_p.T284T|CDC14B_ENST00000265659.2_Silent_p.T321T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	321	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGTGCCCGTGCGACCAA	0.498000													20	55					1.01871e-10	1.28295e-10	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72973952	72973952	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:72973952G>T	ENST00000262209.4	-	7	1059	c.852C>A	c.(850-852)gcC>gcA	p.A284A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	284						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATCTCAGTGGCTCCCTGGG	0.408000													32	68					3.1745e-13	4.16788e-13	1	1	0
PLA2G2D	26279	broad.mit.edu	37	1	20440615	20440615	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:20440615C>G	ENST00000375105.3	-	4	488	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	144					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTAGCACCCAGGGGTCTGC	0.597000										Multiple Myeloma(11;0.12)			10	36					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422559	57422559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:57422559G>A	ENST00000543257.1	-	4	684	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	C8B_ENST00000371237.4_Missense_Mutation_p.P92S|C8B_ENST00000535057.1_Missense_Mutation_p.P30S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	92					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P92S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGAGAGGGCTGGAGCAAG	0.507000													55	176					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55583103	55583103	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:55583103G>C	ENST00000361849.3	-	34	4783	c.4389C>G	c.(4387-4389)taC>taG	p.Y1463*	PCDH15_ENST00000320301.6_Nonsense_Mutation_p.Y1461*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Y1438*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Y1458*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Y1421*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Y1392*	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1461					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGAAAATGGTAGAGAAGGA	0.363000										HNSCC(58;0.16)			22	71					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132527956	132527956	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:132527956G>C	ENST00000333577.4	+	34	6532	c.6423G>C	c.(6421-6423)ccG>ccC	p.P2141P	EP400_ENST00000389561.2_Silent_p.P2105P|EP400_ENST00000389562.2_Silent_p.P2104P|EP400_ENST00000330386.6_Silent_p.P2024P|EP400_ENST00000332482.4_Silent_p.P2068P			Q96L91	EP400_HUMAN	E1A binding protein p400	2141					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAACATGCCGTGTGATGAAG	0.473000													10	72					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489268	36489268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489268C>T	ENST00000342292.4	-	10	1923	c.1903G>A	c.(1903-1905)Ggg>Agg	p.G635R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAGGAGCCCCCAGCTTCCAG	0.617000													9	43					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420107	56420107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:56420107C>A	ENST00000407595.2	+	2	1274	c.772C>A	c.(772-774)Cat>Aat	p.H258N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	258	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCCCCGAGCATCCACAGAA	0.662000													7	52					0.0381472	0.0385972	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206566173	206566173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:206566173G>A	ENST00000414007.1	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	205	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAGACCCCACGCTCCCCTGAC	0.537000													7	47					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68271955	68271955	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:68271955T>G	ENST00000347230.4	-	8	1388	c.1250A>C	c.(1249-1251)gAg>gCg	p.E417A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E417A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	417					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TATGCACCACTCCAGGACCTC	0.587000													11	35					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137613070	137613070	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:137613070C>A	ENST00000330387.6	-	2	496	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	CREB3L2_ENST00000456390.1_Missense_Mutation_p.G49C|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000452463.1_Missense_Mutation_p.G49C	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	49					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGAGCTGACCCAAGACGTTC	0.498000			T	FUS	fibromyxoid sarcoma								7	26					0.000157383	0.00016875	1	1	0
CNGA3	1261	broad.mit.edu	37	2	99012724	99012724	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:99012724C>A	ENST00000393504.1	+	8	1508	c.1091C>A	c.(1090-1092)aCc>aAc	p.T364N	CNGA3_ENST00000409937.1_Missense_Mutation_p.T368N|CNGA3_ENST00000436404.2_Missense_Mutation_p.T346N|CNGA3_ENST00000272602.2_Missense_Mutation_p.T364N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	364					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTGACCCTTACCACCATTGGT	0.527000													20	70					1.15919e-05	1.29133e-05	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56313039	56313039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:56313039G>T	ENST00000443188.1	-	7	2780	c.2070C>A	c.(2068-2070)agC>agA	p.S690R	NLRP11_ENST00000360133.3_Missense_Mutation_p.S636R|NLRP11_ENST00000589093.1_Missense_Mutation_p.S690R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S591R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S636R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	690							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGTATGTCAGGCTCCGATTAC	0.448000													23	62					5.26018e-13	6.87116e-13	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18705910	18705910	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:18705910G>T	ENST00000406451.3	+	12	1683	c.1533G>T	c.(1531-1533)ggG>ggT	p.G511G	HDAC9_ENST00000405010.3_Silent_p.G511G|HDAC9_ENST00000432645.2_Silent_p.G511G|HDAC9_ENST00000441542.2_Silent_p.G514G|HDAC9_ENST00000428307.2_Silent_p.G467G|HDAC9_ENST00000524023.1_Silent_p.G434G|HDAC9_ENST00000417496.2_Silent_p.G509G|HDAC9_ENST00000456174.2_Silent_p.G483G|HDAC9_ENST00000401921.1_Silent_p.G470G|HDAC9_ENST00000406072.1_Silent_p.G498G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	511					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCTTCAGGGGGACCAGGCGA	0.537000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	119					1.36615e-20	1.98619e-20	1	1	0
VEZT	55591	broad.mit.edu	37	12	95656712	95656712	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:95656712A>G	ENST00000436874.1	+	4	394	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	VEZT_ENST00000261219.6_Missense_Mutation_p.T49A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	97						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCATTACATACCATCCTGCA	0.408000													35	134					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681879	40681879	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40681879C>A	ENST00000302472.3	+	2	1808	c.784C>A	c.(784-786)Cgc>Agc	p.R262S		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	262					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGCTTCCGCCGCATCGCGGG	0.716000													11	43					0.0692343	0.0699593	1	1	0
ZNF180	7733	broad.mit.edu	37	19	44981658	44981658	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:44981658T>A	ENST00000221327.4	-	5	1321	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	ZNF180_ENST00000592529.1_Missense_Mutation_p.N320I|ZNF180_ENST00000391956.4_Missense_Mutation_p.N322I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCTTCAGAATTATTTCTCAT	0.388000													50	147					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962097	32962097	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:32962097C>G	ENST00000321639.5	+	8	2026	c.1698C>G	c.(1696-1698)acC>acG	p.T566T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	566						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGGCACCACCCCCTTTAAGG	0.582000													3	18					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576070	20576070	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:20576070A>T	ENST00000329697.6	-	2	266	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L33Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	33					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCCACTGCAGGGACACCAG	0.517000													9	50					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48379990	48379990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:48379990A>C	ENST00000264313.6	+	3	1034	c.616A>C	c.(616-618)Agc>Cgc	p.S206R	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.S13R	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	206						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AAATGCCAGTAGCCCATACAG	0.418000													24	98					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105377969	105377969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:105377969C>G	ENST00000264122.4	-	19	3115	c.2794G>C	c.(2794-2796)Gtc>Ctc	p.V932L	CBLB_ENST00000394027.3_Missense_Mutation_p.V910L|CBLB_ENST00000407712.1_Missense_Mutation_p.V147L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	932	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCATCGACATTTTCCAAT	0.517000			Mis S		AML								33	131					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643490	64643490	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:64643490A>T	ENST00000371079.1	+	9	2141	c.1766A>T	c.(1765-1767)cAc>cTc	p.H589L	ROR1_ENST00000545203.1_Missense_Mutation_p.H40L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	589	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGCCTGGACCACGGAGATTTT	0.478000													20	75					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721181	135721181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:135721181G>A	ENST00000264977.3	+	2	1458	c.841G>A	c.(841-843)Gta>Ata	p.V281I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	281					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATATGAATGTAATGACCAG	0.343000													21	99					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773275	140773275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140773275G>A	ENST00000398604.2	+	1	895	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAATACTGGGGAAATATC	0.398000													38	177					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162276742	162276742	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:162276742A>G	ENST00000389554.3	+	5	1481	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	TBR1_ENST00000410035.1_Silent_p.A101A|TBR1_ENST00000489530.1_3'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCTTTTGCAAAAGGATTTC	0.338000													17	96					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870251	4870251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:4870251A>T	ENST00000322101.2	-	1	263	c.188T>A	c.(187-189)cTg>cAg	p.L63Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCGGTGCAGGGCGGGCTG	0.572000													27	113					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435190	179435190	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179435190T>A	ENST00000589042.1	-	326	75893	c.75669A>T	c.(75667-75669)acA>acT	p.T25223T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T16158T|TTN_ENST00000359218.5_Silent_p.T16283T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.T22655T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.T16350T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T23582T|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23582	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAGCTAGTGTGCATTTTT	0.458000													6	38					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5433956	5433956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:5433956G>A	ENST00000345221.3	-	12	3919	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A1092V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1122V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1092V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1126V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1122V|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1122					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AACGGTCACCGCTTCTCTCAT	0.557000													35	77					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023222	134023222	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:134023222C>G	ENST00000534548.2	-	33	4353	c.4289G>C	c.(4288-4290)aGt>aCt	p.S1430T	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1430					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCCGATGTAACTGACCCCTGC	0.532000													51	212					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129837451	129837451	+	Missense_Mutation	SNP	G	G	A	rs140829166		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:129837451G>A	ENST00000421865.2	+	65	9377	c.9328G>A	c.(9328-9330)Gaa>Aaa	p.E3110K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3110	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAGGCCCTGGAACTGAGGGG	0.463000													53	60					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128738	126128738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:126128738G>T	ENST00000299308.3	+	6	1547	c.1539G>T	c.(1537-1539)tgG>tgT	p.W513C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACTGTCTGGGCACCCAGGC	0.532000													12	61					4.3838e-07	5.05119e-07	1	1	0
DAPK1	1612	broad.mit.edu	37	9	90252865	90252865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90252865G>T	ENST00000469640.2	+	4	667	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	DAPK1_ENST00000491893.1_Missense_Mutation_p.G98C|DAPK1_ENST00000358077.5_Missense_Mutation_p.G98C|DAPK1_ENST00000472284.1_Missense_Mutation_p.G98C|DAPK1_ENST00000408954.3_Missense_Mutation_p.G98C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	98	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGCGTTGCAGGTGGCGAGCT	0.408000									Chronic Lymphocytic Leukemia, Familial Clustering of				27	110					2.79863e-10	3.47354e-10	1	1	0
CCAR1	55749	broad.mit.edu	37	10	70549469	70549469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:70549469G>T	ENST00000265872.6	+	24	3309	c.3190G>T	c.(3190-3192)Gaa>Taa	p.E1064*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.E1049*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.E1049*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1064					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTAAACAGATGAAGATGAAAA	0.269000													5	41					0.014758	0.0150306	1	1	0
STEAP4	79689	broad.mit.edu	37	7	87912010	87912010	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:87912010C>A	ENST00000380079.4	-	3	1031	c.930G>T	c.(928-930)gtG>gtT	p.V310V	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Silent_p.V310V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	310	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GAATAGGAATCACAAGTGTGT	0.443000													12	66					2.27111e-07	2.64051e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179642595	179642595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179642595G>T	ENST00000589042.1	-	25	4540	c.4316C>A	c.(4315-4317)cCt>cAt	p.P1439H	TTN_ENST00000460472.2_Missense_Mutation_p.P1393H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1393H|TTN_ENST00000342992.6_Missense_Mutation_p.P1439H|TTN_ENST00000360870.5_Missense_Mutation_p.P1439H|TTN_ENST00000342175.6_Missense_Mutation_p.P1393H|TTN_ENST00000591111.1_Missense_Mutation_p.P1439H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1439	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1439H(3)|p.P1393H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTACGTCCAGGGGACATTCT	0.483000													26	68					6.32553e-13	8.24883e-13	1	1	0
LGR6	59352	broad.mit.edu	37	1	202287897	202287897	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287897C>G	ENST00000367278.3	+	18	2555	c.2466C>G	c.(2464-2466)ctC>ctG	p.L822L	LGR6_ENST00000439764.2_Silent_p.L683L|LGR6_ENST00000255432.7_Silent_p.L770L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	822						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGCCTGCCTCAACCCACTGC	0.667000													70	149					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15228702	15228702	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:15228702C>T	ENST00000263383.3	-	10	1315	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	ILVBL_ENST00000534378.1_Silent_p.E285E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	392						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTGCACAGCCTCCTGGGGCT	0.562000													21	82					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139391	56139391	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:56139391G>C	ENST00000319441.4	+	7	1292	c.1128G>C	c.(1126-1128)ccG>ccC	p.P376P	PCK1_ENST00000543666.1_Silent_p.P59P|PCK1_ENST00000535860.1_Silent_p.P244P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	376					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGATGAGCCGCTAGCTTCAG	0.567000													15	54					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665297	90665297	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:90665297G>T	ENST00000371927.3	+	3	1086	c.128G>T	c.(127-129)aGt>aTt	p.S43I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S43I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S43I			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	43							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATCACCATCAGTGAAGACATC	0.453000													25	99					3.08376e-08	3.65693e-08	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21073917	21073917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:21073917G>T	ENST00000261383.3	-	25	3605	c.3606C>A	c.(3604-3606)tgC>tgA	p.C1202*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.C1202*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1202	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCTTCAAAGCACTTCTTCA	0.433000													32	136					1.88708e-17	2.64878e-17	1	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303039	151303039	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151303039T>A	ENST00000370323.4	-	4	1370	c.1054A>T	c.(1054-1056)Act>Tct	p.T352S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.T352S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	352										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATGGCAGTAGTATCATCT	0.453000													65	75					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30445983	30445983	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:30445983T>A	ENST00000286788.4	-	0	135					NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACGCACAGCCTTCTGGGAAAG	0.647000													6	39					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201718	66201718	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:66201718T>A	ENST00000273854.3	-	16	3384	c.2784A>T	c.(2782-2784)atA>atT	p.I928I	EPHA5_ENST00000432638.2_Silent_p.I765I|EPHA5_ENST00000511294.1_Silent_p.I929I|EPHA5_ENST00000354839.4_Silent_p.I906I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	928	Protein kinase.				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						ACATGTTGACTATTTCATCAA	0.473000										TSP Lung(17;0.13)			24	79					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840116	70840116	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:70840116G>A	ENST00000322773.4	+	18	1485		c.e18+1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGACAAGGTAATCAGAtt	0.408000													11	36					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608777	98608777	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:98608777A>T	ENST00000359863.4	+	70	11208	c.10999A>T	c.(10999-11001)Acg>Tcg	p.T3667S	TRRAP_ENST00000355540.3_Missense_Mutation_p.T3638S|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3656S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3667	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGACTACTGGACGTTCCGGAA	0.552000													34	73					0	0	1	0	0
SOD3	6649	broad.mit.edu	37	4	24801457	24801457	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:24801457A>T	ENST00000382120.3	+	2	519	c.314A>T	c.(313-315)gAg>gTg	p.E105V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	105					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				TTCCCGACCGAGCCGAACAGC	0.731000													4	19					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922337	13922337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13922337C>A	ENST00000265104.4	-	5	643	c.539G>T	c.(538-540)aGc>aTc	p.S180I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	180	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)					CCAGCCATGGCTCGTGGCTCT	0.562000									Kartagener syndrome				14	48					4.36969e-10	5.39744e-10	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683291	50683291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:50683291C>A	ENST00000008391.3	+	2	730	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	168							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGGGCCCAGCCTGGGGCTGGC	0.632000													31	139					2.61193e-14	3.49465e-14	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952086	178952086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:178952086T>A	ENST00000263967.3	+	21	3298	c.3141T>A	c.(3139-3141)caT>caA	p.H1047Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Q(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGATGCACATCATGGTGGCT	0.373000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			60	80					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242169037	242169037	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:242169037G>A	ENST00000391975.1	-	28	4013	c.3786C>T	c.(3784-3786)ctC>ctT	p.L1262L	HDLBP_ENST00000427183.2_Silent_p.L1229L|HDLBP_ENST00000391976.2_Silent_p.L1262L|HDLBP_ENST00000310931.4_Silent_p.L1262L	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1262					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGCCCCAAGGGAGGGTCTTGG	0.552000													5	41					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52986737	52986737	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:52986737C>A	ENST00000293745.2	-	3	727		c.e3-1		KRT72_ENST00000354310.4_Splice_Site|KRT72_ENST00000537672.2_Splice_Site|KRT72_ENST00000398066.3_Splice_Site	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72							keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CACCTCATACCTGCATGGGGC	0.517000													21	51					2.4624e-09	2.99365e-09	1	1	0
TYR	7299	broad.mit.edu	37	11	88924383	88924383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:88924383G>C	ENST00000263321.5	+	2	1335	c.833G>C	c.(832-834)cGa>cCa	p.R278P	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	278					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCTGTAGCCGATTGGAGGAG	0.463000													25	98					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74454651	74454651	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:74454651A>C	ENST00000377634.4	-	27	3356	c.2957T>G	c.(2956-2958)cTg>cGg	p.L986R	SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L986R|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000394019.2_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR			Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	986						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.L986fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTGGAGTCAGCTTCTTCTG	0.413000													8	41					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553164	19553164	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:19553164C>A	ENST00000536433.1	-	1	3513	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	OSR1_ENST00000272223.2_Missense_Mutation_p.G135C			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	135					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCCCCGCGACCGAGCTTGGCC	0.642000													25	100					9.57634e-11	1.208e-10	1	1	0
ALPL	249	broad.mit.edu	37	1	21889728	21889728	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:21889728C>A	ENST00000374840.3	+	5	673	c.423C>A	c.(421-423)acC>acA	p.T141T	ALPL_ENST00000540617.1_Silent_p.T86T|ALPL_ENST00000539907.1_Silent_p.T64T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Silent_p.T141T|ALPL_ENST00000374832.1_Silent_p.T141T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	141					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGTGCAACACCACCCAGGGGA	0.682000													19	57					1.56452e-12	2.02994e-12	1	1	0
WDR90	197335	broad.mit.edu	37	16	703414	703414	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:703414C>T	ENST00000549091.1	+	11	1288	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	WDR90_ENST00000293879.4_Missense_Mutation_p.T399M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	399										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTCGTGGACACGGGGGAGCAG	0.697000													31	54					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158588497	158588497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:158588497C>G	ENST00000424310.2	-	10	1762	c.1403G>C	c.(1402-1404)tGt>tCt	p.C468S	RNF145_ENST00000519865.1_Missense_Mutation_p.C468S|RNF145_ENST00000518802.1_Missense_Mutation_p.C498S|RNF145_ENST00000520638.1_Missense_Mutation_p.C482S|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.C496S|RNF145_ENST00000521606.2_Missense_Mutation_p.C485S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	468						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCACCACACAGAGGGCCAC	0.473000													17	74					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634231	32634231	+	Silent	SNP	A	A	T	rs55679392		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:32634231A>T	ENST00000242310.4	-	1	1436	c.1347T>A	c.(1345-1347)ggT>ggA	p.G449G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	449					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGGCTTGCACCCTGAGGTT	0.473000													81	158					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349347	226349347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:226349347C>G	ENST00000366812.5	-	4	667	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	205	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tgcagacgttctctttcttcc	0.458000													28	36					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124418025	124418025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:124418025G>C	ENST00000409039.3	+	76	13115	c.13090G>C	c.(13090-13092)Gat>Cat	p.D4364H	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4364					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGTTCCAGGATGCAGATGA	0.587000													12	92					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113326250	113326250	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:113326250G>T	ENST00000297405.5	-	49	7825	c.7581C>A	c.(7579-7581)tcC>tcA	p.S2527S	CSMD3_ENST00000352409.3_Silent_p.S2457S|CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000455883.2_Silent_p.S2423S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCACTGAGGGAAATAAGCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	118					2.65835e-16	3.65168e-16	1	1	0
CHD6	84181	broad.mit.edu	37	20	40076562	40076562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:40076562C>A	ENST00000373233.3	-	24	3910	c.3733G>T	c.(3733-3735)Gga>Tga	p.G1245*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.G728*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1245					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTTCTCCCAGTATTTCA	0.373000													25	129					2.12542e-12	2.74844e-12	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156535	55156535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:55156535G>A	ENST00000257290.5	+	22	3267	c.2936G>A	c.(2935-2937)cGc>cAc	p.R979H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R739H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	979					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGTGGCACGCATGCGTGTG	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	94					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96799254	96799254	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:96799254T>C	ENST00000342380.2	-	5	364	c.365A>G	c.(364-366)gAg>gGg	p.E122G		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	122					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CGCAAGAGCCTCCAGGATGAC	0.572000													11	61					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370502	38370502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:38370502G>T	ENST00000322350.5	+	6	996	c.650G>T	c.(649-651)aGg>aTg	p.R217M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R217M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	217	Fibronectin type-III 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)					TTTGCCGTGAGGGCAATGAAT	0.567000													8	50					0.000157383	0.00016875	1	1	0
MSH4	4438	broad.mit.edu	37	1	76363684	76363684	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:76363684T>C	ENST00000263187.3	+	18	2552	c.2448T>C	c.(2446-2448)caT>caC	p.H816H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	816					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGTTCAACATGTAAAGAATA	0.333000								Mismatch excision repair (MMR)					36	112					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64067113	64067113	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:64067113G>C	ENST00000539216.1	+	6	1457	c.1097G>C	c.(1096-1098)aGa>aCa	p.R366T	KCNK4_ENST00000394525.2_Missense_Mutation_p.R366T|KCNK4_ENST00000422670.2_Missense_Mutation_p.R366T|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.E250D			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	366						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCGCGCCGAGAGGTCGCCGC	0.731000													8	31					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256804	240256804	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:240256804G>T	ENST00000319653.9	+	1	1625	c.1395G>T	c.(1393-1395)ccG>ccT	p.P465P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	465					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAGCCGCCCCGGCCAAGAAGC	0.731000													5	52					0.00116845	0.00121897	1	1	0
NDST4	64579	broad.mit.edu	37	4	115858513	115858513	+	Silent	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:115858513A>T	ENST00000264363.2	-	5	2046	c.1368T>A	c.(1366-1368)ccT>ccA	p.P456P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	456	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)		TGTACCGGGCAGGTTTCAGAT	0.453000													17	69					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160120629	160120629	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:160120629G>T	ENST00000357388.3	+	4	935	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	SMC4_ENST00000469762.1_Missense_Mutation_p.V137F|SMC4_ENST00000462787.1_Missense_Mutation_p.V162F|SMC4_ENST00000344722.5_Missense_Mutation_p.V162F|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.V162F|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	162					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACAGTAGAAGTTCATTTTCA	0.289000													22	113					1.55795e-14	2.08808e-14	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84649575	84649575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:84649575C>A	ENST00000284136.6	-	12	1520	c.1477G>T	c.(1477-1479)Gtg>Ttg	p.V493L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	493	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTCCAGCACTACCTCTTCC	0.418000													14	52					3.45872e-05	3.81993e-05	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137179	40137179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:40137179C>A	ENST00000278198.2	-	2	2627	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D222Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	222					regulation of axonogenesis	integral to membrane	protein binding	p.D222Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAGCTCATCTAGTTTTATG	0.468000													27	107					9.86323e-18	1.38949e-17	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48761984	48761984	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:48761984C>T	ENST00000314191.2	-	54	7139	c.7083G>A	c.(7081-7083)gtG>gtA	p.V2361V	PRKDC_ENST00000338368.3_Silent_p.V2361V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2362					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTTCAAGCACACAATAAACT	0.473000								Non-homologous end-joining					34	156					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142740367	142740367	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:142740367T>C	ENST00000473835.2	+	10	912	c.822T>C	c.(820-822)acT>acC	p.T274T	U2SURP_ENST00000493598.2_Silent_p.T273T|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	274	RRM.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAAGCACTACTAATTTATACC	0.328000													7	49					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148386556	148386556	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:148386556C>A	ENST00000515425.1	-	16	3664	c.3563G>T	c.(3562-3564)tGc>tTc	p.C1188F	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Missense_Mutation_p.C50F|SH3TC2_ENST00000512049.1_Missense_Mutation_p.C1181F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1188							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGGTAGCAGTCCTCAGC	0.547000													23	74					8.04996e-18	1.13612e-17	1	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615771	140615771	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140615771G>A	ENST00000526308.1	+	0	1834					NR_001281.1													p.V496L(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGGTGCGCGTGCTGGTGCT	0.701000													22	123					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143566046	143566046	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143566046G>T	ENST00000517894.1	+	13	3123	c.2229G>T	c.(2227-2229)cgG>cgT	p.R743R	BAI1_ENST00000323289.5_Silent_p.R743R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	743					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGTTCCGGCTGGTGGAGG	0.657000													9	15					0.000442599	0.000465513	1	1	0
LGR6	59352	broad.mit.edu	37	1	202287103	202287103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287103C>G	ENST00000367278.3	+	18	1761	c.1672C>G	c.(1672-1674)Ctc>Gtc	p.L558V	LGR6_ENST00000439764.2_Missense_Mutation_p.L419V|LGR6_ENST00000255432.7_Missense_Mutation_p.L506V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	558						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGTGAGTACCTCTTTGAAAG	0.607000													34	70					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195798986	195798986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:195798986C>A	ENST00000360110.4	-	5	641	c.472G>T	c.(472-474)Gga>Tga	p.G158*	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Nonsense_Mutation_p.G77*|TFRC_ENST00000392396.3_Nonsense_Mutation_p.G158*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	158					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TTTTGAGATCCAGCCTCACGA	0.333000			T	BCL6	NHL								32	111					1.80694e-10	2.25722e-10	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47538840	47538840	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47538840G>A	ENST00000273859.3	+	9	1550	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	ATP10D_ENST00000504445.1_Silent_p.E412E	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	427					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACATCGCCGAGGATCTGGGAC	0.403000													11	56					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108459079	108459079	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:108459079A>T	ENST00000263054.6	-	9	1313	c.1306T>A	c.(1306-1308)Tac>Aac	p.Y436N	SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y436N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	436						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAGAGGTTGTACGTGTCATTC	0.512000													23	69					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913348	170913348	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:170913348C>G	ENST00000361618.3	-	3	718	c.411G>C	c.(409-411)acG>acC	p.T137T	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.T34T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	137	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCAAGGTCACCGTGTTGTTCA	0.532000													34	102					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128737	126128737	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:126128737G>T	ENST00000299308.3	+	6	1546	c.1538G>T	c.(1537-1539)tGg>tTg	p.W513L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537000													12	62					4.3838e-07	5.05119e-07	1	1	0
KLF15	28999	broad.mit.edu	37	3	126071727	126071727	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:126071727C>A	ENST00000296233.3	-	2	269	c.39G>T	c.(37-39)tcG>tcT	p.S13S	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	13						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATTTTGGCGACGAGAAGTTCT	0.597000													7	33					3.09899e-07	3.59222e-07	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86873048	86873048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:86873048C>T	ENST00000373119.4	+	4	986	c.841C>T	c.(841-843)Cct>Tct	p.P281S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P281S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	281						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTCCATCCTTCAAACTG	0.428000													20	28					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120850	47120850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:47120850C>G	ENST00000298283.3	-	1	178	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	30					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AGATGCGGATCTTGGCATCAG	0.527000													27	114					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48337193	48337193	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:48337193G>T	ENST00000285737.4	+	11	1865	c.1772G>T	c.(1771-1773)cGt>cTt	p.R591L	LONP2_ENST00000535754.1_Missense_Mutation_p.R547L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	591					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGTTGGACCGTTCTGATGTG	0.542000													52	76					5.13769e-22	7.56926e-22	1	1	0
IL27RA	9466	broad.mit.edu	37	19	14153563	14153563	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:14153563G>T	ENST00000263379.2	+	6	855	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	244					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAACCTCTGTGGGACGCCTGG	0.502000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	47					6.5261e-18	9.22738e-18	1	1	0
ALDH9A1	223	broad.mit.edu	37	1	165667715	165667715	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:165667715A>G	ENST00000354775.4	-	1	385	c.81T>C	c.(79-81)acT>acC	p.T27T	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	3					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CGAAGGTGCCAGTGCTCATGG	0.687000													11	61					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20112403	20112403	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:20112403T>A	ENST00000381569.1	-	2	647	c.290A>T	c.(289-291)gAc>gTc	p.D97V	LZTS1_ENST00000265801.6_Missense_Mutation_p.D97V|LZTS1_ENST00000522290.1_Missense_Mutation_p.D97V			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	97					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGGTCAAAGTCCACCCCAGC	0.592000													15	58					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75490835	75490835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:75490835C>A	ENST00000502798.2	+	3	1114	c.672C>A	c.(670-672)tgC>tgA	p.C224*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.C224*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	224					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTCTGATTTGCATGTCTGTCA	0.483000													69	323					1.55545e-33	2.38729e-33	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101554519	101554519	+	Splice_Site	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:101554519A>C	ENST00000284395.5	+	12	1810		c.e12-1		LRRK1_ENST00000388948.3_Splice_Site			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						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)			TCTCTCTCTCAGGCCCTCATG	0.547000													23	131					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109825	98109825	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:98109825C>G	ENST00000383695.1	+	1	316	c.316C>G	c.(316-318)Ctt>Gtt	p.L106V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTTCTCTGTCTTGCTGAAAC	0.438000													66	364					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139631730	139631730	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139631730G>T	ENST00000303045.6	-	53	4239	c.3793C>A	c.(3793-3795)Cta>Ata	p.L1265I	COL22A1_ENST00000435777.1_Missense_Mutation_p.L1245I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1265	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCCTGGTAGACCTGGCTCT	0.517000										HNSCC(7;0.00092)			61	123					4.09106e-26	6.16856e-26	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77147171	77147171	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:77147171G>C	ENST00000461745.1	+	2	968	c.68G>C	c.(67-69)cGt>cCt	p.R23P	ROBO2_ENST00000332191.8_Missense_Mutation_p.R23P|ROBO2_ENST00000487694.3_Missense_Mutation_p.R39P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	23					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTAGGATCGCGTCTTCGCCAG	0.507000													7	16					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129878	6129878	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6129878A>G	ENST00000316529.3	+	1	965	c.870A>G	c.(868-870)gcA>gcG	p.A290A	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCCCCTGCACTCAACCCCC	0.507000													35	104					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45774876	45774876	+	Silent	SNP	C	C	T	rs151153987		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:45774876C>T	ENST00000300843.4	+	8	993	c.696C>T	c.(694-696)taC>taT	p.Y232Y	MARK4_ENST00000262891.4_Silent_p.Y232Y	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	232	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAAGAAGTACGACGGGCCGG	0.622000													12	85					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51387764	51387764	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:51387764C>A	ENST00000216392.7	-	6	1014	c.682G>T	c.(682-684)Gac>Tac	p.D228Y	PYGL_ENST00000544180.2_Missense_Mutation_p.D194Y|PYGL_ENST00000532462.1_Missense_Mutation_p.D228Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	228					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACGGGGGTGTCATATGGCAGA	0.527000													11	68					7.03913e-09	8.46449e-09	1	1	0
CASP7	840	broad.mit.edu	37	10	115489094	115489094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:115489094G>A	ENST00000369321.2	+	8	1126	c.806G>A	c.(805-807)gGa>gAa	p.G269E	CASP7_ENST00000369318.3_Missense_Mutation_p.G236E|CASP7_ENST00000369331.4_Missense_Mutation_p.E225K|CASP7_ENST00000369315.1_Missense_Mutation_p.G236E|CASP7_ENST00000345633.4_Missense_Mutation_p.G236E|CASP7_ENST00000452490.2_Missense_Mutation_p.G211E	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	236					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGGAGCCCAGGAAGAGGCTCC	0.502000													45	139					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846196	133846196	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:133846196T>C	ENST00000355167.3	+	19	2240	c.1782T>C	c.(1780-1782)acT>acC	p.T594T	EYA4_ENST00000355286.6_Intron|EYA4_ENST00000431403.2_Silent_p.T594T|EYA4_ENST00000525849.1_Silent_p.T571T|EYA4_ENST00000430974.2_Silent_p.T546T|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000452339.2_Silent_p.T540T|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000367895.5_Intron	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	594					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GATTTGGCACTAACATAACTT	0.408000													21	86					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200971388	200971388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:200971388G>A	ENST00000332129.2	-	9	1619	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	KIF21B_ENST00000360529.5_Missense_Mutation_p.R435W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R435W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R435W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	435					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCCGCAGCCGCAGGGCCCCA	0.607000													27	113					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466530	164466530	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:164466530C>T	ENST00000333129.3	-	3	2126	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	604						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGTTCTCATCCGACTGACTG	0.458000													30	99					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78389025	78389025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:78389025G>C	ENST00000518137.1	+	1	59	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	ENDOV_ENST00000520367.1_Missense_Mutation_p.E11Q|ENDOV_ENST00000323854.5_Missense_Mutation_p.E11Q|ENDOV_ENST00000523999.1_Missense_Mutation_p.E11Q	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	11					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						AGGGCCGCCGGAGGAAACGCT	0.716000								Direct reversal of damage					6	40					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39888291	39888291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:39888291C>T	ENST00000594368.1	+	4	515	c.485C>T	c.(484-486)tCa>tTa	p.S162L	MED29_ENST00000599213.2_Silent_p.V185V|MED29_ENST00000315588.5_Silent_p.V206V			Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAACAAGGTCACGGGCAAGA	0.627000											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172930	51172930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:51172930C>T	ENST00000440970.1	-	2	3343	c.2912G>A	c.(2911-2913)gGc>gAc	p.G971D	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G1068D|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1068					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGATTGGGGCCAAGGTTGGA	0.502000													31	27					0	0	1	0	0
FAR2P3	100288897	broad.mit.edu	37	2	131459952	131459952	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:131459952C>A	ENST00000425151.1	+	0	479																											CCAGCAGGCCCCTGCCATTAT	0.473000													3	8					0.004672	0.00480905	1	1	0
PTPN3	5774	broad.mit.edu	37	9	112172685	112172685	+	Nonsense_Mutation	SNP	C	C	A	rs141809051		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:112172685C>A	ENST00000412145.1	-	10	3484	c.931G>T	c.(931-933)Gag>Tag	p.E311*	PTPN3_ENST00000374541.2_Nonsense_Mutation_p.E442*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E266*|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E288*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	442	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGATTGTTCTCGGATAAACTC	0.483000													47	86					7.88023e-25	1.17898e-24	1	1	0
OR10A5	144124	broad.mit.edu	37	11	6867574	6867574	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6867574C>A	ENST00000299454.4	+	1	692	c.661C>A	c.(661-663)Cgc>Agc	p.R221S	OR10A5_ENST00000379831.2_Missense_Mutation_p.R225S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCCTATACTCGCATTGCTGC	0.488000													48	195					2.22293e-35	3.43221e-35	1	1	0
CASP1	834	broad.mit.edu	37	11	104900411	104900411	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:104900411G>T	ENST00000533400.1	-	6	878	c.843C>A	c.(841-843)atC>atA	p.I281I	CASP1_ENST00000446369.1_Silent_p.I188I|CASP1_ENST00000598974.1_Silent_p.I281I|CASP1_ENST00000393136.4_Silent_p.I260I|CASP1_ENST00000525825.1_Silent_p.I260I|CASP1_ENST00000534497.1_Silent_p.I188I|CASP1_ENST00000526568.1_Silent_p.I188I|CASP1_ENST00000436863.3_Silent_p.I281I|CASP1_ENST00000527979.1_Silent_p.I244I|CASP1_ENST00000528974.1_Silent_p.I242I|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Silent_p.I188I|CASP1_ENST00000593315.1_Silent_p.I260I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	281					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGGCCTGGATGATGATCACCT	0.423000													16	64					6.31663e-08	7.42228e-08	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7480740	7480740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7480740C>T	ENST00000293831.8	+	7	719	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EIF4A1_ENST00000582746.1_Missense_Mutation_p.L235F|EIF4A1_ENST00000577269.1_Missense_Mutation_p.L235F|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	235					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CATTCGGATTCTTGTCAAGAA	0.532000													14	79					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47511159	47511159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:47511159C>T	ENST00000285039.7	-	8	1174	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	292	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAAGTGTCTCCTCCCTGTGA	0.527000													17	41					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:79384406C>A	ENST00000393878.1	-	5	728	c.474G>T	c.(472-474)tgG>tgT	p.W158C	REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000409839.3_Missense_Mutation_p.W158C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458000													11	51					0.000978159	0.00102184	1	1	0
DEPDC7	91614	broad.mit.edu	37	11	33049357	33049357	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:33049357A>G	ENST00000311388.3	+	3	939	c.563A>G	c.(562-564)cAa>cGa	p.Q188R	DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q197R	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGTCTCCACAAGGTAAGCTA	0.338000													4	21					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102047708	102047708	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:102047708G>A	ENST00000251127.6	-	3	198	c.117C>T	c.(115-117)caC>caT	p.H39H	NALCN_ENST00000376196.3_Silent_p.H39H|NALCN_ENST00000376200.5_Silent_p.H39H|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	39						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGCAAAGAGTGAACCCACT	0.428000													12	39					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69648676	69648676	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:69648676G>T	ENST00000212015.6	+	3	637	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	195	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTATGATTGGCACAGATCCT	0.348000													39	98					4.92203e-23	7.30732e-23	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140189135	140189135	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140189135C>G	ENST00000530339.1	+	1	2363	c.2363C>G	c.(2362-2364)aCa>aGa	p.T788R	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T788R|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T788R|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGCAGACAACTGAGGAA	0.448000													28	131					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930548	46930548	+	Silent	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:46930548A>C	ENST00000264318.3	-	9	2341	c.1359T>G	c.(1357-1359)tcT>tcG	p.S453S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	453					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAGGAGAAGCAGATGGAAGTG	0.473000													16	99					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81589061	81589061	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:81589061T>C	ENST00000356860.3	-	37	3389	c.3051A>G	c.(3049-3051)cgA>cgG	p.R1017R	CACNA2D1_ENST00000535308.1_Silent_p.R229R|CACNA2D1_ENST00000356253.5_Silent_p.R1029R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1029						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTATGAGCAGTCGTGTGTCAC	0.368000													13	51					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179976992	179976992	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:179976992G>A	ENST00000393356.1	+	5	598	c.174G>A	c.(172-174)ttG>ttA	p.L58L	CNOT6_ENST00000261951.4_Silent_p.L58L|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	58					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTTTGCATTTGAGTGACAATT	0.403000													49	177					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378000	55378000	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:55378000G>A	ENST00000326321.3	+	9	1215	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	KIR3DL1_ENST00000402254.2_Silent_p.Q394Q|KIR3DL2_ENST00000270442.5_Silent_p.Q377Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	394					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAGACCCTCAGGAGGTGACGT	0.498000													73	273					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933779	6933779	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:6933779T>G	ENST00000311268.3	+	2	1502	c.715T>G	c.(715-717)Ttt>Gtt	p.F239V	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	239						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCGGCCAGCTTTTGAGGTACC	0.687000													22	75					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158802	18158802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:18158802G>A	ENST00000396275.2	+	3	414	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCAACGGACGTGAGGAGACT	0.542000													53	203					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980195	120980195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:120980195C>A	ENST00000392793.1	+	4	745	c.474C>A	c.(472-474)agC>agA	p.S158R	TECTA_ENST00000264037.2_Missense_Mutation_p.S158R			O75443	TECTA_HUMAN	tectorin alpha	158	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGAGGCAGCAGCACCACAC	0.428000													12	58					5.50884e-06	6.17246e-06	1	1	0
POLR1C	9533	broad.mit.edu	37	6	43488956	43488956	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:43488956T>A	ENST00000372389.3	+	9	1047	c.959T>A	c.(958-960)gTg>gAg	p.V320E	POLR1C_ENST00000372344.2_Missense_Mutation_p.V270E|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	320					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCACCAGATGTGCTGGTGAGT	0.507000													23	97					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124377897	124377897	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:124377897T>G	ENST00000409039.3	+	52	8784	c.8759T>G	c.(8758-8760)gTg>gGg	p.V2920G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2920	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTACTTCGTGAACAAAAGT	0.542000													27	85					0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34295412	34295412	+	Splice_Site	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:34295412T>A	ENST00000306730.3	-	2	397		c.e2-2		CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ATCTTCAACCTGCAATCATTA	0.363000													10	38					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249312	52249312	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:52249312C>A	ENST00000595042.1	-	3	1077	c.936G>T	c.(934-936)ctG>ctT	p.L312L	FPR1_ENST00000304748.4_Silent_p.L312L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	312					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGGCGTGGATCAGCCTCTCCC	0.562000													28	102					8.24728e-16	1.12291e-15	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139768059	139768059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139768059G>A	ENST00000303045.6	-	19	2362	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P639L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	639	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCCCGCAGGTCCCACGTC	0.557000										HNSCC(7;0.00092)			14	123					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4447568	4447568	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:4447568C>T	ENST00000301281.6	-	6	718	c.594G>A	c.(592-594)aaG>aaA	p.K198K	UBXN6_ENST00000394765.3_Silent_p.K145K|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	198	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGTTCTGCAGCTTGATCTTCC	0.667000													39	54					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145809	15145809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:15145809G>A	ENST00000378197.4	+	3	1010	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RPP38_ENST00000378202.5_Missense_Mutation_p.E166K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	166					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGCTCAGTGAGAGAATCGC	0.502000													15	73					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462215	224462215	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:224462215A>G	ENST00000305409.2	-	2	2018	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	596					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTTGAGGTATTCCAGCACT	0.453000													29	146					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16760850	16760850	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:16760850T>A	ENST00000502640.1	-	2	314	c.166A>T	c.(166-168)Act>Tct	p.T56S	LDB2_ENST00000304523.5_Missense_Mutation_p.T56S|LDB2_ENST00000515064.1_Missense_Mutation_p.T56S|LDB2_ENST00000441778.2_Missense_Mutation_p.T56S			O43679	LDB2_HUMAN	LIM domain binding 2	56							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAAATTCAGTGGCAAAGGCG	0.373000													20	55					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793733	124793733	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124793733C>G	ENST00000298251.4	-	3	1006	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	201	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGGTGAGCACCTTTTGGTCG	0.592000													10	50					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15619008	15619008	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:15619008G>A	ENST00000427411.1	-	2	243	c.27C>T	c.(25-27)ctC>ctT	p.L9L	ACE2_ENST00000252519.3_Silent_p.L9L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	9					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACAAGGCTGAGAAGGAGCC	0.468000													25	37					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110757205	110757205	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:110757205G>T	ENST00000317735.4	+	4	474	c.440G>T	c.(439-441)gGa>gTa	p.G147V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	147					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TTGATTCTGGGAGCCTGGATC	0.453000													50	185					1.30409e-13	1.72686e-13	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21106021	21106021	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:21106021C>A	ENST00000255882.6	-	26	3096	c.3010G>T	c.(3010-3012)Ggg>Tgg	p.G1004W	PI4KA_ENST00000572273.1_Missense_Mutation_p.G946W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	946					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCACAGTCCCGCTCCAGAGC	0.607000													13	45					0.0202918	0.0206394	1	1	0
TTN	7273	broad.mit.edu	37	2	179633560	179633560	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179633560C>A	ENST00000589042.1	-	38	9227	c.9003G>T	c.(9001-9003)tgG>tgT	p.W3001C	TTN_ENST00000460472.2_Missense_Mutation_p.W2955C|TTN_ENST00000359218.5_Missense_Mutation_p.W2955C|TTN_ENST00000342992.6_Missense_Mutation_p.W3001C|TTN_ENST00000360870.5_Missense_Mutation_p.W3001C|TTN_ENST00000342175.6_Missense_Mutation_p.W2955C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W3001C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2740	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCTTTAACCATTTGTAAG	0.393000													18	82					9.16793e-09	1.10072e-08	1	1	0
ODF4	146852	broad.mit.edu	37	17	8248781	8248781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:8248781T>C	ENST00000328248.2	+	2	763	c.575T>C	c.(574-576)cTa>cCa	p.L192P	ODF4_ENST00000584943.1_Missense_Mutation_p.L77P	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTGCTTATCCTATACTTCACC	0.537000													41	178					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870120	189870120	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:189870120T>A	ENST00000304636.3	+	41	3146	c.2976T>A	c.(2974-2976)cgT>cgA	p.R992R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	992	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGGAGAACGTGGTCCCCCTG	0.453000													27	111					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142711416	142711416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:142711416C>T	ENST00000230173.6	+	7	1720	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	GPR126_ENST00000367609.3_Missense_Mutation_p.S415F|GPR126_ENST00000296932.8_Missense_Mutation_p.S387F|GPR126_ENST00000367608.2_Missense_Mutation_p.S387F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	415					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)		TATAGAATATCCGTAGTGATT	0.313000													50	60					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91728095	91728095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:91728095G>A	ENST00000294696.5	-	36	4036	c.1634C>T	c.(1633-1635)cCa>cTa	p.P545L	HFM1_ENST00000370424.3_Silent_p.P1022P|HFM1_ENST00000370425.3_Silent_p.P1343P|HFM1_ENST00000462405.1_5'UTR			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	0	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTGAACTTGGGCATAGCAG	0.318000													25	125					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139701189	139701189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139701189G>T	ENST00000303045.6	-	37	3279	c.2833C>A	c.(2833-2835)Cca>Aca	p.P945T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P945T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	945	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTTTCCCTGGGGTGCCTCTG	0.522000										HNSCC(7;0.00092)			28	119					7.01153e-11	8.85909e-11	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22157133	22157133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:22157133C>A	ENST00000397126.4	-	4	851	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGCTTTGCCACATTCTTTA	0.378000													45	64					3.54909e-21	5.19905e-21	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332036	100332036	+	RNA	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:100332036A>T	ENST00000341853.1	-	0	2155					NR_003260.1																						AAGAGGCTGCACTCCACCTCT	0.552000													18	45					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172787	5172787	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5172787G>T	ENST00000380367.1	-	2	1230	c.813C>A	c.(811-813)atC>atA	p.I271I	OR52A1_ENST00000328942.1_Silent_p.I271I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	271					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAAGGGGAGATGTGAGACC	0.433000													26	101					4.47668e-21	6.53307e-21	1	1	0
PSMG1	8624	broad.mit.edu	37	21	40547564	40547564	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:40547564T>A	ENST00000331573.3	-	7	1284	c.819A>T	c.(817-819)ctA>ctT	p.L273L	PSMG1_ENST00000380900.2_Silent_p.L252L	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	273					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TCAATTTCTTTAGTATCTCAG	0.393000											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	104					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128118392	128118392	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:128118392C>A	ENST00000284694.7	-	7	2045	c.1925G>T	c.(1924-1926)tGc>tTc	p.C642F	C10orf90_ENST00000544758.1_Missense_Mutation_p.C739F|C10orf90_ENST00000454341.1_Missense_Mutation_p.C545F|C10orf90_ENST00000356858.3_Missense_Mutation_p.C595F|C10orf90_ENST00000480379.1_Missense_Mutation_p.C46F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	642										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGAAATGCACCGTTCTTT	0.398000													15	53					3.35478e-16	4.60015e-16	1	1	0
PLSCR2	57047	broad.mit.edu	37	3	146173113	146173113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:146173113C>G	ENST00000497985.1	-	6	892	c.453G>C	c.(451-453)agG>agC	p.R151S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R78S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	78					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATCAGTAATCCTCAAGGTAA	0.428000													73	96					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977161	160977161	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:160977161A>T	ENST00000447678.1	-	31	4989	c.4869T>A	c.(4867-4869)agT>agA	p.S1623R	LPA_ENST00000316300.5_Missense_Mutation_p.S1623R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4131	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCCTCGATAACTCTGGCCAT	0.488000													35	124					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166099	21166099	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:21166099G>A	ENST00000380225.1	-	1	560	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.383000													119	208					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723990	30723990	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:30723990G>T	ENST00000361762.2	+	1	1954	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D316Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	316	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTACGAGGCCGACTTGGCTGA	0.672000													6	33					0.217242	0.217806	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29911144	29911144	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:29911144T>A	ENST00000396634.1	+	5	784	c.443T>A	c.(442-444)aTc>aAc	p.I148N	HLA-A_ENST00000376809.5_Missense_Mutation_p.I148N|HLA-A_ENST00000376802.2_Missense_Mutation_p.I148N|HLA-A_ENST00000376806.5_Missense_Mutation_p.I148N			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	148	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGGATTACATCGCCCTGAAC	0.642000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			24	17					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81925123	81925123	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:81925123A>C	ENST00000359376.3	+	11	1128	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	305					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGATGAGAAGTATGACGCG	0.488000													13	23					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101266281	101266281	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:101266281C>A	ENST00000223167.4	-	4	522	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	115	EF-hand 1.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACCCACCCAGCGCGGCAAAGG	0.622000													8	33					7.48243e-07	8.58311e-07	1	1	0
PDGFC	56034	broad.mit.edu	37	4	157689137	157689137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:157689137C>G	ENST00000502773.1	-	5	1199	c.709G>C	c.(709-711)Gat>Cat	p.D237H	PDGFC_ENST00000542208.1_Missense_Mutation_p.D82H|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74H|PDGFC_ENST00000422544.2_Missense_Mutation_p.D237H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	237					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGGTTCAGATCCACCACTATA	0.358000													24	137					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287687	202287687	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287687C>T	ENST00000367278.3	+	18	2345	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	LGR6_ENST00000439764.2_Silent_p.I613I|LGR6_ENST00000255432.7_Silent_p.I700I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	752						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCCTACATCAAACTGTACT	0.637000													25	58					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403307	54403307	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:54403307G>T	ENST00000040584.4	+	1	476	c.239G>T	c.(238-240)aGc>aTc	p.S80I		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	80						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGCTCGCTTAGCTGCCACGGA	0.607000													72	270					6.5469e-37	1.01287e-36	1	1	0
APOBEC3C	27350	broad.mit.edu	37	22	39414289	39414289	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:39414289G>C	ENST00000361441.3	+	4	750	c.470G>C	c.(469-471)tGg>tCg	p.W157S	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	157					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AAATATTGTTGGGAAAACTTT	0.478000													63	274					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480724	7480724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7480724G>T	ENST00000293831.8	+	7	703	c.687G>T	c.(685-687)agG>agT	p.R229S	EIF4A1_ENST00000582746.1_Missense_Mutation_p.R229S|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R229S|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	229	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTTCATGAGGGACCCCATTC	0.517000													15	85					0.000308642	0.000326399	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100961639	100961639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:100961639G>A	ENST00000193391.7	-	14	3102	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	972	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GACGTTAGGAGGGACAGAATT	0.428000													78	132					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123057507	123057507	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:123057507A>T	ENST00000333479.7	+	25	2220	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E644D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	681					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACACAGAGGAAGTATGTCAGC	0.323000													3	16					0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38621482	38621482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:38621482C>T	ENST00000361906.3	-	7	944	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V246I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	246						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AACTTGAGGACGGGGCTGTAG	0.592000													14	66					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143793017C>A	ENST00000408949.2	+	1	877	c.817C>A	c.(817-819)Ctt>Att	p.L273I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522000													110	336					1.98007e-57	3.08812e-57	1	1	0
ACLY	47	broad.mit.edu	37	17	40058022	40058022	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:40058022C>T	ENST00000352035.2	-	11	1240	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	ACLY_ENST00000590151.1_Silent_p.E370E|ACLY_ENST00000393896.2_Silent_p.E370E|ACLY_ENST00000353196.1_Silent_p.E370E|ACLY_ENST00000537919.1_Silent_p.E109E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	370					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGACTTCGTGCTCCTTCAGGG	0.517000													43	149					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475167	17475167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:17475167G>C	ENST00000377873.3	-	8	1589	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	BFSP1_ENST00000544874.1_Missense_Mutation_p.P378R|BFSP1_ENST00000536626.1_Missense_Mutation_p.P378R|BFSP1_ENST00000377868.2_Missense_Mutation_p.P392R	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	517	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGGGCTTGGGTGACTCAGG	0.527000													21	74					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976076	111976076	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111976076G>T	ENST00000374566.3	-	17	2173	c.1656C>A	c.(1654-1656)gcC>gcA	p.A552A		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	552						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGAACAAGGCAGGTGTTC	0.493000													22	73					8.10497e-08	9.50918e-08	1	1	0
PPL	5493	broad.mit.edu	37	16	4941824	4941824	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4941824C>G	ENST00000345988.2	-	16	2045	c.1956G>C	c.(1954-1956)ggG>ggC	p.G652G	PPL_ENST00000590782.2_Silent_p.G650G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	652					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGCTCCTGCCCCTTGCTGT	0.602000													56	136					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267770	66267770	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:66267770A>C	ENST00000327268.4	-	6	695	c.531T>G	c.(529-531)atT>atG	p.I177M	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I177M	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	177						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ATCTCCAGCCAATGCGCTCCT	0.473000													13	60					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423820	152423820	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:152423820C>A	ENST00000397345.3	-	114	18220	c.18018G>T	c.(18016-18018)atG>atT	p.M6006I	NEB_ENST00000172853.10_Missense_Mutation_p.M4305I|NEB_ENST00000427231.2_Missense_Mutation_p.M6006I|NEB_ENST00000603639.1_Missense_Mutation_p.M6006I|NEB_ENST00000604864.1_Missense_Mutation_p.M6006I|NEB_ENST00000409198.1_Missense_Mutation_p.M4305I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6023					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGACTGACACCATATCAGCAG	0.448000													32	86					8.16721e-17	1.13197e-16	1	1	0
APLP1	333	broad.mit.edu	37	19	36369532	36369532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:36369532C>A	ENST00000221891.4	+	14	1818	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	APLP1_ENST00000586861.1_Missense_Mutation_p.N535K|APLP1_ENST00000537454.2_Missense_Mutation_p.N502K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	541					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAGATGAACCCGCTGGAAC	0.483000													7	74					8.12818e-05	8.82554e-05	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76868401	76868401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:76868401G>T	ENST00000409709.3	+	8	1084	c.812G>T	c.(811-813)gGc>gTc	p.G271V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G260V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G271V|MYO7A_ENST00000409893.1_Missense_Mutation_p.G271V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	271	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAAGCTGGGCTTGGGCCAG	0.582000													9	12					0.000274275	0.000291653	1	1	0
RFX4	5992	broad.mit.edu	37	12	107109260	107109260	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:107109260C>A	ENST00000392842.1	+	11	1490	c.1076C>A	c.(1075-1077)aCc>aAc	p.T359N	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.T265N|RFX4_ENST00000357881.4_Missense_Mutation_p.T368N|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	359	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AACAGCATCACCAAGCAAACC	0.483000													6	51					0.000157383	0.00016875	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13873432	13873432	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:13873432G>A	ENST00000586600.1	+	11	1244	c.741G>A	c.(739-741)cgG>cgA	p.R247R	CCDC130_ENST00000221554.8_Silent_p.R247R|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	247					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AACTCAAGCGGACCGAGATCA	0.627000													45	22					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68346361	68346361	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:68346361C>T	ENST00000297770.4	-	9	1168	c.953G>A	c.(952-954)aGg>aAg	p.R318K	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	318					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAGATAAGCCCTAATGTGCTT	0.408000													49	126					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67787208	67787208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:67787208G>A	ENST00000539229.1	+	7	618	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G132R|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.G168R|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G168R	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	169					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGTGCTGGGCGGGCCCCAGGA	0.672000													19	119					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139275783	139275783	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:139275783C>T	ENST00000298532.2	-	18	2747	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	793					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTGGGTAAACAGGGTAAACA	0.527000													102	193					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105406081	105406081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:105406081C>A	ENST00000345080.4	+	2	321	c.118C>A	c.(118-120)Cgc>Agc	p.R40S		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	40	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GTTCAATGTGCGCATGGGATT	0.512000													62	72					7.22619e-39	1.1202e-38	1	1	0
DEFB129	140881	broad.mit.edu	37	20	210098	210098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:210098C>T	ENST00000246105.4	+	2	269	c.238C>T	c.(238-240)Caa>Taa	p.Q80*		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	80					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGAAGACGTCCAAGAAATGCT	0.338000													28	104					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6976041	6976041	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:6976041C>T	ENST00000389658.3	-	45	6477	c.6384G>A	c.(6382-6384)cgG>cgA	p.R2128R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2128	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGGTAGGCCCGGATGCAAT	0.468000													123	117					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119536008	119536008	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:119536008C>T	ENST00000264025.3	-	6	1534		c.e6-1		PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGGGGAATTCTGGGTGAGGA	0.662000													7	25					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446970	226446970	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:226446970G>T	ENST00000272907.6	+	4	1250	c.837G>T	c.(835-837)ttG>ttT	p.L279F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	279																	TTGACGACTTGGGCCAAGACG	0.542000													38	113					3.62531e-18	5.15421e-18	1	1	0
GRM8	2918	broad.mit.edu	37	7	126883063	126883063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:126883063C>A	ENST00000339582.2	-	2	1004	c.196G>T	c.(196-198)Gag>Tag	p.E66*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.E66*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.E66*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.E66*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	66					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCTTCAGCTCCCCACAAGGC	0.527000										HNSCC(24;0.065)			34	60					1.61788e-16	2.23435e-16	1	1	0
CROCC	9696	broad.mit.edu	37	1	17249221	17249221	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:17249221G>T	ENST00000375541.5	+	2	193	c.124G>T	c.(124-126)Gct>Tct	p.A42S		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	42					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCAGGACGCTCAGATCAC	0.647000													24	76					6.21321e-17	8.65812e-17	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875869	247875869	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:247875869C>G	ENST00000302084.2	-	1	236	c.189G>C	c.(187-189)ctG>ctC	p.L63L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAGGTTGCTCAGAAAGAAGT	0.473000													25	161					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100552811	100552811	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:100552811C>A	ENST00000397112.4	-	0	1448					NR_036632.1															large_intestine(1)|lung(3)	4						GCAGCCGGTCCACGAGCTGGG	0.597000													2	2					0.0784	0.0791174	1	1	0
STRADA	92335	broad.mit.edu	37	17	61791372	61791372	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:61791372C>A	ENST00000245865.5	-	4	255	c.46G>T	c.(46-48)Gtg>Ttg	p.V16L	STRADA_ENST00000447001.3_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.V37L|STRADA_ENST00000336174.6_Missense_Mutation_p.V74L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000582137.1_Missense_Mutation_p.V45L|STRADA_ENST00000375840.4_Missense_Mutation_p.V16L|STRADA_ENST00000579340.1_Missense_Mutation_p.V16L			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	74					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ATACCTATCACAGTGAGCAGC	0.537000													27	86					3.73988e-18	5.2976e-18	1	1	0
SIAH3	283514	broad.mit.edu	37	13	46425705	46425705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:46425705C>G	ENST00000400405.2	-	1	166	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	20					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCTTGTAGTGCTGAAACCGGA	0.502000													26	52					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657178	143657178	+	Missense_Mutation	SNP	G	G	A	rs141187562	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143657178G>A	ENST00000392899.1	+	1	152	c.115G>A	c.(115-117)Gtg>Atg	p.V39M		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTGGTGACCGTGCTGGGGAA	0.522000													51	280					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50280806	50280806	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:50280806T>G	ENST00000216268.4	+	2	3973	c.3496T>G	c.(3496-3498)Tta>Gta	p.L1166V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1166						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAATCTTCCCTTAATATACTT	0.483000													17	58					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617225	111617225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111617225G>A	ENST00000374667.3	-	1	2014	c.986C>T	c.(985-987)aCg>aTg	p.T329M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	329						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTGAAGCCCGTGTCCTGGCA	0.667000													9	187					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105204721	105204721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:105204721G>A	ENST00000332972.5	+	3	592	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V102M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	102					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGGCAACGGGGTGGTCATCCA	0.527000													9	56					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351501	134351501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:134351501G>T	ENST00000357304.4	+	15	4040	c.3985G>T	c.(3985-3987)Gag>Tag	p.E1329*	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1329							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTGGGGACCCGAGGAGGAGCC	0.687000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	82					1.77063e-15	2.40233e-15	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130368271	130368271	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:130368271C>A	ENST00000358511.6	+	32	5629	c.5598C>A	c.(5596-5598)atC>atA	p.I1866I	COL6A6_ENST00000453409.2_Silent_p.I1866I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1866	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGAGAAAAATCGCCACATTTT	0.552000													6	36					3.59834e-05	3.9459e-05	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5951148	5951148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:5951148C>T	ENST00000379999.5	+	6	1168	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P304L|FBXO18_ENST00000379994.1_Missense_Mutation_p.P41L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	304					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGTGCTCTCCGAGTGTGGAT	0.572000													23	78					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562840	32562840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:32562840C>T	ENST00000345122.3	+	2	3280	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P989S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	989					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAGCACCACCTCCTTATAG	0.408000													36	149					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37623650	37623650	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:37623650C>A	ENST00000434837.2	-	4	1583	c.405G>T	c.(403-405)acG>acT	p.T135T	MDGA1_ENST00000505425.1_Silent_p.T135T|MDGA1_ENST00000297153.7_Silent_p.T135T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	135	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTGGTGCACCGTCAGCATTG	0.617000													6	23					3.59834e-05	3.9459e-05	1	1	0
FAT4	79633	broad.mit.edu	37	4	126336241	126336241	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:126336241G>A	ENST00000394329.3	+	5	6136	c.6123G>A	c.(6121-6123)ttG>ttA	p.L2041L	FAT4_ENST00000335110.5_Silent_p.L339L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2041	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATTATTTTGTTGGATGTAA	0.408000													53	204					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466127	160466127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:160466127C>A	ENST00000368059.3	-	2	175	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.E36*|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	36						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTTACTGACTCCCCCAGAATC	0.443000													53	319					2.84144e-21	4.17032e-21	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100331990	100331990	+	RNA	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:100331990T>A	ENST00000341853.1	-	0	2201					NR_003260.1																						CCATTTCACCTGTGACCAACA	0.552000													16	49					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89430511	89430511	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:89430511C>A	ENST00000359595.3	-	2	233	c.19G>T	c.(19-21)Gtc>Ttc	p.V7F	HAPLN3_ENST00000562889.1_Missense_Mutation_p.V69F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	7					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGCAACGGGACCAGGAGCAAC	0.607000													11	40					0.00136819	0.00142543	1	1	0
CUBN	8029	broad.mit.edu	37	10	16941115	16941115	+	Silent	SNP	G	G	T	rs147986316		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:16941115G>T	ENST00000377833.4	-	54	8543	c.8478C>A	c.(8476-8478)ccC>ccA	p.P2826P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2826	CUB 21.				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)	TGCTGTTTTCGGGAAAATTCT	0.423000													23	97					1.22574e-08	1.46708e-08	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181767889	181767889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181767889G>T	ENST00000526775.1	+	46	6840	c.6675G>T	c.(6673-6675)agG>agT	p.R2225S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2238S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2176S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2287S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2244S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2268S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1851S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2287					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGCGGAGGCGCGGGGGGC	0.647000													8	12					1.12685e-05	1.25894e-05	1	1	0
LIN28A	79727	broad.mit.edu	37	1	26752798	26752798	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:26752798A>C	ENST00000326279.6	+	4	593	c.479A>C	c.(478-480)aAg>aCg	p.K160T	LIN28A_ENST00000254231.4_Missense_Mutation_p.K160T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	160					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CAGCCCAAGAAGTGCCACTTC	0.522000													23	61					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91029485	91029485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:91029485G>A	ENST00000522161.1	+	4	859	c.176G>A	c.(175-177)gGt>gAt	p.G59D	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.G68D			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	68					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)			ACTGGGGGAGGTACTGGCCTT	0.458000													35	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179602967	179602967	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179602967C>T	ENST00000589042.1	-	49	14437	c.14213G>A	c.(14212-14214)cGa>cAa	p.R4738Q	TTN_ENST00000460472.2_Missense_Mutation_p.R4375Q|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4500Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3494Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4567Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4421Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4421	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAAATTTCTCGGCCAGCTTT	0.473000													16	52					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524588	23524588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:23524588G>A	ENST00000296682.3	+	10	1278	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	366					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGGAACTGGGCATCAAGTG	0.488000										HNSCC(3;0.000094)			25	80					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32398774	32398774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:32398774C>A	ENST00000357033.4	-	34	4904	c.4698G>T	c.(4696-4698)ttG>ttT	p.L1566F	DMD_ENST00000378677.2_Missense_Mutation_p.L1562F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1566	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCATTTCTCCAACTGTTGCT	0.338000													45	56					1.5731e-28	2.40007e-28	1	1	0
ZNF568	374900	broad.mit.edu	37	19	37441338	37441338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37441338C>T	ENST00000415168.1	+	5	1467	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.S428F	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTCTCTCAGAGTTCA	0.398000													23	109					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841583	100841583	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:100841583C>A	ENST00000369208.3	-	11	2132	c.1350G>T	c.(1348-1350)gcG>gcT	p.A450A	SIM1_ENST00000262901.4_Silent_p.A450A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622000													43	69					4.67007e-22	6.89348e-22	1	1	0
ANKEF1	63926	broad.mit.edu	37	20	10036259	10036259	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:10036259A>T	ENST00000378380.3	+	10	2611	c.2282A>T	c.(2281-2283)aAg>aTg	p.K761M	ANKEF1_ENST00000378392.1_Missense_Mutation_p.K761M|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CCTTTTCAGAAGAACATCACA	0.483000													14	63					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818635	91818635	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:91818635A>G	ENST00000370425.3	-	15	1902	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.F281L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	602	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAACAGTAAAAGCTCCCTCA	0.308000													25	68					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935918	151935918	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:151935918G>T	ENST00000393902.3	-	3	816	c.249C>A	c.(247-249)tcC>tcA	p.S83S	MAGEA3_ENST00000370278.3_Silent_p.S83S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	83										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTCATAGGATTGGCTCC	0.607000													34	31					4.14481e-20	5.98092e-20	1	1	0
AGGF1	55109	broad.mit.edu	37	5	76332480	76332480	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:76332480G>C	ENST00000312916.7	+	4	998	c.616G>C	c.(616-618)Gga>Cga	p.G206R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	206					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCACAGACTGGATTTAGTTA	0.398000													31	106					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404447	9404447	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:9404447A>G	ENST00000378501.2	+	24	2351	c.2336A>G	c.(2335-2337)aAc>aGc	p.N779S	PLCB4_ENST00000378493.1_Missense_Mutation_p.N779S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N791S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N779S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N779S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N791S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	779	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GATGATAACAACAAGCTGATT	0.478000													10	37					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103904779	103904779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:103904779G>C	ENST00000278070.2	+	8	3650	c.3611G>C	c.(3610-3612)gGc>gCc	p.G1204A	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.G171A|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCGCCAGCGGCGTTGACATT	0.552000													9	39					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26317307	26317307	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:26317307C>T	ENST00000335473.7	+	34	5698	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	MYO18B_ENST00000407587.2_Silent_p.L1817L|MYO18B_ENST00000536101.1_Silent_p.L1816L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGTGCAGCTCCTTCTGGGCA	0.557000													4	5					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503659	90503659	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90503659G>T	ENST00000325643.5	+	4	4323	c.4257G>T	c.(4255-4257)agG>agT	p.R1419S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ACCACCACAGGCCAAGAATGG	0.602000													22	72					2.21704e-12	2.86213e-12	1	1	0
PGM1	5236	broad.mit.edu	37	1	64117371	64117371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:64117371G>A	ENST00000371083.4	+	9	1734	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	PGM1_ENST00000371084.3_Missense_Mutation_p.A438T|PGM1_ENST00000540265.1_Missense_Mutation_p.A241T|PGM1_ENST00000483707.1_3'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	438					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTGAGGGCGCAAACAAAAT	0.512000													14	37					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89662999	89662999	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:89662999C>A	ENST00000268720.5	+	17	2002	c.1872C>A	c.(1870-1872)gcC>gcA	p.A624A	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A549A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	624					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGTCCCTGCCGGAGAGGCCA	0.662000													28	32					2.12542e-12	2.74844e-12	1	1	0
TRIM9	114088	broad.mit.edu	37	14	51489654	51489654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:51489654C>T	ENST00000298355.3	-	3	2061	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	TRIM9_ENST00000338969.5_Missense_Mutation_p.A314T|TRIM9_ENST00000360392.4_Missense_Mutation_p.A314T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	314				A -> V (in Ref. 2; BAB70913).	proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCAGACAGGCTTCAAACTCC	0.547000													33	80					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51451950	51451950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:51451950C>G	ENST00000336334.3	-	5	1024	c.672G>C	c.(670-672)caG>caC	p.Q224H	KLK5_ENST00000391809.2_Missense_Mutation_p.Q224H|KLK5_ENST00000593428.1_Missense_Mutation_p.Q224H	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	224	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTCATCTATCTGTCTCGGGT	0.502000													18	48					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40076563	40076563	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:40076563C>G	ENST00000373233.3	-	24	3909	c.3732G>C	c.(3730-3732)ctG>ctC	p.L1244L	CHD6_ENST00000309279.7_Silent_p.L727L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1244					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCTTCTCCCAGTATTTCAG	0.378000													26	131					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741330	81741330	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:81741330C>T	ENST00000550584.2	-	17	2509	c.2214G>A	c.(2212-2214)cgG>cgA	p.R738R	PPFIA2_ENST00000552948.1_Silent_p.R738R|PPFIA2_ENST00000550359.2_Silent_p.R585R|PPFIA2_ENST00000333447.7_Silent_p.R720R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Silent_p.R639R|PPFIA2_ENST00000549396.1_Silent_p.R738R|PPFIA2_ENST00000541570.2_Silent_p.R305R|PPFIA2_ENST00000407050.4_Silent_p.R664R|PPFIA2_ENST00000548586.1_Silent_p.R738R|PPFIA2_ENST00000549325.1_Silent_p.R720R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	664										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGACTCCCATCCGATCCATTT	0.498000													41	171					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97063150	97063150	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:97063150G>T	ENST00000395395.2	+	5	1400	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CAGTGTGGGCGGGGTTTTAGC	0.582000													28	58					1.68575e-08	2.01456e-08	1	1	0
RAF1	5894	broad.mit.edu	37	3	12660013	12660013	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:12660013C>T	ENST00000251849.4	-	2	647		c.e2+1		RAF1_ENST00000542177.1_Splice_Site|RAF1_ENST00000442415.2_Splice_Site	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1						activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTTCACATACCACTGTTCTT	0.408000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				28	55					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78953340	78953340	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:78953340A>C	ENST00000545128.1	+	34	5400	c.4862A>C	c.(4861-4863)cAt>cCt	p.H1621P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	786					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGAGATGCCATCCGACTTGT	0.448000													10	42					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147851	82147851	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:82147851C>G	ENST00000550584.2	-	2	445	c.150G>C	c.(148-150)cgG>cgC	p.R50R	PPFIA2_ENST00000552948.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTGGGTCTCCCGAAGGGTGT	0.527000													8	31					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293581	145293581	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:145293581G>T	ENST00000342960.5	+	1	210		c.e1+1		NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Splice_Site|RP11-458D21.5_ENST00000468030.1_Splice_Site	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGAAATACAGTAAGATCTAT	0.428000													31	693					6.70999e-13	8.73543e-13	1	1	0
NEFH	4744	broad.mit.edu	37	22	29885177	29885177	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:29885177C>A	ENST00000310624.6	+	4	1581	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	516	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGCCAAGTCACCAG	0.557000													13	48					7.93312e-07	9.07314e-07	1	1	0
NFASC	23114	broad.mit.edu	37	1	204966434	204966434	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:204966434C>A	ENST00000367172.4	+	27	3568	c.3240C>A	c.(3238-3240)acC>acA	p.T1080T	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Silent_p.T973T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000339876.6_Silent_p.T973T|NFASC_ENST00000367171.4_Silent_p.T1065T|NFASC_ENST00000338515.6_Silent_p.T1080T|NFASC_ENST00000360049.4_Intron			O94856	NFASC_HUMAN	neurofascin	1080	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccatcgccaccaccaccaccg	0.612000													10	17					6.40141e-05	6.98007e-05	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973894	29973894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:29973894C>T	ENST00000378993.1	+	11	2721	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P683L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	683					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCATCCTGCCGCTGTTGCCA	0.537000													11	12					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127623023	127623023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:127623023C>A	ENST00000508053.1	-	60	7831	c.6857G>T	c.(6856-6858)aGg>aTg	p.R2286M	FBN2_ENST00000262464.4_Missense_Mutation_p.R2286M			P35556	FBN2_HUMAN	fibrillin 2	2286	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGATCTTCCCTGAGGGCATA	0.458000													27	123					1.26454e-06	1.44412e-06	1	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179291042	179291042	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:179291042G>T	ENST00000356834.3	-	22	3196	c.3159C>A	c.(3157-3159)acC>acA	p.T1053T	TBC1D9B_ENST00000444477.2_Silent_p.T194T|TBC1D9B_ENST00000355235.3_Silent_p.T1036T|TBC1D9B_ENST00000519746.1_Silent_p.T212T|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1053						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGCCACGGTGGCGATGG	0.587000													11	58					3.86212e-05	4.22317e-05	1	1	0
NAV3	89795	broad.mit.edu	37	12	78573385	78573385	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78573385T>C	ENST00000397909.2	+	29	5613	c.5440T>C	c.(5440-5442)Tta>Cta	p.L1814L	NAV3_ENST00000536525.2_Silent_p.L1792L|NAV3_ENST00000266692.7_Silent_p.L1615L|NAV3_ENST00000228327.6_Silent_p.L1792L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1814						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAATTAAAATTAACGGATAT	0.468000										HNSCC(70;0.22)			26	91					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202343226	202343226	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:202343226A>G	ENST00000194530.3	+	10	1337	c.972A>G	c.(970-972)acA>acG	p.T324T	STRADB_ENST00000392249.2_Silent_p.T324T	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	324	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GAACTCACACAGTAAATAGTG	0.428000													22	77					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405444	47405444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47405444G>A	ENST00000295454.3	+	6	946	c.654G>A	c.(652-654)atG>atA	p.M218I	GABRB1_ENST00000538619.1_Missense_Mutation_p.M148I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	218					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTACAAGATGGTGTCTAAGA	0.418000													23	83					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928536	32928536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:32928536G>T	ENST00000361627.3	+	12	2284	c.1562G>T	c.(1561-1563)tGg>tTg	p.W521L	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.W332L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.W332L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CGGATGTCTTGGACAGGACCT	0.383000													26	100					4.26978e-12	5.46645e-12	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40114611	40114611	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:40114611T>A	ENST00000324616.5	+	13	1671	c.1517T>A	c.(1516-1518)aTa>aAa	p.I506K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	506										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GAAGATCAAATATCACAGCAA	0.289000													14	76					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172863	51172863	+	Missense_Mutation	SNP	G	G	C	rs143637930		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:51172863G>C	ENST00000440970.1	-	2	3410	c.2979C>G	c.(2977-2979)aaC>aaG	p.N993K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.N1090K|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1090					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCACGAAGCCGTTGACCTCTG	0.567000													37	46					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937013	4937013	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:4937013C>A	ENST00000512825.2	-	3	2182	c.771G>T	c.(769-771)ccG>ccT	p.P257P	SLC52A1_ENST00000424747.1_Silent_p.P257P|SLC52A1_ENST00000254853.5_Silent_p.P257P			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	257						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGCCTGGCTCGGTGGCTCCT	0.617000													19	63					3.99206e-14	5.31357e-14	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181702879	181702879	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:181702879G>T	ENST00000526775.1	+	20	3363	c.3198G>T	c.(3196-3198)gtG>gtT	p.V1066V	CACNA1E_ENST00000357570.5_Silent_p.V1036V|CACNA1E_ENST00000358338.5_Silent_p.V1017V|CACNA1E_ENST00000367573.2_Silent_p.V1085V|CACNA1E_ENST00000367570.1_Silent_p.V1085V|CACNA1E_ENST00000360108.3_Silent_p.V1066V|CACNA1E_ENST00000367567.4_Silent_p.V692V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1085					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCAACCGTGGTGCACAGTG	0.617000													17	21					4.7546e-09	5.75322e-09	1	1	0
CCDC38	120935	broad.mit.edu	37	12	96312657	96312657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:96312657T>A	ENST00000344280.3	-	3	692	c.135A>T	c.(133-135)gaA>gaT	p.E45D		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	45										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTTACCGTTTCCTTTGCTG	0.368000													23	75					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128724193	128724193	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:128724193C>T	ENST00000371113.4	+	24	2817	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	OCRL_ENST00000357121.5_Silent_p.R876R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	884	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAAGTGACCGCCAGCGTGCTA	0.498000													72	98					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657969	50657969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:50657969G>T	ENST00000293405.3	-	6	511	c.511C>A	c.(511-513)Cgc>Agc	p.R171S		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	171						integral to membrane		p.R171C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGGGCCACGCGGGGTTGCCGG	0.617000													27	89					3.01185e-09	3.65015e-09	1	1	0
ZNF610	162963	broad.mit.edu	37	19	52869692	52869692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:52869692G>C	ENST00000601151.1	+	5	1384	c.932G>C	c.(931-933)aGt>aCt	p.S311T	ZNF610_ENST00000321287.8_Missense_Mutation_p.S354T|ZNF610_ENST00000403906.3_Missense_Mutation_p.S354T|ZNF610_ENST00000327920.8_Missense_Mutation_p.S354T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAGGTCTTTAGTCTGCTTTCA	0.423000													36	95					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878528	878528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:878528C>G	ENST00000323510.4	-	8	924	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	BRD9_ENST00000388890.4_Missense_Mutation_p.E289Q|BRD9_ENST00000483173.1_Missense_Mutation_p.E352Q|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.E405Q			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	405							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCTCCATCTCGTCCGACTTC	0.567000													13	75					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56212587	56212587	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:56212587G>A	ENST00000264228.4	+	1	312	c.84G>A	c.(82-84)ctG>ctA	p.L28L		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	28					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCTTCCTGCTGACCCTACTGC	0.716000													6	14					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53367338	53367338	+	Missense_Mutation	SNP	G	G	A	rs4803014	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:53367338G>A	ENST00000597909.1	-	6	534	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATAAAGCGTTCTGTGCAG	0.448000													4	69					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287123	202287123	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287123C>T	ENST00000367278.3	+	18	1781	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	LGR6_ENST00000439764.2_Silent_p.I425I|LGR6_ENST00000255432.7_Silent_p.I512I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	564						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGGGGCATCCGCCTGGCCG	0.622000													38	82					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499845	59499845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:59499845G>T	ENST00000307144.4	+	1	804	c.706G>T	c.(706-708)Gga>Tga	p.G236*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	236					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	AAGCTGCCATGGATGGATCCT	0.458000													24	102					2.39556e-15	3.23884e-15	1	1	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572000		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)			15	42					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307994	140307994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140307994C>T	ENST00000253807.2	+	1	1517	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A506V|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGTGGGGCCATCACTGCC	0.522000													28	116					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97717497	97717497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:97717497G>A	ENST00000375315.2	+	7	1700	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	C9orf3_ENST00000297979.5_Missense_Mutation_p.G468E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	567					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGTGACTCGGGAGCATCTGTT	0.378000													15	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431082	179431082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:179431082C>T	ENST00000589042.1	-	326	80001	c.79777G>A	c.(79777-79779)Gac>Aac	p.D26593N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17528N|TTN_ENST00000359218.5_Missense_Mutation_p.D17653N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24025N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17720N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24952N|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24952	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCAAGGTCAAGTTCAGGT	0.433000													56	203					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431833	135431833	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:135431833T>A	ENST00000394143.1	+	6	6259	c.5968T>A	c.(5968-5970)Tca>Aca	p.S1990T	GPR112_ENST00000370652.1_Missense_Mutation_p.S1990T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1927T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1785T|GPR112_ENST00000394141.1_Missense_Mutation_p.S1785T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1990					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACACTCCCATCAATTCTTTC	0.448000													35	66					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108788	147108788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:147108788C>G	ENST00000383075.3	-	4	1446	c.934G>C	c.(934-936)Gac>Cac	p.D312H	ZIC4_ENST00000484399.1_Missense_Mutation_p.D312H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D362H|ZIC4_ENST00000473123.1_Missense_Mutation_p.D312H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D350H|ZIC4_ENST00000491672.1_Missense_Mutation_p.D106H|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	312						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGCCGCAGTCCGACGAGGGC	0.687000													11	40					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173026	207173026	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:207173026A>T	ENST00000374423.3	+	5	4160	c.3774A>T	c.(3772-3774)gaA>gaT	p.E1258D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1258							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCAACCTGAAGAAGTAGTTA	0.383000													19	56					0	0	1	0	0
LGALS16	148003	broad.mit.edu	37	19	40151103	40151103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:40151103T>G	ENST00000392051.3	+	4	440	c.372T>G	c.(370-372)atT>atG	p.I124M		NM_001190441.1	NP_001177370.1	A8MUM7	A8MUM7_HUMAN	lectin, galactoside-binding, soluble, 16	124							sugar binding										TGAAGATGATTCAAGTGTGGA	0.428000													10	6					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490599	48490599	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:48490599T>A	ENST00000273861.4	+	3	1176	c.957T>A	c.(955-957)gcT>gcA	p.A319A		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	319						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGGTTTAGCTACTCTCTTCC	0.458000													48	172					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403267	42403267	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:42403267C>G	ENST00000319234.4	+	2	734	c.516C>G	c.(514-516)ggC>ggG	p.G172G		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	172					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCTCCACAGGCGGCTCCATCC	0.672000													48	163					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891338	1891338	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:1891338C>G	ENST00000399161.2	-	17	3311	c.2564G>C	c.(2563-2565)cGg>cCg	p.R855P	MYT1L_ENST00000428368.2_Missense_Mutation_p.R853P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	855					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R855L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCGGGATACCGTCTTTCTTC	0.512000													37	133					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121207758	121207758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:121207758C>A	ENST00000392870.2	+	13	1719	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	GRK5_ENST00000369108.3_Missense_Mutation_p.P359T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	464	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGACCCTCCCTTCGTTCC	0.632000													35	172					9.45814e-24	1.40959e-23	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:158650416C>A	ENST00000368148.3	-	5	815	c.635G>T	c.(634-636)gGg>gTg	p.G212V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463000													48	130					2.24722e-20	3.261e-20	1	1	0
HOPX	84525	broad.mit.edu	37	4	57514899	57514899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:57514899G>A	ENST00000337881.7	-	3	865	c.209C>T	c.(208-210)tCc>tTc	p.S70F	HOPX_ENST00000553379.2_Missense_Mutation_p.S70F|HOPX_ENST00000508121.1_Missense_Mutation_p.S88F|HOPX_ENST00000556614.2_Missense_Mutation_p.S70F|HOPX_ENST00000555760.2_Missense_Mutation_p.S70F|HOPX_ENST00000381255.3_Missense_Mutation_p.S70F|HOPX_ENST00000503639.3_Missense_Mutation_p.S70F|HOPX_ENST00000420433.1_Missense_Mutation_p.S88F|HOPX_ENST00000317745.7_Missense_Mutation_p.S70F|HOPX_ENST00000556376.2_Missense_Mutation_p.S70F|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000554144.1_3'UTR	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	70					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GTCTGTGACGGATCTGCACTC	0.493000													23	124					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50091026	50091026	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:50091026G>A	ENST00000281631.5	+	12	1361	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L	PARP8_ENST00000514067.2_Silent_p.L401L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.L380L|PARP8_ENST00000505697.2_Silent_p.L401L|PARP8_ENST00000503750.2_Silent_p.L401L|PARP8_ENST00000514342.2_Silent_p.L154L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	401						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACACAAACTTGAAGCCCCATA	0.413000													31	83					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365157	120365157	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:120365157C>T	ENST00000283871.5	-	9	1065	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	202					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CACCATAGACCTCCAAGATGT	0.473000													16	91					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139790650	139790650	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:139790650C>A	ENST00000303045.6	-	15	2151		c.e15-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGGGGCCCCTGCAGAAGAG	0.567000										HNSCC(7;0.00092)			11	51					1.58986e-06	1.80496e-06	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222519	140222519	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140222519G>A	ENST00000531613.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R538H|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1												p.R538L(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCGGGC	0.667000													52	178					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519396	53519396	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:53519396T>C	ENST00000370905.3	-	2	815	c.675A>G	c.(673-675)ttA>ttG	p.L225L	KLHL31_ENST00000407079.1_Silent_p.L225L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	225	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGGCAACTGTAAGTCATCAT	0.328000													23	94					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217895	45217895	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:45217895C>T	ENST00000279027.4	-	7	939		c.e7-1		SLC13A3_ENST00000495082.1_Splice_Site|SLC13A3_ENST00000396360.1_Splice_Site|SLC13A3_ENST00000413164.2_Splice_Site|SLC13A3_ENST00000290317.5_Splice_Site|SLC13A3_ENST00000435032.1_Splice_Site|SLC13A3_ENST00000372121.1_Splice_Site|SLC13A3_ENST00000472148.1_Splice_Site	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTCCAGCCCCTGAAACAGAA	0.483000													28	77					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159043310	159043310	+	Splice_Site	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:159043310C>G	ENST00000368130.4	-	2	269		c.e2-1			NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2						cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGGGATCAGCCTATAAGGAAT	0.338000													32	163					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472410	92472410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:92472410C>T	ENST00000267622.4	-	11	2283	c.1910G>A	c.(1909-1911)aGt>aAt	p.S637N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	637					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTACTATTAGAGTC	0.299000			T	PDGFRB	AML								15	77					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56650821	56650821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:56650821C>T	ENST00000267116.7	-	4	360	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	80							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCAGCAGCACGATGAAGAGG	0.488000													5	23					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678134	37678134	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37678134C>A	ENST00000532828.2	-	5	556	c.305G>T	c.(304-306)tGg>tTg	p.W102L	ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47L|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102L|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.333000													22	89					1.10513e-12	1.4363e-12	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881799	228881799	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:228881799G>T	ENST00000392056.3	-	7	3817	c.3771C>A	c.(3769-3771)gcC>gcA	p.A1257A	SPHKAP_ENST00000344657.5_Silent_p.A1257A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1257						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAAAGAGTTGGCTTTGATGG	0.542000													29	75					1.12875e-08	1.3531e-08	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38155897	38155897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:38155897C>A	ENST00000308059.6	+	26	3752	c.3731C>A	c.(3730-3732)tCc>tAc	p.S1244Y	DLEC1_ENST00000452631.2_Missense_Mutation_p.S1247Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.S1244Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1244					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCATCAGCTCCCTGAGGACC	0.612000													12	32					3.07112e-06	3.47131e-06	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13931227	13931227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13931227C>T	ENST00000265104.4	-	2	288	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	62	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)					ACCTGATTCCCTTCAAGAATG	0.502000									Kartagener syndrome				28	83					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78583812	78583812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78583812C>T	ENST00000397909.2	+	34	6277	c.6104C>T	c.(6103-6105)cCt>cTt	p.P2035L	NAV3_ENST00000536525.2_Missense_Mutation_p.P2013L|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCTGATTCCTAAACCAATT	0.353000										HNSCC(70;0.22)			19	107					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295584	61295584	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:61295584C>A	ENST00000263846.4	-	5	752	c.425G>T	c.(424-426)aGt>aTt	p.S142I	SYT7_ENST00000542836.1_Missense_Mutation_p.S186I|SYT7_ENST00000542670.1_Missense_Mutation_p.S350I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.S217I|SYT7_ENST00000539008.1_Missense_Mutation_p.S425I|SYT7_ENST00000535826.1_Missense_Mutation_p.S261I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	142	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTAGCCGACACTGAACTGGAT	0.662000													28	72					3.73148e-12	4.78522e-12	1	1	0
SLC37A2	219855	broad.mit.edu	37	11	124950548	124950548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:124950548C>T	ENST00000403796.2	+	7	867	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SLC37A2_ENST00000308074.4_Missense_Mutation_p.S189F|SLC37A2_ENST00000298280.5_Missense_Mutation_p.S189F|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S189F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	189					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCCACACATCTGTGGGCAAC	0.547000													12	60					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216372990	216372990	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:216372990A>T	ENST00000366943.2	-	17	4176	c.3790T>A	c.(3790-3792)Tct>Act	p.S1264T	USH2A_ENST00000366942.3_Missense_Mutation_p.S1264T|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S1264T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1264	Fibronectin type-III 3.				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)		GCTGGTGGAGACCATTCTACA	0.438000										HNSCC(13;0.011)			39	92					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948120	119948120	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:119948120T>A	ENST00000307142.4	+	3	792	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L199Q|SYNPO2_ENST00000429713.2_Missense_Mutation_p.L199Q	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	199						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTGAGCTGCAACTGTCC	0.557000													8	38					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169620339	169620339	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:169620339G>T	ENST00000366787.3	-	22	3714	c.3465C>A	c.(3463-3465)ttC>ttA	p.F1155L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1155	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTTCTTGAGAGAAGACAAATA	0.488000													49	317					3.7052e-28	5.63074e-28	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78953339	78953339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:78953339C>T	ENST00000545128.1	+	34	5399	c.4861C>T	c.(4861-4863)Cat>Tat	p.H1621Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	786					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAGAGATGCCATCCGACTTG	0.448000													10	41					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608969	608969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:608969G>T	ENST00000264555.5	+	14	3641	c.3513G>T	c.(3511-3513)agG>agT	p.R1171S	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1170S|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1169S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1167S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1171	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGAGCACAGGGCACGGGAGC	0.706000													9	13					0.00448238	0.00463239	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249212489	249212489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:249212489A>G	ENST00000355360.4	+	3	1223	c.953A>G	c.(952-954)cAg>cGg	p.Q318R	PGBD2_ENST00000329291.5_Missense_Mutation_p.Q569R|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q566R	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	569										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACTCACAGACCAACACC	0.542000													45	143					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314679	79314679	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:79314679G>T	ENST00000305089.3	-	2	140	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	20					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCTCACCTTGGCTCAGAGACA	0.473000													7	30					6.5536e-12	8.37646e-12	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13753572	13753572	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:13753572T>G	ENST00000265104.4	-	63	10746	c.10642A>C	c.(10642-10644)Aag>Cag	p.K3548Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3548					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)					TTCATTTCCTTCCGCCAGTCA	0.393000									Kartagener syndrome				36	169					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17437036	17437036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:17437036G>T	ENST00000262545.2	+	10	1460	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	PCSK2_ENST00000536609.1_Missense_Mutation_p.G347V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G363V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	382	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCATTCTGGGACATCTGCA	0.542000													46	180					2.43468e-25	3.65676e-25	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114058212	114058212	+	Silent	SNP	G	G	T	rs148654668		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:114058212G>T	ENST00000462705.1	-	12	2468	c.1647C>A	c.(1645-1647)atC>atA	p.I549I	ZBTB20_ENST00000464560.1_Silent_p.I549I|ZBTB20_ENST00000393785.2_Silent_p.I549I|ZBTB20_ENST00000471418.1_Silent_p.I549I|ZBTB20_ENST00000357258.3_Silent_p.I549I|ZBTB20_ENST00000481632.1_Silent_p.I549I|ZBTB20_ENST00000474710.1_Silent_p.I622I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCATGTGCTTGATAAGGTAAT	0.527000													23	119					2.39556e-15	3.23884e-15	1	1	0
NLRP6	171389	broad.mit.edu	37	11	284296	284296	+	Silent	SNP	C	C	A	rs148506980		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:284296C>A	ENST00000534750.1	+	6	2470	c.2265C>A	c.(2263-2265)ccC>ccA	p.P755P	NLRP6_ENST00000312165.5_Silent_p.P756P	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	756						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCAGCCCCCGCACTGACGG	0.642000													14	53					7.93312e-07	9.07314e-07	1	1	0
BRINP1	1620	broad.mit.edu	37	9	122011312	122011312	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:122011312G>C	ENST00000265922.3	-	3	796	c.335C>G	c.(334-336)cCt>cGt	p.P112R	DBC1_ENST00000373964.2_Missense_Mutation_p.P112R	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		112	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGAGTGGTAGGTCTCCTGCC	0.567000													33	63					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579453	140579453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140579453G>A	ENST00000354757.3	+	1	106	c.106G>A	c.(106-108)Gca>Aca	p.A36T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		36	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTCTGTGGCAGAAGAAAT	0.542000													21	86					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85617191	85617191	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:85617191T>C	ENST00000322366.6	-	57	9189	c.8782A>G	c.(8782-8784)Atc>Gtc	p.I2928V	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2945V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2945	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGTCATTGATGTTGTAGATA	0.393000													27	91					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38115850	38115850	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:38115850C>T	ENST00000290399.6	+	9	1774	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	SIM2_ENST00000430056.3_Silent_p.P387P	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	387	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACCCTTACCCCCCACAGGTAA	0.493000													38	99					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425643	143425643	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:143425643G>A	ENST00000524325.1	-	4	604	c.429C>T	c.(427-429)caC>caT	p.H143H	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Silent_p.H143H|TSNARE1_ENST00000520166.1_Silent_p.H143H			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	143					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCAGCTGGTGGTGCTTGCTCA	0.662000													16	62					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805870	169805870	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:169805870T>A	ENST00000274629.4	-	4	856	c.414A>T	c.(412-414)gcA>gcT	p.A138A	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	138					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TCCCCCGAGGTGCGGAGAAGC	0.627000													15	59					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68564316	68564316	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:68564316C>T	ENST00000540432.1	-	12	1920	c.1637G>A	c.(1636-1638)tGa>tAa	p.*546*	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.*544*|GNG12-AS1_ENST00000413628.1_RNA			Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						cttgttgactcaaataccaga	0.388000													27	95					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817296	38817296	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:38817296T>A	ENST00000263372.3	+	2	493	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	129						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TTTGCGCTCCTGGGCGTGCCG	0.597000													27	121					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296125	154296125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:154296125G>A	ENST00000484864.1	+	5	586	c.550G>A	c.(550-552)Gga>Aga	p.G184R	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.G184R			Q96PS8	AQP10_HUMAN	aquaporin 10	184					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGGAACAAGGGAGTCCCTGC	0.622000													90	182					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372658	180372658	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:180372658C>A	ENST00000273654.4	-	13	1693	c.1074G>T	c.(1072-1074)ggG>ggT	p.G358G	CCDC39_ENST00000442201.2_Silent_p.G274G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	274					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTGTTATTCCCAATCTCAC	0.333000													30	33					9.80776e-20	1.41261e-19	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34148158	34148158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:34148158C>A	ENST00000346193.3	-	1	2289	c.2238G>T	c.(2236-2238)aaG>aaT	p.K746N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	746								p.K746N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCATAGCCCTTGCTTAGAA	0.413000													36	67					1.06647e-15	1.4495e-15	1	1	0
C1QTNF2	114898	broad.mit.edu	37	5	159781983	159781983	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:159781983G>A	ENST00000393975.3	-	2	174	c.171C>T	c.(169-171)ccC>ccT	p.P57P		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	12	Collagen-like.					collagen		p.P57P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCAGCACAGGGGAGGGCAC	0.662000													3	9					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670484	25670484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:25670484G>T	ENST00000281589.3	+	1	185	c.148G>T	c.(148-150)Ggc>Tgc	p.G50C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	50	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATCACCAGCGGCTCCTCCAA	0.567000													16	59					2.31682e-05	2.56245e-05	1	1	0
FOLR4	390243	broad.mit.edu	37	11	94040346	94040346	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:94040346C>A	ENST00000440961.2	+	3	387	c.343C>A	c.(343-345)Cag>Aag	p.Q115K		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	122						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCGAGTGGGCAGGGAGAGCG	0.517000													9	17					1.58986e-06	1.80496e-06	1	1	0
TP63	8626	broad.mit.edu	37	3	189607208	189607208	+	Silent	SNP	C	C	T	rs141847552	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:189607208C>T	ENST00000264731.3	+	12	1676	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Silent_p.L529L|TP63_ENST00000354600.5_Silent_p.L435L|TP63_ENST00000392461.3_Intron|TP63_ENST00000392463.2_Silent_p.L435L|TP63_ENST00000440651.2_Silent_p.L525L|TP63_ENST00000382063.4_Silent_p.L444L|TP63_ENST00000456148.1_Silent_p.L431L|TP63_ENST00000449992.1_Silent_p.L350L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	529					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCCCCACTCTCCATGCCAT	0.612000										HNSCC(45;0.13)			5	106					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777710	152777710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152777710C>T	ENST00000368768.1	-	2	295	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LCE1C_ENST00000607093.1_Missense_Mutation_p.R82H	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	82	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACCTACGGCGCCTGTGGTG	0.701000													20	106					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88705126	88705126	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:88705126C>A	ENST00000372027.4	-	3	474		c.e3+1			NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGGAGCCCTACCGTGGTGCTC	0.607000													4	19					0.00909568	0.00931282	1	1	0
FAT3	120114	broad.mit.edu	37	11	92498056	92498056	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:92498056G>A	ENST00000298047.6	+	5	4013	c.3996G>A	c.(3994-3996)gtG>gtA	p.V1332V	FAT3_ENST00000525166.1_Silent_p.V1182V|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Silent_p.V1332V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1332	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGGCAGTGGACAATGGGC	0.502000										TCGA Ovarian(4;0.039)			10	44					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184251	14184251	+	RNA	SNP	G	G	C	rs78865458	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:14184251G>C	ENST00000581935.1	+	0	940																				lung(3)	3						TTTAAATATTGATACTTTTAA	0.264000													3	29					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93995643	93995643	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:93995643A>G	ENST00000553484.1	+	10	1218	c.1064A>G	c.(1063-1065)gAg>gGg	p.E355G	UNC79_ENST00000555664.1_Missense_Mutation_p.E355G|UNC79_ENST00000393151.2_Missense_Mutation_p.E355G|UNC79_ENST00000256339.4_Missense_Mutation_p.E178G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	355						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACCACAGTGAGTGGCTGATT	0.353000													11	63					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24723870	24723870	+	Splice_Site	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:24723870C>G	ENST00000206765.6	-	13	2211	c.2088_splice	c.e13+1	p.T696_splice	TGM1_ENST00000544573.1_Splice_Site_p.T254_splice	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	696					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGCATTCACCGTGAGGGAGA	0.627000													15	69					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372220	43372220	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:43372220A>T	ENST00000244296.2	-	5	1413	c.1276T>A	c.(1276-1278)Ttt>Att	p.F426I	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000436291.2_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCCACCTAAAACCCTATTGCC	0.478000													92	318					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34620136	34620136	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:34620136T>G	ENST00000374789.3	-	19	3076	c.2751A>C	c.(2749-2751)agA>agC	p.R917S	PARD3_ENST00000374788.3_Missense_Mutation_p.R914S|PARD3_ENST00000374794.3_Missense_Mutation_p.R842S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000340077.5_Missense_Mutation_p.R914S|PARD3_ENST00000350537.4_Missense_Mutation_p.R871S|PARD3_ENST00000374790.3_Missense_Mutation_p.R857S|PARD3_ENST00000544292.1_Missense_Mutation_p.R630S|PARD3_ENST00000374776.1_Missense_Mutation_p.R871S|PARD3_ENST00000545693.1_Missense_Mutation_p.R901S|PARD3_ENST00000374773.1_Missense_Mutation_p.R884S|PARD3_ENST00000545260.1_Missense_Mutation_p.R827S|PARD3_ENST00000346874.4_Missense_Mutation_p.R917S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	917	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCCCCTGCCTCTGATTATCC	0.498000													21	72					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102738654	102738654	+	RNA	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:102738654T>C	ENST00000532855.1	-	0	867							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGGACTGAATGCCACGTATG	0.383000													4	18					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127654601	127654601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:127654601C>A	ENST00000508053.1	-	41	5538	c.4564G>T	c.(4564-4566)Gaa>Taa	p.E1522*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1522*			P35556	FBN2_HUMAN	fibrillin 2	1522	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGTCCAATTCATAACCATCA	0.378000													30	69					3.73988e-18	5.2976e-18	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14778766	14778766	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:14778766A>T	ENST00000261170.3	-	21	2469	c.2333T>A	c.(2332-2334)cTg>cAg	p.L778Q		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	778					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCCTCTACCAGATGTTCCAG	0.433000													26	135					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228101	72228101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:72228101G>A	ENST00000582365.1	+	3	251	c.185G>A	c.(184-186)gGt>gAt	p.G62D	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G105D			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	105					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGCCCGATGGTCAGAGTCTT	0.498000													64	174					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925363	4925363	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4925363G>T	ENST00000396658.4	+	14	3655	c.2952G>T	c.(2950-2952)gtG>gtT	p.V984V	UBN1_ENST00000545171.1_Silent_p.V984V|UBN1_ENST00000590769.1_Silent_p.V984V|UBN1_ENST00000262376.6_Silent_p.V984V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	984	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCAGGGAGTGGCAAAGTTGC	0.542000													63	92					3.56336e-21	5.21007e-21	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55653184	55653184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:55653184G>A	ENST00000449290.2	+	2	372	c.280G>A	c.(280-282)Ggg>Agg	p.G94R		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	94						intracellular	zinc ion binding										GCAAATATGTGGGATGCACAG	0.483000													10	36					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768499	51768499	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:51768499T>A	ENST00000371117.3	-	43	7167	c.6892A>T	c.(6892-6894)Aga>Tga	p.R2298*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R2298*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2298					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGTTGTTTCTTATTATATTT	0.408000													27	98					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104512753	104512753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:104512753G>A	ENST00000304883.2	-	4	1116	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	326						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTTAGTTGTTGATAGATTGCA	0.388000													25	77					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447564	226447564	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:226447564C>T	ENST00000272907.6	+	4	1844	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	477	Pro-rich.																ACTCGACCCCCAGACCCGTGT	0.672000													16	55					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36931963	36931963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:36931963A>G	ENST00000373103.1	-	17	3134	c.2587T>C	c.(2587-2589)Ttc>Ctc	p.F863L	CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.F863L|CSF3R_ENST00000361632.4_Missense_Mutation_p.F836L|CSF3R_ENST00000373106.1_Missense_Mutation_p.F836L|CSF3R_ENST00000418048.2_Missense_Mutation_p.F836L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000331941.5_Intron	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	836					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAGCCCTAGAAGCTCCCCAGC	0.607000													9	22					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354268	17354268	+	RNA	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:17354268G>T	ENST00000511821.1	+	0	127				FTH1P10_ENST00000401830.3_RNA																							ATCACAGTCCGGTTTCTTGAT	0.473000													45	126					2.24893e-16	3.10031e-16	1	1	0
SNRNP40	9410	broad.mit.edu	37	1	31740720	31740720	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:31740720G>A	ENST00000263694.4	-	8	936	c.918C>T	c.(916-918)gaC>gaT	p.D306D	SNRNP40_ENST00000446633.2_Silent_p.D306D|SNRNP40_ENST00000373720.3_Silent_p.D76D|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	306						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ATCCTTACCTGTCGGCTGAGC	0.498000													24	88					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885106	88885106	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:88885106C>A	ENST00000319675.3	-	1	1190	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	365								p.S365N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGGCCACACTGGGAATGTC	0.592000													32	64					3.57733e-08	4.22925e-08	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5318252	5318252	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:5318252G>T	ENST00000274181.7	+	22	3555	c.3417G>T	c.(3415-3417)acG>acT	p.T1139T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1139	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACAGTGCACGGCCAGCTGTG	0.657000													5	15					0.000602214	0.000631671	1	1	0
APBA1	320	broad.mit.edu	37	9	72131980	72131980	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:72131980G>A	ENST00000265381.4	-	2	369	c.147C>T	c.(145-147)ggC>ggT	p.G49G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	49					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGGTGGCGGCCCACATAGT	0.716000													4	15					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114499398	114499398	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:114499398G>T	ENST00000513154.1	-	2	405	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.L39M|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	39						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGGGTAAACAGCTCCTTGCAT	0.408000													19	72					4.96729e-08	5.84565e-08	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26589271	26589271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:26589271C>T	ENST00000381340.3	-	48	7068	c.6652G>A	c.(6652-6654)Gca>Aca	p.A2218T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2218					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGAACAGTGCAGGGTTATCT	0.408000													6	30					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	424323	424323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:424323G>C	ENST00000256509.2	+	18	2787	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q699H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	699	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGCCTAGCCAGCCGTCAGACC	0.433000													25	51					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117607388	117607388	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:117607388G>T	ENST00000355044.3	+	28	4030	c.3903_splice	c.e28-1	p.G1302_splice	ATRNL1_ENST00000303745.7_Splice_Site_p.G95_splice|ATRNL1_ENST00000423111.2_Splice_Site_p.G353_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1302						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTTTTCAGGGGGCACCCAA	0.438000													6	28					3.59834e-05	3.9459e-05	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176809324	176809324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:176809324G>A	ENST00000367662.3	+	22	6382	c.5218G>A	c.(5218-5220)Ggt>Agt	p.G1740S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1740					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAGCAGATGGTTGGTGTGA	0.512000													38	164					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640844	44640844	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:44640844A>T	ENST00000372330.3	+	7	1085	c.1066A>T	c.(1066-1068)Aag>Tag	p.K356*		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	356	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTCCTGGGTAAGGAGTACTC	0.627000													32	141					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876140	196876140	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:196876140G>T	ENST00000367416.2	+	4	723	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGGTGAAGATGGCTGGTCCCA	0.343000													13	47					4.3838e-07	5.05119e-07	1	1	0
NACA2	342538	broad.mit.edu	37	17	59668082	59668082	+	Missense_Mutation	SNP	G	G	T	rs76240935		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:59668082G>T	ENST00000521764.1	-	1	481	c.460C>A	c.(460-462)Caa>Aaa	p.Q154K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	154					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)					GTGTTTTCTTGAATGTTTCCG	0.433000													71	284					5.80444e-35	8.94416e-35	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138169329	138169329	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:138169329G>T	ENST00000409968.1	+	14	3024	c.2846G>T	c.(2845-2847)gGa>gTa	p.G949V	THSD7B_ENST00000272643.3_Missense_Mutation_p.G949V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G918V|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCACCGAGGACTGCGGGTA	0.488000													31	117					2.47511e-08	2.94874e-08	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65209721	65209721	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:65209721C>G	ENST00000247226.7	+	15	3100	c.2792C>G	c.(2791-2793)tCt>tGt	p.S931C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S492C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S520C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S987C|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	987					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGGTGCTGTCTCTATTTGAC	0.602000													39	149					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4941826	4941826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:4941826C>A	ENST00000345988.2	-	16	2043	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	PPL_ENST00000590782.2_Missense_Mutation_p.G650W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	652					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTCCTGCCCCTTGCTGTCC	0.602000													55	136					2.01807e-28	3.07288e-28	1	1	0
GGCX	2677	broad.mit.edu	37	2	85782667	85782667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:85782667T>C	ENST00000233838.3	-	6	745	c.665A>G	c.(664-666)gAc>gGc	p.D222G	GGCX_ENST00000430215.3_Missense_Mutation_p.D165G	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	222					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTCAACCCAGTCTGCATCCAG	0.443000													11	39					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998283	27998283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:27998283G>T	ENST00000441525.1	-	1	1283	c.1169C>A	c.(1168-1170)cCa>cAa	p.P390Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	390										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATGTTTGTTGGGAAATCACA	0.413000													34	38					1.26612e-14	1.70286e-14	1	1	0
ZSCAN25	221785	broad.mit.edu	37	7	99226830	99226830	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:99226830A>T	ENST00000394152.2	+	8	1149	c.822A>T	c.(820-822)gaA>gaT	p.E274D	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E274D|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E202D	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GGAGCAAGGAAAAGGAGGCAA	0.557000													24	109					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:139286432C>A	ENST00000298532.2	-	9	1305	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	313	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662000													15	91					0.000219431	0.000234953	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127013772	127013772	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:127013772C>G	ENST00000393313.1	-	5	2209	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	ZNF800_ENST00000393312.1_Missense_Mutation_p.V540L|ZNF800_ENST00000265827.3_Missense_Mutation_p.V540L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V540M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTATGAACCACAGTTATATGT	0.348000													39	127					0	0	1	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90198986	90198986	+	RNA	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:90198986G>T	ENST00000390276.2	+	0	328																											GGGCGAGTCAGGGTATTAGCA	0.517000													40	151					9.39024e-22	1.38081e-21	1	1	0
CCDC54	84692	broad.mit.edu	37	3	107097161	107097161	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:107097161C>A	ENST00000261058.1	+	1	974	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	243										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TTACATTTACCCAGACTTCAG	0.363000													24	174					7.87624e-14	1.04475e-13	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100173021	100173021	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:100173021G>T	ENST00000554176.1	+	1	688	c.22G>T	c.(22-24)Gct>Tct	p.A8S	CYP46A1_ENST00000261835.3_Missense_Mutation_p.A161S|CYP46A1_ENST00000423126.2_Missense_Mutation_p.A64S			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	161					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAACGAGAAGGCTGAGCAGCT	0.552000													28	67					1.04121e-07	1.21975e-07	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47918501	47918501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:47918501C>T	ENST00000318711.7	+	5	593	c.410C>T	c.(409-411)tCg>tTg	p.S137L	DIP2A_ENST00000417564.2_Missense_Mutation_p.S137L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S137L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S137L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S137L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S73L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S137L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	137					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACAGACACGTCGTCTGCCTCA	0.592000													48	203					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964667	94964667	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:94964667G>T	ENST00000341228.2	-	3	863	c.68C>A	c.(67-69)cCg>cAg	p.P23Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P23Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	23					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGAGAAGCTCGGCTTTAGAAG	0.483000													33	116					6.04164e-23	8.9523e-23	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23234652	23234652	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:23234652C>T	ENST00000400191.3	+	12	2361	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	EPHB2_ENST00000374627.1_Silent_p.T776T|EPHB2_ENST00000374632.3_Silent_p.T782T|EPHB2_ENST00000374630.3_Silent_p.T781T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	781	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCACCTACACCAGTGCCCTGG	0.567000													4	64					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052514	70052514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:70052514A>T	ENST00000301838.4	+	2	859	c.562A>T	c.(562-564)Aac>Tac	p.N188Y	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	188					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACCTCCAGAACAGGAGTGG	0.617000													12	78					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508523	43508523	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:43508523C>G	ENST00000300215.3	-	2	686	c.229G>C	c.(229-231)Gct>Cct	p.A77P	EPB42_ENST00000540029.1_Missense_Mutation_p.A47P|EPB42_ENST00000441366.2_Missense_Mutation_p.A47P			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	47					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGACTGGAGCGCGGAAGTAC	0.602000													15	52					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142110	29142110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:29142110C>T	ENST00000377167.2	+	1	800	c.698C>T	c.(697-699)aCt>aTt	p.T233I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CAATCAACCACTGGGCTTCAG	0.458000													66	81					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287818	202287818	+	Missense_Mutation	SNP	C	C	T	rs145765655		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:202287818C>T	ENST00000367278.3	+	18	2476	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	LGR6_ENST00000439764.2_Missense_Mutation_p.S657F|LGR6_ENST00000255432.7_Missense_Mutation_p.S744F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	796						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGCTTTGCCTCCATGCTGGGC	0.647000													48	119					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644077	20644077	+	RNA	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:20644077T>G	ENST00000428453.1	-	0	3384																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAACTGGGCCTAGTGCAGACC	0.557000													13	36					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897975	175897975	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:175897975T>C	ENST00000359240.3	+	5	1969	c.1299T>C	c.(1297-1299)gaT>gaC	p.D433D	ADAM29_ENST00000514159.1_Silent_p.D433D|ADAM29_ENST00000404450.4_Silent_p.D433D|ADAM29_ENST00000445694.1_Silent_p.D433D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	433	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCTGACTGATGGTTCTACTT	0.443000													29	88					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50733732	50733732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:50733732C>T	ENST00000404971.1	-	14	3857	c.2518G>A	c.(2518-2520)Gct>Act	p.A840T	NRXN1_ENST00000405472.3_Missense_Mutation_p.A792T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A792T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A800T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A800T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A800T|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	800	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATAGCCAGCAAAAAGAGTC	0.448000													9	35					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767242	23767242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:23767242C>A	ENST00000300113.2	+	3	638	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	72	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AGCTTCTTCCCCGATGGGTGA	0.587000													36	71					3.76114e-14	5.01485e-14	1	1	0
SDK1	221935	broad.mit.edu	37	7	3658737	3658737	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:3658737G>T	ENST00000404826.2	+	2	463	c.324G>T	c.(322-324)acG>acT	p.T108T	SDK1_ENST00000389531.3_Silent_p.T108T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	108	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTTTAAAACGGAGCCAGGCC	0.438000													7	19					1.6384e-10	2.04999e-10	1	1	0
KLRC3	3823	broad.mit.edu	37	12	10570964	10570964	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:10570964A>T	ENST00000396439.2	-	4	509	c.465T>A	c.(463-465)tgT>tgA	p.C155*	NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.C155*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CATTATCTATACAAAGCAGAC	0.323000													48	183					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51285690	51285690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:51285690G>A	ENST00000261842.5	+	17	2320	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	AP4E1_ENST00000560508.1_Missense_Mutation_p.M663I	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	738					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGAGTATAATGGAGAATGTAG	0.393000													17	81					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20744406	20744406	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:20744406C>A	ENST00000404938.2	+	20	3049	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	ABCB5_ENST00000258738.6_Silent_p.A354A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	354	ABC transporter 2.				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						CAATATTAGCCATAGATATAG	0.353000													13	49					4.36969e-10	5.39744e-10	1	1	0
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	C	A	rs142063145		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:19209672C>A	ENST00000375341.3	-	7	881	c.624G>T	c.(622-624)tcG>tcT	p.S208S	ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000538309.1_Silent_p.S148S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTTAAAGGGCGAGATGGCCG	0.667000													22	73					5.26018e-13	6.87116e-13	1	1	0
RSAD2	91543	broad.mit.edu	37	2	7023518	7023518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:7023518C>A	ENST00000382040.3	+	2	499	c.363C>A	c.(361-363)aaC>aaA	p.N121K	RSAD2_ENST00000541728.1_Missense_Mutation_p.N14K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	121					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAAGATCAACTTTTCAGGTG	0.413000													14	68					2.32078e-09	2.83488e-09	1	1	0
MROH7	374977	broad.mit.edu	37	1	55118986	55118986	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:55118986G>A	ENST00000414150.2	+	3	665	c.387G>A	c.(385-387)ctG>ctA	p.L129L	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Silent_p.L129L|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.L129L|MROH7_ENST00000421030.2_Silent_p.L129L|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		ACCCCATtctgagccctagct	0.532000													43	150					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492688	56492688	+	Splice_Site	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:56492688G>A	ENST00000267101.3	+	23	3278	c.2839_splice	c.e23+1	p.K946_splice	ERBB3_ENST00000450146.2_Splice_Site_p.K303_splice|ERBB3_ENST00000415288.2_Splice_Site_p.K887_splice|ERBB3_ENST00000553131.1_Splice_Site_p.K187_splice|ERBB3_ENST00000549832.1_Splice_Site_p.K66_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	946	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGGTCAAGTGTGAGTTAC	0.453000													31	62					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411576	57411576	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:57411576C>G	ENST00000543257.1	-	8	1433	c.867G>C	c.(865-867)ggG>ggC	p.G289G	C8B_ENST00000371237.4_Silent_p.G341G|C8B_ENST00000535057.1_Silent_p.G279G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	341	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGTGGGTCCCAAAATCAC	0.517000													22	66					0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179008	191179008	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:191179008C>A	ENST00000518817.1	+	1	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	19	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCAGCTCAGCCAGGATGAGT	0.542000													21	136					3.51602e-12	4.51641e-12	1	1	0
FLCN	201163	broad.mit.edu	37	17	17127250	17127250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:17127250C>T	ENST00000285071.4	-	6	1058	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.G202S	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	202					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCGCCTTGCCCTGGAGCTCA	0.612000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				9	47					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551240	125551240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:125551240C>T	ENST00000373680.2	+	1	91	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCCGGGCCGCGGTTGCCCCT	0.597000													27	112					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256889	158256889	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:158256889T>C	ENST00000296526.7	+	10	1658	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	GRIA2_ENST00000507898.1_Missense_Mutation_p.Y398H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Y398H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Y445H|GRIA2_ENST00000449365.1_Missense_Mutation_p.Y398H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	445					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTATGAGGGCTACTGTGTTGA	0.423000													8	61					0	0	1	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004998	153004998	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:153004998C>A	ENST00000307098.4	+	2	242	c.177C>A	c.(175-177)ccC>ccA	p.P59P	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	59	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCCCAAGGTTCCAG	0.617000													34	195					4.11147e-13	5.38889e-13	1	1	0
GRID1	2894	broad.mit.edu	37	10	87362341	87362341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:87362341C>T	ENST00000327946.7	-	16	2804	c.2719G>A	c.(2719-2721)Ggc>Agc	p.G907S	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.G478S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	907						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGAGCCAGGCCCCCCATCTCC	0.617000										Multiple Myeloma(13;0.14)			6	43					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776769	150776769	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:150776769T>G	ENST00000540185.1	-	2	825	c.221A>C	c.(220-222)aAg>aCg	p.K74T	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.K108T|FASTK_ENST00000482571.1_Missense_Mutation_p.K108T			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	108					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCGCGCACCTTGCTGGGGTT	0.687000													6	19					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839167	44839167	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:44839167G>C	ENST00000372262.3	-	6	1465	c.1065C>G	c.(1063-1065)acC>acG	p.T355T	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.T355T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	355	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCAGGATCACGGTGTGCACGG	0.682000													10	36					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156763500	156763500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:156763500G>C	ENST00000537611.2	-	6	914	c.868C>G	c.(868-870)Cat>Gat	p.H290D		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	290						integral to membrane|plasma membrane											TATTCTTGATGAACTGTCTTA	0.388000													20	58					0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575218	153575218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:153575218C>T	ENST00000326446.5	+	1	791	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	27						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCGGCCATCGTATTCCTCC	0.677000													13	64					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112451279	112451279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:112451279G>A	ENST00000261735.3	+	1	160	c.10G>A	c.(10-12)Gct>Act	p.A4T	ERP29_ENST00000455836.1_Missense_Mutation_p.A4T	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	4					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TATGGCTGCCGCTGTGCCCCG	0.682000													15	74					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54394954	54394954	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:54394954A>G	ENST00000263431.3	+	6	838	c.556A>G	c.(556-558)Atg>Gtg	p.M186V	PRKCG_ENST00000542049.1_Missense_Mutation_p.M73V|PRKCG_ENST00000540413.1_Missense_Mutation_p.M186V|PRKCG_ENST00000536044.1_Missense_Mutation_p.M186V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	186	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTAATTCCTATGGACCCCAA	0.557000													30	120					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285990	99285990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:99285990C>A	ENST00000375241.1	-	10	1415	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	CDC14B_ENST00000463569.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375236.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375240.3_Missense_Mutation_p.G322C|CDC14B_ENST00000375242.3_Missense_Mutation_p.G285C|CDC14B_ENST00000265659.2_Missense_Mutation_p.G322C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	322	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATCAGAGTGCCCGTGCGACCA	0.498000													22	55					1.50039e-11	1.91139e-11	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142718630	142718630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:142718630C>T	ENST00000381779.4	-	2	520	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E99K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E99K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	99						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTCCCTCAATGTTCTGC	0.373000													51	78					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979957	40979957	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:40979957C>A	ENST00000313164.9	+	17	2655	c.2296C>A	c.(2296-2298)Cct>Act	p.P766T	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	766	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTACTCTGCCTGCCTCAGC	0.468000													6	41					2.7689e-08	3.2886e-08	1	1	0
RBM46	166863	broad.mit.edu	37	4	155719122	155719122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:155719122C>G	ENST00000510397.1	+	3	490	c.311C>G	c.(310-312)gCt>gGt	p.A104G	RBM46_ENST00000281722.3_Missense_Mutation_p.A104G|RBM46_ENST00000514866.1_Missense_Mutation_p.A104G	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	104	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CGAGGTTATGCTTTTGTGATG	0.348000													28	100					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14110158	14110158	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:14110158C>A	ENST00000261643.3	+	7	1037	c.960C>A	c.(958-960)tcC>tcA	p.S320S	COX10_ENST00000537334.1_Silent_p.S103S|COX10_ENST00000536205.1_Silent_p.S128S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	320					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCCTCTACTCCTGGCAGTTTC	0.587000													25	103					5.45024e-15	7.35592e-15	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27434126	27434126	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:27434126C>G	ENST00000527372.1	-	20	3593	c.3413G>C	c.(3412-3414)cGt>cCt	p.R1138P	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1138P|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1138P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1138P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1138	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GATGTAGTTACGCCCGTGTTT	0.602000													17	77					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604402	140604402	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140604402C>G	ENST00000239449.4	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S289C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		442	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGCTCTCTGACGTCAAT	0.587000													57	193					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1540343	1540343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:1540343C>T	ENST00000263071.4	-	9	1427	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SCARF1_ENST00000571272.1_Missense_Mutation_p.G460R|SCARF1_ENST00000348987.3_Missense_Mutation_p.G374R	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	460					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACGGTAGCTCCATCTCTCGCT	0.632000													21	74					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196771688	196771688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:196771688T>C	ENST00000312428.6	-	26	4250	c.4150A>G	c.(4150-4152)Aga>Gga	p.R1384G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1384	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCAATTCTGTTAAACTCA	0.348000													18	64					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419525	27419525	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:27419525T>C	ENST00000211936.6	-	6	2097	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K605E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAATTCTCTTATGCTGTGTA	0.423000													78	78					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121563410	121563410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:121563410T>A	ENST00000275159.6	-	18	2093	c.2094A>T	c.(2092-2094)caA>caT	p.Q698H	TBC1D32_ENST00000398212.2_Missense_Mutation_p.Q698H					TBC1 domain family, member 32																		CACCTGTTCTTTGAAGAAGTA	0.343000													24	70					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540660	56540660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:56540660G>A	ENST00000323777.3	-	4	1134	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATTGAAGGATTCTGGGA	0.358000													23	96					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667522	133667522	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:133667522C>A	ENST00000310926.4	-	8	1236	c.963G>T	c.(961-963)agG>agT	p.R321S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R245S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	321					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.R321R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TCATCAGGAGCCTCAGAAAGA	0.582000													34	165					2.68265e-12	3.45292e-12	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106849541	106849541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:106849541C>T	ENST00000369701.3	+	6	1264	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	346						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGTCGGTGGCCGGATTGGAT	0.577000													11	30					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175436	143175436	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:143175436A>G	ENST00000408916.1	+	1	471	c.471A>G	c.(469-471)caA>caG	p.Q157Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	157					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGTATATCAAGAATTTTTAA	0.438000													20	55					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921267	247921267	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:247921267G>C	ENST00000408896.2	-	1	715	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAAGCCACAGTCCAGCCACT	0.488000													13	36					0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50059064	50059064	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:50059064C>A	ENST00000391853.3	-	10	1001	c.850G>T	c.(850-852)Gcg>Tcg	p.A284S	NOSIP_ENST00000596358.1_Missense_Mutation_p.A284S|NOSIP_ENST00000339093.3_Missense_Mutation_p.A287S	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	284					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCGGAGCCCGCGAAGCCGGTA	0.647000													7	40					2.7689e-08	3.2886e-08	1	1	0
XIST	7503	broad.mit.edu	37	X	73065586	73065586	+	RNA	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:73065586T>A	ENST00000429829.1	-	0	7002					NR_001564.2																						TGCACCTTGATTGTCCAAATG	0.507000													12	17					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848149	166848149	+	Missense_Mutation	SNP	C	C	T	rs112244937		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:166848149C>T	ENST00000423058.2	-	26	5653	c.5636G>A	c.(5635-5637)aGt>aAt	p.S1879N	SCN1A_ENST00000409050.1_Missense_Mutation_p.S1851N|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1868N|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1879N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1879						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCTCTCCACTCTCTCCTAG	0.453000													28	94					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124370	65124370	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:65124370G>T	ENST00000309880.5	+	2	1298	c.1091G>T	c.(1090-1092)gGg>gTg	p.G364V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	364					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ATTCAAGAAGGGCTGGCTCCC	0.647000													24	114					1.10923e-09	1.36141e-09	1	1	0
SLC2A14	144195	broad.mit.edu	37	12	7982600	7982600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:7982600C>A	ENST00000543909.1	-	10	1103	c.344G>T	c.(343-345)cGc>cTc	p.R115L	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115L|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92L|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130L			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458000													20	38					1.96292e-10	2.4481e-10	1	1	0
TANGO6	79613	broad.mit.edu	37	16	69056738	69056738	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:69056738G>A	ENST00000261778.1	+	16	2862	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TAGGAGACATGGTCTCAAAGT	0.428000													10	11					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141420826	141420826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:141420826C>T	ENST00000397541.2	+	5	1256	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	284	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGAAGATGACCACATGATCAT	0.408000													31	145					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29818743	29818743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:29818743C>T	ENST00000375398.2	-	14	2586	c.2137G>A	c.(2137-2139)Gtt>Att	p.V713I	SVIL_ENST00000355867.4_Missense_Mutation_p.V713I|SVIL_ENST00000375400.3_Missense_Mutation_p.V319I			O95425	SVIL_HUMAN	supervillin	713					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGCTTTGGAACATTTTGTTCA	0.493000													13	40					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6851075	6851075	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:6851075A>C	ENST00000419673.2	+	3	326	c.109A>C	c.(109-111)Acc>Ccc	p.T37P	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T19P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T144P|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T37P|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.T196P|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T196P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T37P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T37P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GCTGGATGGCACCAAGGAAGA	0.453000													49	59					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51926824	51926824	+	Splice_Site	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:51926824T>A	ENST00000371733.3	-	8	598		c.e8-2		EPS15_ENST00000371730.2_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCCCAAACCTTAAAAAGAGA	0.343000			T	MLL	ALL								19	63					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6166026	6166026	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:6166026C>T	ENST00000588304.1	+	7	1034	c.588_splice	c.e7+1	p.N196_splice	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Splice_Site_p.N246_splice|ACSBG2_ENST00000588485.1_Splice_Site_p.N59_splice|ACSBG2_ENST00000252669.5_Splice_Site_p.N246_splice|ACSBG2_ENST00000591403.1_Splice_Site_p.N246_splice			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	246					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	p.N246N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATGACAACGTACGCCAAA	0.552000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913158	131913158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:131913158C>A	ENST00000359827.3	-	6	2637	c.1675G>T	c.(1675-1677)Gtc>Ttc	p.V559F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V559F			Q9HCM2	PLXA4_HUMAN	plexin A4	559	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCAGCCGGACACACTGCTTC	0.592000													9	64					7.48243e-07	8.58311e-07	1	1	0
WDR17	116966	broad.mit.edu	37	4	177094455	177094455	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:177094455A>G	ENST00000393643.2	+	26	3579	c.3327A>G	c.(3325-3327)atA>atG	p.I1109M	WDR17_ENST00000280190.4_Missense_Mutation_p.I1133M|WDR17_ENST00000508596.1_Missense_Mutation_p.I1094M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1108M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1133										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGATACCATATACCCTGTTC	0.328000													11	35					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897665	130897665	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:130897665T>A	ENST00000392984.3	-	5	1930	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q228L|CCDC74B_ENST00000310463.6_Missense_Mutation_p.Q294L			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	294										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTGAGGTGCTGCAGCTGAAA	0.692000													7	56					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132737	126132737	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:126132737C>T	ENST00000373631.3	+	7	1406	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	CRB2_ENST00000359999.3_Silent_p.L469L|CRB2_ENST00000373629.2_Silent_p.L137L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	469	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGCACCACACTGCCCGCTGG	0.607000													20	59					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51800403	51800403	+	Missense_Mutation	SNP	G	G	T	rs142974796	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:51800403G>T	ENST00000579534.1	+	3	492	c.349G>T	c.(349-351)Gta>Tta	p.V117L	POLI_ENST00000217800.5_Missense_Mutation_p.V14L|POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	117	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCCACAGTTGGTATTAGTTAA	0.348000								DNA polymerases (catalytic subunits)					9	21					0.000274275	0.000291653	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20833091	20833091	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:20833091G>C	ENST00000359062.3	+	16	3352	c.3312G>C	c.(3310-3312)ctG>ctC	p.L1104L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1104					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)	ATCAATCCCTGGACCAGACCC	0.473000													27	125					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48149384	48149384	+	Silent	SNP	G	G	A	rs145270865		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:48149384G>A	ENST00000418331.2	+	7	1498	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	PTPRJ_ENST00000440289.2_Silent_p.L382L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	382	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCACAAGCCTGACCCTGATCT	0.478000													31	90					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811931	100811931	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:100811931C>A	ENST00000323346.5	+	11	1735	c.1422C>A	c.(1420-1422)caC>caA	p.H474Q	SLC17A8_ENST00000392989.3_Missense_Mutation_p.H424Q|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	474					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGCACAAGGTAAAGG	0.498000													30	116					3.1745e-13	4.16788e-13	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179605490	179605490	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:179605490A>T	ENST00000467460.1	-	4	611	c.281T>A	c.(280-282)aTa>aAa	p.I94K	PEX5L_ENST00000465751.1_Missense_Mutation_p.I70K|PEX5L_ENST00000476138.1_Missense_Mutation_p.I51K|PEX5L_ENST00000263962.8_Missense_Mutation_p.I92K|PEX5L_ENST00000485199.1_Missense_Mutation_p.I59K|PEX5L_ENST00000472994.1_Missense_Mutation_p.I35K|PEX5L_ENST00000464614.1_Missense_Mutation_p.I51K|PEX5L_ENST00000392649.3_Missense_Mutation_p.I51K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	94					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGCCTTGCTATTGCTTCCGA	0.403000													62	239					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46890260	46890260	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:46890260G>A	ENST00000378623.1	-	33	5084	c.4842C>T	c.(4840-4842)acC>acT	p.T1614T	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1614					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACAGGCATTGGTCCCTGGAG	0.512000													18	39					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7906572	7906572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr18:7906572C>A	ENST00000332175.8	+	4	1575	c.538C>A	c.(538-540)Cat>Aat	p.H180N	PTPRM_ENST00000580170.1_Missense_Mutation_p.H180N|PTPRM_ENST00000400053.4_Missense_Mutation_p.H118N|PTPRM_ENST00000400060.4_Missense_Mutation_p.H180N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	180	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGTGTTAGGACATCCATGTAG	0.358000													50	64					6.7651e-33	1.03624e-32	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51892673	51892673	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:51892673G>A	ENST00000371117.3	-	31	3857	c.3582C>T	c.(3580-3582)taC>taT	p.Y1194Y	PKHD1_ENST00000340994.4_Silent_p.Y1194Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1194					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTGTGAGGTACTGGATGT	0.438000													17	41					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47322160	47322160	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:47322160G>T	ENST00000295454.3	+	5	770	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GABRB1_ENST00000538619.1_Missense_Mutation_p.A90S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	160					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AACCACAGCTGCATGTATGAT	0.418000													15	61					1.15088e-07	1.34211e-07	1	1	0
CPN1	1369	broad.mit.edu	37	10	101841328	101841328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:101841328C>A	ENST00000370418.3	-	1	306	c.55G>T	c.(55-57)Gcc>Tcc	p.A19S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	19					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCACCGGGGCAACCAACTTG	0.562000													9	53					2.17888e-05	2.4168e-05	1	1	0
BRAF	673	broad.mit.edu	37	7	140449176	140449176	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:140449176A>T	ENST00000288602.6	-	16	1963	c.1903T>A	c.(1903-1905)Ttt>Att	p.F635I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	635	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCTGACTGAAAGCTGTATGGA	0.328000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	77					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50117120	50117120	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:50117120A>T	ENST00000281631.5	+	16	1900	c.1742A>T	c.(1741-1743)tAt>tTt	p.Y581F	PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.Y560F|PARP8_ENST00000505697.2_Missense_Mutation_p.Y581F|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514342.2_Intron	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	581						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCGAGCCATATCCTTCTGTG	0.393000													17	77					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640703	32640703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:32640703G>T	ENST00000421745.2	+	10	2478	c.2344G>T	c.(2344-2346)Ggt>Tgt	p.G782C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	782					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGACGGAAAGGTGAGCTGGA	0.378000													20	97					1.55795e-14	2.08808e-14	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710666	140710666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140710666G>A	ENST00000517417.1	+	1	415	c.415G>A	c.(415-417)Gag>Aag	p.E139K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E139K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAACTGGAGTTTAAAAT	0.378000													66	212					0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7529792	7529792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:7529792C>G	ENST00000269298.5	-	6	705	c.486G>C	c.(484-486)gaG>gaC	p.E162D	SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.E128D|SHBG_ENST00000572182.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	162	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTCTCGTTGCCTCTCCTTGAA	0.537000													31	104					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990323	89990323	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:89990323A>G	ENST00000405460.2	+	33	7846	c.7750A>G	c.(7750-7752)Aat>Gat	p.N2584D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2584			N -> S (in dbSNP:rs1878878).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGATCTACAATATTAGTCC	0.438000													61	252					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874495	24874495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:24874495C>A	ENST00000396432.2	-	26	5209	c.4723G>T	c.(4723-4725)Gag>Tag	p.E1575*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1574					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						GCCAAAAACTCGCTATGTTTC	0.517000													29	107					2.4375e-19	3.49767e-19	1	1	0
DUS1L	64118	broad.mit.edu	37	17	80021368	80021368	+	Missense_Mutation	SNP	C	C	G	rs76779621	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:80021368C>G	ENST00000354321.7	-	3	858	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	DUS1L_ENST00000306796.5_Missense_Mutation_p.E125Q			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	125					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTCCCACTCGTCCTGCAGA	0.602000													40	185					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994820	39994820	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:39994820C>T	ENST00000205143.4	+	5	769	c.762C>T	c.(760-762)acC>acT	p.T254T	DLL3_ENST00000356433.5_Silent_p.T254T	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	254					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCACCAGCAGCTGCC	0.667000													17	86					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228336071	228336071	+	Splice_Site	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:228336071G>T	ENST00000366718.1	+	7	902		c.e7-1		GUK1_ENST00000470040.1_Splice_Site|GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000366726.1_Splice_Site|GUK1_ENST00000366722.1_Splice_Site|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000312726.4_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCCACCCACAGGCAAGGAGCC	0.657000													15	24					1.3612e-06	1.55221e-06	1	1	0
TECRL	253017	broad.mit.edu	37	4	65188508	65188508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:65188508C>G	ENST00000381210.3	-	4	444	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	TECRL_ENST00000507440.1_Missense_Mutation_p.G112R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	112					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAAAAAGGCCCGCCtaaaata	0.323000													6	29					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25047240	25047240	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:25047240G>A	ENST00000261192.7	-	3	774	c.248C>T	c.(247-249)cCt>cTt	p.P83L	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.P82L|BCAT1_ENST00000539282.1_Missense_Mutation_p.P95L|BCAT1_ENST00000539780.1_Missense_Mutation_p.P83L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P59L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	83					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGATGAGCCAGGGTGCAATGA	0.478000													10	33					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054204	95054204	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:95054204A>T	ENST00000329597.7	+	3	715	c.505A>T	c.(505-507)Atg>Ttg	p.M169L	SERPINA5_ENST00000553780.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.M169L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	169					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGGGGCCATGAAGCAGAT	0.498000													31	92					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27244340	27244340	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:27244340C>A	ENST00000577226.1	-	7	1443	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	PHF12_ENST00000332830.4_Missense_Mutation_p.R366L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.R366L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	366	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GAGCACACGCCGGTTAGGGGG	0.527000													18	100					4.63292e-17	6.47938e-17	1	1	0
KIRREL3	84623	broad.mit.edu	37	11	126314917	126314917	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:126314917G>T	ENST00000525144.2	-	10	1458	c.1209C>A	c.(1207-1209)ccC>ccA	p.P403P	KIRREL3_ENST00000529097.2_Silent_p.P403P|KIRREL3_ENST00000525704.2_Silent_p.P403P	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	403	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCCCACACGGGGCACCACAG	0.632000													12	58					4.3838e-07	5.05119e-07	1	1	0
ZNF585B	92285	broad.mit.edu	37	19	37678135	37678135	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:37678135A>T	ENST00000532828.2	-	5	555	c.304T>A	c.(304-306)Tgg>Agg	p.W102R	ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47R|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102R|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGGTCCCATAATTTCTCT	0.333000													22	90					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270912	73270912	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:73270912T>A	ENST00000224721.6	+	5	377	c.372T>A	c.(370-372)gaT>gaA	p.D124E	CDH23_ENST00000299366.7_Missense_Mutation_p.D169E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.D169E|CDH23_ENST00000398809.4_Missense_Mutation_p.D124E|CDH23_ENST00000398842.3_Missense_Mutation_p.D124E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	124	Cadherin 1.		D -> G (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGTTGGGGATGTGAATGACA	0.582000													21	102					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809661	5809661	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5809661C>A	ENST00000317078.1	-	1	385	c.386G>T	c.(385-387)tGc>tTc	p.C129F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGAGGGAAGCAGATGGCCAC	0.517000													22	108					0.000295444	0.000313731	1	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12943024	12943024	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:12943024G>A	ENST00000235349.5	-	2	262	c.192C>T	c.(190-192)cgC>cgT	p.R64R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	64										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGAGGCGGCGGAAGGGCC	0.597000													41	119					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007653	161007653	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:161007653G>C	ENST00000447678.1	-	26	4077	c.3957C>G	c.(3955-3957)acC>acG	p.T1319T	LPA_ENST00000316300.5_Silent_p.T1319T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3827	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTAGTTCCTGGTCAGGCCAC	0.478000													31	50					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14312814	14312814	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:14312814A>C	ENST00000571589.1	+	8	824	c.652A>C	c.(652-654)Agt>Cgt	p.S218R	MKL2_ENST00000572567.1_Missense_Mutation_p.S207R|MKL2_ENST00000573051.1_Missense_Mutation_p.S167R|MKL2_ENST00000318282.5_Missense_Mutation_p.S218R|MKL2_ENST00000574045.1_Missense_Mutation_p.S218R|MKL2_ENST00000341243.5_Missense_Mutation_p.S207R	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	207					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCAAAAGTTAGTGAATCGCC	0.463000													14	75					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379699	88379699	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:88379699G>C	ENST00000298699.2	-	11	1234	c.1054C>G	c.(1054-1056)Cgc>Ggc	p.R352G	C12orf50_ENST00000550553.1_Missense_Mutation_p.R313G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	352								p.R352S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGCCTGCTGCGGGAAGGTGCA	0.483000													34	147					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178680	24178680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:24178680C>A	ENST00000378454.3	-	9	1505	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	DCDC2_ENST00000378450.3_Missense_Mutation_p.A155S	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	402					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTACACGAGCAGGGCGTGCC	0.517000													53	149					2.43468e-25	3.65676e-25	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774565	140774565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140774565G>T	ENST00000398604.2	+	1	2185	c.2185G>T	c.(2185-2187)Ggt>Tgt	p.G729C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGATTCCGGTGGCAGATT	0.602000													11	47					0.000673444	0.00070447	1	1	0
ADCY2	108	broad.mit.edu	37	5	7626343	7626343	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:7626343A>T	ENST00000338316.4	+	4	723	c.634A>T	c.(634-636)Atg>Ttg	p.M212L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	212					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TAAGCACCTCATGGAACTCGC	0.453000													32	136					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216182916	216182916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:216182916G>T	ENST00000435675.1	+	2	571	c.180G>T	c.(178-180)ttG>ttT	p.L60F	ATIC_ENST00000236959.9_Missense_Mutation_p.L61F|ATIC_ENST00000540518.1_Missense_Mutation_p.L2F			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTGAAATGTTGGGGGGACGTG	0.393000			T	ALK	ALCL								28	141					1.88708e-17	2.64878e-17	1	1	0
CCDC170	80129	broad.mit.edu	37	6	151939269	151939269	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:151939269A>G	ENST00000367290.5	+	11	2245	c.2156A>G	c.(2155-2157)cAg>cGg	p.Q719R	CCDC170_ENST00000239374.7_Missense_Mutation_p.Q712R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	712																	GGCCATTTACAGCTTCTTCAT	0.438000													14	62					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542698	21542698	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:21542698C>A	ENST00000298694.4	+	3	936	c.809C>A	c.(808-810)aCg>aAg	p.T270K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.T270K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	270					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGAGTCCGGACGGTACCCACC	0.687000													5	12					3.59834e-05	3.9459e-05	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79952206	79952206	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:79952206A>C	ENST00000360280.3	+	47	6391	c.6131A>C	c.(6130-6132)tAt>tCt	p.Y2044S	VPS13A_ENST00000376634.4_Missense_Mutation_p.Y2044S|VPS13A_ENST00000357409.5_Missense_Mutation_p.Y2044S|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y2005S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2044					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAGAACTATCAAATGTGT	0.274000													21	68					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222903001	222903001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:222903001A>T	ENST00000340934.5	+	10	1202	c.796A>T	c.(796-798)Aaa>Taa	p.K266*	BROX_ENST00000537020.1_Nonsense_Mutation_p.K266*|BROX_ENST00000539697.1_Nonsense_Mutation_p.K234*	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	266	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GGCTAGTGATAAATGCGGTGA	0.348000													22	53					0	0	1	0	0
C4orf6	10141	broad.mit.edu	37	4	5527209	5527209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:5527209G>C	ENST00000195455.2	+	1	327	c.152G>C	c.(151-153)aGg>aCg	p.R51T	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	51					nervous system development					large_intestine(1)|prostate(1)	2						cggaaatccaggagagctgac	0.428000													14	45					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572000													35	64					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231637	142231637	+	RNA	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:142231637G>A	ENST00000390364.3	-	0	347																											AGAGTGAGGGGGAGGTCCTCT	0.517000													42	140					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15214244	15214244	+	Silent	SNP	T	T	C	rs138159733		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:15214244T>C	ENST00000355694.2	-	4	411	c.177A>G	c.(175-177)tcA>tcG	p.S59S	TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000512701.1_Silent_p.S125S|TTC39B_ENST00000380850.4_Silent_p.S125S|TTC39B_ENST00000541445.1_Silent_p.S59S|TTC39B_ENST00000297615.5_Intron	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	59							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TGGTTGATGATGAACTAAAGA	0.418000													22	45					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121483539	121483539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:121483539A>G	ENST00000260197.7	+	40	5546	c.5417A>G	c.(5416-5418)aAa>aGa	p.K1806R	SORL1_ENST00000532694.1_Missense_Mutation_p.K652R|SORL1_ENST00000525532.1_Missense_Mutation_p.K750R|SORL1_ENST00000527934.1_Missense_Mutation_p.K421R|SORL1_ENST00000534286.1_Missense_Mutation_p.K716R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1806	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGTCACACAAAGGTAACACT	0.527000													5	17					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979251	111979251	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:111979251G>A	ENST00000374566.3	-	16	2101	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	528						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTCTTTGTTCTCCAGGG	0.587000													59	184					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107923960	107923960	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:107923960C>T	ENST00000328300.6	+	45	4238	c.3994C>T	c.(3994-3996)Cct>Tct	p.P1332S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1326S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1326	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGTCTCCCTGGTGTTCC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				29	37					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66040031	66040031	+	Silent	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:66040031A>G	ENST00000537025.2	+	8	1628	c.1008A>G	c.(1006-1008)gcA>gcG	p.A336A	KPNA2_ENST00000330459.3_Silent_p.A336A			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	336	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGCAGGAGCACTCGCCGTCT	0.478000													41	179					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703739	187703739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:187703739G>T	ENST00000295131.2	-	4	480	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	147					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GACAAATAGAGCAGATATCCT	0.338000													22	385					6.33239e-15	8.53159e-15	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7725032	7725032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:7725032G>A	ENST00000303635.7	+	9	2632	c.2425G>A	c.(2425-2427)Ggg>Agg	p.G809R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCAGAGGACGGGGCGCGGGC	0.682000			T	WWTR1	epitheliod hemangioendothelioma								66	199					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78582509	78582509	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:78582509T>A	ENST00000397909.2	+	33	6180	c.6007T>A	c.(6007-6009)Tgt>Agt	p.C2003S	NAV3_ENST00000536525.2_Missense_Mutation_p.C1981S|NAV3_ENST00000266692.7_Missense_Mutation_p.C1804S|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.C1981S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2003						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGCTGCCTTGTGGATACCT	0.383000										HNSCC(70;0.22)			19	102					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89345806	89345806	+	Silent	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:89345806G>T	ENST00000264346.7	+	15	1946	c.1887G>T	c.(1885-1887)tcG>tcT	p.S629S	HERC6_ENST00000380265.5_Intron	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	629					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCTTTAATTCGCTATCCAAAA	0.264000													14	62					0.000308642	0.000326399	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117450912	117450912	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:117450912G>C	ENST00000160373.3	-	3	412	c.321C>G	c.(319-321)ccC>ccG	p.P107P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	107										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGATGGAGAGGGGGTTGGTAC	0.493000													58	200					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523727	70523727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:70523727G>T	ENST00000538820.1	+	7	891	c.551G>T	c.(550-552)gGg>gTg	p.G184V	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G202V|ITGB1BP2_ENST00000465388.1_3'UTR			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	202	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCACAACCAGGGTGCAGAGTC	0.488000													7	11					0.000157383	0.00016875	1	1	0
PAG1	55824	broad.mit.edu	37	8	81897092	81897092	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:81897092C>A	ENST00000220597.4	-	7	1505	c.795G>T	c.(793-795)ctG>ctT	p.L265L		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	265					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CATTCTCGTCCAGAAGCTTAA	0.483000													49	130					1.81118e-26	2.74163e-26	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117727280	117727280	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:117727280A>C	ENST00000276204.6	+	20	2317	c.2243A>C	c.(2242-2244)cAa>cCa	p.Q748P	DOCK11_ENST00000276202.7_Missense_Mutation_p.Q748P			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	748	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACCAAAAAGCAAGACACAGTT	0.358000													25	30					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82951886	82951886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:82951886G>A	ENST00000260047.6	+	9	1897	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	ANKRD42_ENST00000533342.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000531895.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000393392.2_Missense_Mutation_p.V341M			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	341										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAAAATGATGTGAAATATTT	0.373000													36	102					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943707	121943707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:121943707C>A	ENST00000442488.2	-	1	852	c.785G>T	c.(784-786)tGc>tTc	p.C262F	FEZF1_ENST00000331178.4_Missense_Mutation_p.C262F|FEZF1_ENST00000427185.2_Missense_Mutation_p.C212F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	262					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACACACTTCGCAAGTGAAAAC	0.512000													31	116					2.70662e-09	3.28539e-09	1	1	0
DDHD2	23259	broad.mit.edu	37	8	38103811	38103811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:38103811G>T	ENST00000397166.2	+	9	1643	c.1118G>T	c.(1117-1119)aGt>aTt	p.S373I	DDHD2_ENST00000520272.2_Missense_Mutation_p.S373I|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	373					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATATTGACAGTGAAAAGGTA	0.294000													24	95					1.96895e-08	2.34935e-08	1	1	0
DPYD	1806	broad.mit.edu	37	1	97771826	97771826	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:97771826G>C	ENST00000370192.3	-	17	2186	c.2086C>G	c.(2086-2088)Cgc>Ggc	p.R696G	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTAACCCAGCGGCAGATGTTC	0.428000													70	199					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657172	40657172	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:40657172C>G	ENST00000406785.1	-	2	438	c.249G>C	c.(247-249)gtG>gtC	p.V83V	SLC8A1_ENST00000542756.1_Silent_p.V83V|SLC8A1_ENST00000542024.1_Silent_p.V83V|SLC8A1_ENST00000408028.2_Silent_p.V83V|SLC8A1_ENST00000332839.4_Silent_p.V83V|SLC8A1_ENST00000406391.2_Silent_p.V83V|SLC8A1_ENST00000405901.3_Silent_p.V83V|SLC8A1_ENST00000405269.1_Silent_p.V83V|SLC8A1_ENST00000403092.1_Silent_p.V83V|SLC8A1_ENST00000402441.1_Silent_p.V83V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	83					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGACCATGGCCACAAAATACA	0.403000													45	138					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975365	24975365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:24975365G>T	ENST00000250378.3	-	4	498	c.469C>A	c.(469-471)Ccg>Acg	p.P157T	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P46T	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	157	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TCTGAGCCCGGCTTCAACACA	0.577000													7	46					0.248553	0.248875	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164394460	164394460	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:164394460G>T	ENST00000280605.3	-	1	587	c.427C>A	c.(427-429)Ctt>Att	p.L143I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	143						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTTGTCAAGGTACTTGCCA	0.537000													25	84					2.79863e-10	3.47354e-10	1	1	0
GPR123	84435	broad.mit.edu	37	10	134941872	134941872	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:134941872C>G	ENST00000607359.1	+	16	2697	c.2697C>G	c.(2695-2697)taC>taG	p.Y899*	GPR123_ENST00000392606.2_Nonsense_Mutation_p.Y83*|GPR123_ENST00000392607.3_Nonsense_Mutation_p.Y180*			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	180						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCGCCTTCTACGGCCCAGCCG	0.697000													8	19					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166873037	166873037	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:166873037C>G	ENST00000510118.1	-	14	1390	c.1050G>C	c.(1048-1050)acG>acC	p.T350T	RPS6KA2_ENST00000503859.1_Silent_p.T333T|RPS6KA2_ENST00000481261.2_Silent_p.T236T|RPS6KA2_ENST00000405189.3_Silent_p.T236T|RPS6KA2_ENST00000265678.4_Silent_p.T325T			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	325	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCCGGTACAGCGTCTATTAAT	0.562000													7	24					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30100047	30100047	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:30100047C>A	ENST00000331968.5	-	10	1802	c.1573G>T	c.(1573-1575)Ggt>Tgt	p.G525C	PRKD1_ENST00000415220.2_Missense_Mutation_p.G533C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	525	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACATCTGCACCAACGCCACTG	0.507000													44	110					7.63091e-17	1.05954e-16	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46053585	46053585	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:46053585A>T	ENST00000295452.4	-	8	1154	c.987T>A	c.(985-987)taT>taA	p.Y329*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	329					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCGCAGTCACATAAGAAACCT	0.378000													22	52					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967389	58967389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:58967389C>T	ENST00000391696.1	+	3	1980	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ZNF324B_ENST00000336614.4_Missense_Mutation_p.R360C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R360C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGCCAGCACCGCAAGATCCA	0.667000													8	35					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322426	134322426	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:134322426G>T	ENST00000508956.1	-	10	1975	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	KY_ENST00000423778.2_Missense_Mutation_p.Q661K|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	561						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCCCTCACTGGGCATTCACT	0.572000													30	202					1.13719e-10	1.42982e-10	1	1	0
CACNG2	10369	broad.mit.edu	37	22	36962528	36962528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:36962528G>A	ENST00000300105.6	-	3	1289	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	103					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AATGCTGGAGGCCCTCACGGC	0.572000													13	59					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162724444	162724444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:162724444G>C	ENST00000367922.2	+	6	654	c.216G>C	c.(214-216)tgG>tgC	p.W72C	DDR2_ENST00000367921.3_Missense_Mutation_p.W72C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGGAGCCTGGTGCCCTGAGA	0.557000													18	96					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234044	190234044	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:190234044C>G	ENST00000367462.3	-	4	800	c.569G>C	c.(568-570)aGc>aCc	p.S190T	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S88T|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		190						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCGAAGGGTGCTGTCCCTGTC	0.448000													34	107					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207653360	207653360	+	Silent	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:207653360T>A	ENST00000367057.3	+	18	3339	c.3150T>A	c.(3148-3150)atT>atA	p.I1050I	CR2_ENST00000458541.2_Silent_p.I964I|CR2_ENST00000367058.3_Silent_p.I991I|CR2_ENST00000367059.3_Silent_p.I929I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	991					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTTCTTGATTGTCATTACCT	0.403000													31	57					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741370	98741370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:98741370G>A	ENST00000286067.2	+	1	330	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	75										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGGCAAATGAACAAGATGC	0.433000													22	70					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45388052	45388052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:45388052C>T	ENST00000389039.6	-	30	4439	c.4054G>A	c.(4054-4056)Ggc>Agc	p.G1352S	DUOX2_ENST00000603300.1_Missense_Mutation_p.G1352S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1352	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCATTGCCCTTTGGGGAT	0.627000													18	61					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142509879	142509879	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:142509879T>G	ENST00000273482.6	+	7	1605	c.1214T>G	c.(1213-1215)aTt>aGt	p.I405S	TRPC1_ENST00000476941.1_Missense_Mutation_p.I439S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	439					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGTCAGACATTAAAAGACTC	0.308000													19	74					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082049	152082049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:152082049C>T	ENST00000368804.1	-	2	3643	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1215					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCTCATCCCGGTATCGCTG	0.517000													26	121					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164727128	164727128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:164727128C>A	ENST00000264382.3	-	35	4180	c.4118G>T	c.(4117-4119)tGg>tTg	p.W1373L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1373	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGGCCCACCACTCTGCTGT	0.378000										HNSCC(35;0.089)			15	86					2.61681e-11	3.32814e-11	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321897	79321897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:79321897C>A	ENST00000428286.1	-	8	5416	c.4216G>T	c.(4216-4218)Gat>Tat	p.D1406Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1765Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1765					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCCAGGGATCAGGGCTGCTT	0.438000													16	75					0.000422831	0.000446547	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11676005	11676005	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:11676005C>A	ENST00000423059.3	-	2	1025	c.774G>T	c.(772-774)ggG>ggT	p.G258G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	258						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCTCCAGGGCCCCACATGCA	0.582000										HNSCC(18;0.044)			22	81					2.37509e-13	3.12896e-13	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67023953	67023953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:67023953G>A	ENST00000340001.4	-	13	1830	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	ABCA9_ENST00000453985.2_Missense_Mutation_p.S540L|ABCA9_ENST00000370732.2_Missense_Mutation_p.S540L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	540	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACAGTGACTGAACCTGAAAG	0.353000													16	66					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261621	6261621	+	Missense_Mutation	SNP	C	C	A	rs145756754	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:6261621C>A	ENST00000379936.2	+	4	712	c.597C>A	c.(595-597)gaC>gaA	p.D199E	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	199					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGGCGTGACGCATGGGTGT	0.557000													36	141					1.36161e-19	1.95748e-19	1	1	0
SMG6	23293	broad.mit.edu	37	17	2202737	2202737	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:2202737C>G	ENST00000544865.1	-	2	1727	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	SMG6_ENST00000263073.5_Missense_Mutation_p.G437A			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	437	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.G437V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTACCAGATCCAAACAAAAG	0.542000													57	192					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217783730	217783730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:217783730C>A	ENST00000366935.3	-	5	1141	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R344I	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	344						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GCGACTGAGTCTAGCTTGGAA	0.348000													53	107					4.0306e-16	5.50729e-16	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94540233	94540233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:94540233G>T	ENST00000289495.5	+	1	1024	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D270Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	270						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATACAGAGGATGCTCACAA	0.443000										HNSCC(28;0.073)			15	58					0.00244969	0.00254531	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18124868	18124868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:18124868G>T	ENST00000524803.1	-	2	210	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.S54Y|SAAL1_ENST00000300013.4_Missense_Mutation_p.S54Y			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	54					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATCTGAGCTAGATTTGGTGTT	0.403000													41	163					6.2361e-21	9.08353e-21	1	1	0
ARPC2	10109	broad.mit.edu	37	2	219103471	219103471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:219103471G>T	ENST00000295685.10	+	5	614	c.353G>T	c.(352-354)cGa>cTa	p.R118L	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.R118L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	118					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ATGTTGAAGCGAAATTGTTTT	0.423000													13	195					0.000151284	0.000163117	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777849	237777849	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:237777849G>C	ENST00000366574.2	+	37	5738	c.5421G>C	c.(5419-5421)cgG>cgC	p.R1807R	RYR2_ENST00000542537.1_Silent_p.R1791R|RYR2_ENST00000360064.6_Silent_p.R1805R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1807	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCATGCCCGGGACCCAGTTG	0.478000													93	225					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65619987	65619987	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:65619987C>G	ENST00000308342.6	+	10	1302	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	293					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GTCAGACATGCTGAGGTACTA	0.632000													24	102					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49531541	49531541	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:49531541G>T	ENST00000327171.3	+	5	680	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	GALK2_ENST00000560031.1_Missense_Mutation_p.V161L|GALK2_ENST00000544523.1_Missense_Mutation_p.V137L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.V137L|GALK2_ENST00000559454.1_Missense_Mutation_p.V137L|GALK2_ENST00000543495.1_Missense_Mutation_p.V32L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	161					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GACGCTCACAGTGCTGGGAAG	0.468000													10	55					1.58986e-06	1.80496e-06	1	1	0
SLC26A11	284129	broad.mit.edu	37	17	78196510	78196510	+	Silent	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:78196510C>G	ENST00000361193.3	+	4	571	c.291C>G	c.(289-291)tcC>tcG	p.S97S	SLC26A11_ENST00000411502.3_Silent_p.S97S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Silent_p.S97S|SLC26A11_ENST00000572725.1_Silent_p.S97S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	97						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGCACCTCCCGGGATGTGA	0.617000													44	170					0	0	1	0	0
NPM3	10360	broad.mit.edu	37	10	103542039	103542039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:103542039G>C	ENST00000370110.5	-	4	416	c.394C>G	c.(394-396)Cgg>Ggg	p.R132G	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	132							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCAGTGATCCGCACAGGGCCA	0.617000													7	22					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361130	70361130	+	Splice_Site	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:70361130T>C	ENST00000381096.3	-	2	328		c.e2-2		UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000305107.6_Silent_p.A150A|UGT2B4_ENST00000512583.1_Silent_p.A150A			P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAACAGCATCTGCAAGAACAA	0.393000													14	54					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738761	33738761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:33738761G>A	ENST00000394562.1	-	6	1856	c.1333C>T	c.(1333-1335)Ctt>Ttt	p.L445F	SLFN12_ENST00000452764.3_Missense_Mutation_p.L445F|SLFN12_ENST00000304905.5_Missense_Mutation_p.L445F|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	445							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAATCAGAAGAGCATCACAG	0.468000													26	154					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151960216	151960216	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:151960216C>A	ENST00000355193.2	-	9	1403		c.e9-1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		TCCCGATTGTCTAAAAAATAA	0.338000													30	91					1.75199e-13	2.31202e-13	1	1	0
VPS39	23339	broad.mit.edu	37	15	42476799	42476799	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:42476799C>A	ENST00000318006.5	-	8	796	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	VPS39_ENST00000348544.4_Missense_Mutation_p.D223Y	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	223	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGAGATCATCCTGGCCCACA	0.532000													45	200					2.68985e-26	4.06373e-26	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086468	92086468	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:92086468T>C	ENST00000298047.6	+	1	1207	c.1190T>C	c.(1189-1191)aTa>aCa	p.I397T	FAT3_ENST00000525166.1_Missense_Mutation_p.I247T|FAT3_ENST00000541502.1_Missense_Mutation_p.I397T|FAT3_ENST00000409404.2_Missense_Mutation_p.I397T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	397	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTTGCTATAGTAAAATTA	0.413000										TCGA Ovarian(4;0.039)			7	36					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79569399	79569399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:79569399C>G	ENST00000372391.2	-	24	4558	c.4553G>C	c.(4552-4554)gGt>gCt	p.G1518A	DLG5_ENST00000372388.2_Missense_Mutation_p.G1178A|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1518	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTCCCACCACACAAGTG	0.582000													46	232					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022393	112022393	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:112022393C>G	ENST00000371959.3	-	10	2988	c.2989G>C	c.(2989-2991)Gct>Cct	p.A997P	AMOT_ENST00000304758.1_Missense_Mutation_p.A588P|AMOT_ENST00000524145.1_Missense_Mutation_p.A997P|AMOT_ENST00000371962.1_Missense_Mutation_p.A765P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	997					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGCAGGAGCAGAAGCCTGA	0.622000													21	30					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072825	98072825	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:98072825T>A	ENST00000354924.2	+	1	128	c.128T>A	c.(127-129)cTt>cAt	p.L43H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTGGGGAATCTTGGTCTGGTG	0.463000													78	341					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191329	37191329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:37191329G>A	ENST00000262879.6	+	24	3970	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	RALGAPB_ENST00000397038.1_Missense_Mutation_p.G1007E|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G1229E|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G1225E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1229	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGGTGAAGGATCTCAACAA	0.403000													25	115					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249126	90249126	+	RNA	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:90249126C>A	ENST00000468879.1	+	0	263																											CCGGATGACCCAGTCTCCATT	0.463000													49	192					1.35964e-18	1.94019e-18	1	1	0
SSUH2	51066	broad.mit.edu	37	3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T					ssu-2 homolog (C. elegans)																		TTGCAGGTGGCGCAGGTCTTG	0.572000													53	87					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120977482	120977482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:120977482C>T	ENST00000286234.5	+	4	566	c.436C>T	c.(436-438)Cct>Tct	p.P146S	DEPTOR_ENST00000523492.1_Missense_Mutation_p.P45S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	146	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GCTGATGAGCCCTGAAAACAC	0.463000													16	92					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122125290	122125290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:122125290G>A	ENST00000263710.4	-	35	4149	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	CLASP1_ENST00000455322.2_Missense_Mutation_p.R1210C|CLASP1_ENST00000541377.1_Missense_Mutation_p.R1193C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1194C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R971C|CLASP1_ENST00000545861.1_Missense_Mutation_p.R961C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1187C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1254	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGGAAGGCGCGCGGAGGCTGG	0.632000													33	88					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308682	7308682	+	Missense_Mutation	SNP	C	C	A	rs61749561		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:7308682C>A	ENST00000297498.2	-	3	420	c.254G>T	c.(253-255)aGg>aTg	p.R85M	SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R32M|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	85					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CACACAGATCCTAAATGAGGG	0.463000													14	65					0.132662	0.133701	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90501441	90501441	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:90501441C>A	ENST00000325643.5	+	4	2105	c.2039C>A	c.(2038-2040)cCt>cAt	p.P680H		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCTCCCAGCCTTCTGACTTT	0.602000													48	119					4.18559e-23	6.22596e-23	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86259038	86259038	+	Silent	SNP	T	T	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr15:86259038T>C	ENST00000394518.2	+	20	5714	c.5619T>C	c.(5617-5619)cgT>cgC	p.R1873R	AKAP13_ENST00000394510.2_Silent_p.R118R|AKAP13_ENST00000361243.2_Silent_p.R1877R|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1873					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCAAGGAGCGTCCTCGGTCCG	0.532000													18	79					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71698079	71698079	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:71698079A>G	ENST00000361756.3	+	5	789	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.Y111C|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.Y62C|RNF121_ENST00000393713.3_Missense_Mutation_p.Y111C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	143						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTGCTAATCTATAAAATCAGC	0.418000													21	91					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567555	136567555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:136567555C>A	ENST00000264162.2	-	8	2372	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	788	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACAGAGTCTTCCTTGATAGCT	0.428000													18	55					3.52763e-06	3.97567e-06	1	1	0
COBL	23242	broad.mit.edu	37	7	51097257	51097257	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:51097257G>T	ENST00000395542.2	-	12	1966	c.1782C>A	c.(1780-1782)agC>agA	p.S594R	COBL_ENST00000265136.7_Missense_Mutation_p.S512R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	512										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGAGGGAGCTGGTGTCTG	0.498000													18	72					4.96729e-08	5.84565e-08	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37011780	37011780	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:37011780C>A	ENST00000418263.1	+	3	659	c.309C>A	c.(307-309)atC>atA	p.I103I	CCNA1_ENST00000449823.1_Silent_p.I60I|CCNA1_ENST00000255465.4_Silent_p.I104I|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Silent_p.I60I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	104					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCACAAGAATCAGGTGTTATT	0.478000													29	104					2.65835e-16	3.65168e-16	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200971389	200971389	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr1:200971389C>T	ENST00000332129.2	-	9	1618	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	KIF21B_ENST00000360529.5_Silent_p.L434L|KIF21B_ENST00000422435.2_Silent_p.L434L|KIF21B_ENST00000461742.2_Silent_p.L434L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	434					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCGCAGCCGCAGGGCCCCAT	0.607000													26	117					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489266	36489266	+	Silent	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489266C>T	ENST00000342292.4	-	10	1925	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGGAGGAGCCCCCAGCTTCC	0.622000													9	43					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75187509	75187509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr10:75187509C>T	ENST00000299432.2	-	3	304	c.239G>A	c.(238-240)gGt>gAt	p.G80D	MSS51_ENST00000372912.1_Missense_Mutation_p.G80D	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	80							zinc ion binding										TACGGGGGTACCCCCATCTAC	0.488000													29	101					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329501	117329501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:117329501G>C	ENST00000321322.6	-	19	3718	c.3717C>G	c.(3715-3717)agC>agG	p.S1239R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S969R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1179	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAGCACACTGCTGCGTACGC	0.667000													6	56					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95551054	95551054	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:95551054A>C	ENST00000325542.5	+	5	846	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	CEP57_ENST00000538658.1_Missense_Mutation_p.Q203P|CEP57_ENST00000325486.5_Missense_Mutation_p.Q203P|CEP57_ENST00000541150.1_Missense_Mutation_p.Q194P|CEP57_ENST00000537677.1_Missense_Mutation_p.Q176P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	203	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACCACAATGCAGGCCCTTGCA	0.343000									Mosaic Variegated Aneuploidy Syndrome				42	148					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55964424	55964424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:55964424G>T	ENST00000263923.4	-	17	2684	c.2389C>A	c.(2389-2391)Ctg>Atg	p.L797M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	797					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGTCTTCAGTTCCCCTCCA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	57					0.00010058	0.000108903	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994339	140994339	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:140994339C>A	ENST00000285879.4	+	4	1435	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	383							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCTCCTCCACTTTACTGA	0.483000										HNSCC(15;0.026)			50	112					4.0306e-16	5.50729e-16	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2033444	2033444	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:2033444C>A	ENST00000262113.4	+	14	1707	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	522	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCCGAGATCAGCAGAAACT	0.592000													18	61					1.99824e-07	2.32675e-07	1	1	0
CPB2	1361	broad.mit.edu	37	13	46679070	46679070	+	Splice_Site	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:46679070C>T	ENST00000181383.4	-	1	91		c.e1+1		CPB2_ENST00000439329.3_Splice_Site|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TATTGGGTTACCTCTGAAACG	0.468000													14	30					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117780580	117780580	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:117780580G>A	ENST00000528626.1	-	7	1018	c.945C>T	c.(943-945)atC>atT	p.I315I	TMPRSS13_ENST00000524993.1_Silent_p.I350I|TMPRSS13_ENST00000445164.2_Silent_p.I350I|TMPRSS13_ENST00000430170.2_Silent_p.I350I|TMPRSS13_ENST00000526090.1_Silent_p.I350I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	345	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGCCTCCACAGATGTGGGTGG	0.632000													11	39					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489267	36489267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr17:36489267C>T	ENST00000342292.4	-	10	1924	c.1904G>A	c.(1903-1905)gGg>gAg	p.G635E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAGGAGCCCCCAGCTTCCA	0.622000													9	43					0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107196398	107196398	+	Silent	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr13:107196398C>A	ENST00000400198.3	-	4	1012	c.768G>T	c.(766-768)ctG>ctT	p.L256L	ARGLU1_ENST00000375926.1_Silent_p.L125L|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	256										large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCCCTTGCCCAGGATAATtt	0.348000													23	44					1.87028e-06	2.1202e-06	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4190672	4190672	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:4190672C>A	ENST00000296358.4	-	6	1721	c.1697G>T	c.(1696-1698)cGa>cTa	p.R566L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development	extracellular space|integral to membrane		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502000													9	68					5.4927e-09	6.63594e-09	1	1	0
SNRPD3	6634	broad.mit.edu	37	22	24967993	24967993	+	Silent	SNP	G	G	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr22:24967993G>C	ENST00000402849.1	+	4	410	c.327G>C	c.(325-327)ctG>ctC	p.L109L	SNRPD3_ENST00000215829.3_3'UTR			P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	0	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CAGGTTATCTGAGTTCATTGG	0.393000													3	27					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704925	164704925	+	Splice_Site	SNP	C	C	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:164704925C>A	ENST00000264382.3	-	45	5260		c.e45+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGAGCACTCACCTATACTCTC	0.358000										HNSCC(35;0.089)			24	111					6.21321e-17	8.65812e-17	1	1	0
KLHL8	57563	broad.mit.edu	37	4	88116485	88116485	+	Silent	SNP	G	G	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:88116485G>A	ENST00000273963.5	-	2	548	c.207C>T	c.(205-207)gtC>gtT	p.V69V	KLHL8_ENST00000425278.2_Silent_p.V69V|KLHL8_ENST00000498875.2_Silent_p.V69V|KLHL8_ENST00000512111.1_Silent_p.V69V|KLHL8_ENST00000545252.1_5'UTR	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	69	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTTGAGTGTGACATCACAGA	0.368000													20	57					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216992302	216992303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr2:216992302_216992303insA	ENST00000392133.3	+	10	1303_1304	c.842_843insA	c.(841-843)gaafs	p.E281fs	XRCC5_ENST00000392132.2_Frame_Shift_Ins_p.E281fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	281	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGTGGATGCAAAAACCCTAA	0.307								Non-homologous end-joining					33	81	---	---	---	---					
ALS2CL	259173	broad.mit.edu	37	3	46720728	46720728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:46720728delA	ENST00000318962.4	-	15	1681	c.1598delT	c.(1597-1599)tcfs	p.F533fs	ALS2CL_ENST00000415953.1_Frame_Shift_Del_p.F533fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	533					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCCCTGGTGAAGGTGCCCTC	0.617													2	4	---	---	---	---					
SLC25A20	788	broad.mit.edu	37	3	48921468	48921468	+	Frame_Shift_Del	DEL	C	C	-	rs148259116	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:48921468delC	ENST00000319017.4	-	3	486	c.288delG	c.(286-288)ggfs	p.G96fs	SLC25A20_ENST00000544097.1_Frame_Shift_Del_p.G46fs|SLC25A20_ENST00000430379.1_Intron	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	96					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTAGTTTCTTCCCCAAACCAA	0.512													10	34	---	---	---	---					
ZIC1	7545	broad.mit.edu	37	3	147127985	147127985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:147127985delC	ENST00000282928.4	+	1	815	c.86delC	c.(85-87)gcfs	p.A29fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	29					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCGACGTGGCCGAACGAGAC	0.711													7	71	---	---	---	---					
KCNMB3	27094	broad.mit.edu	37	3	178968722	178968722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:178968722delC	ENST00000392685.2	-	1	696	c.57delG	c.(55-57)agfs	p.R19fs	KCNMB3_ENST00000349697.2_Splice_Site_p.R21_splice|KCNMB3_ENST00000497599.1_Splice_Site_p.R21_splice|KCNMB3_ENST00000314235.5_Splice_Site_p.R23_splice|KCNMB3_ENST00000485523.1_Start_Codon_Del	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	23					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			GAAAGGCTGTCCTTTGGGGAA	0.517													29	114	---	---	---	---					
MAGEF1	64110	broad.mit.edu	37	3	184429442	184429442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:184429442delC	ENST00000317897.3	-	1	394	c.168delG	c.(166-168)cgfs	p.R56fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	56										breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TCGCGCCTTTCCGGGTGAGGG	0.716													10	76	---	---	---	---					
LSG1	55341	broad.mit.edu	37	3	194365411	194365411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr3:194365411delT	ENST00000265245.5	-	13	2002	c.1688delA	c.(1687-1689)cgfs	p.Q563fs	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	563					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGGAGTCGCTGGTGTTGATG	0.398													11	51	---	---	---	---					
POLR2B	5431	broad.mit.edu	37	4	57891562	57891563	+	Frame_Shift_Ins	INS	-	-	T	rs77059714		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:57891562_57891563insT	ENST00000381227.1	+	24	3511_3512	c.3098_3099insT	c.(3097-3099)aggfs	p.R1033fs	POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R958fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1026fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1033fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1033					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGGGTTCACTGGTCGAAAAA	0.381													40	154	---	---	---	---					
MUC7	4589	broad.mit.edu	37	4	71346990	71346990	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr4:71346990delC	ENST00000413702.1	+	4	817	c.529delC	c.(529-531)cafs	p.P177fs	MUC7_ENST00000456088.1_Frame_Shift_Del_p.P177fs|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Frame_Shift_Del_p.P177fs	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	177	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TGCAACTACACCAGCTCCACC	0.537													38	122	---	---	---	---					
PCDHA6	56142	broad.mit.edu	37	5	140209283	140209284	+	Frame_Shift_Del	DEL	GC	GC	-	rs61730774	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140209283_140209284delGC	ENST00000529310.1	+	1	1721_1722	c.1607_1608delGC	c.(1606-1608)afs	p.S536fs	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTGAGCGCGCGCGACG	0.683													45	169	---	---	---	---					
PCDHB18P	54660	broad.mit.edu	37	5	140615346	140615347	+	RNA	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:140615346_140615347insC	ENST00000526308.1	+	0	1409_1410					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTAACAGAGCACCCACTGGACA	0.495													18	70	---	---	---	---					
RP11-779O18.1	0	broad.mit.edu	37	5	172189475	172189475	+	RNA	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:172189475delG	ENST00000518941.1	+	0	388																											CCAGGCAGCCGACCATCCTGG	0.562													24	85	---	---	---	---					
HMP19	51617	broad.mit.edu	37	5	173531322	173531323	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:173531322_173531323insA	ENST00000303177.3	+	4	567_568	c.305_306insA	c.(304-306)cgafs	p.R102fs	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1																					CACAGCTGCCCAGAGGGATTCG	0.490													10	53	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638343	176638344	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:176638343_176638344insG	ENST00000439151.2	+	5	2988_2989	c.2943_2944insG	c.(2941-2946)agggggfs	p.RG981fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.RG712fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.RG878fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.RG712fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	981					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CTAGCCCTAGTGGGGGTGACTC	0.515			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	99	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176694686	176694686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr5:176694686delG	ENST00000439151.2	+	15	5315	c.5270delG	c.(5269-5271)agfs	p.R1757fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1488fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1654fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1488fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1757	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CCACACTACAGGGAGATTGTC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			32	120	---	---	---	---					
VARS2	57176	broad.mit.edu	37	6	30883016	30883024	+	Splice_Site	DEL	TAAGTAGAA	TAAGTAGAA	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr6:30883016_30883024delTAAGTAGAA	ENST00000321897.5	+	2	915		c.e2+2		VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AAAAGAAAGGTAAGTAGAATAAGTAAGAA	0.464													31	163	---	---	---	---					
AUTS2	26053	broad.mit.edu	37	7	70255882	70255883	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:70255882_70255883insG	ENST00000342771.4	+	19	4001_4002	c.3680_3681insG	c.(3679-3681)cggfs	p.R1227fs	AUTS2_ENST00000406775.2_Frame_Shift_Ins_p.R1203fs	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1227										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCTCCACGCTGGGGGGCCGCC	0.653													8	52	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87083894	87083894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:87083894delA	ENST00000265723.4	-	5	412	c.301delT	c.(301-303)cgfs	p.S101fs	ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S101fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAGCAGCGACAAGGAAAAG	0.259													11	47	---	---	---	---					
TRBV27	28560	broad.mit.edu	37	7	142423395	142423395	+	RNA	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr7:142423395delC	ENST00000506718.1	+	0	403				TRBV27_ENST00000390399.3_RNA																							CCTTTACAGGCCCCCTGGAAG	0.488													10	81	---	---	---	---					
NEFM	4741	broad.mit.edu	37	8	24771446	24771446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:24771446delC	ENST00000221166.5	+	1	922	c.140delC	c.(139-141)acfs	p.T47fs	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Frame_Shift_Del_p.T47fs|NEFM_ENST00000518131.1_Frame_Shift_Del_p.T47fs			P07197	NFM_HUMAN	neurofilament, medium polypeptide	47	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCGCCCAGCACCGTGTCCTCC	0.687													17	51	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					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)			CACGCCCAGGGCTGCCCCGCGGC	0.764													4	3	---	---	---	---					
XKR4	114786	broad.mit.edu	37	8	56436204	56436204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr8:56436204delA	ENST00000327381.5	+	3	1471	c.1371delA	c.(1369-1371)ctfs	p.L457fs		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	457						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTGCAGGCTATTCATTTACT	0.458													34	114	---	---	---	---					
DMRT3	58524	broad.mit.edu	37	9	990511	990511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr9:990511delT	ENST00000190165.2	+	2	963	c.925delT	c.(925-927)ccfs	p.S309fs		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	309					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGTTGCCCTCCAATGGGCA	0.572													23	68	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758304	5758304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:5758304delC	ENST00000317121.3	+	1	624	c.558delC	c.(556-558)tgfs	p.C186fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTGAACACTGCCTGTGCTCTA	0.502													27	83	---	---	---	---					
SBF2	81846	broad.mit.edu	37	11	9803081	9803082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:9803081_9803082insT	ENST00000256190.8	-	39	5560_5561	c.5423_5424insA	c.(5422-5424)acafs	p.T1808fs	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1808	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTTGTGTGCTTTGGGGCTCC	0.485													40	156	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	21556012	21556012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:21556012delG	ENST00000298925.5	+	17	1975	c.1822delG	c.(1822-1824)gtfs	p.G608fs	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Frame_Shift_Del_p.G580fs|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Frame_Shift_Del_p.G523fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	580	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G580S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGCAGAAGCGGTTTCCATGA	0.527													18	80	---	---	---	---					
OR6T1	219874	broad.mit.edu	37	11	123813975	123813975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr11:123813975delC	ENST00000321252.2	-	1	605	c.571delG	c.(571-573)acfs	p.D191fs		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGGTGGGTGTCCCCACAAGAA	0.547													14	65	---	---	---	---					
SMCO3	440087	broad.mit.edu	37	12	14959397	14959408	+	In_Frame_Del	DEL	ATGGCTTGGATG	ATGGCTTGGATG	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:14959397_14959408delATGGCTTGGATG	ENST00000316048.2	-	2	279_290	c.207_218delCATCCAAGCCAT	c.(205-219)att>at	p.IIQAI69del	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		GATTTTCATAATGGCTTGGATGATGAGGTCAC	0.410													7	205	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49433233	49433233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:49433233delG	ENST00000301067.7	-	32	8213	c.8214delC	c.(8212-8214)ccfs	p.P2738fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCCAGCAAAGGGGGTCTGGC	0.592													10	30	---	---	---	---					
CABP1	9478	broad.mit.edu	37	12	121098997	121098997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr12:121098997delG	ENST00000453000.1	+	5	1383	c.871delG	c.(871-873)ggfs	p.G291fs	CABP1_ENST00000316803.3_Frame_Shift_Del_p.G355fs|CABP1_ENST00000288616.3_Frame_Shift_Del_p.G212fs|CABP1_ENST00000351200.2_Frame_Shift_Del_p.G152fs			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	355	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACCTCAATGGGGATGGACG	0.532													14	74	---	---	---	---					
OR4L1	122742	broad.mit.edu	37	14	20529093	20529093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:20529093delC	ENST00000315683.1	+	1	890	c.890delC	c.(889-891)gcfs	p.A297fs		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGCAAGAGGCCATAAGAAAA	0.323													45	111	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58								p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													7	239	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16196534	16196534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:16196534delG	ENST00000399408.2	+	21	2900	c.2725delG	c.(2725-2727)gcfs	p.G909fs	ABCC1_ENST00000399410.3_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000345148.5_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000346370.5_Frame_Shift_Del_p.G843fs|ABCC1_ENST00000349029.5_Frame_Shift_Del_p.G784fs|ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000351154.5_Frame_Shift_Del_p.G840fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	899					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AATGGAGAATGGCATGCTGGT	0.597													7	6	---	---	---	---					
MMP15	4324	broad.mit.edu	37	16	58072217	58072217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr16:58072217delG	ENST00000219271.3	+	3	1144	c.359delG	c.(358-360)cafs	p.R120fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	120					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R120L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCGGGGTACGAGTGAAAGCC	0.652													67	99	---	---	---	---					
DNM2	1785	broad.mit.edu	37	19	10940839	10940839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:10940839delC	ENST00000314646.5	+	20	2492	c.2328delC	c.(2326-2328)cafs	p.H776fs	DNM2_ENST00000389253.4_Frame_Shift_Del_p.H776fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.H772fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.H772fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.H776fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.H776fs			P50570	DYN2_HUMAN	dynamin 2	776	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGCATACACCCCCCTGGCC	0.682			"""F, N, Splice, Mis, O"""		ETP ALL								73	131	---	---	---	---					
DEDD2	162989	broad.mit.edu	37	19	42713939	42713941	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:42713939_42713941delCAC	ENST00000595337.1	-	4	587_589	c.500_502delGTG	c.(499-504)gcc>g	p.GA167del	DEDD2_ENST00000598727.1_In_Frame_Del_p.GA167del|DEDD2_ENST00000596251.1_In_Frame_Del_p.GA167del|DEDD2_ENST00000336034.4_In_Frame_Del_p.GA162del|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	167					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGCCGTCTGGCACCACCACTGGG	0.655													47	82	---	---	---	---					
XRCC1	7515	broad.mit.edu	37	19	44057827	44057827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr19:44057827delG	ENST00000262887.5	-	5	970	c.423delC	c.(421-423)ccfs	p.P141fs	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Frame_Shift_Del_p.P110fs			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	141					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCAAGCCAAAGGGGGAGTCCT	0.592								Other BER factors					16	58	---	---	---	---					
LSM14B	149986	broad.mit.edu	37	20	60697741	60697742	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr20:60697741_60697742insC	ENST00000253001.4	+	1	225_226	c.19_20insC	c.(19-21)cccfs	p.P7fs	LSM14B_ENST00000279068.6_Frame_Shift_Ins_p.P7fs|LSM14B_ENST00000370915.1_Frame_Shift_Ins_p.P7fs			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	7					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCCTCAGGCACCCCGTATCTG	0.723													8	36	---	---	---	---					
RIPK4	54101	broad.mit.edu	37	21	43176869	43176870	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chr21:43176869_43176870insC	ENST00000352483.2	-	2	353_354	c.289_290insG	c.(289-291)gtafs	p.V97fs	RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.V97fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.V34fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.V34fs			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	97						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCATGTACTCCATGACCAGG	0.569													18	64	---	---	---	---					
SPIN3	169981	broad.mit.edu	37	X	57021177	57021177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:57021177delC	ENST00000374919.3	-	2	526	c.204delG	c.(202-204)tgfs	p.W68fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	68					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGGTTCCTTTCCACTGTGTTA	0.478													63	110	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336d7-d79a-415f-a3d4-15c706b425e9	94df0b0f-8997-49ef-9ac2-8a31698aa389	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													9	107	---	---	---	---