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
KIF3A	11127	broad.mit.edu	37	5	132069917	132069917	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:132069917G>A	ENST00000378746.4	-	2	478	c.260C>T	c.(259-261)tCt>tTt	p.S87F	KIF3A_ENST00000378735.1_Missense_Mutation_p.S87F|KIF3A_ENST00000403231.1_Missense_Mutation_p.S87F	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	87	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCAAGTACAGAATCAATAAT	0.328000													10	50					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849960	189849960	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:189849960C>A	ENST00000304636.3	+	3	490	c.320C>A	c.(319-321)cCc>cAc	p.P107H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P107H	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	107					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)	CCTCAAGGCCCCAAGGGAGAT	0.343000													10	63					5.16669e-11	5.75238e-11	1	1	0
CNKSR1	10256	broad.mit.edu	37	1	26510261	26510261	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:26510261G>A	ENST00000531191.1	+	8	1028	c.21G>A	c.(19-21)cgG>cgA	p.R7R	CNKSR1_ENST00000361530.6_Silent_p.R265R|CNKSR1_ENST00000374253.5_Silent_p.R272R			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	272	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AACTGCTGCGGGAGCCAGCCG	0.627000													5	69					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849173	98849173	+	RNA	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:98849173G>C	ENST00000554295.1	-	0	1750					NR_033801.1																						GGCAGAATCTGGGCTGTCCCC	0.493000													5	18					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463468	130463468	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:130463468G>C	ENST00000356763.3	-	2	1152	c.595C>G	c.(595-597)Cct>Gct	p.P199A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	199	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAACGTTCAGGAGCAATATAG	0.403000													14	52					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222984	134222984	+	Silent	SNP	C	C	T	rs147723921		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:134222984C>T	ENST00000359579.4	+	8	1100	c.780C>T	c.(778-780)gtC>gtT	p.V260V		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	260					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATGTGATTGTCATCCCCAAGT	0.522000													37	137					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11289371	11289371	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:11289371C>A	ENST00000432929.2	-	5	1635	c.1275G>T	c.(1273-1275)tcG>tcT	p.S425S	KANK2_ENST00000589894.1_Silent_p.S425S|KANK2_ENST00000589359.1_Silent_p.S425S|KANK2_ENST00000355150.5_Silent_p.S425S|KANK2_ENST00000586659.1_Silent_p.S425S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	425	Poly-Ser.									endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGACGAAGACGATTCGGCAG	0.617000													5	29					0.014758	0.0149943	1	1	0
MTRF1L	54516	broad.mit.edu	37	6	153323592	153323592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:153323592C>A	ENST00000367233.5	-	1	228	c.229G>T	c.(229-231)Gag>Tag	p.E77*	MTRF1L_ENST00000367230.1_Nonsense_Mutation_p.E77*|MTRF1L_ENST00000367231.5_Nonsense_Mutation_p.E77*|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	77						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCCCGCAGCTCCCGCTCCTTC	0.617000													5	22					0.00116845	0.00121101	1	1	0
RYR2	6262	broad.mit.edu	37	1	237961396	237961396	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:237961396G>A	ENST00000366574.2	+	97	14333	c.14016G>A	c.(14014-14016)atG>atA	p.M4672I	RYR2_ENST00000360064.6_Missense_Mutation_p.M4678I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4656I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4672					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)			TACTTGGCATGGACAAGGCAG	0.433000													4	18					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88232508	88232508	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:88232508G>A	ENST00000298767.5	-	6	2226	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	585	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGTTCCTTTGAAGACAGCCT	0.343000													3	58					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520603	129520603	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:129520603G>A	ENST00000305031.4	+	3	2126	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	590						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATTAACAGTGAAACTCAGTC	0.388000													6	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598077	179598077	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179598077C>T	ENST00000589042.1	-	54	16167	c.15943G>A	c.(15943-15945)Gtt>Att	p.V5315I	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4071I|TTN_ENST00000591111.1_Missense_Mutation_p.V4998I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4998							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)			AGCTGGGCAACATTGTTTTTA	0.453000													9	67					0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29699014	29699014	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:29699014G>C	ENST00000304863.4	-	2	688	c.266C>G	c.(265-267)tCt>tGt	p.S89C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	89					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GCGGTATTCAGAGAAGTCAGG	0.428000													12	73					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153483149	153483149	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:153483149G>C	ENST00000288670.9	+	17	2440	c.2073G>C	c.(2071-2073)gtG>gtC	p.V691V	FMNL2_ENST00000475377.2_Silent_p.V66V|FMNL2_ENST00000497192.1_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	691	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAACAAAGTGACATTACTAG	0.378000													5	21					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146399628	146399628	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:146399628G>A	ENST00000442909.2	+	8	1402		c.e8+1		NBPF12_ENST00000446760.2_Splice_Site|NBPF12_ENST00000309471.8_Splice_Site					neuroblastoma breakpoint family, member 12											ovary(2)	2						CTGCCCCCAGGTAACACTGAA	0.418000													73	444					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769841	144769841	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:144769841G>A	ENST00000367545.3	+	16	2008	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	670	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCTAAGCAGGAACTGCCTCC	0.418000													8	55					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139264	178139264	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:178139264G>C	ENST00000335815.2	-	5	1812	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	539					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		CTTCGATGCTGAATAAGAGCT	0.368000													16	94					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044217	20044217	+	Silent	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:20044217G>T	ENST00000343769.5	+	4	481	c.453G>T	c.(451-453)ggG>ggT	p.G151G	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	151						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATAAATATGGGAAAGTCTTTC	0.323000													3	42					0.004672	0.00480599	1	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545886	22545886	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:22545886G>A	ENST00000424340.1	+	7	1861	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.D528N	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTCAGCAGATGATAATATCAA	0.602000													8	298					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17873533	17873533	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:17873533C>G	ENST00000597512.1	+	1	22	c.11C>G	c.(10-12)tCt>tGt	p.S4C	FCHO1_ENST00000594202.1_Intron|FCHO1_ENST00000599236.1_Intron|FCHO1_ENST00000596536.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000596951.1_Intron			O14526	FCHO1_HUMAN	FCH domain only 1	0	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGATGTTCTCTCCATCCTTT	0.552000													8	67					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366393	248366393	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:248366393C>A	ENST00000456743.1	+	1	62	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCGACCTTCAACTCCGACT	0.448000													18	135					2.4624e-09	2.73048e-09	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165756992	165756992	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:165756992C>T	ENST00000366882.1	-	20	2110		c.e20-1		PDE10A_ENST00000354448.4_Splice_Site|PDE10A_ENST00000539869.2_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACACGGTCTCTAGAACACAA	0.373000													6	50					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921141	12921141	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:12921141A>T	ENST00000240189.2	+	4	1019	c.932A>T	c.(931-933)aAg>aTg	p.K311M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	311										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGACTTGAAGTGTCTCTCC	0.493000													26	184					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256675	140256675	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:140256675G>C	ENST00000398631.2	+	1	1618	c.1618G>C	c.(1618-1620)Gcc>Ccc	p.A540P	PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGCGACGCCGGCGTGCC	0.697000													20	107					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866258	12866258	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12866258C>T	ENST00000549706.1	+	6	1026	c.702C>T	c.(700-702)ctC>ctT	p.L234L	BEST2_ENST00000042931.1_Silent_p.L234L|BEST2_ENST00000553030.1_Silent_p.L234L			Q8NFU1	BEST2_HUMAN	bestrophin 2	234					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGTACCCCTCGTGTACACGC	0.507000													4	50					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776855	164776855	+	Missense_Mutation	SNP	T	T	C	rs112053533		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:164776855T>C	ENST00000264382.3	-	12	1356	c.1294A>G	c.(1294-1296)Ata>Gta	p.I432V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	432	Isomaltase.				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)	CGTCGACCTATGGAAATTGCA	0.358000										HNSCC(35;0.089)			4	46					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34107456	34107456	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:34107456C>G	ENST00000361264.4	-	3	782	c.441G>C	c.(439-441)gaG>gaC	p.E147D	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	147						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AAGGATTCAGCTCGATGGCAT	0.537000													22	74					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619546	57619546	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:57619546G>A	ENST00000374888.1	+	1	1278	c.1065G>A	c.(1063-1065)atG>atA	p.M355I		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	355	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						AGGCGCACATGAAGGGCCATG	0.607000													11	30					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678454	130678454	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:130678454T>A	ENST00000338616.3	+	1	505	c.407T>A	c.(406-408)aTg>aAg	p.M136K		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCAGTGGTTATGAATGGCCCA	0.542000													41	93					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471204	128471204	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:128471204G>A	ENST00000322313.4	-	18	3419	c.3261C>T	c.(3259-3261)ttC>ttT	p.F1087F		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1087					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GATCCCGGGGGAAACGTTCAT	0.617000													20	147					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20037350	20037350	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:20037350G>C	ENST00000245957.5	+	2	129	c.53G>C	c.(52-54)aGa>aCa	p.R18T	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R18T|C20orf26_ENST00000377306.1_Missense_Mutation_p.R18T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	18										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATTGCCGAAGAACAGAATCA	0.353000													10	85					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38020001	38020001	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:38020001C>T	ENST00000261439.4	+	4	1264	c.909C>T	c.(907-909)atC>atT	p.I303I	TBC1D1_ENST00000508802.1_Silent_p.I303I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	303	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTACCTCATCAGTCCTGACA	0.318000													5	53					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154853	5154853	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:5154853G>A	ENST00000252321.3	+	1	1769	c.1540G>A	c.(1540-1542)Gtc>Atc	p.V514I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	514						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.V514F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCTGTGCCCGTCATCGTCTC	0.627000													13	47					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367142	50367142	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:50367142C>G	ENST00000315520.5	+	1	523	c.186C>G	c.(184-186)ttC>ttG	p.F62L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	62					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCATCACCTTCAACCTGGTCA	0.637000													26	94					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490847	56490847	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:56490847G>C	ENST00000291971.3	+	9	3035	c.2964G>C	c.(2962-2964)ttG>ttC	p.L988F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L969F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	988						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATCTGGACTTGAGCAAGAATG	0.498000													12	107					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92565071	92565071	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:92565071C>G	ENST00000298047.6	+	13	9782	c.9765C>G	c.(9763-9765)gtC>gtG	p.V3255V	FAT3_ENST00000409404.2_Silent_p.V3255V|FAT3_ENST00000525166.1_Silent_p.V3105V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3255	Cadherin 30.				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)				GCACCCAAGTCCTTGCTGTTT	0.507000										TCGA Ovarian(4;0.039)			7	14					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11128121	11128121	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:11128121T>A	ENST00000376936.4	-	24	2620	c.2571A>T	c.(2569-2571)aaA>aaT	p.K857N	EXOSC10_ENST00000304457.7_Missense_Mutation_p.K832N|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	857					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ACTGTTTAATTTTTTTGGCTG	0.478000													12	79					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067493	11067493	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:11067493C>T	ENST00000287766.4	+	9	1305	c.884C>T	c.(883-885)tCa>tTa	p.S295L	SLC6A1_ENST00000536032.1_Missense_Mutation_p.S117L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	295					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCTTCTTCTCATACGGGCTG	0.522000													7	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179570024	179570024	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179570024G>C	ENST00000589042.1	-	103	29705	c.29481C>G	c.(29479-29481)ctC>ctG	p.L9827L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L8583L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L9510L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9510	Ig-like 79.						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)			CAACATTTTTGAGAAGTTCCA	0.358000													7	27					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977046	12977046	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:12977046G>A	ENST00000273221.4	-	3	1728	c.1512C>T	c.(1510-1512)acC>acT	p.T504T		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	504					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTTGTGGTAGGTCTGCTTGC	0.577000													18	148					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641731	179641731	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179641731A>G	ENST00000589042.1	-	28	5084	c.4860T>C	c.(4858-4860)acT>acC	p.T1620T	TTN_ENST00000460472.2_Silent_p.T1574T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1574T|TTN_ENST00000342992.6_Silent_p.T1620T|TTN_ENST00000591111.1_Silent_p.T1620T|TTN_ENST00000342175.6_Silent_p.T1574T|TTN_ENST00000360870.5_Silent_p.T1620T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1354	Ig-like 7.						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)			CTTGGCTGACAGTGGAATCGA	0.418000													14	76					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039932	31039932	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:31039932G>C	ENST00000355537.3	+	4	3553	c.3406G>C	c.(3406-3408)Gat>Cat	p.D1136H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAGGAGCCTGATGGAAAGGC	0.522000													9	64					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100030607	100030607	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:100030607C>T	ENST00000310512.2	+	2	2125	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	MEPCE_ENST00000414441.1_Silent_p.L110L	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	579	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGTGGTGCTCTGCCTCAGCC	0.587000													16	62					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55527188	55527188	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:55527188C>T	ENST00000219070.4	+	9	1964	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	MMP2_ENST00000437642.2_Silent_p.I435I|MMP2_ENST00000543485.1_Silent_p.I409I|MMP2_ENST00000570308.1_Silent_p.I409I	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	485	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GTGGTGAGATCTTCTTCTTCA	0.532000													31	130					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133779064	133779064	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:133779064T>C	ENST00000536435.2	+	6	1122	c.792T>C	c.(790-792)ctT>ctC	p.L264L	ZNF268_ENST00000537565.1_Silent_p.L103L|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.L264L|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AATCGCAACTTATGTGCCAAC	0.378000													3	15					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47295898	47295898	+	Splice_Site	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:47295898T>A	ENST00000396220.1	-	13	1611	c.1589A>T	c.(1588-1590)aAa>aTa	p.K530I	PREX1_ENST00000371941.3_Splice_Site_p.K530I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	530	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTAACTTACTTGATCACCGG	0.512000													10	66					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141754	133141754	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:133141754G>T	ENST00000388996.4	-	15	2794	c.2374C>A	c.(2374-2376)Ctg>Atg	p.L792M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L780M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L672M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	792					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACCGACATCAGGGACAGAGGT	0.612000													7	47					0.0809354	0.0819284	1	1	0
C22orf31	25770	broad.mit.edu	37	22	29456557	29456557	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:29456557G>A	ENST00000216071.4	-	2	329	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	93										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AAACTTGCATGGTGGTGGGCA	0.468000													29	71					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059259	119059259	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:119059259C>T	ENST00000371410.3	-	9	1338	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	391	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTCTTTCGTCTCTCTTC	0.448000													24	64					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27211646	27211646	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:27211646T>C	ENST00000283921.4	-	2	1104	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V	RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Missense_Mutation_p.I53V|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	369					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CTGCGGCTAATCTCTAGGCGC	0.517000													31	101					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115364439	115364439	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:115364439G>A	ENST00000369358.4	-	35	4424	c.4180C>T	c.(4180-4182)Cac>Tac	p.H1394Y	NRAP_ENST00000360478.3_Missense_Mutation_p.H1351Y|NRAP_ENST00000359988.3_Missense_Mutation_p.H1386Y|NRAP_ENST00000369360.3_Missense_Mutation_p.H1359Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1386						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.H1386D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGTGATACTGTGTC	0.587000													6	54					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262088	45262088	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:45262088C>G	ENST00000303230.4	-	8	2665	c.2608G>C	c.(2608-2610)Gaa>Caa	p.E870Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	870						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGAAGATTCTCTTGGAAGA	0.532000													20	101					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931238	144931238	+	Silent	SNP	T	T	A	rs150343138		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:144931238T>A	ENST00000529945.1	-	1	910	c.471A>T	c.(469-471)tcA>tcT	p.S157S	PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313431.9_Silent_p.S157S|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGGGCCTTCTGAACCATGGC	0.547000			T	PDGFRB	MPD								6	172					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122591388	122591388	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:122591388T>C	ENST00000261038.5	+	8	1663	c.1265T>C	c.(1264-1266)tTt>tCt	p.F422S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	422					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GTTGTCACTTTTTTAAGTAAT	0.318000													21	97					0	0	1	0	0
DNPH1	10591	broad.mit.edu	37	6	43193613	43193613	+	Missense_Mutation	SNP	G	G	A	rs112399499		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:43193613G>A	ENST00000230431.6	-	4	410	c.383C>T	c.(382-384)tCg>tTg	p.S128L	DNPH1_ENST00000393987.2_3'UTR	NM_006443.2	NP_006434.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		GATCATGGCCGAAAGCACTGG	0.617000													9	41					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362440	78362440	+	Missense_Mutation	SNP	C	C	T	rs34195711		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:78362440C>T	ENST00000397909.2	+	5	802	c.629C>T	c.(628-630)tCg>tTg	p.S210L	NAV3_ENST00000228327.6_Missense_Mutation_p.S210L|NAV3_ENST00000536525.2_Missense_Mutation_p.S210L|NAV3_ENST00000266692.7_Missense_Mutation_p.S210L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			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						TCCCCTCCATCGGAAGCCAGC	0.458000										HNSCC(70;0.22)			8	46					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150023254	150023254	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:150023254C>T	ENST00000543571.1	-	2	556	c.9G>A	c.(7-9)agG>agA	p.R3R	LATS1_ENST00000253339.5_Silent_p.R3R|LATS1_ENST00000392273.3_Silent_p.R3R	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	3					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTCACTCCTCTTCATGA	0.393000													11	65					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99569553	99569553	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:99569553G>C	ENST00000411734.1	-	2	149	c.144C>G	c.(142-144)ggC>ggG	p.G48G	AZGP1_ENST00000292401.4_Silent_p.G51G			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	51					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATTGAGTGAGCCAAGGGCCT	0.493000													9	74					0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138760785	138760785	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:138760785G>A	ENST00000302060.5	-	5	658	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	193					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTCACATTTGAAAACATATG	0.423000													20	88					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256432	9256432	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:9256432C>T	ENST00000262126.4	+	9	3407	c.3167C>T	c.(3166-3168)tCa>tTa	p.S1056L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1033L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCTAAGTCATCACCAGCA	0.328000													14	79					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	306408	306408	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:306408C>G	ENST00000390665.3	-	7	898		c.e7-1			NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta						cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCCACATTCTGCCAAAGGA	0.657000													8	77					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906095	164906095	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:164906095C>A	ENST00000475390.1	-	2	2967	c.2524G>T	c.(2524-2526)Gca>Tca	p.A842S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A842S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	842						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACCAACTGCTGGGTGGTGA	0.572000										HNSCC(40;0.11)			17	91					1.56452e-12	1.7561e-12	1	1	0
AP2S1	1175	broad.mit.edu	37	19	47349274	47349274	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:47349274G>A	ENST00000263270.6	-	2	354	c.129C>T	c.(127-129)gaC>gaT	p.D43D	AP2S1_ENST00000597020.1_Silent_p.D23D|AP2S1_ENST00000601498.1_Silent_p.D59D|AP2S1_ENST00000601649.1_Silent_p.D43D|AP2S1_ENST00000599990.1_Silent_p.D45D|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000352203.4_Silent_p.D43D	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	43					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGTTTGGCGTCTCGGACGG	0.602000													7	33					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978168	138978168	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:138978168C>T	ENST00000473989.3	+	16	3860	c.3860C>T	c.(3859-3861)tCg>tTg	p.S1287L	UBN2_ENST00000288561.8_Missense_Mutation_p.S1204L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACAACCACCTCGGGATCTACC	0.522000													6	63					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019334	39019334	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:39019334C>T	ENST00000355481.4	+	74	11149	c.11018C>T	c.(11017-11019)tCa>tTa	p.S3673L	RYR1_ENST00000360985.3_Splice_Site_p.S3678L|RYR1_ENST00000359596.3_Splice_Site_p.S3678L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3678					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGACCTTTCAGTGAGCTGG	0.612000													5	37					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890217	5890217	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:5890217G>C	ENST00000581347.2	-	3	2491	c.1846C>G	c.(1846-1848)Ctg>Gtg	p.L616V	TMEM200C_ENST00000383490.2_Missense_Mutation_p.L616V|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GTGCTTTCCAGTTCTTCTTCT	0.502000													15	77					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86836725	86836725	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:86836725C>T	ENST00000359242.3	-	10	1313	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	ODF2L_ENST00000394731.1_Silent_p.L213L|ODF2L_ENST00000294678.2_Silent_p.L344L|ODF2L_ENST00000370566.3_Silent_p.L344L|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Silent_p.L344L|ODF2L_ENST00000370567.1_Silent_p.L344L	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	344						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCTCAAGATTCAGAGTTTCAT	0.308000													10	57					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43571351	43571351	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:43571351G>A	ENST00000405006.4	-	30	4604	c.4253C>T	c.(4252-4254)tCa>tTa	p.S1418L	THADA_ENST00000405975.2_Missense_Mutation_p.S1418L|THADA_ENST00000415080.2_Missense_Mutation_p.S1099L|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1418							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGGAGTCTGAGTAGGCTTG	0.393000													5	20					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332288	100332288	+	RNA	SNP	C	C	T	rs113961788		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:100332288C>T	ENST00000341853.1	-	0	1903					NR_003260.1																						GGAGACCCACCGGGCCATGCA	0.652000													8	31					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33283524	33283524	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:33283524G>A	ENST00000269195.5	+	10	1553	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	GALNT1_ENST00000537549.1_Missense_Mutation_p.D424N	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	484	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCTTTGCTTGGATGTTTCCAA	0.388000													37	71					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	43					0	0	1	0	0
SPATC1L	84221	broad.mit.edu	37	21	47581370	47581370	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:47581370G>T	ENST00000291672.5	-	5	2007	c.946C>A	c.(946-948)Ctg>Atg	p.L316M	SPATC1L_ENST00000330205.6_Missense_Mutation_p.L162M	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like																		GAGTCGCCCAGGAACTTGGGG	0.711000													4	18					0.014758	0.0149943	1	1	0
NACC1	112939	broad.mit.edu	37	19	13249074	13249074	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:13249074A>G	ENST00000292431.4	+	6	1564	c.1438A>G	c.(1438-1440)Aag>Gag	p.K480E		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	480					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCCCAAGGTCAAGGTGCTCAA	0.607000													4	139					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574827	115574827	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:115574827G>A	ENST00000371900.4	+	5	613	c.525G>A	c.(523-525)gtG>gtA	p.V175V		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	175					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTGTAATGTGAGTACAGTGA	0.318000													4	20					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140182	178140182	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:178140182C>T	ENST00000335815.2	-	5	894	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	233					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		TGGTTTTTCTCATGTTTACGA	0.328000													9	64					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061370	126061370	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:126061370G>A	ENST00000318410.7	-	19	2606	c.2257C>T	c.(2257-2259)Cgt>Tgt	p.R753C	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R605C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	753					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAAAAGAACGATGGAATCCA	0.418000													10	63					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41058217	41058217	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:41058217G>A	ENST00000399564.4	-	7	1154	c.704C>T	c.(703-705)cCc>cTc	p.P235L	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGGAGCCAGGGCACCTGGCC	0.537000													8	35					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66973191	66973191	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:66973191C>T	ENST00000317091.4	+	3	1529	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CES2_ENST00000417689.1_Missense_Mutation_p.S182F	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	118					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCTTCCGACTCCATGTCTGAG	0.557000													35	92					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877676	106877676	+	RNA	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:106877676G>A	ENST00000390619.2	-	0	367																											GCTTCAGGGAGAACTGGTTCT	0.532000													12	332					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390167	48390167	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:48390167G>A	ENST00000224600.4	-	1	824	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G237G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657000													16	25					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506593	7506593	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:7506593G>C	ENST00000359920.6	+	2	850	c.597G>C	c.(595-597)caG>caC	p.Q199H	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R157T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Q41H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	199					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AATTTAAGCAGACAGCTGATG	0.418000													18	133					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42850646	42850646	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:42850646C>G	ENST00000200557.6	+	11	1012	c.843C>G	c.(841-843)ctC>ctG	p.L281L	ADAM11_ENST00000535346.1_Silent_p.L81L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	281	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGGAGCAGCTCAACACTCGCA	0.607000													10	45					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402483	38402483	+	RNA	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:38402483G>A	ENST00000426402.2	-	0	525																											AGGTGGCACAGTAATAGACCC	0.483000													5	63					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123413	140123413	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:140123413A>G	ENST00000458420.3	+	4	632	c.442A>G	c.(442-444)Ata>Gta	p.I148V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	148	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGTGGTCCATATACAGGTGAA	0.537000										HNSCC(16;0.037)			9	66					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118575086	118575086	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:118575086G>C	ENST00000263239.2	+	2	280	c.152G>C	c.(151-153)aGa>aCa	p.R51T	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	51							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGGAAGTAGAAAGGTTAAA	0.363000													6	48					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433663	67433663	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:67433663G>A	ENST00000349015.3	-	6	687	c.249C>T	c.(247-249)gcC>gcT	p.A83A	ALDH3B2_ENST00000530069.1_Silent_p.A83A	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	83					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCAGCACCACGGCAAAGCAGC	0.652000													8	68					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212714	105212714	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:105212714G>C	ENST00000332972.5	+	12	1601	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	ADSSL1_ENST00000555674.1_Missense_Mutation_p.G44A|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Missense_Mutation_p.G438A|ADSSL1_ENST00000556623.1_Missense_Mutation_p.G44A	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	438					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)	AATCACGTGGGAGTCGCAGGT	0.642000													11	41					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2487288	2487288	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:2487288C>A	ENST00000397066.4	+	5	593	c.505C>A	c.(505-507)Cac>Aac	p.H169N		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	169					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCCGTGGTTCACGAGAGCCT	0.657000													4	9					0.00909568	0.00931009	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65273813	65273813	+	RNA	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:65273813C>T	ENST00000534336.1	+	0	8581					NR_002819.2																						ATTGTATATTCATATTTACAC	0.373000													6	24					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806523	27806523	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:27806523G>T	ENST00000606613.1	+	1	145	c.84G>T	c.(82-84)aaG>aaT	p.K28N	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K28N			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	28					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGGACGGCAAGAAGCGCAAGC	0.602000													34	228					6.00712e-18	6.83569e-18	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412933	105412933	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:105412933C>G	ENST00000333244.5	-	7	8974	c.8855G>C	c.(8854-8856)aGa>aCa	p.R2952T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2952						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTTGCTCTCGGGGCCTC	0.622000													7	470					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201790637	201790637	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:201790637C>T	ENST00000234296.2	-	13	1318	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	357					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AGGACTTCTTCTGTTATAGAA	0.338000													14	86					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	232144743	232144743	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:232144743G>T	ENST00000439617.2	+	11	2308	c.2255G>T	c.(2254-2256)tGg>tTg	p.W752L	DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000427560.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	752	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TTGGAAGAATGGAAGACTCAC	0.532000													7	46					5.18039e-06	5.52888e-06	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72050712	72050712	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:72050712C>G	ENST00000378743.3	-	2	1326	c.968G>C	c.(967-969)gGa>gCa	p.G323A	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G323A|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G323A	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	323					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGTTTTGCTCCATCTTTAAC	0.338000													21	114					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131825905	131825905	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:131825905G>C	ENST00000358369.4	+	11	1391	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_Intron	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	389						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GACCAAGGCTGAGAAGGTAGC	0.577000													10	37					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405725	47405725	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:47405725C>A	ENST00000295454.3	+	7	1124	c.832C>A	c.(832-834)Cta>Ata	p.L278I	GABRB1_ENST00000538619.1_Missense_Mutation_p.L208I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	278					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)	CAGAGTCGCACTAGGTAATAC	0.398000													12	52					1.5842e-08	1.74262e-08	1	1	0
COPS8	10920	broad.mit.edu	37	2	237997262	237997262	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:237997262A>G	ENST00000354371.2	+	3	817	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	COPS8_ENST00000409334.1_Missense_Mutation_p.Y55C|COPS8_ENST00000409629.1_Missense_Mutation_p.Y55C|COPS8_ENST00000392008.2_Missense_Mutation_p.Y6C	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	55					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATGCAAGATATCTTTGGAAA	0.318000													6	44					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758321	99758321	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:99758321G>A	ENST00000360039.4	-	4	1083	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.P169S|GAL3ST4_ENST00000411994.1_Silent_p.I129I|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.P231S|GAL3ST4_ENST00000423751.1_Silent_p.I129I	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	231					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCTGGGGGGATGAATATTC	0.597000													23	116					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019748	56019748	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:56019748G>A	ENST00000303059.3	+	1	73	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G25C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTGTCATCAGGTTTGGATAT	0.373000													8	75					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6210578	6210578	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:6210578G>A	ENST00000350796.3	-	8	730	c.594C>T	c.(592-594)atC>atT	p.I198I	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Silent_p.I113I	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	198	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGAGCATGATGATGGCGA	0.632000													8	20					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318284	71318284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:71318284C>A	ENST00000338099.5	-	3	1876	c.1540G>T	c.(1540-1542)Gaa>Taa	p.E514*	CMTR2_ENST00000434935.2_Nonsense_Mutation_p.E514*					cap methyltransferase 2	514																	TTTAAAATTTCACCATTGCAA	0.343000													12	63					3.07112e-06	3.29905e-06	1	1	0
CRP	1401	broad.mit.edu	37	1	159683625	159683625	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:159683625G>A	ENST00000255030.5	-	2	468	c.365C>T	c.(364-366)tCa>tTa	p.S122L	CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	122	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CACGATCCCTGAGGCGGACTC	0.507000													32	133					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137166802	137166802	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:137166802C>G	ENST00000541292.1	+	4	475	c.389C>G	c.(388-390)tCt>tGt	p.S130C	PEX7_ENST00000318471.4_Missense_Mutation_p.S130C			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	130					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTGTGGTGTCTGGCTCATGG	0.363000													10	49					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790740	57790740	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:57790740G>C	ENST00000396776.2	+	3	839	c.377G>C	c.(376-378)gGa>gCa	p.G126A	GAPT_ENST00000318469.2_Missense_Mutation_p.G126A	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	126					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CATATCTATGGAAATGAGACA	0.378000													8	87					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167334164	167334164	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:167334164T>C	ENST00000409855.1	-	2	169	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	15					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAAGACTCTTTAGTGAAGGGA	0.348000													3	11					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90106791	90106791	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:90106791C>T	ENST00000268699.4	+	9	1217	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	GAS8_ENST00000536122.1_Silent_p.L340L|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	365					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TCAAGAACCTCGTGCTAGAAC	0.612000													3	19					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938988	2938988	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:2938988C>T	ENST00000378404.2	+	1	943	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	246						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGCTGCCCGACGGGAACATCA	0.652000													13	71					0	0	1	0	0
LOC728715	728715	broad.mit.edu	37	12	9717779	9717779	+	RNA	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:9717779G>C	ENST00000520314.1	+	0	4208																											AGACTGAGAAGAGTTGCTACG	0.458000													4	4					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95552046	95552046	+	Missense_Mutation	SNP	G	G	A	rs143711180	byFrequency	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:95552046G>A	ENST00000325542.5	+	6	915	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEP57_ENST00000325486.5_Missense_Mutation_p.R226H|CEP57_ENST00000537677.1_Missense_Mutation_p.R199H|CEP57_ENST00000541150.1_Missense_Mutation_p.R217H|CEP57_ENST00000538658.1_Missense_Mutation_p.R226H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	226	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)				GAAAGGAAACGCATGCAAGCT	0.353000									Mosaic Variegated Aneuploidy Syndrome				39	41					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67761246	67761246	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:67761246G>C	ENST00000317506.3	-	13	1831	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L	RANBP10_ENST00000536251.1_Silent_p.L343L|RANBP10_ENST00000448631.2_Silent_p.L546L|RANBP10_ENST00000602677.1_Silent_p.L602L|RANBP10_ENST00000411657.2_Silent_p.L485L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	572										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGGCGCTGTTGAGGGCAGCAC	0.522000													5	23					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408319	28408319	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:28408319G>A	ENST00000261609.7	-	69	10775	c.10667C>T	c.(10666-10668)tCa>tTa	p.S3556L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3556					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGCACACTGACAGCTTGAG	0.627000													10	43					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175989	57175989	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57175989G>A	ENST00000537055.2	-	2	809	c.578C>T	c.(577-579)cCg>cTg	p.P193L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCAGCGGTGCGGCTTCTCGCC	0.731000													5	19					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520414	129520414	+	Missense_Mutation	SNP	C	C	T	rs148391625		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:129520414C>T	ENST00000305031.4	+	3	1937	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	527						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTATGGCTACCGCAGAGTTAA	0.468000													5	38					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36923361	36923361	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:36923361T>C	ENST00000358127.4	-	7	975	c.901A>G	c.(901-903)Att>Gtt	p.I301V	PAX5_ENST00000446742.1_Missense_Mutation_p.I235V|PAX5_ENST00000377852.2_Missense_Mutation_p.I301V|PAX5_ENST00000522003.1_Missense_Mutation_p.I193V|PAX5_ENST00000523145.1_Missense_Mutation_p.I193V|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.I301V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.I258V|PAX5_ENST00000520281.1_Missense_Mutation_p.I258V|PAX5_ENST00000377847.2_Missense_Mutation_p.I301V	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	301					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCTGTCACAATGGGGTAGGAC	0.622000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								13	79					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109854505	109854505	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:109854505C>G	ENST00000424296.2	-	28	3595	c.3519G>C	c.(3517-3519)aaG>aaC	p.K1173N	AK9_ENST00000355283.1_Missense_Mutation_p.K252N|AK9_ENST00000341338.6_Missense_Mutation_p.K252N	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CTAATTTCTTCTTTTGTTTTA	0.338000													6	61					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043226	35043226	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:35043226C>A	ENST00000312292.5	+	2	647	c.600C>A	c.(598-600)ccC>ccA	p.P200P	C9orf131_ENST00000421362.2_Silent_p.P152P|C9orf131_ENST00000354479.5_Silent_p.P127P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	200										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGGTCTCCCCTCTCTGCACA	0.542000													9	83					7.48243e-07	8.1117e-07	1	1	0
EBF2	64641	broad.mit.edu	37	8	25708192	25708192	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:25708192C>T	ENST00000520164.1	-	15	2151	c.1614G>A	c.(1612-1614)caG>caA	p.Q538Q	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Silent_p.Q390Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	538					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGGCACTCTTCTGTTTGACAG	0.517000													10	35					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744345	70744345	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:70744345G>A	ENST00000260126.4	-	2	1270	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SLCO5A1_ENST00000524945.1_Silent_p.F188F|SLCO5A1_ENST00000530307.1_Silent_p.F188F|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGGCCGCCGAAGTAGCTGA	0.642000													5	38					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43664329	43664329	+	Splice_Site	SNP	C	C	T	rs1803833		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:43664329C>T	ENST00000593152.2	-	12	1970	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	ATP5A1_ENST00000282050.2_Splice_Site_p.R527R|ATP5A1_ENST00000590665.1_Splice_Site_p.R505R|ATP5A1_ENST00000398752.6_Splice_Site_p.R527R	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	527					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TTCCATCAGCCCTATTTGGAA	0.343000													12	47					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29214380	29214380	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:29214380A>C	ENST00000321990.4	+	19	4626	c.4248A>C	c.(4246-4248)ttA>ttC	p.L1416F		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1416					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AACGACCATTAACCCTTTATC	0.353000													10	64					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895391	237895391	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:237895391G>T	ENST00000366574.2	+	78	11298	c.10981G>T	c.(10981-10983)Gtt>Ttt	p.V3661F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3659F|RYR2_ENST00000542537.1_Missense_Mutation_p.V3645F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3661					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)			CACTAAGAGAGTTGATCCTCT	0.393000													6	49					8.12818e-05	8.54236e-05	1	1	0
KDM5A	5927	broad.mit.edu	37	12	464390	464390	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:464390A>G	ENST00000399788.2	-	7	1166	c.804T>C	c.(802-804)gtT>gtC	p.V268V	KDM5A_ENST00000382815.4_Silent_p.V268V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	268					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACCTGTTGGTAACTTTTCGTC	0.388000			T	NUP98	AML								19	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454137	179454137	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179454137T>A	ENST00000589042.1	-	304	62539	c.62315A>T	c.(62314-62316)gAt>gTt	p.D20772V	TTN_ENST00000460472.2_Missense_Mutation_p.D11707V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D11832V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18204V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19131V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11899V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19131	Fibronectin type-III 50.						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)			TAATTTCAGATCAAGTACTGG	0.453000													15	56					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													4	44					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360130	72360130	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:72360130G>A	ENST00000441259.1	-	2	689	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PRF1_ENST00000373209.2_Missense_Mutation_p.R177C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	177	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTGTAGAAGCGGCACTCCACC	0.612000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				15	20					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279200	51279200	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:51279200A>G	ENST00000551456.1	+	4	869	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	274	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						CCTTTAAAATATTTTCTGAAG	0.348000													16	62					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467061	58467061	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:58467061G>A	ENST00000357552.3	-	24	2573	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S783L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	783					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTTGTTTCGAATCCCAGGA	0.328000													8	75					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131124450	131124450	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:131124450C>T	ENST00000357668.1	-	23	2318	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.R764Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	764					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.R764L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATAGGAGAGCCGCTGTTTGTC	0.597000													17	54					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063533	48063533	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:48063533C>A	ENST00000316364.5	+	19	3212	c.2773C>A	c.(2773-2775)Cgg>Agg	p.R925R	SEMA6D_ENST00000354744.4_Silent_p.R869R|SEMA6D_ENST00000389432.2_Silent_p.R882R|SEMA6D_ENST00000537942.1_Silent_p.R863R|SEMA6D_ENST00000389433.2_Silent_p.R906R|SEMA6D_ENST00000389428.3_Silent_p.R850R|SEMA6D_ENST00000536845.2_Silent_p.R925R|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.R863R|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Silent_p.R863R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	925					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTCCCTAACCGGGAGGCATC	0.537000													6	81					3.59834e-05	3.80106e-05	1	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130399756	130399756	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:130399756G>A	ENST00000529410.1	+	16	1777	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R408K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R408K|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R433K|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R433K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R408K			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	433					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGGAACATAGAAGAACCCTT	0.373000													11	90					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41088555	41088555	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:41088555G>C	ENST00000324545.8	+	42	7744	c.7111G>C	c.(7111-7113)Gac>Cac	p.D2371H	USP9X_ENST00000378308.2_Missense_Mutation_p.D2371H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGGCTGTTTGACACAATCCA	0.343000													11	16					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641934	57641934	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57641934G>C	ENST00000254181.4	+	4	2345	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	USP29_ENST00000598197.1_Missense_Mutation_p.E631Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	631					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTAGAGTCAGAATTGGTCCA	0.483000													14	41					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27156200	27156200	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:27156200T>A	ENST00000343028.4	-	2	440	c.215A>T	c.(214-216)cAg>cTg	p.Q72L	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	72						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATTCTGATACTGTGAGTGTAT	0.333000													5	44					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941116	37941116	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:37941116G>C	ENST00000373087.6	+	2	135	c.19G>C	c.(19-21)Gag>Cag	p.E7Q		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	7					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCTGTGGAGAGAAGCCTGT	0.622000													14	71					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497132	74497132	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:74497132C>T	ENST00000437994.2	+	21	2944	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	CD109_ENST00000422508.2_Missense_Mutation_p.S761L|CD109_ENST00000287097.5_Missense_Mutation_p.S838L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	838						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGCTCTTTCACCCACTGCT	0.428000													15	62					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929629	121929629	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:121929629C>A	ENST00000265922.3	-	8	2480	c.2019G>T	c.(2017-2019)gtG>gtT	p.V673V	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	673																	TGACCTGCTGCACTGCACTGC	0.542000													17	112					9.7654e-05	0.000102499	1	1	0
FAM209B	388799	broad.mit.edu	37	20	55111397	55111397	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:55111397G>C	ENST00000371325.1	+	2	515	c.419G>C	c.(418-420)gGc>gCc	p.G140A		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	140						integral to membrane											ATGGCAACAGGCAGTGGCAGT	0.428000													15	75					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25334036	25334036	+	RNA	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:25334036G>C	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-20_ENST00000384507.1_lincRNA	NR_003361.1																						TCGTCGAACTGAGGTCCAGCA	0.463000													44	233					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18731172	18731172	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:18731172G>C	ENST00000513874.1	-	18	2899	c.2760C>G	c.(2758-2760)tcC>tcG	p.S920S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	819										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCCAGGCCAGGGAAATGCTGG	0.567000													4	41					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630799	122630799	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:122630799T>C	ENST00000195173.4	-	20	3311	c.3008A>G	c.(3007-3009)cAg>cGg	p.Q1003R	SEMA5B_ENST00000357599.3_Missense_Mutation_p.Q1005R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q1059R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1005	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGGCGGCTCTGGCTGCTGTT	0.642000													3	16					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78742913	78742913	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:78742913G>A	ENST00000334082.6	-	4	1792	c.350C>T	c.(349-351)tCa>tTa	p.S117L	HOMER1_ENST00000508576.1_Missense_Mutation_p.S117L|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	117					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTCTCTTGTGATTTTTCCTT	0.338000													7	36					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158882713	158882713	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:158882713C>A	ENST00000367097.3	+	6	2335	c.978C>A	c.(976-978)ttC>ttA	p.F326L	TULP4_ENST00000367094.2_Missense_Mutation_p.F326L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	326					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGGTCAAGTTCTACAATGTTC	0.512000													9	45					1.12685e-05	1.19646e-05	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75978002	75978002	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:75978002G>A	ENST00000308508.5	-	4	3922	c.3830C>T	c.(3829-3831)tCa>tTa	p.S1277L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1277	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCTTCACTGAGAATACGAT	0.632000													6	12					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321095	22321095	+	RNA	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:22321095G>T	ENST00000390435.1	+	0	253																											CTTTGAGGCTGAATTTAAGAG	0.512000													7	36					2.0095e-06	2.16711e-06	1	1	0
GCM2	9247	broad.mit.edu	37	6	10874873	10874873	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:10874873A>G	ENST00000379491.4	-	5	1023	c.876T>C	c.(874-876)taT>taC	p.Y292Y	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	292					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGAATCCTTATAAAGGGTGG	0.413000													19	220					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183908014	183908014	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:183908014C>T	ENST00000361927.4	-	12	2133	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D196N|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D325N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TGTGTCCTATCCCAGTCGGTG	0.597000													14	90					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121264639	121264639	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:121264639G>T	ENST00000264233.5	-	1	214	c.86C>A	c.(85-87)gCc>gAc	p.A29D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	29					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGGGGGCTGGCACTGCTGTC	0.657000								DNA polymerases (catalytic subunits)					8	17					1.06961e-07	1.17033e-07	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199950	155199950	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:155199950T>A	ENST00000460012.1	-	23	4132	c.3775A>T	c.(3775-3777)Aca>Tca	p.T1259S	PLCH1_ENST00000334686.6_Missense_Mutation_p.T1259S|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1297S|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1259S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1297					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAGGCCGCTGTCTTGGCCTTA	0.468000													5	188					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221053787	221053787	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:221053787G>C	ENST00000366903.6	+	1	2089	c.588G>C	c.(586-588)ctG>ctC	p.L196L		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	196					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAACACGCTGAGAGGTAGGT	0.552000													11	58					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472882	70472882	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:70472882C>T	ENST00000373998.1	-	2	921	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ZMYM3_ENST00000353904.2_Missense_Mutation_p.G75E|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373981.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373978.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G75E|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G75E	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	75					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCAGTGGCTCCATCCAGGAC	0.652000													5	12					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676709	138676709	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:138676709G>A	ENST00000298480.5	+	27	3204	c.3130G>A	c.(3130-3132)Gag>Aag	p.E1044K	KCNT1_ENST00000263604.3_Missense_Mutation_p.E1025K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E1011K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E999K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E1003K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E1025K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E1044K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E1023K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1044						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTACCGGACAGAGAGCCACGT	0.647000													14	87					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490831	58490831	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:58490831C>T	ENST00000341164.4	-	7	1837	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E	ZNF606_ENST00000536132.1_Missense_Mutation_p.G316E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GAAAGACGTCCCACATTCATT	0.363000													18	62					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	129					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585070	82585070	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:82585070T>C	ENST00000333891.9	-	5	5536	c.5199A>G	c.(5197-5199)tcA>tcG	p.S1733S	PCLO_ENST00000423517.2_Silent_p.S1733S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGATGATACTGATGTAGGGG	0.502000													46	87					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652735	121652735	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:121652735C>T	ENST00000393386.2	+	12	4046	c.3635C>T	c.(3634-3636)cCc>cTc	p.P1212L	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1212					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTGAAACCCCCAAAGTTGAT	0.388000													16	148					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370297	240370297	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:240370297G>A	ENST00000319653.9	+	5	2415	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	729					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)			TCTCAGGTTAGAAGAAAAGGA	0.547000													4	38					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190936662	190936662	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:190936662G>C	ENST00000445281.1	+	3	296	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	OSTN_ENST00000339051.1_Missense_Mutation_p.E77Q|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	77					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TGATGTGATTGAGACAAAGAA	0.453000													6	67					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342131	42342131	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:42342131G>C	ENST00000330743.3	-	4	1627	c.416C>G	c.(415-417)tCc>tGc	p.S139C	LYPD4_ENST00000601246.1_Missense_Mutation_p.S104C|LYPD4_ENST00000343055.4_Missense_Mutation_p.S104C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	139						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCAGCTACAGGACGCAGATGT	0.507000													12	58					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885862	180885862	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:180885862T>A	ENST00000367588.4	+	2	678	c.623T>A	c.(622-624)tTg>tAg	p.L208*		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	208										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCAGCTCTTTGCAACAGAGC	0.597000													16	109					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13050910	13050910	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:13050910C>T	ENST00000316448.5	+	4	514	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	147	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCATGTCATCTTCAACTACA	0.527000													4	50					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193148	128193148	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:128193148C>T	ENST00000284694.7	-	3	741	c.621G>A	c.(619-621)ctG>ctA	p.L207L	C10orf90_ENST00000544758.1_Silent_p.L304L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Silent_p.L160L|C10orf90_ENST00000454341.1_Silent_p.L207L|C10orf90_ENST00000392694.1_Silent_p.L160L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	207										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)		CGGGAACCTTCAGCCGCACCA	0.592000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	72					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079439	100079439	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:100079439C>T	ENST00000375202.2	+	23	2372	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	CCDC180_ENST00000411667.2_Silent_p.S337S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.S479S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Silent_p.S479S|CCDC180_ENST00000529487.1_Silent_p.S340S					coiled-coil domain containing 180																		AGCTGGACAGCCGCCACCGCT	0.617000													9	61					0	0	1	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778029	27778029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:27778029G>T	ENST00000369163.2	+	1	188	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	60					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GAAGTCCACCGAGCTGCTGAT	0.622000													4	64					0.00909568	0.00931009	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871206	51871206	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:51871206T>C	ENST00000371497.5	+	2	2096	c.1209T>C	c.(1207-1209)ggT>ggC	p.G403G	TSHZ2_ENST00000329613.6_Silent_p.G400G|TSHZ2_ENST00000603338.2_Silent_p.G400G	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	403					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGTCACAGGTCACTTTCTCA	0.537000													25	136					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101733709	101733709	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:101733709C>A	ENST00000318607.5	-	1	1231	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Missense_Mutation_p.G35W	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	35	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AGGATGGGCCCGGCCGGGCTG	0.677000													6	32					0.217242	0.218567	1	1	0
TEX15	56154	broad.mit.edu	37	8	30701061	30701061	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:30701061G>T	ENST00000256246.2	-	1	5547	c.5473C>A	c.(5473-5475)Ctg>Atg	p.L1825M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1825										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGATTTCCAGGTCTTCTAAA	0.368000													14	41					1.3612e-06	1.46989e-06	1	1	0
TSN	7247	broad.mit.edu	37	2	122520583	122520583	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:122520583G>A	ENST00000389682.3	+	5	623	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Intron|TSN_ENST00000409193.1_Missense_Mutation_p.E121K	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	126					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TTTTTTAGTTGAGCCAGATCG	0.363000													11	57					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173354351	173354351	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:173354351G>A	ENST00000375221.2	+	21	2964	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	ITGA6_ENST00000264107.7_Missense_Mutation_p.E882K|ITGA6_ENST00000264106.6_Missense_Mutation_p.E921K|ITGA6_ENST00000409080.1_Missense_Mutation_p.E882K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.E763K|ITGA6_ENST00000343713.4_Missense_Mutation_p.E877K			P23229	ITA6_HUMAN	integrin, alpha 6	921					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGTAACTTGTGAGCCACAAAA	0.378000													10	37					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70507700	70507700	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:70507700C>T	ENST00000338508.4	-	22	1939		c.e22+1		SHANK2_ENST00000423696.2_Splice_Site|SHANK2_ENST00000449116.2_Splice_Site|SHANK2_ENST00000409530.1_Splice_Site|SHANK2_ENST00000449833.2_Splice_Site|SHANK2_ENST00000409161.1_Splice_Site|SHANK2_ENST00000357171.3_Splice_Site			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTGCTCTTACCTTTGGCCCC	0.493000													6	130					0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	727007	727007	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:727007A>G	ENST00000219551.2	+	3	685	c.658A>G	c.(658-660)Aag>Gag	p.K220E	RHBDL1_ENST00000352681.3_Missense_Mutation_p.K155E			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	220					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCGCCTCAACAAGTGGGTGCT	0.657000													3	42					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203670021	203670021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:203670021G>T	ENST00000357681.5	+	6	1994	c.871G>T	c.(871-873)Gag>Tag	p.E291*	ATP2B4_ENST00000391954.2_Nonsense_Mutation_p.E291*|ATP2B4_ENST00000367218.3_Nonsense_Mutation_p.E291*|ATP2B4_ENST00000367219.3_Nonsense_Mutation_p.E291*|ATP2B4_ENST00000341360.2_Nonsense_Mutation_p.E291*	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	291					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGGTCAATGAGGATGACGA	0.507000													5	38					0.000602214	0.0006281	1	1	0
DEFB127	140850	broad.mit.edu	37	20	139611	139611	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:139611A>G	ENST00000382388.3	+	2	321	c.246A>G	c.(244-246)caA>caG	p.Q82Q		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	82					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	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)			TGACTCTTCAAGACTATGTTA	0.373000													16	64					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290802	5290802	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:5290802T>C	ENST00000380237.1	-	4	541	c.197A>G	c.(196-198)aAg>aGg	p.K66R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K66R			P02100	HBE_HUMAN	hemoglobin, epsilon 1	66					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACCTTCTTGCCATGGGC	0.517000													42	91					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79938035	79938035	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:79938035C>T	ENST00000373275.4	-	38	4542	c.4326G>A	c.(4324-4326)aaG>aaA	p.K1442K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1442										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCCTTCTCCTCTTCTGACTCT	0.388000													33	63					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56235360	56235360	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:56235360C>G	ENST00000332836.2	-	4	2172	c.2145G>C	c.(2143-2145)aaG>aaC	p.K715N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	715						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCTCTTCTATCTTGCACATTG	0.488000													16	83					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133547666	133547666	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:133547666G>A	ENST00000409261.1	-	13	1395	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	NCKAP5_ENST00000409213.1_Missense_Mutation_p.S341L|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S341L|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S341L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	341	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCAGGTGCTTGAAAGAGACAG	0.532000													6	19					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779215	36779215	+	Silent	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:36779215A>T	ENST00000416516.2	-	2	1426	c.936T>A	c.(934-936)acT>acA	p.T312T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	312						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATCTCTGAGAGTCATCCTTC	0.577000													35	164					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372576	133372576	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:133372576G>C	ENST00000204726.3	-	11	2889	c.2331C>G	c.(2329-2331)atC>atG	p.I777M	GOLGA3_ENST00000456883.2_Missense_Mutation_p.I777M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.I777M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.I777M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.I777M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	777					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCGCCTCCAAGATGATCTTCT	0.597000													15	41					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43851731	43851731	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:43851731T>G	ENST00000372457.4	-	6	703	c.660A>C	c.(658-660)ttA>ttC	p.L220F	MED8_ENST00000372455.4_Missense_Mutation_p.L131F|MED8_ENST00000290663.6_Missense_Mutation_p.L220F|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	220					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACCTGCTGTAATCCTGAGG	0.582000													39	190					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861579	55861579	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:55861579T>C	ENST00000302124.2	+	1	827	c.796T>C	c.(796-798)Tcg>Ccg	p.S266P		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAACACATCATCGCTGACCCA	0.468000													8	61					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692943	26692943	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:26692943C>G	ENST00000529632.2	+	4	1255	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	SEZ6L_ENST00000360929.3_Silent_p.L353L|SEZ6L_ENST00000404234.3_Silent_p.L353L|SEZ6L_ENST00000343706.4_Silent_p.L353L|SEZ6L_ENST00000248933.6_Silent_p.L353L|SEZ6L_ENST00000402979.1_Silent_p.L126L|SEZ6L_ENST00000403121.1_Silent_p.L126L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	353	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCAGACACTCCTGGTGGAGG	0.622000													20	13					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108798	147108798	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:147108798C>T	ENST00000383075.3	-	4	1436	c.924G>A	c.(922-924)tcG>tcA	p.S308S	ZIC4_ENST00000425731.3_Silent_p.S346S|ZIC4_ENST00000473123.1_Silent_p.S308S|ZIC4_ENST00000484399.1_Silent_p.S308S|ZIC4_ENST00000491672.1_Silent_p.S102S|ZIC4_ENST00000525172.2_Silent_p.S358S|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	308						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						CCGACGAGGGCGACACGAGGG	0.687000													5	36					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294359	29294359	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:29294359G>A	ENST00000331664.5	-	1	2768	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	923					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGCTGCTCAGGTCCAGGGCTG	0.667000													7	24					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158662584	158662584	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:158662584C>G	ENST00000407559.3	+	2	212	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	18										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGATGACCTCAGAAAACATC	0.363000													8	35					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41160555	41160555	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:41160555C>T	ENST00000483722.1	-	4	1055	c.870G>A	c.(868-870)aaG>aaA	p.K290K		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	290					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGTCTCTTCTTCCAAAACC	0.557000													9	80					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123850620	123850620	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:123850620C>G	ENST00000373855.1	+	3	276	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	CNTRL_ENST00000373865.2_Missense_Mutation_p.Q6E|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q6E			Q7Z7A1	CNTRL_HUMAN	centriolin	6					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAAGGTTCTCAACAAAAAAT	0.333000													6	52					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284043	33284043	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:33284043G>C	ENST00000431845.2	-	2	802	c.651C>G	c.(649-651)ttC>ttG	p.F217L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.F217L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAAGATGAGAAATCAGTGG	0.607000													8	61					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529035	5529035	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:5529035G>A	ENST00000311659.4	-	2	1901	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	585										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTCTGCAGAGTCCAGTGC	0.527000													9	69					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17156085	17156085	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:17156085G>C	ENST00000377833.4	-	8	889	c.824C>G	c.(823-825)tCc>tGc	p.S275C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	275	EGF-like 3; calcium-binding (Potential).				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)	CACAAGTGTGGAGCAAGGCCC	0.572000													7	15					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415439	145415439	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:145415439T>C	ENST00000336751.5	+	3	496	c.258T>C	c.(256-258)taT>taC	p.Y86Y	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	86					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCGCTCCTATGCGCTCTGCA	0.662000													11	70					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669710	99669710	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:99669710C>G	ENST00000303915.6	-	5	1364	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	ZNF3_ENST00000299667.4_Missense_Mutation_p.E133Q|ZNF3_ENST00000424697.1_Missense_Mutation_p.E133Q|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	133					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGACTGACTTCTCGTTCATAG	0.448000													29	101					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185124	130185124	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:130185124G>T	ENST00000422113.2	-	2	525	c.199C>A	c.(199-201)Cag>Aag	p.Q67K		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	67						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGATATCCTGGTTGGCCTCC	0.552000													4	34					0.0215528	0.0218709	1	1	0
ETV6	2120	broad.mit.edu	37	12	12037408	12037408	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:12037408C>G	ENST00000396373.4	+	6	1313	c.1039C>G	c.(1039-1041)Cag>Gag	p.Q347E		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	347						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q347*(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTACGTCTATCAGTTGCTTTC	0.443000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								31	130					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578016	155578016	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:155578016G>A	ENST00000461783.3	+	29	6140	c.4867G>A	c.(4867-4869)Gag>Aag	p.E1623K	TIAM2_ENST00000275246.7_Missense_Mutation_p.E548K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E935K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1623K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E999K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E967K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1647K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1652K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1652K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1623					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAAGGAGGAGAGCAGCCCAA	0.582000													4	35					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57743410	57743410	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57743410C>T	ENST00000302804.7	+	3	300	c.114C>T	c.(112-114)ctC>ctT	p.L38L	AURKC_ENST00000598785.1_Silent_p.L4L|AURKC_ENST00000448930.1_Silent_p.L4L|AURKC_ENST00000415300.2_Silent_p.L19L|AURKC_ENST00000599062.1_Silent_p.L35L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	38					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GGCGGCGCCTCACAGTCGATG	0.552000													14	43					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389260	20389260	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:20389260C>A	ENST00000315915.4	+	1	520	c.495C>A	c.(493-495)aaC>aaA	p.N165K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTGTGAACCTGCCTTTTT	0.438000													20	309					1.64113e-05	1.73804e-05	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682892	31682892	+	Silent	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:31682892A>T	ENST00000319386.3	+	11	2457	c.1464A>T	c.(1462-1464)ccA>ccT	p.P488P	CCDC129_ENST00000407970.3_Silent_p.P636P|CCDC129_ENST00000409210.1_Silent_p.P544P|CCDC129_ENST00000451887.2_Silent_p.P662P			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	636										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TACTCGTACCAGAAAGCTCAT	0.468000													3	62					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768790	51768790	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:51768790C>A	ENST00000316401.7	+	3	572	c.191C>A	c.(190-192)cCc>cAc	p.P64H	SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		ATGCTTGGCCCCTGGGCTAAC	0.567000													15	44					3.27435e-08	3.59221e-08	1	1	0
TPO	7173	broad.mit.edu	37	2	1418219	1418219	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:1418219G>A	ENST00000345913.4	+	2	130	c.39G>A	c.(37-39)atG>atA	p.M13I	TPO_ENST00000329066.4_Missense_Mutation_p.M13I|TPO_ENST00000337415.3_Missense_Mutation_p.M13I|TPO_ENST00000346956.3_Missense_Mutation_p.M13I|TPO_ENST00000382269.3_Missense_Mutation_p.M13I|TPO_ENST00000349624.3_Missense_Mutation_p.M13I|TPO_ENST00000382198.1_Missense_Mutation_p.M13I|TPO_ENST00000382201.3_Missense_Mutation_p.M13I|TPO_ENST00000539820.1_Missense_Mutation_p.M13I|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	13					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTGGTTATGGCCTGCACAG	0.483000													6	29					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46248665	46248665	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:46248665C>T	ENST00000336378.4	+	13	1278	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V	FAM21C_ENST00000537517.1_Missense_Mutation_p.A363V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A331V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A387V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A387V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	387										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATCGGCAAGCTGGAGCCTCT	0.498000													8	63					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139903725	139903725	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:139903725A>G	ENST00000297183.6	+	25	4516	c.4392A>G	c.(4390-4392)aaA>aaG	p.K1464K	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1464K|ANKHD1_ENST00000360839.2_Silent_p.K1464K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aaaagaaaaaagaggaacaga	0.358000													3	14					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32615424	32615424	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:32615424A>G	ENST00000531120.1	+	6	609	c.546A>G	c.(544-546)tcA>tcG	p.S182S	EIF3M_ENST00000524896.1_Silent_p.S50S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	182						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					ATGCTGCTTCAAAAGTCATGG	0.393000													9	65					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185798861	185798861	+	Silent	SNP	A	A	G	rs76963399	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:185798861A>G	ENST00000306376.5	-	6	582	c.336T>C	c.(334-336)taT>taC	p.Y112Y	ETV5_ENST00000537818.1_Silent_p.Y154Y|ETV5_ENST00000434744.1_Silent_p.Y112Y	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	112					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACTTTTCTCCATAGTTAGCAC	0.527000			T	"""TMPRSS2, SCL45A3"""	Prostate								37	278					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397518	56397518	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:56397518G>C	ENST00000394109.3	+	3	1069	c.345G>C	c.(343-345)gtG>gtC	p.V115V	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000394115.2_Silent_p.V115V|SUOX_ENST00000356124.4_Silent_p.V115V|SUOX_ENST00000266971.3_Silent_p.V115V|SUOX_ENST00000548274.1_Silent_p.V115V			P51687	SUOX_HUMAN	sulfite oxidase	115	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CAGAATTTGTGGACCTACATC	0.552000													12	63					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46065657	46065657	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:46065657G>A	ENST00000349995.5	+	10	1191	c.1079G>A	c.(1078-1080)aGa>aAa	p.R360K	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	360					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAAAATAATAGAGATCACTGT	0.388000													4	82					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71792812	71792812	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:71792812C>T	ENST00000299980.4	-	11	1428	c.987G>A	c.(985-987)ctG>ctA	p.L329L	AP1G1_ENST00000423132.2_Silent_p.L332L|AP1G1_ENST00000433195.2_Silent_p.L352L|AP1G1_ENST00000569748.1_Silent_p.L329L|AP1G1_ENST00000393512.3_Silent_p.L332L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	329					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACAAAGATGTCAGAGCCACAT	0.343000													12	21					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180040067	180040067	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:180040067G>A	ENST00000261937.6	-	25	3453	c.3375C>T	c.(3373-3375)tgC>tgT	p.C1125C	FLT4_ENST00000502649.1_Silent_p.C1125C|FLT4_ENST00000393347.3_Silent_p.C1125C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1125	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAGCCGCTGGCAGAACTCCT	0.667000													11	56					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694164	129694164	+	Silent	SNP	C	C	A	rs144492988		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:129694164C>A	ENST00000422113.2	-	5	1670	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	448						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGGGACGGCCACCGTCTTCC	0.577000													5	42					0.184627	0.18598	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132432057	132432057	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:132432057T>C	ENST00000326682.8	-	6	1107	c.1031A>G	c.(1030-1032)gAt>gGt	p.D344G	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000337331.5_Missense_Mutation_p.D344G			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	344					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATTTTCAACATCTATTGGAAA	0.289000													12	67					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124557	26124557	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:26124557C>T	ENST00000602637.1	+	1	127	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R33C			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	33					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCGAGTGCACCGCCTGCTCCG	0.637000													14	66					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463952	66463952	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:66463952C>G	ENST00000533211.1	-	21	4405	c.4074G>C	c.(4072-4074)ctG>ctC	p.L1358L	SPTBN2_ENST00000309996.2_Silent_p.L1358L|SPTBN2_ENST00000529997.1_Silent_p.L1358L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1358					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCAGGTCTCTCAGCTTCTCCG	0.587000													28	148					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885863	180885863	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:180885863G>T	ENST00000367588.4	+	2	679	c.624G>T	c.(622-624)ttG>ttT	p.L208F		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	208										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCAGCTCTTTGCAACAGAGCC	0.592000													15	108					1.3612e-06	1.46989e-06	1	1	0
NDST4	64579	broad.mit.edu	37	4	115997675	115997675	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:115997675G>A	ENST00000264363.2	-	2	1196	c.518C>T	c.(517-519)cCa>cTa	p.P173L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	173	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)		TTGTGTACTTGGTAAGCTGTT	0.363000													20	53					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32306189	32306189	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:32306189C>A	ENST00000302418.4	-	24	3100	c.2643G>T	c.(2641-2643)ctG>ctT	p.L881L	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	881					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TAGCTTCTTTCAGTGCTGATT	0.443000			T	"""RET, ALK"""	NSCLC								30	72					9.39395e-14	1.06164e-13	1	1	0
LIPE	3991	broad.mit.edu	37	19	42907089	42907089	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:42907089C>G	ENST00000244289.4	-	9	2913	c.2637G>C	c.(2635-2637)ttG>ttC	p.L879F	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	879					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCCTCAGGCTCAAGTCCCTCA	0.612000													16	35					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509052	52509052	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:52509052G>T	ENST00000242839.4	-	21	4394	c.4238C>A	c.(4237-4239)tCc>tAc	p.S1413Y	ATP7B_ENST00000417240.2_Missense_Mutation_p.S624Y|ATP7B_ENST00000400370.3_Missense_Mutation_p.S983Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.S1302Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.S1348Y|ATP7B_ENST00000448424.2_Missense_Mutation_p.S1335Y|ATP7B_ENST00000344297.5_Missense_Mutation_p.S1206Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1413					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGCCCTGGGGGAGTCCCGCCA	0.632000									Wilson disease				15	39					1.49906e-05	1.58962e-05	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87703405	87703405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:87703405C>A	ENST00000436978.1	+	37	6509	c.6029C>A	c.(6028-6030)tCa>tAa	p.S2010*	PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S2010*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.S2005*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1814*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1986*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2005						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTAATGATTCATTCTCCACG	0.438000													8	58					5.4927e-09	6.07437e-09	1	1	0
KLHL40	131377	broad.mit.edu	37	3	42730205	42730205	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:42730205G>A	ENST00000287777.4	+	3	1517	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N		NM_152393.2	NP_689606.2			kelch-like family member 40																		CAAAGGCAGTGACAGGTGAGG	0.582000													9	42					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183640138	183640138	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:183640138G>A	ENST00000264065.7	+	23	2776	c.2361G>A	c.(2359-2361)aaG>aaA	p.K787K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATCAAGGCAAGAGGAATAAGG	0.358000													11	30					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43380533	43380533	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:43380533G>C	ENST00000039989.4	+	1	43	c.29G>C	c.(28-30)cGg>cCg	p.R10P	TTC17_ENST00000299240.6_Missense_Mutation_p.R10P|RP11-484D2.2_ENST00000526220.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	10							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTCGTGGCCGGTACGAGCTG	0.706000													3	14					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38573039	38573039	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:38573039A>C	ENST00000423485.1	-	2	288	c.130T>G	c.(130-132)Ttg>Gtg	p.L44V		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	44					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGGCGGAGCAAAATATGTTCC	0.353000													24	138					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162615	33162615	+	RNA	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:33162615A>T	ENST00000510327.1	-	0	346																											CACCGTGCCGACAGTGGTAAG	0.483000													7	32					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66361124	66361124	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:66361124G>C	ENST00000533244.1	+	2	492	c.51G>C	c.(49-51)gcG>gcC	p.A17A	CCS_ENST00000310190.4_5'UTR	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	17	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGGAGTTCGCGGTGCAGATGA	0.562000													7	30					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413326	124413326	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:124413326C>T	ENST00000291478.5	+	20	2625	c.2462C>T	c.(2461-2463)tCa>tTa	p.S821L	KALRN_ENST00000428018.2_Missense_Mutation_p.S789L|KALRN_ENST00000360013.3_Missense_Mutation_p.S2518L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATAACAGCTCAGCCACATAC	0.547000													13	48					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75703843	75703843	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:75703843T>C	ENST00000394947.3	-	6	1312	c.998A>G	c.(997-999)cAc>cGc	p.H333R	SIN3A_ENST00000394949.4_Missense_Mutation_p.H333R|SIN3A_ENST00000360439.4_Missense_Mutation_p.H333R	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	333	Interaction with REST (By similarity).|PAH 2.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTGATATGTGTGCAAAATCTC	0.413000													17	113					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46925817	46925817	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:46925817C>T	ENST00000359759.4	+	36	4419	c.4398C>T	c.(4396-4398)ctC>ctT	p.L1466L	COL18A1_ENST00000355480.5_Silent_p.L1231L|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1051L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1466	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCTGGCTCATCTTCGTGG	0.652000													8	67					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300605	110300605	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:110300605T>C	ENST00000414000.2	+	3	574	c.335T>C	c.(334-336)aTc>aCc	p.I112T	GPR6_ENST00000275169.3_Missense_Mutation_p.I97T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	97						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGCGCTCATCGCGTCCACT	0.662000													24	84					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72787117	72787117	+	Silent	SNP	G	G	A	rs144727387		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:72787117G>A	ENST00000335464.5	+	6	531	c.369G>A	c.(367-369)ccG>ccA	p.P123P	TMEM104_ENST00000582330.1_Silent_p.P123P|TMEM104_ENST00000582773.1_Silent_p.P123P|TMEM104_ENST00000417024.2_Silent_p.P136P	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	123						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTCCCAACCCGTTTGAAATCA	0.522000													4	59					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554356	135554356	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:135554356G>A	ENST00000372146.4	+	2	1914	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	450				L -> V (in Ref. 1; AAF05087).	transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGAGGCAGCTGATTCCCATTT	0.468000													12	59					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683867	100683867	+	Missense_Mutation	SNP	C	C	T	rs150107183	byFrequency	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:100683867C>T	ENST00000306151.4	+	3	9234	c.9170C>T	c.(9169-9171)cCa>cTa	p.P3057L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3057	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACGCCAGTGGCCATT	0.498000													33	422					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64640081	64640081	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:64640081C>G	ENST00000498707.1	-	8	1606	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E394Q|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.E422Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	422	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCACTATCTTCACTAATAGAA	0.398000													29	132					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193291	27193291	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:27193291C>T	ENST00000335625.5	+	11	2188	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S	GABRA5_ENST00000355395.5_Missense_Mutation_p.P434S|GABRA5_ENST00000400081.3_Missense_Mutation_p.P434S	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	434					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATCGTATTCCCAGTCTTGTT	0.433000													5	25					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587339	247587339	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:247587339C>A	ENST00000366497.2	+	4	1374	c.594C>A	c.(592-594)agC>agA	p.S198R	NLRP3_ENST00000366496.2_Missense_Mutation_p.S198R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.S198R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S198R|NLRP3_ENST00000336119.3_Missense_Mutation_p.S198R|NLRP3_ENST00000348069.2_Missense_Mutation_p.S198R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	198					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGTGTGAGAGCCCCGTGAGTC	0.587000													3	24					0.004672	0.00480599	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70981594	70981594	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:70981594G>T	ENST00000276594.2	-	2	703	c.502C>A	c.(502-504)Cag>Aag	p.Q168K		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	168					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)			GGTAATAACTGGGAGGTCCTC	0.577000													4	43					0.00909568	0.00931009	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142523320	142523320	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:142523320T>G	ENST00000273482.6	+	11	2291	c.1900T>G	c.(1900-1902)Tgg>Ggg	p.W634G	TRPC1_ENST00000476941.1_Missense_Mutation_p.W668G	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	668					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						AGCAAAATTATGGCTTAGCTA	0.348000													7	47					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6664485	6664485	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:6664485C>T	ENST00000336604.4	-	1	752	c.711G>A	c.(709-711)gaG>gaA	p.E237E	IFFO1_ENST00000396840.2_Silent_p.E237E|IFFO1_ENST00000356896.4_Silent_p.E237E	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	237						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GAGCGCGGATCTCGGGCGTGA	0.647000													22	75					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69561733	69561733	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:69561733G>C	ENST00000374403.3	+	11	1300	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	KIF4A_ENST00000374388.3_Silent_p.L406L	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	406					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCGTGGTCTGAGCGAGGCAG	0.423000													19	50					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129311370	129311370	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:129311370A>G	ENST00000393232.1	+	3	442	c.325A>G	c.(325-327)Aca>Gca	p.T109A	NRF1_ENST00000393230.2_Missense_Mutation_p.T109A|NRF1_ENST00000393231.3_Missense_Mutation_p.T109A|NRF1_ENST00000353868.4_Missense_Mutation_p.T109A|NRF1_ENST00000223190.4_Missense_Mutation_p.T109A|NRF1_ENST00000539636.1_Intron|NRF1_ENST00000311967.2_Missense_Mutation_p.T109A	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	109					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GAGGCAACAAACACGTTTGCT	0.458000													3	31					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99797053	99797053	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:99797053T>A	ENST00000389677.5	-	1	478	c.196A>T	c.(196-198)Acc>Tcc	p.T66S		NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	66																	AAGTAAAGGGTTTTCTTCCAC	0.597000													10	70					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178364367	178364367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:178364367C>T	ENST00000264167.4	+	14	1530	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	462					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TGACCCAAATCAGCTAAGTGT	0.308000													19	62					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285289	28285289	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:28285289C>G	ENST00000373894.3	+	8	1499	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.P388P	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	436					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCACCACGCCCGTGCCCCAGC	0.652000													6	24					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60878754	60878754	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:60878754A>G	ENST00000253003.2	+	2	176	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	44	Interaction with PSMD1.|PH.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GGATAAGCGGAAAGGGCTGGT	0.597000													4	122					0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7529824	7529824	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:7529824C>T	ENST00000269298.5	-	6	673	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.E118K|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000380466.2_5'UTR	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	152	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TGCCAGCCCTCAGCTTCCGTC	0.562000													19	120					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96375563	96375563	+	Silent	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:96375563A>T	ENST00000602402.1	+	3	378	c.261A>T	c.(259-261)tcA>tcT	p.S87S	DNAJC3_ENST00000376795.6_Silent_p.S87S	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	87					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TGGGCAAATCAAAAGCTGCAC	0.343000													10	68					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67477695	67477695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:67477695G>A	ENST00000544246.1	-	3	3770	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Q1027*|PCDH9-AS2_ENST00000419371.2_RNA	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1027					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGACATTTCTGAGGAGTGACA	0.388000													3	41					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934959	30934959	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:30934959G>T	ENST00000355537.3	+	2	637	c.490G>T	c.(490-492)Gac>Tac	p.D164Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCGTACTGCGACCACAGGGC	0.662000													13	42					9.31168e-06	9.91243e-06	1	1	0
HOXD12	3238	broad.mit.edu	37	2	176965482	176965482	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:176965482C>A	ENST00000406506.2	+	2	879	c.807C>A	c.(805-807)ctC>ctA	p.L269L	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	269						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CGCTGGCGCTCTACTAGCCGC	0.597000													5	24					0.014758	0.0149943	1	1	0
ZNF112	7665	broad.mit.edu	37	19	44831693	44831693	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:44831693G>A	ENST00000354340.4	-	4	2668	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.H896Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H879Y	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACTCTTTGATGAATGAGAAGA	0.403000													23	64					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32371544	32371544	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:32371544C>T	ENST00000375200.1	+	12	2091	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	ZNF341_ENST00000342427.2_Missense_Mutation_p.P569S	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCAGGTGTTTCCTTGTGAACG	0.597000													15	96					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27405259	27405259	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:27405259C>T	ENST00000326799.3	-	17	2054	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	YME1L1_ENST00000376016.3_Missense_Mutation_p.E579K|YME1L1_ENST00000375972.3_Missense_Mutation_p.E546K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	636					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTCATTCTCAGGTAACAGG	0.458000													12	44					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917692	65917692	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:65917692C>T	ENST00000261892.6	+	2	1561	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	SLC24A1_ENST00000339868.6_Missense_Mutation_p.S425L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.S425L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.S425L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.S425L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.S425L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	425					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTAGTCCCTCAGTGCTGCCT	0.632000													11	79					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46065659	46065659	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:46065659G>A	ENST00000349995.5	+	10	1193	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	361					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AAATAATAGAGATCACTGTGC	0.388000													4	82					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54404929	54404929	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:54404929G>C	ENST00000040584.4	+	2	730	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	165				E -> Q (in Ref. 6; CAA67997).		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						CTTGGAACTAGAAAAGGAGTT	0.507000													8	45					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249974	110249974	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:110249974G>A	ENST00000374672.4	-	3	1174	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	234	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCGCTCAGCGACGCCTTCAG	0.692000													4	9					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961491	17961491	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:17961491C>T	ENST00000361221.3	+	18	2066	c.1907C>T	c.(1906-1908)tCt>tTt	p.S636F	ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S394F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S631F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S339F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S409F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S597F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S597F	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	636					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAAGGCCTCTGCCTCAGGG	0.652000													4	46					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95543242	95543242	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:95543242G>C	ENST00000297591.5	-	6	631	c.556C>G	c.(556-558)Cca>Gca	p.P186A	KIAA1429_ENST00000421249.2_Missense_Mutation_p.P186A|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P186A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	186	Pro-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGGGGTCCTGGAGGAGTTCTT	0.463000													6	50					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160876702	160876702	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:160876702G>A	ENST00000283243.7	-	8	1573	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S456F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	456	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATGACTGAAGAGTCATTAGA	0.368000													11	77					0	0	1	0	0
OR8G5	219865	broad.mit.edu	37	11	124135413	124135413	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:124135413G>C	ENST00000524943.2	+	1	691	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|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;0.0523)		TTACATTAATGAGTTACTGAT	0.378000													15	103					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	135484	135484	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:135484A>G	ENST00000219431.4	+	5	836	c.605A>G	c.(604-606)aAa>aGa	p.K202R	MPG_ENST00000397817.1_Missense_Mutation_p.K185R	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	202					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ACCCTCCGGAAAGGCACCGCC	0.652000								Base excision repair (BER), DNA glycosylases					4	53					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17264797	17264797	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:17264797A>G	ENST00000595618.1	+	5	1171	c.1019A>G	c.(1018-1020)tAt>tGt	p.Y340C	MYO9B_ENST00000594824.1_Missense_Mutation_p.Y340C|MYO9B_ENST00000397274.2_Missense_Mutation_p.Y340C|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	340	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTGTTTTATTATTTGTTACTT	0.443000													7	91					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328804	38328804	+	Splice_Site	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:38328804G>C	ENST00000215957.6	+	12	2269		c.e12-1		MICALL1_ENST00000402631.1_Splice_Site	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1							cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGGCTTCCAGAGGGCCGTGA	0.632000													10	18					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528861	76528861	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:76528861G>T	ENST00000307431.8	+	15	2517	c.2132G>T	c.(2131-2133)tGg>tTg	p.W711L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.W663L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.W639L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.W715L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	712	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAAACCTACTGGGGAGGTTCT	0.423000													28	92					2.48779e-11	2.77731e-11	1	1	0
DFNB31	25861	broad.mit.edu	37	9	117166223	117166223	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:117166223T>C	ENST00000362057.3	-	10	2539	c.2371A>G	c.(2371-2373)Aag>Gag	p.K791E	DFNB31_ENST00000265134.6_Missense_Mutation_p.K408E|DFNB31_ENST00000374059.3_Missense_Mutation_p.K440E	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	791					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCAGCTCCTTGCTACTCCTG	0.652000													4	120					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28280900	28280900	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:28280900G>A	ENST00000373894.3	+	5	744	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.G185R|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G137R	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	185					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGGTCCCAGCGGGGCTGGGCG	0.607000													17	133					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50118178	50118178	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:50118178C>T	ENST00000299192.7	+	9	1457	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Silent_p.L336L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	422							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACACGGCTCTCACCAACTACC	0.468000													22	34					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63256350	63256350	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:63256350G>A	ENST00000540857.1	-	3	470	c.338C>T	c.(337-339)gCa>gTa	p.A113V	HRASLS5_ENST00000301790.4_Missense_Mutation_p.A123V|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A123V	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	123										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TACCTCAGCTGCTTGCTTTAT	0.428000													15	123					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374170	33374170	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:33374170C>T	ENST00000428849.2	+	8	2184	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	578	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTTAGCCCTCGGCCCCGGGG	0.647000													21	84					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32608657	32608657	+	Missense_Mutation	SNP	G	G	T	rs140607449		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:32608657G>T	ENST00000531120.1	+	2	205	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	EIF3M_ENST00000524896.1_Intron|EIF3M_ENST00000532054.1_3'UTR	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	48						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AATTATTGAAGCCTGTGATGT	0.333000													25	115					8.24728e-16	9.34617e-16	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50951611	50951611	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:50951611G>A	ENST00000357701.5	+	13	1487	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	479	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCGAGGTGCGGCCCAGCAAG	0.552000													13	120					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17600958	17600958	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:17600958C>T	ENST00000377813.1	-	18	3868	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	RRBP1_ENST00000360807.4_Missense_Mutation_p.E756K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E756K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E530K|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1189K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1189					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCCGAACTTTCAAGTTCTCCT	0.498000													32	182					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026887	76026887	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:76026887G>A	ENST00000275560.3	-	6	1163	c.816C>T	c.(814-816)ggC>ggT	p.G272G	ZP3_ENST00000336517.4_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	272	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCACACCCCAGCCCAGGCTCT	0.731000													4	9					0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111168406	111168406	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:111168406C>G	ENST00000335007.5	-	3	536	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	PPP1CC_ENST00000550991.1_Missense_Mutation_p.E116Q|PPP1CC_ENST00000340766.5_Missense_Mutation_p.E116Q|PPP1CC_ENST00000551676.1_Missense_Mutation_p.E116Q|PPP1CC_ENST00000546933.1_Missense_Mutation_p.E125Q	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	116					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AAAAAATTCTCAGGATATTTT	0.388000													30	105					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12126761	12126761	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12126761C>G	ENST00000419886.2	-	5	1107	c.816G>C	c.(814-816)gaG>gaC	p.E272D	ZNF433_ENST00000344980.6_Missense_Mutation_p.E307D|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CATATGGCTTCTCCCCCGTGT	0.433000													5	61					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Missense_Mutation	SNP	G	G	A	rs150835407		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:3842924G>A	ENST00000358134.6	+	3	316	c.316G>A	c.(316-318)Gct>Act	p.A106T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000428216.2_Silent_p.T163T			Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	107	Pro-rich.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|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|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587000													4	53					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3188462	3188462	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:3188462G>T	ENST00000396878.3	+	3	918	c.443G>T	c.(442-444)gGa>gTa	p.G148V	ZNF213_ENST00000574902.1_Missense_Mutation_p.G148V|ZNF213_ENST00000416391.2_Missense_Mutation_p.D15Y|ZNF213_ENST00000576416.1_Missense_Mutation_p.G148V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	148					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GCAGGCCGGGGATCCCAGGCC	0.677000													15	39					3.27435e-08	3.59221e-08	1	1	0
DHCR7	1717	broad.mit.edu	37	11	71152279	71152279	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:71152279C>T	ENST00000355527.3	-	6	896	c.620G>A	c.(619-621)aGa>aAa	p.R207K	DHCR7_ENST00000407721.2_Missense_Mutation_p.R207K	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	207					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ATACCAGTCTCTGGCGCTGGT	0.567000									Smith-Lemli-Opitz syndrome				8	33					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20200324	20200324	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:20200324C>G	ENST00000395530.2	+	11	2956	c.2748C>G	c.(2746-2748)ttC>ttG	p.F916L	SPECC1_ENST00000536879.1_Missense_Mutation_p.F337L|SPECC1_ENST00000261503.5_Missense_Mutation_p.F997L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.F997L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	997						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCCTGGCCTTCTGTGCTCTGC	0.498000													35	39					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64674210	64674210	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:64674210G>A	ENST00000421419.2	-	20	3024	c.2910C>T	c.(2908-2910)gtC>gtT	p.V970V	ATG2A_ENST00000377264.3_Silent_p.V970V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	970							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGTACTGGGAGACGCTGAAGA	0.617000													9	55					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33264044	33264044	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:33264044C>G	ENST00000497454.1	-	6	1024	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.E95Q|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	177	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCTTGGCCTCAGAGCCAAAA	0.577000													9	128					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873494	43873494	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:43873494C>T	ENST00000420765.1	-	9	1052	c.870G>A	c.(868-870)gaG>gaA	p.E290E	PPIP5K1_ENST00000381879.4_Silent_p.E290E|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Silent_p.E290E|PPIP5K1_ENST00000360135.4_Silent_p.E290E|PPIP5K1_ENST00000334933.4_Silent_p.E290E|PPIP5K1_ENST00000360301.4_Silent_p.E290E|PPIP5K1_ENST00000396923.3_Silent_p.E290E|PPIP5K1_ENST00000381885.1_Silent_p.E290E	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	290					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GATATCGAATCTCTTTCCCCT	0.512000													9	146					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122037	90122037	+	RNA	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:90122037C>T	ENST00000483379.1	+	0	436																											CAAGGTTCAGCGGCAGTGGAT	0.473000													23	90					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34162716	34162716	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:34162716G>C	ENST00000257829.3	+	25	2879	c.2673G>C	c.(2671-2673)ttG>ttC	p.L891F	NAT10_ENST00000531159.2_Missense_Mutation_p.L819F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	891	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CGGGCCAGTTGATGGGACTTT	0.522000													18	138					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417757	46417757	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:46417757G>A	ENST00000341294.2	-	1	279	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	65					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		TGTGCTTGCAGAAGTTGCACA	0.662000													9	43					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184021746	184021746	+	Silent	SNP	T	T	C	rs149124368		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:184021746T>C	ENST00000310118.4	+	11	1893	c.1335T>C	c.(1333-1335)ctT>ctC	p.L445L	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.L286L|PSMD2_ENST00000439383.1_Silent_p.L315L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	445					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CAGGAGCTCTTCTTGCCTGTG	0.507000													16	101					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283791	152283791	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:152283791A>T	ENST00000368799.1	-	3	3606	c.3571T>A	c.(3571-3573)Tca>Aca	p.S1191T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1191	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGACCCTGAGTGTCCAGAT	0.567000									Ichthyosis				48	412					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96864617	96864617	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:96864617C>A	ENST00000555570.1	+	2	333	c.311C>A	c.(310-312)tCt>tAt	p.S104Y	AK7_ENST00000554313.1_Intron|AK7_ENST00000267584.4_Intron			Q96M32	KAD7_HUMAN	adenylate kinase 7	0					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCCGGAGGCTCTGGCCAGGAG	0.577000													8	33					0.307466	0.308964	1	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865855	140865855	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:140865855T>C	ENST00000306593.1	+	1	1115	c.1115T>C	c.(1114-1116)aTc>aCc	p.I372T	PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCACTTATCAGTGTGCAG	0.542000													4	53					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46295603	46295603	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:46295603G>T	ENST00000270223.6	-	1	457	c.412C>A	c.(412-414)Cca>Aca	p.P138T	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.P138T	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	138					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCAGCCTGGGTAGAAATAG	0.692000													3	10					2.56e-06	2.75718e-06	1	1	0
DMRT1	1761	broad.mit.edu	37	9	916855	916855	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:916855C>A	ENST00000382276.3	+	4	1064	c.915C>A	c.(913-915)ccC>ccA	p.P305P	DMRT1_ENST00000569227.1_Silent_p.P147P	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	305					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGAGCGTGCCCCAGTTCTTCA	0.552000													17	74					1.56452e-12	1.7561e-12	1	1	0
IL31	386653	broad.mit.edu	37	12	122658533	122658533	+	Missense_Mutation	SNP	G	G	A	rs143062271	byFrequency	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:122658533G>A	ENST00000377035.1	-	2	49	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	8						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CACAGACGTCGAGGGGCCTGG	0.597000													11	45					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297991	62297991	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:62297991C>G	ENST00000378024.4	-	5	4172	c.3898G>C	c.(3898-3900)Gag>Cag	p.E1300Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1300					nervous system development	nucleus	protein binding	p.E1300K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCGGGCCCTCAAGGCTCACA	0.532000													5	303					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243327642	243327642	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:243327642G>C	ENST00000366542.1	-	13	3671	c.3620C>G	c.(3619-3621)tCt>tGt	p.S1207C	CEP170_ENST00000366544.1_Missense_Mutation_p.S1109C|CEP170_ENST00000366543.1_Missense_Mutation_p.S1109C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1207	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGAGAGTCGAGAGATACTGTT	0.423000													3	32					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641866	57641866	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57641866G>C	ENST00000254181.4	+	4	2277	c.1823G>C	c.(1822-1824)aGa>aCa	p.R608T	USP29_ENST00000598197.1_Missense_Mutation_p.R608T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	608					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATTCCAGAGAGACTGTGGA	0.488000													11	29					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185310037	185310037	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:185310037G>C	ENST00000393593.3	-	9	1132	c.925C>G	c.(925-927)Caa>Gaa	p.Q309E		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	309					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGGAGGTCTTGAAAAGGGGGC	0.582000													8	50					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6175047	6175047	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:6175047T>C	ENST00000264870.3	-	12	1778	c.1513A>G	c.(1513-1515)Aag>Gag	p.K505E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	505					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGAGGGGCTTTTTAGCTCCG	0.463000													12	75					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76110031	76110031	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:76110031G>C	ENST00000324432.5	+	4	715	c.205G>C	c.(205-207)Gac>Cac	p.D69H	DTX2_ENST00000430490.2_Missense_Mutation_p.D69H|DTX2_ENST00000307569.8_Missense_Mutation_p.D69H|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Missense_Mutation_p.D69H|DTX2_ENST00000446820.2_Missense_Mutation_p.D69H	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	69	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGGCCAGGCAGACCCCTCGCT	0.617000													10	42					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703580	4703580	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:4703580C>T	ENST00000396950.3	-	2	601	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAACGGTCAAAGGC	0.537000													5	41					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602466	48602466	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:48602466G>T	ENST00000340553.3	+	7	1441	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	394					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCAAGAAATTGATGAGGAGCT	0.433000													5	22					0.000602214	0.0006281	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30744953	30744953	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:30744953C>T	ENST00000262518.4	+	29	6713	c.6328C>T	c.(6328-6330)Cgc>Tgc	p.R2110C	SRCAP_ENST00000344771.4_Missense_Mutation_p.R1952C|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2048C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2110	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCAGACAAACGCATATTCTG	0.478000													17	82					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234357967	234357967	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:234357967G>A	ENST00000264057.2	+	15	1845	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	DGKD_ENST00000409813.3_Silent_p.L567L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	611					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCTCATGCTGAGAGCCAACA	0.572000											OREG0015296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	35					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119740	3119740	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:3119740T>C	ENST00000304094.1	+	1	826	c.826T>C	c.(826-828)Tac>Cac	p.Y276H		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACTGTAATGTACACGGCAGT	0.463000													23	136					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311052	84311052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:84311052G>C	ENST00000428679.2	-	16	1855	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	SNAP91_ENST00000439399.2_Nonsense_Mutation_p.S421*|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.S419*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.S421*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.S421*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.S421*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.S421*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	421	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGCAGAAGCTGAGGCAGTTGC	0.463000													5	16					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058972	11058972	+	Silent	SNP	C	C	T	rs142007193		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:11058972C>T	ENST00000287766.4	+	3	496	c.75C>T	c.(73-75)gaC>gaT	p.D25D	SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	25					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGGCCAATGACAAGCCCAAAA	0.632000													4	63					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544334	31544334	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:31544334C>T	ENST00000449264.2	+	2	385	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	70					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCTCTCTAATCAGCCCTCTGG	0.542000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				20	122					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7174717	7174717	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:7174717G>C	ENST00000381309.3	+	22	3724	c.3159G>C	c.(3157-3159)caG>caC	p.Q1053H	KDM4C_ENST00000442236.2_Missense_Mutation_p.Q798H|KDM4C_ENST00000428870.2_Missense_Mutation_p.Q740H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1053					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTGCCAGAAGAGACAGT	0.493000													28	163					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833723	61833723	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:61833723G>C	ENST00000370339.3	-	4	1910	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.I473M	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	523	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTAGGAACTGATAATTTTCA	0.537000													14	94					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273356	26273356	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:26273356C>G	ENST00000377733.2	+	1	213	c.153C>G	c.(151-153)ccC>ccG	p.P51P		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	51					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGGTCCACCCCGACACCGGCA	0.567000													69	318					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15724939	15724939	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:15724939C>G	ENST00000380701.3	+	14	1985	c.1657C>G	c.(1657-1659)Cag>Gag	p.Q553E	CCDC171_ENST00000297641.3_Missense_Mutation_p.Q553E	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	553																	AAGTGAACTGCAGAAGCTTTC	0.448000													16	89					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793058	31793058	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:31793058C>A	ENST00000396193.1	-	19	2843	c.2250G>T	c.(2248-2250)ctG>ctT	p.L750L	PDE1C_ENST00000321453.7_Silent_p.L690L|PDE1C_ENST00000396191.1_Silent_p.L690L	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	690					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCCTCTGATCCAGCATCTTGT	0.453000													18	184					6.49762e-13	7.31315e-13	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139286436	139286436	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:139286436T>C	ENST00000298532.2	-	9	1301	c.933A>G	c.(931-933)gcA>gcG	p.A311A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	311	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)		GGTGGCCGTGTGCAGCCGCGA	0.652000													11	84					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25983672	25983672	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:25983672C>A	ENST00000357085.3	+	8	1631	c.1155C>A	c.(1153-1155)ctC>ctA	p.L385L	TRIM38_ENST00000349458.3_Silent_p.L385L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	385	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCTGGACCCTCAGGCTGTGCA	0.498000													13	117					4.93089e-13	5.55736e-13	1	1	0
NUP188	23511	broad.mit.edu	37	9	131730868	131730868	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:131730868A>G	ENST00000372577.2	+	9	690	c.669A>G	c.(667-669)gcA>gcG	p.A223A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	223					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTTATTATGCATACTTTGAGA	0.433000													10	107					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:27077157G>C	ENST00000263182.3	+	3	548	c.180G>C	c.(178-180)gtG>gtC	p.V60V	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Silent_p.V60V|BBOX1_ENST00000525090.1_Silent_p.V60V|BBOX1_ENST00000529202.1_Silent_p.V60V	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408000													5	36					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779295	135779295	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:135779295C>T	ENST00000375845.3	-	2	158	c.128G>A	c.(127-129)aGc>aAc	p.S43N	MAP3K19_ENST00000392918.3_Missense_Mutation_p.S43N|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S60N|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.S43N|MAP3K19_ENST00000392917.3_Missense_Mutation_p.S43N|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S43N	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTCACTTCTGCTGATGCTTTG	0.373000													3	37					0	0	1	0	0
CCDC117	150275	broad.mit.edu	37	22	29176964	29176964	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:29176964G>A	ENST00000249064.4	+	3	444	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CCDC117_ENST00000448492.2_Missense_Mutation_p.E72K|CCDC117_ENST00000443309.2_5'UTR|CCDC117_ENST00000421503.2_Intron	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	90										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						AAGGATAACTGAAGCAGAGCT	0.378000													23	32					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061864	18061864	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:18061864G>A	ENST00000205890.5	+	52	9333	c.8995G>A	c.(8995-8997)Gac>Aac	p.D2999N	MYO15A_ENST00000418233.3_Missense_Mutation_p.D263N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2999	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCTCTGCTGACCATGGGGA	0.637000													15	69					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568555	223568555	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:223568555G>C	ENST00000366875.3	+	1	1841	c.1738G>C	c.(1738-1740)Gac>Cac	p.D580H		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	580										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAAGGGAAAGACCCAAACTT	0.532000													5	43					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77880434	77880434	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:77880434G>C	ENST00000380835.2	-	2	358	c.192C>G	c.(190-192)ctC>ctG	p.L64L	NOXRED1_ENST00000298358.3_Silent_p.L64L	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	64					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGCCAATTGAGAGATGTCTGG	0.438000													6	31					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125515	93125515	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:93125515T>C	ENST00000216487.7	+	7	2195	c.2036T>C	c.(2035-2037)gTa>gCa	p.V679A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	679	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GAAGCAATTGTAGAGTCTGCC	0.537000													68	333					0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795566	149795566	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:149795566C>T	ENST00000389942.5	-	2	361	c.114G>A	c.(112-114)caG>caA	p.Q38Q	ZC3H12D_ENST00000542614.1_Silent_p.Q38Q|ZC3H12D_ENST00000409806.3_Silent_p.Q38Q|ZC3H12D_ENST00000416573.2_Silent_p.Q38Q|ZC3H12D_ENST00000409948.1_Silent_p.Q38Q			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	38						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GGATAAGCTCCTGCAGCACGT	0.682000													3	24					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432533	45432533	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:45432533G>A	ENST00000361462.2	+	1	1092	c.909G>A	c.(907-909)ctG>ctA	p.L303L	FAM179B_ENST00000361577.3_Silent_p.L303L|FAM179B_ENST00000382233.2_Silent_p.L303L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	303							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTCTGCCCTGAGGAGACACT	0.488000													14	67					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855693	140855693	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:140855693G>C	ENST00000308177.3	+	1	114	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTCCCAGAGGCCTGGAG	0.562000													17	73					0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6559516	6559516	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:6559516G>C	ENST00000266557.3	+	3	675	c.446G>C	c.(445-447)aGt>aCt	p.S149T	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	149					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCTTATGTCAGTGGTAAGTTC	0.577000													10	48					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401787	10401787	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:10401787G>A	ENST00000397077.1	-	12	2120	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	ATP2B2_ENST00000352432.4_Silent_p.A560A|ATP2B2_ENST00000360273.2_Silent_p.A560A|ATP2B2_ENST00000343816.4_Silent_p.A546A|ATP2B2_ENST00000383800.4_Silent_p.A515A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	560					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGAGGCAGGGCGCCCTCCT	0.687000													12	79					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186141165	186141165	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:186141165G>A	ENST00000271588.4	+	102	15945	c.15716G>A	c.(15715-15717)tGc>tAc	p.C5239Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5239Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5239	EGF-like 4; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAATGTATGCAGACCAGAT	0.358000													9	97					0	0	1	0	0
NFYB	4801	broad.mit.edu	37	12	104513519	104513519	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:104513519G>A	ENST00000240055.3	-	8	847	c.620C>T	c.(619-621)tCa>tTa	p.S207L	NFYB_ENST00000551727.1_Missense_Mutation_p.S207L	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	207	C domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCAGATCATGAAAACTGAAT	0.323000													3	39					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148563270	148563270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:148563270G>T	ENST00000491148.1	+	10	1172	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.E280*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	280					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGCAGAGTCTGAAAAGGAGAC	0.468000													11	54					3.07112e-06	3.29905e-06	1	1	0
SLC25A23	79085	broad.mit.edu	37	19	6452348	6452348	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:6452348G>T	ENST00000301454.4	-	8	1152	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	SLC25A23_ENST00000334510.5_Missense_Mutation_p.A349E|SLC25A23_ENST00000414491.2_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	349					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCGATGCCCGCATAGGGGAT	0.657000													4	15					0.00116845	0.00121101	1	1	0
SFMBT1	51460	broad.mit.edu	37	3	52945041	52945041	+	Silent	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:52945041A>C	ENST00000394752.3	-	17	2266	c.1884T>G	c.(1882-1884)tcT>tcG	p.S628S	SFMBT1_ENST00000296295.6_Silent_p.S628S|SFMBT1_ENST00000358080.2_Silent_p.S628S|SFMBT1_ENST00000394750.1_Silent_p.S628S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	628					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTGTAAGTACAGAACAGTTCT	0.418000													16	45					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590813	125590813	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:125590813C>G	ENST00000504087.1	-	4	4656	c.3619G>C	c.(3619-3621)Gat>Cat	p.D1207H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D1028H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1207	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAAAGCTATCAATTGGCACT	0.403000													8	86					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741875	60741875	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:60741875C>A	ENST00000261520.4	-	10	1525	c.1291G>T	c.(1291-1293)Gct>Tct	p.A431S	NARG2_ENST00000439632.1_Missense_Mutation_p.A294S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	431						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GCTGTAGGAGCATCTGTCATG	0.423000													14	97					2.61681e-11	2.91739e-11	1	1	0
PSG2	5670	broad.mit.edu	37	19	43585208	43585208	+	Silent	SNP	G	G	A	rs148293206	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:43585208G>A	ENST00000406487.1	-	2	353	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	85	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.D85D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443000													57	73					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103436491	103436491	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:103436491G>C	ENST00000361246.2	-	14	2280	c.1992C>G	c.(1990-1992)ctC>ctG	p.L664L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	664					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCACTACCTTGAGGGCCTCCA	0.557000													5	35					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858636	149858636	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:149858636G>C	ENST00000331380.2	+	1	112	c.112G>C	c.(112-114)Ggc>Cgc	p.G38R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	38					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTGCGCAAAGGCAACTACGC	0.711000													5	134					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171680	51171680	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:51171680C>T	ENST00000293441.1	-	22	3555	c.3537G>A	c.(3535-3537)gcG>gcA	p.A1179A	SHANK1_ENST00000391814.1_Silent_p.A1187A|SHANK1_ENST00000391813.1_Silent_p.A566A|SHANK1_ENST00000359082.3_Silent_p.A1170A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1179					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGGGGGGCTCCGCCTCGGTGC	0.756000													11	36					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884017	228884017	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:228884017C>G	ENST00000392056.3	-	7	1599	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R518T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	518						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)		CATTTTGAGTCTTTCTGTGGC	0.522000													6	35					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790740	19790740	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:19790740A>C	ENST00000592502.1	+	4	1052	c.942A>C	c.(940-942)aaA>aaC	p.K314N	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K194N			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AATGTCAAAAATGTGCCAAAG	0.413000													5	39					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570248	241570248	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:241570248C>T	ENST00000319838.5	+	6	1821	c.879C>T	c.(877-879)ccC>ccT	p.P293P	GPR35_ENST00000407714.1_Silent_p.P293P|GPR35_ENST00000430267.1_Silent_p.P293P|GPR35_ENST00000438013.2_Silent_p.P324P|GPR35_ENST00000403859.1_Silent_p.P293P	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	293						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCGTGGCTCCCAGTGCTAAGG	0.627000													10	87					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49927494	49927494	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:49927494C>T	ENST00000296474.3	-	19	3838		c.e19-1		MST1R_ENST00000344206.4_Splice_Site	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)						cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAATGACCACTGTGGAAAGG	0.597000													4	34					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462851	70462851	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:70462851C>T	ENST00000373998.1	-	22	4177	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	ZMYM3_ENST00000353904.2_Silent_p.L1172L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.L1172L|ZMYM3_ENST00000373988.1_Silent_p.L1174L|ZMYM3_ENST00000373984.3_Silent_p.L1167L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1172					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCCAGGTACTCAGAGACTTGT	0.488000													8	33					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12126024	12126024	+	Missense_Mutation	SNP	C	C	T	rs139741858	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12126024C>T	ENST00000419886.2	-	5	1844	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	ZNF433_ENST00000344980.6_Missense_Mutation_p.G553E|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GTGAGTCCTTCCATGAATTTG	0.458000													26	130					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672109	126672109	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:126672109C>G	ENST00000359653.4	+	8	2131	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	587	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GGCCACTTCTCTGCTTTGGTT	0.463000													9	75					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628222	46628222	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:46628222C>T	ENST00000470495.1	-	2	2217	c.770G>A	c.(769-771)gGg>gAg	p.G257E	HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.G123E|HOXB3_ENST00000311626.4_Missense_Mutation_p.G257E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G184E|HOXB3_ENST00000485909.2_Missense_Mutation_p.G125E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G184E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G257E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G257E|HOXB3_ENST00000460160.1_Missense_Mutation_p.G125E|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	257					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGATGGGCCCCCCGACGACGA	0.637000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	96					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873546	88873546	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:88873546C>G	ENST00000301019.4	+	8	1829	c.1210C>G	c.(1210-1212)Cca>Gca	p.P404A		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	404					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GGCTACCCCACCAGCCACCCC	0.697000													7	28					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003394	41003394	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:41003394C>G	ENST00000308423.2	+	1	194	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	12					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTCCTCATTCTGGCCGTCAT	0.547000													28	141					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999385	27999385	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:27999385G>T	ENST00000441525.1	-	1	181	c.67C>A	c.(67-69)Cca>Aca	p.P23T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	23										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						TGCTCCTCTGGGCTGCTGAAC	0.562000													7	22					1.06961e-07	1.17033e-07	1	1	0
FAM129C	199786	broad.mit.edu	37	19	17644437	17644437	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:17644437G>A	ENST00000335393.4	+	5	585	c.447G>A	c.(445-447)ctG>ctA	p.L149L	FAM129C_ENST00000595684.1_Silent_p.L149L|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Silent_p.L118L|FAM129C_ENST00000601861.1_Silent_p.L118L|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000332386.5_Silent_p.L149L|FAM129C_ENST00000599124.1_Silent_p.L118L|FAM129C_ENST00000352727.3_Silent_p.L149L|FAM129C_ENST00000600871.1_Silent_p.L95L|FAM129C_ENST00000300971.2_Silent_p.L149L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	149										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAACAGCCCTGACAGGATACA	0.552000													10	65					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551509	1551509	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:1551509T>A	ENST00000381605.4	-	4	1090	c.1026A>T	c.(1024-1026)aaA>aaT	p.K342N	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	342	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGGCATAGCTTTTGCTGACTG	0.512000													11	152					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148586589	148586589	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:148586589C>T	ENST00000340855.6	-	1	288	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	IDS_ENST00000541269.1_Intron|IDS_ENST00000427113.2_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.E27K|IDS_ENST00000370441.4_Missense_Mutation_p.E27K|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.E27K	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	27						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCTGCGTTTCGGATCCGAGG	0.652000													16	24					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132184539	132184539	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:132184539C>T	ENST00000374786.1	+	6	1355	c.876C>T	c.(874-876)aaC>aaT	p.N292N	NTM_ENST00000425719.2_Silent_p.N292N|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.N292N|NTM_ENST00000374784.1_Silent_p.N292N|NTM_ENST00000427481.2_Silent_p.N283N|NTM_ENST00000374791.3_Silent_p.N292N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	292	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACTATGGGAACTACACTTGCG	0.488000													11	47					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928609	4928609	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:4928609C>T	ENST00000359350.4	+	1	10	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATGTCTGTTCTCAATAACTC	0.433000													7	40					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795175	71795175	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:71795175A>G	ENST00000258104.3	+	25	2883	c.2606A>G	c.(2605-2607)cAg>cGg	p.Q869R	DYSF_ENST00000409366.1_Missense_Mutation_p.Q870R|DYSF_ENST00000409762.1_Missense_Mutation_p.Q886R|DYSF_ENST00000409651.1_Missense_Mutation_p.Q901R|DYSF_ENST00000409744.1_Missense_Mutation_p.Q856R|DYSF_ENST00000410020.3_Missense_Mutation_p.Q887R|DYSF_ENST00000394120.2_Missense_Mutation_p.Q870R|DYSF_ENST00000429174.2_Missense_Mutation_p.Q869R|DYSF_ENST00000410041.1_Missense_Mutation_p.Q887R|DYSF_ENST00000413539.2_Missense_Mutation_p.Q900R|DYSF_ENST00000409582.3_Missense_Mutation_p.Q886R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	869						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						GAGTTCAACCAGTTTGCTGAG	0.597000													13	58					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281222	54281222	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:54281222G>A	ENST00000381405.4	-	1	269	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Missense_Mutation_p.R42C	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	42	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CTCTTGCAGCGCGGGCTGCTT	0.612000													9	36					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756828	94756828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:94756828G>A	ENST00000554723.1	-	2	641	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	SERPINA10_ENST00000393096.1_Nonsense_Mutation_p.Q35*|SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.Q35*|SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.Q35*			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	35					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCTGGTTCTGAGGGGCTGGG	0.632000													5	23					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907422	12907422	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:12907422C>T	ENST00000317869.6	-	2	946	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCACCCCCCTCAGACTCCATC	0.488000													11	84					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246105	33246105	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:33246105C>T	ENST00000451237.1	+	1	1189	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	303					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GAGGAGGCCTCGCCCCAACAC	0.617000													12	92					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271032	9271032	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:9271032C>T	ENST00000247956.6	+	7	1016	c.711C>T	c.(709-711)ctC>ctT	p.L237L	ZNF317_ENST00000360385.3_Silent_p.L205L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCGCGTCCCTCACACGGCACA	0.572000													5	58					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600593	80600593	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:80600593G>T	ENST00000254037.2	+	1	3172	c.17G>T	c.(16-18)cGa>cTa	p.R6L	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.R6L|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.R6L|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.R6L			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	6							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AGGTGGGCCCGAGTTAGTACC	0.428000													7	87					8.12818e-05	8.54236e-05	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115421656	115421656	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:115421656C>G	ENST00000337530.6	+	4	1754	c.1458C>G	c.(1456-1458)gaC>gaG	p.D486E	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D514E	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	486								p.D486D(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GAGGCCTGGACCGCATCCTGA	0.557000													11	43					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183873439	183873439	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:183873439A>T	ENST00000313143.3	+	1	264	c.16A>T	c.(16-18)Atc>Ttc	p.I6F	DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.I6F	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	6	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGAGACCAAGATCATCTACCA	0.731000													3	26					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12571345	12571345	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:12571345G>C	ENST00000444864.1	+	9	1530	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	TSEN2_ENST00000383797.5_Missense_Mutation_p.L390F|TSEN2_ENST00000454502.2_Missense_Mutation_p.L348F|TSEN2_ENST00000284995.6_Missense_Mutation_p.L407F|TSEN2_ENST00000314571.7_Missense_Mutation_p.L381F|TSEN2_ENST00000402228.3_Missense_Mutation_p.L407F|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Missense_Mutation_p.L381F	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	407					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TGGCTGCCTTGAGCAGAGTTT	0.403000													40	54					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116066	175116066	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:175116066G>A	ENST00000239462.4	+	19	3872		c.e19-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						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)		TTTTTTGGTAGGGGGTGAACT	0.453000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	65					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31137218	31137218	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:31137218G>C	ENST00000332585.6	+	2	819	c.715G>C	c.(715-717)Gac>Cac	p.D239H	OSBP2_ENST00000403222.3_Missense_Mutation_p.D74H|OSBP2_ENST00000382310.3_Missense_Mutation_p.D239H|OSBP2_ENST00000446658.2_Missense_Mutation_p.D239H|OSBP2_ENST00000407373.1_Missense_Mutation_p.D66H	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	239	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGACACGGAGGACTCTTGTGG	0.587000													15	27					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53621517	53621517	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:53621517G>A	ENST00000342160.3	-	30	3902	c.3445C>T	c.(3445-3447)Ccc>Tcc	p.P1149S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P1149S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P1149S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1149					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGTGGTAGGGATACTTCCTC	0.428000													6	14					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545856	22545856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:22545856C>T	ENST00000424340.1	+	7	1831	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Nonsense_Mutation_p.Q518*	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TTCCGAGCGTCAGCTCACTGC	0.572000													14	329					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823100	38823100	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:38823100G>A	ENST00000303592.3	-	2	1296	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	346					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCGAGCAGCAGGGCGTGCCGG	0.632000													11	27					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815136	137815136	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:137815136G>A	ENST00000367734.2	-	1	395	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCGCCAGCCCGCGAGAGGCTT	0.617000													11	93					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027293	41027293	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:41027293T>G	ENST00000324545.8	+	18	3091	c.2458T>G	c.(2458-2460)Ttt>Gtt	p.F820V	USP9X_ENST00000378308.2_Missense_Mutation_p.F820V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGTCTTGTTTTGATCGTCT	0.368000													11	26					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106820	53106820	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:53106820C>G	ENST00000332582.4	+	2	1508	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	339						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCCAATTGTCTGCTTCCTGC	0.607000													5	20					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51561932	51561932	+	Splice_Site	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:51561932C>A	ENST00000595793.1	-	4	551		c.e4-1		KLK13_ENST00000335422.3_Splice_Site|KLK13_ENST00000595547.1_Splice_Site	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13						proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTAATTCACTGGGGAGAAG	0.438000													30	109					1.55811e-20	1.77547e-20	1	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42158997	42158997	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:42158997C>G	ENST00000444063.1	+	7	992	c.860C>G	c.(859-861)tCc>tGc	p.S287C	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S287C|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S287C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S355C|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S355C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	287					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AATGCCAACTCCCCTGACATT	0.567000													15	130					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386730	15386730	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:15386730G>A	ENST00000376030.2	+	6	1273	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KAZN_ENST00000503743.1_Missense_Mutation_p.E327K|KAZN_ENST00000361144.5_Missense_Mutation_p.E321K|KAZN_ENST00000400798.2_Missense_Mutation_p.E233K|KAZN_ENST00000422387.2_Missense_Mutation_p.E327K|KAZN_ENST00000400797.3_Missense_Mutation_p.E233K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	327	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATCTGCCGCCGAAGGCGACCG	0.667000													14	78					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	31498063	31498063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:31498063G>A	ENST00000520407.1	+	1	793	c.563G>A	c.(562-564)tGg>tAg	p.W188*	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0	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)		CTGGGGACCTGGGGCCACCCC	0.687000													7	13					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4881630	4881630	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:4881630G>A	ENST00000252318.2	+	11	2118	c.1781G>A	c.(1780-1782)aGa>aAa	p.R594K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	594	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCATAAACAGAGATACCAAG	0.522000													12	66					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137717640	137717640	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:137717640G>A	ENST00000371817.3	+	63	5371	c.4957G>A	c.(4957-4959)Gaa>Aaa	p.E1653K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1653	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAATCCAGGTGAATACTGGGT	0.537000													4	35					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108119786	108119786	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:108119786G>C	ENST00000278616.4	+	9	1577	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	ATM_ENST00000452508.2_Missense_Mutation_p.D398H	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	398					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGTAATAAAAGATCACCTTCA	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	53					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739003	138739003	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:138739003C>A	ENST00000329447.5	-	1	765	c.501G>T	c.(499-501)cgG>cgT	p.R167R	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGAGTCCATCCGGAGCTCCG	0.647000													4	31					0.00909568	0.00931009	1	1	0
PAIP2B	400961	broad.mit.edu	37	2	71429644	71429644	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:71429644C>T	ENST00000244221.8	-	2	242	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	26					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						TTTTCCTTTTCATCGTGCCCA	0.403000													13	84					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47254278	47254278	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:47254278G>C	ENST00000296861.2	-	2	543	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	50					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ATGTGCCAATGAGATTCGAGG	0.507000													8	42					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199132	107199132	+	RNA	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:107199132T>C	ENST00000433072.2	-	0	236																											ACCCAGTCCATGTAGTGGTCA	0.587000													29	187					0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913526	64913526	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:64913526C>T	ENST00000277746.6	+	4	593	c.412C>T	c.(412-414)Cca>Tca	p.P138S	NRBF2_ENST00000435510.2_Missense_Mutation_p.P128S	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	138					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGACAGGGATCCAGACACACT	0.473000													16	33					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397084	140397084	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:140397084A>T	ENST00000286349.3	+	1	204	c.13A>T	c.(13-15)Atg>Ttg	p.M5L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	5						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGAAACTGCTATGTGCGTTTG	0.512000													30	181					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40190548	40190548	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:40190548G>C	ENST00000360214.3	+	8	1249	c.789G>C	c.(787-789)ttG>ttC	p.L263F	ETS2_ENST00000360938.3_Missense_Mutation_p.L263F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	263					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GCAGCAACTTGAATTTGCTCA	0.478000													25	154					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19566883	19566883	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:19566883C>T	ENST00000477853.1	-	7	736	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E210K|EMC1_ENST00000375199.3_Missense_Mutation_p.E232K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		AGGACAGCCTCATCCACCACA	0.537000													6	57					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65098405	65098405	+	Silent	SNP	C	C	T	rs61731121		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:65098405C>T	ENST00000371073.2	+	6	768	c.768C>T	c.(766-768)agC>agT	p.S256S	CACHD1_ENST00000495994.1_Intron|CACHD1_ENST00000290039.5_Silent_p.S205S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	256	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCATCCTCAGCGCCATCGATG	0.488000													4	73					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431143	36431143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:36431143C>A	ENST00000588831.1	+	3	1870	c.816C>A	c.(814-816)tgC>tgA	p.C272*	LRFN3_ENST00000246529.3_Nonsense_Mutation_p.C272*			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	272	LRRCT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCGAGGCCTGCGCGTCCCCAC	0.706000													3	16					0.004672	0.00480599	1	1	0
WDR77	79084	broad.mit.edu	37	1	111991326	111991326	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:111991326G>C	ENST00000235090.5	-	2	422	c.216C>G	c.(214-216)ttC>ttG	p.F72L	WDR77_ENST00000411751.2_Missense_Mutation_p.F72L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	72					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGCGGAGCAGAAGCCTTCGT	0.637000													5	43					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135098648	135098648	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:135098648G>C	ENST00000368563.2	-	13	2321	c.1965C>G	c.(1963-1965)ctC>ctG	p.L655L	TUBGCP2_ENST00000417178.2_Silent_p.L525L|TUBGCP2_ENST00000368562.1_Silent_p.L248L|TUBGCP2_ENST00000543663.1_Silent_p.L683L|TUBGCP2_ENST00000252936.3_Silent_p.L655L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	655					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGACGCTGCAGAGCTGCCGCT	0.617000													5	45					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328257	57328257	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57328257G>A	ENST00000326441.9	-	10	1916	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A518V|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A394V|PEG3_ENST00000593695.1_Missense_Mutation_p.A392V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	518					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCCAAGGCGGCACTCTTATT	0.458000													21	123					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45475789	45475789	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:45475789C>T	ENST00000372172.4	-	4	699	c.628G>A	c.(628-630)Gta>Ata	p.V210I		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	210					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GTCGGGGGTACATAGCTAAGC	0.562000													6	44					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90384231	90384231	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:90384231T>C	ENST00000369393.3	-	79	12954	c.12839A>G	c.(12838-12840)cAg>cGg	p.Q4280R	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.Q4280R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4280					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACGCCATCCTGAGGGGGGAA	0.627000													7	17					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616410	248616410	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:248616410C>G	ENST00000342927.3	+	1	334	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATCTTCCTCTACCTGACCC	0.527000													20	208					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120759105	120759105	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:120759105C>G	ENST00000378164.2	-	23	3246	c.2948G>C	c.(2947-2949)aGa>aCa	p.R983T	TAF2_ENST00000519355.1_Intron	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	983					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGGAAGGTCTACTGAGGCC	0.423000													69	85					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233039	233039	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:233039T>C	ENST00000382743.4	-	3	752	c.650A>G	c.(649-651)cAt>cGt	p.H217R	SIRT3_ENST00000525319.1_Missense_Mutation_p.H136R|SIRT3_ENST00000524564.1_Missense_Mutation_p.H153R|SIRT3_ENST00000529382.1_Missense_Mutation_p.H75R|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Missense_Mutation_p.H217R	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	217	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCCCTTGTCATGAAGCAGCCG	0.527000													16	62					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220283311	220283311	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:220283311A>G	ENST00000373960.3	+	1	213	c.127A>G	c.(127-129)Aag>Gag	p.K43E		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	43	Head.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCGGCTCTAAGGGCTCCTC	0.761000													3	13					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027283	41027283	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:41027283T>G	ENST00000324545.8	+	18	3081	c.2448T>G	c.(2446-2448)atT>atG	p.I816M	USP9X_ENST00000378308.2_Missense_Mutation_p.I816M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAGACTTCATTCAGTCTTGTT	0.348000													13	27					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3191833	3191833	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:3191833G>C	ENST00000380989.2	-	16	1889	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L175L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Silent_p.L617L|PITRM1_ENST00000451104.2_Silent_p.L585L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	585					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGCTGCAGAAGAGGGGCACAT	0.522000													30	94					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27733005	27733005	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:27733005A>G	ENST00000261588.4	+	14	1751	c.1732A>G	c.(1732-1734)Aca>Gca	p.T578A	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	578										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAATTACTGGACAGCTGATGG	0.507000													7	40					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7030904	7030904	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:7030904C>G	ENST00000535366.1	+	8	1652	c.1026C>G	c.(1024-1026)ctC>ctG	p.L342L	ENO2_ENST00000545045.2_Silent_p.L223L|ENO2_ENST00000538763.1_Silent_p.L299L|ENO2_ENST00000229277.1_Silent_p.L342L|ENO2_ENST00000541477.1_Silent_p.L342L|ENO2_ENST00000544774.1_Silent_p.L299L			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	342					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTCTGCTGCTCAAGGTCAACC	0.522000													5	34					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80210370	80210370	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:80210370C>T	ENST00000314028.6	-	5	1025	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	CSNK1D_ENST00000398519.5_Missense_Mutation_p.E226K|CSNK1D_ENST00000392334.2_Missense_Mutation_p.E226K|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	226	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CTAATCCTTTCGTATTTCTGT	0.522000													25	96					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544220	23544220	+	Missense_Mutation	SNP	C	C	T	rs12976753		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:23544220C>T	ENST00000300619.7	-	4	1766	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ZNF91_ENST00000397082.2_Missense_Mutation_p.E489K|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	521			E -> K (in dbSNP:rs12976753).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCAAATTTGTAG	0.353000													10	64					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464170	70464170	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:70464170C>T	ENST00000373998.1	-	20	3923	c.3226G>A	c.(3226-3228)Gat>Aat	p.D1076N	ZMYM3_ENST00000353904.2_Missense_Mutation_p.D1088N|ZMYM3_ENST00000489332.1_Intron|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D1088N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D1090N|ZMYM3_ENST00000373984.3_Intron	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1088					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGCAGCTCATCACCCTTGCTG	0.562000													9	17					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10532452	10532452	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:10532452G>A	ENST00000377038.3	-	1	131	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	DFFA_ENST00000377036.2_Silent_p.L22L	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	22	CIDE-N.				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CGGCGCAGCAGACACGGCTTT	0.662000													5	68					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139819006	139819006	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:139819006C>T	ENST00000397560.2	-	9	1250	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	JHDM1D_ENST00000006967.5_Missense_Mutation_p.E385K	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		385	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGCCTTTTCTCCATCTCATAA	0.308000													14	61					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2560638	2560638	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:2560638G>T	ENST00000358864.1	+	7	785	c.770G>T	c.(769-771)cGa>cTa	p.R257L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	257						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATCTTTCTCCGATGGATGTAT	0.393000													6	97					0.00116845	0.00121101	1	1	0
TRNT1	51095	broad.mit.edu	37	3	3189367	3189367	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:3189367T>C	ENST00000251607.6	+	7	1138	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	TRNT1_ENST00000280591.6_Missense_Mutation_p.Y326H	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	346					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATTGAAACCCTATCAAGACTT	0.299000													3	84					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46829667	46829667	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:46829667C>G	ENST00000529230.1	-	8	938	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	CKAP5_ENST00000312055.5_Missense_Mutation_p.E298Q|CKAP5_ENST00000415402.1_Missense_Mutation_p.E298Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E298Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	298					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						TCCAGGGCCTCTTTTCTCTCT	0.373000													27	156					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484467	43484467	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:43484467C>G	ENST00000395891.2	+	11	2301	c.1696C>G	c.(1696-1698)Ctg>Gtg	p.L566V	HECW1_ENST00000453890.1_Missense_Mutation_p.L566V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATCCACACCCTGCTGCACAG	0.692000													9	41					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114604637	114604637	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:114604637C>G	ENST00000379611.5	-	9	1776	c.1489G>C	c.(1489-1491)Gaa>Caa	p.E497Q	CCDC112_ENST00000395557.4_Missense_Mutation_p.E414Q|CCDC112_ENST00000512261.1_Missense_Mutation_p.E414Q|CCDC112_ENST00000506442.1_Missense_Mutation_p.E382Q	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	414										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGGTTCGTTCTTCCCAACCT	0.363000													5	54					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34042950	34042950	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:34042950T>C	ENST00000382065.3	-	1	987	c.281A>G	c.(280-282)cAg>cGg	p.Q94R	RP11-1084J3.4_ENST00000382079.3_Intron|C1QTNF3_ENST00000231338.7_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0	Collagen-like.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TGTGGTGATCTGGGCTAGGTC	0.433000													30	123					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100403934	100403934	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:100403934A>T	ENST00000281806.2	-	2	404	c.90T>A	c.(88-90)agT>agA	p.S30R	MCHR2_ENST00000369212.2_Missense_Mutation_p.S30R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TATCTACCACACTGGCAGTTT	0.408000													8	60					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58504131	58504131	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:58504131C>T	ENST00000269127.4	+	4	466	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	128										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			AAAGCAGCTTCGCCGACTTTA	0.602000													4	19					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183439740	183439740	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:183439740C>T	ENST00000305135.5	+	5	548	c.353C>T	c.(352-354)tCa>tTa	p.S118L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	118					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTTTGGAATCACCATCTAGG	0.343000													15	101					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890248	70890248	+	Splice_Site	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:70890248G>C	ENST00000322773.4	+	43	2814	c.2712G>C	c.(2710-2712)ccG>ccC	p.P904P	COL19A1_ENST00000393344.1_Splice_Site_p.P526P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	904	Triple-helical region 5 (COL5).				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						CAGGGGAACCGGTGAGTTGGC	0.448000													3	33					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609470	47609470	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:47609470G>A	ENST00000371891.3	+	6	703	c.672G>A	c.(670-672)ctG>ctA	p.L224L	CYP4A22_ENST00000294337.3_Silent_p.L224L|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	224						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTAGTGACCTGAACAGCCTGG	0.542000													5	63					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726356	31726356	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:31726356G>A	ENST00000493662.2	+	14	1282	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	MSH5_ENST00000375755.3_Missense_Mutation_p.R392H|MSH5_ENST00000431848.2_Missense_Mutation_p.R91H|MSH5_ENST00000534153.4_Missense_Mutation_p.R409H|MSH5_ENST00000375740.3_Missense_Mutation_p.R409H|MSH5_ENST00000375750.3_Missense_Mutation_p.R392H|MSH5_ENST00000395853.1_Missense_Mutation_p.R66H|MSH5_ENST00000375742.3_Missense_Mutation_p.R409H|MSH5_ENST00000375703.3_Missense_Mutation_p.R392H																							GCTGAAAATCGCTTCACAGTC	0.537000													12	46					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508368	123508368	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:123508368T>C	ENST00000223026.4	+	3	679	c.41T>C	c.(40-42)gTt>gCt	p.V14A	HYAL4_ENST00000476325.1_Missense_Mutation_p.V14A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	14					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTGTGTTGTTCAACCAGTA	0.353000													20	89					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146758060	146758060	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:146758060G>A	ENST00000369258.4	+	18	2124	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	CHD1L_ENST00000369259.3_Missense_Mutation_p.E498K|CHD1L_ENST00000361293.5_Missense_Mutation_p.E421K|CHD1L_ENST00000431239.1_Missense_Mutation_p.E608K|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	702					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAATGGGGAAGAGAGCTCTGC	0.562000													15	98					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24656175	24656175	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:24656175C>T	ENST00000354464.6	-	8	841	c.665G>A	c.(664-666)tGt>tAt	p.C222Y	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	222					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AAGGGCCTCACAGGCCTTTGC	0.547000													18	73					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2977885	2977885	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:2977885C>G	ENST00000342628.2	-	4	803	c.690G>C	c.(688-690)caG>caC	p.Q230H	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Missense_Mutation_p.Q230H|FOXM1_ENST00000361953.3_Missense_Mutation_p.Q230H	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	230					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACACAGAGTTCTGCCAGGACG	0.507000													6	104					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379998	107379998	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:107379998A>G	ENST00000259362.1	-	1	487	c.488T>C	c.(487-489)gTa>gCa	p.V163A		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAATTGTACTACAAATGTAGT	0.438000													13	76					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668275	115668275	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:115668275G>C	ENST00000369301.3	+	11	2373	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	721					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AGCTCCAGTAGAGCTCAGGTA	0.438000													8	38					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132198104	132198104	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:132198104C>G	ENST00000260818.6	+	25	2991	c.2743C>G	c.(2743-2745)Ctc>Gtc	p.L915V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	915							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGGTTGATTCTCTTCCTTAA	0.299000													8	77					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17145193	17145193	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:17145193G>A	ENST00000377833.4	-	13	1526	c.1461C>T	c.(1459-1461)taC>taT	p.Y487Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	487	CUB 1.				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)	CCGGGCTCCTGTAGCTGAAGC	0.423000													14	23					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830534	38830534	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:38830534C>T	ENST00000436693.2	-	2	680	c.561G>A	c.(559-561)gaG>gaA	p.E187E	TLR6_ENST00000381950.1_Silent_p.E187E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	187					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACTTTCTGTCTCATTTTCTT	0.323000													6	19					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2778920	2778920	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:2778920G>C	ENST00000380605.2	-	4	532	c.468C>G	c.(466-468)ggC>ggG	p.G156G		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	156	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CATATAGATCGCCGTCCTCCA	0.617000													9	46					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288551	151288551	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:151288551G>C	ENST00000368875.2	-	3	1023	c.443C>G	c.(442-444)tCa>tGa	p.S148*	PI4KB_ENST00000368874.4_Nonsense_Mutation_p.S136*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.S136*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.S148*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.S136*|PI4KB_ENST00000529142.1_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	136					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAACAGTTTTGACTCAAACAG	0.527000													12	114					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738435	18738435	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:18738435G>C	ENST00000513874.1	-	10	1225	c.1086C>G	c.(1084-1086)ttC>ttG	p.F362L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	362										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTTCCCATTGAACTTCCACA	0.502000													33	135					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772372	33772372	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:33772372T>C	ENST00000285013.6	-	3	603	c.328A>G	c.(328-330)Aaa>Gaa	p.K110E	SLFN13_ENST00000533791.1_Missense_Mutation_p.K110E|SLFN13_ENST00000526861.1_Missense_Mutation_p.K110E|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.K110E|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	110						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCCAAGATTTAACAAAAATA	0.378000													19	53					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913428	6913428	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:6913428G>A	ENST00000299459.2	-	1	402	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAAAAAGAGAAGTCGAGCT	0.478000													7	61					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116416	49116416	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:49116416C>T	ENST00000263266.3	-	1	403	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	72								p.E72K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCAGTCTTCAGCTGCCGCT	0.672000													5	29					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506150	78506150	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:78506150T>C	ENST00000545128.1	+	1	591	c.53T>C	c.(52-54)gTg>gCg	p.V18A	PCSK5_ENST00000376767.3_Missense_Mutation_p.V18A|PCSK5_ENST00000376752.4_Missense_Mutation_p.V18A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	18					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						CTGCTGTGCGTGCTGGCGCTG	0.716000													7	25					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357094	36357094	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:36357094C>T	ENST00000360202.5	+	15	2025	c.1827C>T	c.(1825-1827)gtC>gtT	p.V609V	KIRREL2_ENST00000262625.7_Silent_p.V609V|KIRREL2_ENST00000347900.6_Silent_p.V559V|KIRREL2_ENST00000592409.1_Silent_p.V574V|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	609					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TCCGAGGAGTCAGTGTGAGCC	0.602000													5	148					0	0	1	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691600	12691600	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12691600G>C	ENST00000593682.1	-	1	189	c.190C>G	c.(190-192)Cca>Gca	p.P64A	ZNF490_ENST00000311437.6_Missense_Mutation_p.S430C																							AAAGTGAGTGGAATAAAGAAA	0.408000													5	101					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122078354	122078354	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:122078354G>C	ENST00000454328.1	-	6	485	c.258C>G	c.(256-258)ctC>ctG	p.L86L	TNIP3_ENST00000509841.1_Silent_p.L163L|TNIP3_ENST00000507879.1_Silent_p.L156L|TNIP3_ENST00000057513.3_Silent_p.L86L			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	86										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CCCGCGTGCTGAGGAATCTTT	0.607000													38	287					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156126264	156126264	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:156126264C>T	ENST00000368285.3	+	3	466	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Silent_p.L67L|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Silent_p.L67L|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	67	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TTTTGACACTCTGCTCCTGAG	0.527000													18	80					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590059	115590059	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:115590059G>A	ENST00000371900.4	+	14	1955	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	623					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGACATGGTAGATCCTAAAAA	0.398000													23	56					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158747486	158747486	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:158747486G>C	ENST00000231228.2	-	5	980	c.525C>G	c.(523-525)ctC>ctG	p.L175L		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	175					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCTGCAGAGAGTGTAGCAG	0.542000													7	50					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220315985	220315985	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:220315985C>T	ENST00000312358.7	+	5	2373	c.2241C>T	c.(2239-2241)gcC>gcT	p.A747A	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.A643A|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	747	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCATCACTGCCAACCCCCCGC	0.632000													10	57					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	672950	672950	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:672950G>A	ENST00000323274.10	+	7	1034	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	TYMS_ENST00000323250.5_Missense_Mutation_p.E216K|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.E265K|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	299					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CTTTCAGATTGAAGGGTACAA	0.423000													30	90					0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16120559	16120559	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:16120559C>A	ENST00000395844.4	+	1	36	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	PIGL_ENST00000498772.2_Missense_Mutation_p.L7M|PIGL_ENST00000225609.5_Missense_Mutation_p.L7M|PIGL_ENST00000581006.1_Missense_Mutation_p.L7M			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		AATGTGGCTCCTGTGTGTGGC	0.597000													8	47					3.09899e-07	3.37736e-07	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10691239	10691239	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:10691239G>C	ENST00000302079.6	-	44	6993	c.6994C>G	c.(6994-6996)Ctc>Gtc	p.L2332V	PIEZO2_ENST00000503781.3_Missense_Mutation_p.L2332V|PIEZO2_ENST00000285141.4_Missense_Mutation_p.L187V|PIEZO2_ENST00000538948.1_Missense_Mutation_p.L289V|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L2357V			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2332						integral to membrane	ion channel activity										AATAAGAAGAGGTTGACGTAA	0.493000													15	96					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23316941	23316941	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:23316941G>A	ENST00000597761.2	+	2	262	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GGCAATGTCTGGACACCGAAC	0.383000													5	114					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871657	31871657	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:31871657G>A	ENST00000396556.2	-	4	726	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	202					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGCTACAGGGAGACGCAGAA	0.547000													11	43					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153895	74153895	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:74153895C>A	ENST00000443185.2	-	3	1433	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTCCGCCCCCTCCTCGG	0.697000													3	10					6.4e-05	6.74478e-05	1	1	0
COX10	1352	broad.mit.edu	37	17	14110468	14110468	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:14110468C>G	ENST00000261643.3	+	7	1347	c.1270C>G	c.(1270-1272)Ctg>Gtg	p.L424V	COX10_ENST00000536205.1_Missense_Mutation_p.L232V|COX10_ENST00000537334.1_Missense_Mutation_p.L207V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	424					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)		GCTGCTGCTGCTGCTCATGCT	0.682000													8	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581179	82581179	+	Silent	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:82581179A>T	ENST00000333891.9	-	5	9427	c.9090T>A	c.(9088-9090)gtT>gtA	p.V3030V	PCLO_ENST00000423517.2_Silent_p.V3030V	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACCTGTAGTAACTCTCCCTG	0.378000													5	32					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1210588	1210588	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:1210588G>A	ENST00000304460.10	+	3	429	c.373G>A	c.(373-375)Gtg>Atg	p.V125M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	125					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCCTTCATGGTGGGACTGTA	0.597000													5	43					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911900	32911900	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:32911900A>G	ENST00000544455.1	+	11	3635	c.3408A>G	c.(3406-3408)atA>atG	p.I1136M	BRCA2_ENST00000380152.3_Missense_Mutation_p.I1136M	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1136					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAGCTACATATTGCAGAAGA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	47					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021776	6021776	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:6021776G>C	ENST00000378858.4	-	5	2339	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	705						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCCGCCTGCAGAGACATGCGG	0.682000													3	30					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92355619	92355619	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:92355619A>G	ENST00000276609.3	+	9	1304	c.1065A>G	c.(1063-1065)tcA>tcG	p.S355S	SLC26A7_ENST00000309536.2_Silent_p.S355S|SLC26A7_ENST00000523719.1_Silent_p.S355S|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	355						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGTTTCTTCATTTTTCTTCT	0.438000													5	12					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841704	157841704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:157841704C>T	ENST00000464171.1	+	3	369	c.244C>T	c.(244-246)Cga>Tga	p.R82*	RSRC1_ENST00000475278.2_Nonsense_Mutation_p.R82*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.R82*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.R82*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.R82*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	82	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			CAGAAGGAAACGAAGTCGAAG	0.378000													6	81					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17132022	17132022	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:17132022C>T	ENST00000265970.7	-	21	3500	c.3501G>A	c.(3499-3501)ctG>ctA	p.L1167L	PIK3C2A_ENST00000540361.1_Silent_p.L787L|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1167	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTACCATCCTCAGATCTAGTC	0.358000													16	80					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101237409	101237409	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:101237409G>C	ENST00000388798.2	+	14	1888	c.1697G>C	c.(1696-1698)aGa>aCa	p.R566T	SPAG1_ENST00000251809.3_Missense_Mutation_p.R566T|SPAG1_ENST00000523302.1_3'UTR	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	566					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGGCTATCAAGAATTTTAATG	0.398000													9	46					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66445239	66445239	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:66445239G>A	ENST00000404260.3	+	24	3434	c.3126G>A	c.(3124-3126)ttG>ttA	p.L1042L	MAST4_ENST00000403625.2_Silent_p.L1039L|MAST4_ENST00000261569.7_Silent_p.L845L|MAST4_ENST00000405643.1_Silent_p.L860L|MAST4_ENST00000403666.1_Silent_p.L850L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1042	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGAGCACTTGGATCAGATAA	0.468000													3	13					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043225	35043225	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:35043225C>A	ENST00000312292.5	+	2	646	c.599C>A	c.(598-600)cCc>cAc	p.P200H	C9orf131_ENST00000421362.2_Missense_Mutation_p.P152H|C9orf131_ENST00000354479.5_Missense_Mutation_p.P127H	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	200										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGGTCTCCCCTCTCTGCAC	0.537000													9	83					7.48243e-07	8.1117e-07	1	1	0
CLCN5	1184	broad.mit.edu	37	X	49853459	49853459	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:49853459C>T	ENST00000376088.3	+	12	2303	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	CLCN5_ENST00000307367.2_Silent_p.T484T|CLCN5_ENST00000376091.3_Silent_p.T554T|CLCN5_ENST00000376108.3_Silent_p.T484T	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	484					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGGAATGGACCGTCTTCAATA	0.512000													33	70					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446895	85446895	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:85446895C>A	ENST00000369663.5	-	8	1669	c.1332G>T	c.(1330-1332)caG>caT	p.Q444H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	444					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTCACCAGCCTGGTTGGTGA	0.607000													7	62					5.18039e-06	5.52888e-06	1	1	0
ARSG	22901	broad.mit.edu	37	17	66352862	66352862	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:66352862C>G	ENST00000448504.2	+	6	1417	c.621C>G	c.(619-621)ctC>ctG	p.L207L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L43L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	207					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAACCTCAACATTGTGG	0.502000													8	39					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249322	88249322	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:88249322A>G	ENST00000518476.1	+	6	804	c.753A>G	c.(751-753)ctA>ctG	p.L251L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	251										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGATGTACCTACCTTCATATG	0.378000													7	51					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560704	44560704	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:44560704C>A	ENST00000332567.4	-	1	1284	c.932G>T	c.(931-933)aGt>aTt	p.S311I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	311					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTTCGAGTGACTGTGCTGAGG	0.612000													31	177					2.42023e-17	2.74648e-17	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158650496	158650496	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:158650496C>G	ENST00000368147.4	-	5	735	c.555G>C	c.(553-555)gaG>gaC	p.E185D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						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)					CTTCACCTAGCTCCACTGATG	0.453000													8	73					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183041140	183041140	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:183041140C>T	ENST00000328913.3	-	6	784		c.e6-1		MCF2L2_ENST00000447025.2_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000414362.2_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.?(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCATGATGATCTGTAAGGTAA	0.343000													11	68					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660189	11660189	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:11660189C>A	ENST00000592923.1	+	7	980	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	CNN1_ENST00000252456.2_Silent_p.R185R|CNN1_ENST00000535659.2_Silent_p.R135R|CNN1_ENST00000544952.1_Silent_p.R165R			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	185					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CTATGGCACCCGGCGCCACCT	0.587000													3	49					0.115264	0.11625	1	1	0
RNF213	57674	broad.mit.edu	37	17	78263536	78263536	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:78263536G>A	ENST00000582970.1	+	6	1155	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	RNF213_ENST00000319921.4_Missense_Mutation_p.D338N|RNF213_ENST00000456466.1_Missense_Mutation_p.D338N|RNF213_ENST00000508628.2_Missense_Mutation_p.D387N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	338										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGCCTGAAGACCTCAAGAA	0.498000													10	36					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2828984	2828984	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:2828984C>T	ENST00000356331.5	+	6	717	c.456C>T	c.(454-456)ttC>ttT	p.F152F	SH3BP2_ENST00000503393.2_Silent_p.F209F|SH3BP2_ENST00000435136.2_Silent_p.F152F|SH3BP2_ENST00000511747.1_Silent_p.F152F|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Silent_p.F180F|SH3BP2_ENST00000452765.2_Silent_p.F152F	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	152					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CAGACAGCTTCTACGGCGCAG	0.607000									Cherubism				4	62					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61829295	61829295	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:61829295C>G	ENST00000582252.1	-	12	1553	c.1376G>C	c.(1375-1377)aGa>aCa	p.R459T	CCDC47_ENST00000403162.3_Intron|RP11-51F16.8_ENST00000580553.1_Intron|CCDC47_ENST00000225726.5_Intron			Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	0						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATAAGTTTGTCTAACCTCCAG	0.438000													15	83					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30370172	30370172	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:30370172A>G	ENST00000340513.4	+	12	1811	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	TPX2_ENST00000300403.6_Missense_Mutation_p.E392G			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	392					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTGGAGGCTGAGGAGCTCGAG	0.498000													7	101					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152631541	152631541	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:152631541G>C	ENST00000367255.5	-	89	17610	c.17009C>G	c.(17008-17010)tCt>tGt	p.S5670C	SYNE1_ENST00000341594.5_Missense_Mutation_p.S5282C|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5599C|SYNE1_ENST00000356820.4_Missense_Mutation_p.S194C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5599C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5670C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5670					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCCGATGAGAGAGCTGCTC	0.443000										HNSCC(10;0.0054)			5	77					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134463179	134463179	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:134463179C>G	ENST00000372195.1	-	19	2913	c.2670G>C	c.(2668-2670)gaG>gaC	p.E890D	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E873D|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E891D			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	873	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCTCTTCTCCTCATTCTGCT	0.542000													4	28					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66264316	66264316	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:66264316G>A	ENST00000380828.2	+	9	1009	c.855G>A	c.(853-855)ctG>ctA	p.L285L	KCTD7_ENST00000510829.2_Silent_p.L245L|RABGEF1_ENST00000437078.2_Silent_p.L259L|KCTD7_ENST00000451741.2_Silent_p.L245L|RABGEF1_ENST00000450873.2_Silent_p.L245L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000284957.5_Silent_p.L245L|RABGEF1_ENST00000439720.2_Silent_p.L258L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTAGAGCCCTGCGCTGGGTTA	0.493000													6	28					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226340170	226340170	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:226340170G>A	ENST00000366812.5	-	7	1295	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	414	GOLD.				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)		AAAGAGATATGATCCTTCTTC	0.458000													9	114					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1638333	1638333	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:1638333G>T	ENST00000303415.3	-	1	92	c.28C>A	c.(28-30)Cct>Act	p.P10T	SIRPG_ENST00000381583.2_Missense_Mutation_p.P10T|SIRPG_ENST00000344103.4_Missense_Mutation_p.P10T|SIRPG_ENST00000216927.4_Missense_Mutation_p.P10T	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	10					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGACCAGGAGGATGGGGCCAG	0.557000													10	59					0.010729	0.0109683	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38463107	38463107	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:38463107T>C	ENST00000322350.5	+	21	3215	c.2869T>C	c.(2869-2871)Tat>Cat	p.Y957H	EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y965H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.Y100H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y323H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y723H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.Y100H|EGFLAM_ENST00000506135.1_Missense_Mutation_p.Y100H|CTD-2263F21.1_ENST00000510469.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	965	Laminin G-like 3.					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)					TGGAGCTCTGTATGTGGGTAA	0.498000													11	45					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150885417	150885417	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:150885417G>A	ENST00000261800.5	-	23	12771	c.12759C>T	c.(12757-12759)ccC>ccT	p.P4253P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4253					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGCCGAGAGGGCATCAGAT	0.627000													15	119					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440866	168440866	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:168440866C>G	ENST00000443060.2	+	7	1007	c.616C>G	c.(616-618)Cta>Gta	p.L206V	KIF25_ENST00000351261.3_Missense_Mutation_p.L206V|KIF25_ENST00000354419.2_Missense_Mutation_p.L206V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	206	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)		TACGGTGACTCTAACCACAGC	0.512000													3	32					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097677	167097677	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:167097677G>A	ENST00000361200.2	+	6	3475	c.3309G>A	c.(3307-3309)agG>agA	p.R1103R	DUSP27_ENST00000271385.5_Silent_p.R1103R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R1103R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1103					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAAGAGAGGACAGAAAACA	0.493000													5	26					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126389788	126389788	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:126389788T>A	ENST00000394329.3	+	11	12034	c.12021T>A	c.(12019-12021)agT>agA	p.S4007R	FAT4_ENST00000335110.5_Missense_Mutation_p.S2270R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4007	Laminin G-like 1.				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						CGATTAAAAGTCATGCCTTAT	0.378000													12	67					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41009383	41009383	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:41009383G>A	ENST00000399564.4	-	32	3869	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	MROH2B_ENST00000506092.2_Splice_Site_p.S695L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCAACTCACTGAAATTGCCTC	0.498000													17	70					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691907	12691907	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12691907G>C	ENST00000311437.6	-	5	1104	c.982C>G	c.(982-984)Cat>Gat	p.H328D		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCCAGTATGAGTTTTCTCA	0.458000													8	83					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252158	26252158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:26252158G>T	ENST00000356350.2	+	1	280	c.280G>T	c.(280-282)Gag>Tag	p.E94*		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	94					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CACCTCCAGGGAGATCCAGAC	0.592000													12	159					9.31168e-06	9.91243e-06	1	1	0
PXDN	7837	broad.mit.edu	37	2	1652204	1652204	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:1652204C>A	ENST00000252804.4	-	17	3398	c.3348G>T	c.(3346-3348)ccG>ccT	p.P1116P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1116					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCTGAGAAGCGGATCGATGC	0.602000													14	30					1.3612e-06	1.46989e-06	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57956149	57956149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57956149C>T	ENST00000334181.4	+	3	1883	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGACCTCATTCAACACAAGAG	0.453000													23	80					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48177392	48177392	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:48177392C>T	ENST00000418331.2	+	20	3621	c.3269C>T	c.(3268-3270)tCa>tTa	p.S1090L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1090	Tyrosine-protein phosphatase.				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						CAGACCCATTCAACGGATGAC	0.423000													3	51					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152539535	152539535	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:152539535C>T	ENST00000367255.5	-	121	22649	c.22048G>A	c.(22048-22050)Gga>Aga	p.G7350R	SYNE1_ENST00000341594.5_Missense_Mutation_p.G6962R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G7279R|SYNE1_ENST00000356820.4_Missense_Mutation_p.G1874R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G7279R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G7350R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7350					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAGAACTCCAGCCTTTTTT	0.353000										HNSCC(10;0.0054)			25	177					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504668	61504668	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:61504668A>G	ENST00000257215.5	+	14	1502	c.1386A>G	c.(1384-1386)aaA>aaG	p.K462K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	462					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCGGAACCAAACACTACGGCC	0.632000													20	128					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80047252	80047252	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:80047252C>T	ENST00000306749.2	-	13	2192	c.1974G>A	c.(1972-1974)gtG>gtA	p.V658V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	658	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGAACTCAAACACCGGGGCCT	0.632000													9	59					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640361	104640361	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:104640361A>G	ENST00000304883.2	-	1	612	c.472T>C	c.(472-474)Tgc>Cgc	p.C158R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	158						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)		TGGAAGCGGCAGTAGTTGGCG	0.547000													8	39					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370280	186370280	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:186370280G>A	ENST00000265029.3	+	7	1110	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.E300K|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.E272K|FETUB_ENST00000450521.1_Missense_Mutation_p.E337K|FETUB_ENST00000539949.1_Missense_Mutation_p.E189K	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	337						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCCAGGGAGAAACCCTGGA	0.522000													21	114					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8502368	8502368	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:8502368G>A	ENST00000262648.3	-	13	2125	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	659					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACTGTGTGCTGAAGAGGGTGG	0.532000													4	18					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405721	47405721	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:47405721C>A	ENST00000295454.3	+	7	1120	c.828C>A	c.(826-828)gtC>gtA	p.V276V	GABRB1_ENST00000538619.1_Silent_p.V206V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	276					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)	CAGCCAGAGTCGCACTAGGTA	0.398000													12	57					7.03913e-09	7.76374e-09	1	1	0
ACOT4	122970	broad.mit.edu	37	14	74062294	74062294	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:74062294A>G	ENST00000326303.4	+	3	1456	c.1202A>G	c.(1201-1203)cAa>cGa	p.Q401R		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	401					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCCTGGAAGCAAATTCTAGCC	0.478000													9	88					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346004	152346004	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:152346004A>T	ENST00000359321.1	-	3	651	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	189					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AAAAAGAACCAGGCGATAGTC	0.453000								Homologous recombination					19	95					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273616	65273616	+	RNA	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:65273616C>T	ENST00000534336.1	+	0	8384					NR_002819.2																						TCCTGGTTTCCAGGACGGGGT	0.413000													7	39					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69031743	69031743	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:69031743C>T	ENST00000288368.4	+	28	3775	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1166					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCATCTTTTCAGCCAGGTAC	0.403000													20	129					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008037	39008037	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:39008037G>T	ENST00000355481.4	+	66	9855	c.9724G>T	c.(9724-9726)Gac>Tac	p.D3242Y	RYR1_ENST00000360985.3_Missense_Mutation_p.D3242Y|RYR1_ENST00000359596.3_Missense_Mutation_p.D3242Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3242					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGTGTCCCGACATCCCGGT	0.647000													3	51					1	1	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48866551	48866551	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:48866551T>C	ENST00000293261.3	-	2	577	c.261A>G	c.(259-261)atA>atG	p.I87M	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.I87M|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000377431.2_Missense_Mutation_p.I87M|TMEM143_ENST00000436660.2_Missense_Mutation_p.I87M	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	87						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCGGTACCTGTATTAGGAGGC	0.667000													11	46					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215515	57215515	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:57215515G>C	ENST00000205214.6	-	11	2582	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	AASDH_ENST00000502617.1_Missense_Mutation_p.S801C|AASDH_ENST00000513376.1_Missense_Mutation_p.S701C|AASDH_ENST00000451613.1_Missense_Mutation_p.S801C|AASDH_ENST00000602986.1_Missense_Mutation_p.S648C|AASDH_ENST00000434343.2_Missense_Mutation_p.S316C	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	801					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TACCTTCCCAGAGTAAAAGTC	0.393000													4	53					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389566	129389566	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:129389566G>A	ENST00000393238.3	-	4	1458	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMCC1_ENST00000432054.2_Missense_Mutation_p.A49V|TMCC1_ENST00000329333.5_Missense_Mutation_p.A194V|TMCC1_ENST00000426664.2_Missense_Mutation_p.A259V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	373						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AATGAGTGAGGCAATCTCTCT	0.527000													6	54					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232392925	232392925	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:232392925G>A	ENST00000305141.4	-	2	940	c.807C>T	c.(805-807)gcC>gcT	p.A269A		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	269					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCCTGCCCTTGGCCTCCTGCA	0.627000													5	26					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032489	21032489	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:21032489T>C	ENST00000381545.3	+	11	1474	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F419L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F419L|LST3_ENST00000540229.1_Missense_Mutation_p.F419L|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	419					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GATGATATCCTTCTTGTTTCA	0.328000													11	71					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:7579355A>C	ENST00000420246.2	-	4	464	c.332T>G	c.(331-333)cTg>cGg	p.L111R	TP53_ENST00000413465.2_Missense_Mutation_p.L111R|TP53_ENST00000445888.2_Missense_Mutation_p.L111R|TP53_ENST00000455263.2_Missense_Mutation_p.L111R|TP53_ENST00000269305.4_Missense_Mutation_p.L111R|TP53_ENST00000359597.4_Missense_Mutation_p.L111R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	111	Interaction with HIPK1 (By similarity).		L -> M (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L111R(11)|p.0?(8)|p.L111Q(7)|p.L111P(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(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)		CAAGAAGCCCAGACGGAAACC	0.617000		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)			12	75					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18378125	18378125	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:18378125C>G	ENST00000441493.2	-	10	1726	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	MICAL3_ENST00000400561.2_Missense_Mutation_p.K458N|MICAL3_ENST00000585038.1_Missense_Mutation_p.K458N|MICAL3_ENST00000414725.2_Missense_Mutation_p.K458N|MICAL3_ENST00000429452.1_Missense_Mutation_p.K458N|MICAL3_ENST00000207726.7_Missense_Mutation_p.K458N|MICAL3_ENST00000383094.3_Missense_Mutation_p.K458N|MICAL3_ENST00000444520.1_Missense_Mutation_p.K458N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	458						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGAAGTTCTTACTCACAT	0.468000													8	17					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202817	69202817	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:69202817T>C	ENST00000344157.4	-	4	1146	c.811A>G	c.(811-813)Agt>Ggt	p.S271G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.S271G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.S271G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	271										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCAGAGTCACTGGCCTCACTT	0.448000													19	50					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165994442	165994442	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:165994442C>A	ENST00000360093.3	-	15	2829	c.2338G>T	c.(2338-2340)Gag>Tag	p.E780*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.E731*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.E780*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	780						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGGTAGTGCTCCATGGCCATA	0.363000													18	81					3.99206e-14	4.51776e-14	1	1	0
NAT16	375607	broad.mit.edu	37	7	100816750	100816750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:100816750C>A	ENST00000300303.2	-	3	602	c.364G>T	c.(364-366)Gag>Tag	p.E122*	NAT16_ENST00000455377.1_Nonsense_Mutation_p.E122*	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	122	N-acetyltransferase.						N-acetyltransferase activity										CGCAGCCCCTCCACCAGCACC	0.736000													7	26					0.000673444	0.000701504	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33236455	33236455	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:33236455G>T	ENST00000401073.2	+	6	1745	c.1675G>T	c.(1675-1677)Gta>Tta	p.V559L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.V511L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.V500L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	500	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)				CAACAGCTGGGTACCTGGCTT	0.667000													3	11					1	1	1	1	0
GCFC2	6936	broad.mit.edu	37	2	75923441	75923441	+	Splice_Site	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:75923441C>A	ENST00000321027.3	-	5	851	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	GCFC2_ENST00000409857.3_Splice_Site_p.E202*|GCFC2_ENST00000541687.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	240					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E240K(1)									ATGTCTCTTTCCTAAAAAAGT	0.299000													15	89					1.99824e-07	2.1835e-07	1	1	0
MYH15	22989	broad.mit.edu	37	3	108110646	108110646	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:108110646C>A	ENST00000273353.3	-	38	5507	c.5451G>T	c.(5449-5451)ctG>ctT	p.L1817L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1817						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTCCCCATCAGGGCCATCT	0.473000													31	164					2.81731e-10	3.13246e-10	1	1	0
CD1E	913	broad.mit.edu	37	1	158326606	158326606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:158326606C>T	ENST00000444681.2	+	5	1083	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CD1E_ENST00000368154.1_Nonsense_Mutation_p.Q119*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q296*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.Q206*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.Q107*|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q174*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q351*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q162*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q261*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q273*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.Q363*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	363	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCAAGACATCAGTTCTGCTT	0.438000													9	60					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	22					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154991117	154991117	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:154991117G>C	ENST00000368424.3	-	15	2283	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	742	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTGGCGGAGGATGTCTCAGG	0.607000													9	57					0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117161012	117161012	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:117161012C>G	ENST00000261318.3	-	2	288	c.128G>C	c.(127-129)aGa>aCa	p.R43T	C12orf49_ENST00000536380.1_Intron	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	43						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATTCCTATCTCTCACTGCCCT	0.453000													7	43					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368600	111368600	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:111368600C>T	ENST00000428084.1	-	53	5930	c.5658G>A	c.(5656-5658)ccG>ccA	p.P1886P	DOCK4_ENST00000494651.2_Silent_p.P760P|DOCK4_ENST00000437633.1_Silent_p.P1877P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1877	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCACTGGCACCGGCAGGGGGG	0.642000													17	56					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18327584	18327584	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:18327584C>T	ENST00000355502.3	-	16	2323	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	PDE4C_ENST00000262805.12_Silent_p.Q452Q|PDE4C_ENST00000597297.1_Silent_p.Q254Q|PDE4C_ENST00000594465.3_Silent_p.Q484Q|PDE4C_ENST00000598111.2_Silent_p.Q199Q|PDE4C_ENST00000447275.3_Silent_p.Q378Q|PDE4C_ENST00000539010.1_Silent_p.Q253Q|PDE4C_ENST00000594617.3_Silent_p.Q484Q|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	484					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GACTCAGTCGCTGCTTGGCGC	0.612000													10	81					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415871	15415871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:15415871G>A	ENST00000281513.5	-	44	5486	c.5461C>T	c.(5461-5463)Caa>Taa	p.Q1821*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.Q1701*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1821										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGATATTTTGACTTGAAAGA	0.383000													11	74					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100832284	100832284	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:100832284A>G	ENST00000358544.2	+	49	9114	c.9003A>G	c.(9001-9003)ctA>ctG	p.L3001L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L2976L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3001			L -> V (in a breast cancer sample; somatic mutation).		protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCTCTGGCTATTTGAAGGAG	0.378000													30	116					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173245	161173245	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:161173245A>G	ENST00000308192.9	+	18	2287	c.2224A>G	c.(2224-2226)Acc>Gcc	p.T742A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	742	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTCCAATCCACCGAACTCTG	0.488000													5	65					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017764	1017764	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:1017764G>T	ENST00000421673.2	-	31	5087	c.5037C>A	c.(5035-5037)agC>agA	p.S1679R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1679	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGGCTTGGCTGGTCCCGC	0.552000													57	824					1.34996e-11	1.51115e-11	1	1	0
EPS8L2	64787	broad.mit.edu	37	11	723349	723349	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:723349C>G	ENST00000533256.1	+	16	1825	c.1450C>G	c.(1450-1452)Cac>Gac	p.H484D	EPS8L2_ENST00000530636.1_Missense_Mutation_p.H484D|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.H500D|EPS8L2_ENST00000318562.8_Missense_Mutation_p.H484D			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	484						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACATACTCACAGGTAAGC	0.562000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746825	73746825	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:73746825C>T	ENST00000200181.3	+	29	3726	c.3539C>T	c.(3538-3540)tCa>tTa	p.S1180L	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1180L|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1180L|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1180L|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1180L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1180	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGTGCCCTCAGTGGAGCTC	0.612000													4	51					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79569478	79569478	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:79569478C>T	ENST00000372391.2	-	24	4479	c.4474G>A	c.(4474-4476)Gat>Aat	p.D1492N	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.D1152N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1492					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)			TTGTTGGCATCTCCCGCAATC	0.512000													46	102					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331079	40331079	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:40331079C>A	ENST00000221801.3	-	3	371	c.258G>T	c.(256-258)gtG>gtT	p.V86V		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	86					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCTCCACCATCACATTCTTCC	0.607000													57	225					1.14385e-22	1.30523e-22	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345590	92345590	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:92345590C>T	ENST00000377067.3	+	3	847	c.475C>T	c.(475-477)Cct>Tct	p.P159S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	159						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P159T(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGATGTTAATCCTGAAGAATT	0.443000													16	112					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094355	27094355	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:27094355G>A	ENST00000324856.7	+	11	3434	c.3063G>A	c.(3061-3063)aaG>aaA	p.K1021K	ARID1A_ENST00000374152.2_Silent_p.K638K|ARID1A_ENST00000457599.2_Silent_p.K1021K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1021	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGAGAGGAAGATGTGGGTGG	0.493000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	46					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7822024	7822024	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:7822024C>G	ENST00000379562.4	-	4	418	c.371G>C	c.(370-372)aGa>aCa	p.R124T	KIN_ENST00000543003.1_Missense_Mutation_p.R18T|KIN_ENST00000535925.1_Missense_Mutation_p.R124T	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CTTACCTTCTCTGCCCAGCCA	0.393000													8	38					0	0	1	0	0
DUSP28	285193	broad.mit.edu	37	2	241500377	241500377	+	Silent	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:241500377G>T	ENST00000405954.1	+	1	659	c.276G>T	c.(274-276)gcG>gcT	p.A92A	ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_5'UTR|DUSP28_ENST00000343217.2_Silent_p.A92A			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	92	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TGGAGGCCGCGGTGCGCGCCG	0.761000													3	7					0.004672	0.00480599	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75503104	75503104	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:75503104G>A	ENST00000360639.2	+	3	3111	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	C15orf39_ENST00000567617.1_3'UTR|C15orf39_ENST00000394987.4_Missense_Mutation_p.E931K			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	931										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTGACACTGAGGCTGGAGC	0.592000													3	28					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458265	45458265	+	RNA	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:45458265G>A	ENST00000548424.1	+	0	448																											TTTAATAACCGTCTTAGAGAC	0.468000													4	15					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157213120	157213120	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:157213120G>T	ENST00000362010.2	-	2	326	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	VEPH1_ENST00000392832.2_Missense_Mutation_p.L7M|VEPH1_ENST00000537559.1_Missense_Mutation_p.L7M|VEPH1_ENST00000392833.2_Missense_Mutation_p.L7M|VEPH1_ENST00000543418.1_Missense_Mutation_p.L7M|VEPH1_ENST00000468233.1_Missense_Mutation_p.L7M|VEPH1_ENST00000494677.1_Missense_Mutation_p.L7M	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	7						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCCAAAACCAGTCTGAACAGT	0.428000													20	114					0.00152264	0.00157613	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55212841	55212841	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:55212841C>T	ENST00000447346.2	+	15	2253	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	IL31RA_ENST00000490985.1_Missense_Mutation_p.H588Y|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	698					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)				AGTACCAGATCATCTGTGTGA	0.478000													3	43					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138033555	138033555	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:138033555C>T	ENST00000409968.1	+	12	2637	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M	THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M					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)		CAGGGAATAACGGGCAGCAGT	0.403000													3	19					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6820512	6820512	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:6820512G>C	ENST00000403107.1	+	13	1989	c.1602G>C	c.(1600-1602)caG>caC	p.Q534H	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.Q534H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.Q534H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.Q534H|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000359718.3_Intron					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						ATGCCTGCCAGATAAAAGGTA	0.398000													28	124					0	0	1	0	0
CRIP2	1397	broad.mit.edu	37	14	105945814	105945814	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:105945814C>G	ENST00000329146.4	+	7	1256	c.543C>G	c.(541-543)atC>atG	p.I181M	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.I255M	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	181	Gly-rich.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCTATGGAATCCTCTTCGGAC	0.657000													16	73					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104903802	104903802	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:104903802G>C	ENST00000533400.1	-	3	361	c.326C>G	c.(325-327)tCt>tGt	p.S109C	CASP1_ENST00000598974.1_Missense_Mutation_p.S109C|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.S109C|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.S70C|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	109					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)	TGGAAAGGAAGAAAGTACTCC	0.358000													10	68					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18824617	18824617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:18824617C>T	ENST00000361511.4	+	15	1842	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	PPEF1_ENST00000359763.6_Nonsense_Mutation_p.Q397*|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.Q385*|PPEF1_ENST00000349874.5_Nonsense_Mutation_p.Q388*|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	450	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCGATTTTTCCAGTACCAAGT	0.433000													43	91					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506220	78506220	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:78506220C>G	ENST00000545128.1	+	1	661	c.123C>G	c.(121-123)gtC>gtG	p.V41V	PCSK5_ENST00000376767.3_Silent_p.V41V|PCSK5_ENST00000376752.4_Silent_p.V41V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					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						ACTGGGCAGTCAAAATCGCCG	0.642000													10	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454355	179454355	+	Silent	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179454355T>A	ENST00000589042.1	-	304	62321	c.62097A>T	c.(62095-62097)ccA>ccT	p.P20699P	TTN_ENST00000460472.2_Silent_p.P11634P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P11759P|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.P18131P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P19058P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Silent_p.P11826P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19058							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)			ATGACAGATTTGGACTGCCAC	0.438000													26	161					0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223168891	223168891	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:223168891G>C	ENST00000295226.1	+	2	654	c.270G>C	c.(268-270)ttG>ttC	p.L90F		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	90										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCGTTTTGAAGAGTGCTG	0.657000													5	27					0	0	1	0	0
SAP30	8819	broad.mit.edu	37	4	174292606	174292606	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:174292606G>T	ENST00000296504.3	+	1	513	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	91	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GGATCCAGAAGAGCATCTCCC	0.692000													8	75					5.18039e-06	5.52888e-06	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7662790	7662790	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:7662790C>A	ENST00000299492.4	+	16	1844	c.1456C>A	c.(1456-1458)Cag>Aag	p.Q486K	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q343K|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q374K|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q328K|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	486					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATCAGGTCCTCAGTCTCCTCT	0.473000													7	94					0.000274275	0.00028679	1	1	0
ACAN	176	broad.mit.edu	37	15	89402225	89402225	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:89402225C>T	ENST00000439576.2	+	12	6783	c.6409C>T	c.(6409-6411)Cac>Tac	p.H2137Y	ACAN_ENST00000352105.7_Missense_Mutation_p.H2137Y|ACAN_ENST00000561243.1_Missense_Mutation_p.H2137Y|ACAN_ENST00000559004.1_Missense_Mutation_p.H2137Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2137					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCTGCATTCCACGAAGCTAA	0.582000													9	66					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800824	67800824	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:67800824C>T	ENST00000544246.1	-	2	2440	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	PCDH9_ENST00000328454.5_Silent_p.E583E|PCDH9_ENST00000456367.1_Silent_p.E583E|PCDH9_ENST00000377865.2_Silent_p.E583E|PCDH9_ENST00000377861.3_Silent_p.E583E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGGCAGATTCTCAGACACAA	0.408000													4	102					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269190	53269190	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:53269190C>G	ENST00000338230.3	-	3	2086	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TAAGGTTTCTCTGCAGTGTGA	0.383000													15	199					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684779	75684779	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:75684779G>A	ENST00000394947.3	-	15	2969	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	SIN3A_ENST00000394949.4_Silent_p.L885L|SIN3A_ENST00000360439.4_Silent_p.L885L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	885					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGACATAGAAGAGGTTGTATA	0.443000													9	65					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888947	141888947	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:141888947C>T	ENST00000515673.2	-	2	598	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	RNF150_ENST00000379512.2_Missense_Mutation_p.V48M|RNF150_ENST00000306799.3_Missense_Mutation_p.V189M|RNF150_ENST00000507500.1_Missense_Mutation_p.V189M|RNF150_ENST00000420921.2_Missense_Mutation_p.V48M|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TACATTGTCACGGTGATGTTT	0.473000													19	75					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961473	17961473	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:17961473C>T	ENST00000361221.3	+	18	2048	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S388L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S625L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S333L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S403L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S591L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S591L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	630					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCAGCACTCAGGCGCCAAG	0.637000													4	49					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731769	57731769	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:57731769G>A	ENST00000281282.5	+	2	1650	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	524	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAATTTCCGTGAAGACATTTC	0.433000													9	29					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356924	37356924	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:37356924A>G	ENST00000217420.1	+	2	1483	c.1220A>G	c.(1219-1221)aAg>aGg	p.K407R		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	407					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTGCTGGAGAAGTCGCTCTTC	0.657000													9	66					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532569	71532569	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:71532569G>C	ENST00000265382.3	+	9	1182	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.D293H	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	293	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.D293Y(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAATGTGCCTGATGCTAAGCG	0.473000													56	147					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899562	233899562	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:233899562C>T	ENST00000233840.3	+	2	938	c.938C>T	c.(937-939)cCg>cTg	p.P313L		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	313							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TACCTCAACCCGCGACCTCCA	0.697000													12	67					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155241769	155241769	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:155241769C>T	ENST00000460012.1	-	11	1654	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	PLCH1_ENST00000334686.6_Missense_Mutation_p.G433R|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451R|PLCH1_ENST00000414191.1_Missense_Mutation_p.G433R|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451R|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	451	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCATCATCCCCAAGGTGATAA	0.408000													22	176					0	0	1	0	0
CTSZ	1522	broad.mit.edu	37	20	57571732	57571732	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:57571732C>T	ENST00000217131.5	-	5	881	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	255					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ATCCAGTACTCAGTCCCATCA	0.473000													28	153					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125482606	125482606	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:125482606G>A	ENST00000392708.4	+	12	1488	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	STT3A_ENST00000531491.1_Silent_p.K351K|STT3A_ENST00000529196.1_Silent_p.K443K	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	443					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AGAAGAGCAAGAAGCAACAGG	0.448000													12	47					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021841	51021841	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:51021841C>T	ENST00000599957.1	-	3	1326	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.E377K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	377	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCATGCCCTCGGTGACGTTG	0.662000													3	20					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864625	30864625	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:30864625G>A	ENST00000324771.8	+	15	2400	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	DDR1_ENST00000418800.2_Missense_Mutation_p.E581K|DDR1_ENST00000508312.1_Missense_Mutation_p.E599K|DDR1_ENST00000513240.1_Missense_Mutation_p.E618K|DDR1_ENST00000454612.2_Missense_Mutation_p.E581K|DDR1_ENST00000376568.3_Missense_Mutation_p.E618K|DDR1_ENST00000376570.4_Missense_Mutation_p.E581K|DDR1_ENST00000452441.1_Missense_Mutation_p.E618K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Missense_Mutation_p.E581K|DDR1_ENST00000376575.3_Missense_Mutation_p.E618K|DDR1_ENST00000361741.4_Missense_Mutation_p.E285K|DDR1_ENST00000376567.2_Missense_Mutation_p.E581K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	618	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAAGCTTGGCGAGGGCCAGTT	0.622000													21	98					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467709	58467709	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:58467709T>C	ENST00000357552.3	-	23	2066	c.1841A>G	c.(1840-1842)aAa>aGa	p.K614R	SYCP2_ENST00000371001.2_Missense_Mutation_p.K614R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	614					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATGCCCATTTGCTGTGTAT	0.333000													8	86					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905853	66905853	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:66905853G>A	ENST00000374690.3	+	3	2294	c.1770G>A	c.(1768-1770)ggG>ggA	p.G590G	AR_ENST00000396044.3_Splice_Site_p.G590G|AR_ENST00000396043.2_Splice_Site_p.G58G|AR_ENST00000504326.1_Splice_Site_p.G590G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	589	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTCTCCCAGGGAAACAGAAGT	0.383000									Androgen Insensitivity Syndrome				9	32					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243858938	243858938	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:243858938G>C	ENST00000366539.1	-	3	327	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E	AKT3_ENST00000336199.5_Missense_Mutation_p.Q43E|AKT3_ENST00000366540.1_Missense_Mutation_p.Q43E|AKT3_ENST00000263826.5_Missense_Mutation_p.Q43E			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	43	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TCCACATCTTGAGGTTTCTCT	0.323000													3	21					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602722	5602722	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:5602722C>G	ENST00000345043.2	+	1	616	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGCCCATCTGTCCTGTTC	0.448000													35	135					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101776966	101776966	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:101776966G>A	ENST00000261637.4	+	59	7978	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2602					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGCGGAGTCTGACGGAGAAGA	0.502000													7	31					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78511988	78511988	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:78511988C>A	ENST00000370759.3	+	1	403	c.210C>A	c.(208-210)atC>atA	p.I70I	GIPC2_ENST00000476882.1_Intron	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	70						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						ACGCCCAGATCGCGGGCGCGT	0.701000													3	13					0.115264	0.11625	1	1	0
YTHDC1	91746	broad.mit.edu	37	4	69184562	69184562	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:69184562C>T	ENST00000344157.4	-	13	2038	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R568Q|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R550Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	568	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TTCCTGGTATCGTGGATCCTT	0.328000													6	49					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165399	172165399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:172165399G>A	ENST00000427970.1	-	1	846	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	GHSR_ENST00000241256.2_Intron	NM_004122.2	NP_004113.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	0					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCGCGCGCTGAGACCCACCC	0.617000													13	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644066	179644066	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179644066C>G	ENST00000589042.1	-	23	4077	c.3853G>C	c.(3853-3855)Gaa>Caa	p.E1285Q	TTN_ENST00000460472.2_Missense_Mutation_p.E1239Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1239Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1285Q|TTN_ENST00000591111.1_Missense_Mutation_p.E1285Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1239Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1285Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1285							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)			GCTTCAGATTCAGAAATGTCA	0.333000													9	51					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114869218	114869218	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:114869218C>G	ENST00000420625.2	+	7	742	c.608C>G	c.(607-609)tCt>tGt	p.S203C	PLS3_ENST00000289290.3_Missense_Mutation_p.S158C|PLS3_ENST00000539310.1_Missense_Mutation_p.S158C|PLS3_ENST00000537301.1_Missense_Mutation_p.S181C|PLS3_ENST00000355899.3_Missense_Mutation_p.S203C	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	203	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCACTGAACTCTGCTTCTGCC	0.443000													21	53					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883648	196883648	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:196883648G>C	ENST00000367416.2	+	8	1338	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	CFHR4_ENST00000367418.2_Missense_Mutation_p.E155Q|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.E155Q	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						GCCTGTTTTTGAGAATTCCAG	0.388000													8	65					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180852	126180852	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:126180852C>T	ENST00000389709.3	-	6	1706	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	ZXDC_ENST00000336332.5_Silent_p.G551G	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	551					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CAGGGAGGTTCCCTCCCAGAG	0.577000													15	36					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606004	1606004	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:1606004G>C	ENST00000382171.2	-	1	509	c.476C>G	c.(475-477)tCc>tGc	p.S159C	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	159	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCACCCACAGGAGCCACAGCC	0.652000													14	122					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240959	3240959	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:3240959T>C	ENST00000217939.6	-	5	2921	c.2767A>G	c.(2767-2769)Act>Gct	p.T923A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	923						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTGCAGAGTAGGAGATGGT	0.507000													7	47					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11374508	11374508	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:11374508G>A	ENST00000354449.3	+	9	855	c.830G>A	c.(829-831)aGa>aAa	p.R277K	ATG7_ENST00000354956.5_Missense_Mutation_p.R277K|ATG7_ENST00000446450.2_Missense_Mutation_p.R238K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	277					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAGGGGGCGAGAGACGTTGCC	0.418000													23	29					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160932113	160932113	+	RNA	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:160932113G>A	ENST00000335388.5	-	0	43					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAGAGTAAACGCATCCACAAA	0.438000													11	102					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101391041	101391041	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:101391041G>C	ENST00000312938.4	-	2	907	c.327C>G	c.(325-327)gtC>gtG	p.V109V	ZBTB11_ENST00000461821.1_Silent_p.V109V	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTAATCTTTGACTTGCTTCA	0.323000													8	70					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195249	195249	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:195249G>A	ENST00000398612.1	+	6	785	c.402G>A	c.(400-402)atG>atA	p.M134I	ZNF596_ENST00000320552.2_Missense_Mutation_p.M64I|ZNF596_ENST00000308811.4_Missense_Mutation_p.M134I	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TTACCTACATGAGAACGAAAC	0.348000													15	32					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836173	23836173	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:23836173G>C	ENST00000359788.4	-	4	1730	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	521					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGTTTTGAGGATCGGCT	0.363000													5	92					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664598	88664598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:88664598G>A	ENST00000301011.5	+	4	901	c.701G>A	c.(700-702)tGg>tAg	p.W234*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.W258*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	234						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AACTGTACCTGGGGAATGAAT	0.552000													21	84					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713860	150713860	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:150713860C>T	ENST00000605938.1	-	10	2413	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R779K|ATG9B_ENST00000444312.1_Missense_Mutation_p.R265K	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	0					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCAGATCTCTCGGAGGCAG	0.627000													6	32					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30557491	30557491	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:30557491C>G	ENST00000326195.8	+	21	2170	c.2058C>G	c.(2056-2058)caC>caG	p.H686Q	ABCF1_ENST00000376545.3_Missense_Mutation_p.H648Q|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	686	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GAAAGAACCACCGGCTGGTAA	0.473000													4	91					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998574	26998574	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:26998574T>A	ENST00000376215.5	+	5	397	c.344T>A	c.(343-345)cTt>cAt	p.L115H	PDSS1_ENST00000376203.5_Missense_Mutation_p.L115H	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	115					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAGGAACTGCTTATATCAACA	0.408000													16	71					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33765667	33765667	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:33765667G>C	ENST00000389232.4	+	2	169	c.99G>C	c.(97-99)caG>caC	p.Q33H	RYR3_ENST00000415757.3_Missense_Mutation_p.Q33H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	33					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATAAGGAGCAGAGGAAGTTCT	0.557000													7	59					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42214273	42214273	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:42214273T>C	ENST00000541110.1	-	14	3294	c.2726A>G	c.(2725-2727)aAg>aGg	p.K909R	TRERF1_ENST00000340840.2_Missense_Mutation_p.K806R|TRERF1_ENST00000372922.4_Missense_Mutation_p.K889R|TRERF1_ENST00000354325.2_Missense_Mutation_p.K806R|TRERF1_ENST00000372917.4_Missense_Mutation_p.K806R			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	889	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGGTCCACTTGTCCGAACC	0.368000													13	66					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119058155	119058155	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:119058155C>T	ENST00000531114.1	+	3	1254	c.705C>T	c.(703-705)ttC>ttT	p.F235F	PDZD3_ENST00000392817.2_Silent_p.F235F|PDZD3_ENST00000322712.4_Silent_p.F169F|PDZD3_ENST00000525131.1_Silent_p.F156F|PDZD3_ENST00000355547.5_Silent_p.F169F			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	235	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GTTTTGGCTTCAGTGTCACCC	0.622000													3	34					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707714	50707714	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:50707714G>T	ENST00000330943.4	-	4	725	c.554C>A	c.(553-555)aCg>aAg	p.T185K	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	185	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTCCGGCCGCGTGAGGAAGTC	0.716000													3	14					1	1	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412758	105412758	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:105412758G>A	ENST00000333244.5	-	7	9149	c.9030C>T	c.(9028-9030)gcC>gcT	p.A3010A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3010						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCACTTCGGCCTCCACCT	0.612000													79	362					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99799628	99799628	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:99799628C>T	ENST00000259470.5	-	4	551	c.302G>A	c.(301-303)aGg>aAg	p.R101K	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.R101K	NM_001333.3	NP_001324.2			cathepsin V																		TTTCCCCTTCCTGAATTTCTG	0.418000													7	61					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179363038	179363038	+	Splice_Site	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:179363038A>T	ENST00000367618.3	+	10	1251	c.864A>T	c.(862-864)agA>agT	p.R288S	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.R288S	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	288										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTCATGCAGAGAGAGGTATG	0.388000													9	93					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674731	151674731	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:151674731A>G	ENST00000402676.2	+	4	5445	c.5205A>G	c.(5203-5205)caA>caG	p.Q1735Q	AKAP12_ENST00000253332.1_Silent_p.Q1735Q|AKAP12_ENST00000354675.6_Silent_p.Q1637Q|AKAP12_ENST00000359755.5_Silent_p.Q1630Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1735					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACCAAAACAAAAAGAGAAGG	0.468000													4	31					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88104368	88104368	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:88104368C>T	ENST00000273963.5	-	4	1280	c.939G>A	c.(937-939)agG>agA	p.R313R	KLHL8_ENST00000498875.2_Silent_p.R237R|KLHL8_ENST00000425278.2_Silent_p.R130R|KLHL8_ENST00000512111.1_Silent_p.R313R|KLHL8_ENST00000545252.1_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	313										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)		CAGTATGCTTCCTTGGGGTAG	0.388000													7	65					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148852778	148852778	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:148852778C>T	ENST00000367467.3	+	13	2020	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	515							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGTTCTCTCAGTGGGCAGA	0.498000													5	57					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52443461	52443461	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:52443461G>A	ENST00000293471.6	+	4	694		c.e4-1		ZNF613_ENST00000391794.4_Splice_Site	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCTTATTACAGGAATCACTGA	0.453000													28	120					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6975960	6975960	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:6975960G>C	ENST00000389658.3	-	45	6558	c.6465C>G	c.(6463-6465)ctC>ctG	p.L2155L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2155	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	p.L2155L(1)		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)	CGAGGTAGAAGAGAAGATTAT	0.418000													6	80					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065458	55065458	+	RNA	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:55065458G>T	ENST00000526016.1	-	0	250					NR_038174.2																						TTGTCTCTCTGTGCATCCCAC	0.473000													8	31					1.12685e-05	1.19646e-05	1	1	0
LYPLA2	11313	broad.mit.edu	37	1	24121190	24121190	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:24121190G>A	ENST00000374514.3	+	10	971	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	LYPLA2_ENST00000374501.1_Missense_Mutation_p.E155K|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_Missense_Mutation_p.G180E|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000400061.1_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	222					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGCTGTGAAGGAATTTCTTGA	0.582000													4	27					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90059211	90059211	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:90059211C>A	ENST00000405460.2	+	59	12306	c.12210C>A	c.(12208-12210)gtC>gtA	p.V4070V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4070					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)		AAGGAACCGTCCGACTTGAGT	0.448000													7	26					0.00198382	0.00205094	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70564782	70564782	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:70564782G>C	ENST00000302516.5	+	4	743	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	178					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCGGATTTGAAAATCCAAT	0.423000													37	178					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479963	130479963	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:130479963C>T	ENST00000373289.3	+	4	418	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	113							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GACTTCTCCTCGGCCGCCCAG	0.612000													12	34					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856135	856135	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:856135G>C	ENST00000590230.1	+	6	916	c.775G>C	c.(775-777)Gac>Cac	p.D259H	ELANE_ENST00000263621.1_Missense_Mutation_p.D259H			P08246	ELNE_HUMAN	elastase, neutrophil expressed	259					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCACCCCCGGGACCCGGACCC	0.617000													19	116					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196748987	196748987	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:196748987T>C	ENST00000471440.2	+	3	388	c.314T>C	c.(313-315)gTa>gCa	p.V105A	CFHR3_ENST00000367425.4_Missense_Mutation_p.V105A|CFHR3_ENST00000391985.3_Missense_Mutation_p.V105A					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AGAAAGTTTGTACAGGGTAAC	0.383000													4	45					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92511160	92511160	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:92511160C>G	ENST00000370383.4	+	4	645	c.547C>G	c.(547-549)Cct>Gct	p.P183A		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	183						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CATCTGTTATCCTGAAATGGT	0.368000													10	138					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151806689	151806689	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:151806689G>A	ENST00000370306.2	+	1	53	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	11						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCGCAGTGATCCTGCTGC	0.662000													9	32					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317147	154317147	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:154317147C>T	ENST00000368489.3	+	21	2271	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	743					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGACTCATCCCGCTCCGTAG	0.537000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	73					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72493773	72493773	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:72493773C>A	ENST00000373208.1	+	8	1350	c.1350C>A	c.(1348-1350)agC>agA	p.S450R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S447R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	447	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGAGCTCAGCCGCTACCTCC	0.642000													23	38					0.000720815	0.000749902	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389478	20389478	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:20389478C>T	ENST00000315915.4	+	1	738	c.713C>T	c.(712-714)tCt>tTt	p.S238F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGGCATTTTCTACGCTGGCT	0.403000													15	246					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862323	50862323	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:50862323G>C	ENST00000253719.2	-	8	1188	c.980C>G	c.(979-981)tCc>tGc	p.S327C	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	327					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AAGAAGGAAGGAGACTGCGGG	0.532000													18	71					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330565	125330565	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:125330565C>G	ENST00000304865.2	-	1	273	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACAGAAAACTCAAGAAGAAAT	0.463000													6	45					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338352	28338352	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:28338352G>A	ENST00000284987.5	-	1	480	c.359C>T	c.(358-360)aCg>aTg	p.T120M		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	120					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGGCGCACTCGTCCCGCCTCC	0.672000													8	45					0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167695	28167695	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:28167695G>A	ENST00000373931.4	+	4	811	c.16G>A	c.(16-18)Gat>Aat	p.D6N	PPP1R8_ENST00000311772.5_Missense_Mutation_p.D148N|PPP1R8_ENST00000236412.7_Intron	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	148	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGAGGATGATGAACTCAA	0.498000													7	66					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152214226	152214226	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:152214226C>A	ENST00000243347.3	+	1	121	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	16					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GGAAGACACTCAAGGATGGGG	0.388000													11	51					7.03913e-09	7.76374e-09	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671687	49671687	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:49671687T>C	ENST00000561648.1	-	4	1429	c.1376A>G	c.(1375-1377)cAc>cGc	p.H459R	ZNF423_ENST00000562520.1_Missense_Mutation_p.H399R|ZNF423_ENST00000563137.2_Missense_Mutation_p.H399R|ZNF423_ENST00000535559.1_Missense_Mutation_p.H342R|ZNF423_ENST00000567169.1_Missense_Mutation_p.H342R|ZNF423_ENST00000262383.2_Missense_Mutation_p.H459R|ZNF423_ENST00000562871.1_Missense_Mutation_p.H399R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	459					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCGAACGTGCTCGTTGAG	0.567000													24	79					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962174	10962174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:10962174C>T	ENST00000240691.2	-	1	593	c.501G>A	c.(499-501)tgG>tgA	p.W167*		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	167					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTTGAATTTCCAAGTAATGT	0.363000													10	49					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419814	60419814	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:60419814G>A	ENST00000360469.5	+	5	755	c.667G>A	c.(667-669)Gac>Aac	p.D223N	CDH4_ENST00000543233.1_Missense_Mutation_p.D149N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	223	Cadherin 1.			D -> N (in Ref. 1; AAA35627).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTTCAGCATTGACTCCATGTC	0.617000													8	57					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6962820	6962820	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:6962820C>G	ENST00000278319.5	+	4	1007	c.419C>G	c.(418-420)tCt>tGt	p.S140C	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.S140C|ZNF215_ENST00000414517.2_Missense_Mutation_p.S140C	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	140					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGCAAGGACTCTGCCCTGCAG	0.413000													9	26					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735529	40735529	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:40735529G>C	ENST00000373198.4	-	25	3579	c.3344C>G	c.(3343-3345)gCc>gGc	p.A1115G	PTPRT_ENST00000373184.1_Missense_Mutation_p.A1106G|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1095G|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1105G|PTPRT_ENST00000373201.1_Missense_Mutation_p.A1086G|PTPRT_ENST00000373187.1_Missense_Mutation_p.A1096G|PTPRT_ENST00000373193.3_Missense_Mutation_p.A1099G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGTCAATGGCAATGAAGCA	0.587000													11	68					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111631230	111631230	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:111631230C>T	ENST00000435970.1	-	32	9450	c.8634G>A	c.(8632-8634)ggG>ggA	p.G2878G	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Silent_p.G2956G|REV3L_ENST00000358835.3_Silent_p.G2956G|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.G2956G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2956					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCCGGGGGTCCCATAAATGA	0.483000								DNA polymerases (catalytic subunits)					9	65					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572551	140572551	+	Silent	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:140572551A>T	ENST00000239446.4	+	1	610	c.426A>T	c.(424-426)atA>atT	p.I142I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTAAAAATATCAGAAAATA	0.428000													17	84					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351644	117351644	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:117351644C>G	ENST00000160373.3	-	23	5030	c.4939G>C	c.(4939-4941)Gaa>Caa	p.E1647Q	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1647										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)		CAATTCACTTCTTTTGAGTTG	0.373000													4	83					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115373944	115373944	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:115373944C>T	ENST00000369358.4	-	29	3566	c.3322G>A	c.(3322-3324)Gat>Aat	p.D1108N	NRAP_ENST00000360478.3_Missense_Mutation_p.D1065N|NRAP_ENST00000359988.3_Missense_Mutation_p.D1100N|NRAP_ENST00000369360.3_Missense_Mutation_p.D1073N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1100						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCACTTACATCACTCTGCAGT	0.522000													30	67					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31619551	31619551	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:31619551G>T	ENST00000349552.1	+	1	97		c.e1+1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding	p.?(2)									ATCATGAACCGTGGTGAGCTT	0.642000													3	24					1	1	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69283040	69283040	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:69283040G>A	ENST00000338352.2	+	1	700	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	222	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGCTGGAGCTGAGGGCCCTGT	0.617000													11	26					0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13058008	13058008	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:13058008C>T	ENST00000333995.3	-	6	487	c.357G>A	c.(355-357)ctG>ctA	p.L119L	FAM9C_ENST00000380625.3_Silent_p.L119L|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	119						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCGGCAACTTCAGAGAAATTC	0.373000													18	49					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104120129	104120129	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:104120129G>A	ENST00000369983.3	+	12	1626	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	456					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCAAGGATGAGATGTGCCG	0.542000													12	83					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31191666	31191666	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:31191666C>T	ENST00000373765.4	-	3	615	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	194	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGCGGCTCGCTGGCGATC	0.682000													3	20					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41565534	41565534	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:41565534T>G	ENST00000263253.7	+	26	5419	c.4200T>G	c.(4198-4200)agT>agG	p.S1400R	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1400					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCTCGATAGTGTTCATTTCT	0.343000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				44	72					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399932	40399932	+	Silent	SNP	T	T	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:40399932T>G	ENST00000338305.6	-	2	1463	c.921A>C	c.(919-921)acA>acC	p.T307T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	307	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCACTTGAGTGTGGCCGCCT	0.602000													6	64					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025865	31025865	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:31025865G>T	ENST00000355537.3	+	3	2429	c.2282G>T	c.(2281-2283)cGg>cTg	p.R761L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAAACTTTCCGGACATCCCAT	0.607000													23	90					1.85244e-09	2.05688e-09	1	1	0
PKD2	5311	broad.mit.edu	37	4	88986959	88986959	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:88986959C>T	ENST00000237596.2	+	12	2352	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y	PKD2_ENST00000508588.1_Silent_p.Y180Y|PKD2_ENST00000502363.1_Silent_p.Y180Y|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	762	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCACAAAGTACGACCAAGATG	0.448000													10	75					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130357622	130357622	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:130357622G>A	ENST00000456951.1	-	7	1333	c.482C>T	c.(481-483)cCt>cTt	p.P161L	TSGA13_ENST00000356588.3_Missense_Mutation_p.P161L			Q96PP4	TSG13_HUMAN	testis specific, 13	161										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CAGTATCAAAGGGAAGATTGG	0.428000													3	39					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64410286	64410286	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:64410286T>C	ENST00000262043.3	+	9	3369	c.3029T>C	c.(3028-3030)cTt>cCt	p.L1010P	PHF3_ENST00000393387.1_Missense_Mutation_p.L1010P			Q92576	PHF3_HUMAN	PHD finger protein 3	1010	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTGATCATCTTATCAGAATG	0.338000													10	31					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806819	27806819	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:27806819G>A	ENST00000396980.3	+	1	380	c.380G>A	c.(379-381)tGa>tAa	p.*127*	HIST1H2BN_ENST00000606613.1_Intron	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	0					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGTTCCAAGTGAGCCCGCCCA	0.627000													5	53					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37280705	37280705	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:37280705G>A	ENST00000373491.3	+	9	1140	c.994G>A	c.(994-996)Gag>Aag	p.E332K		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	332	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGAGGATGTGGAGAACTTTGA	0.443000													12	84					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36100371	36100371	+	Missense_Mutation	SNP	G	G	A	rs139919356		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:36100371G>A	ENST00000377966.3	+	11	1695	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	377						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.G377R(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTCAGATCAAGGAGCCATGAA	0.388000													6	51					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235605180	235605180	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:235605180T>A	ENST00000543662.1	+	15	1581	c.1475T>A	c.(1474-1476)cTg>cAg	p.L492Q	TBCE_ENST00000406207.1_Missense_Mutation_p.L441Q|TBCE_ENST00000366601.3_Missense_Mutation_p.L441Q|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	441					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CCACTTATGCTGAAAAACCAG	0.353000													9	33					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15961342	15961342	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:15961342A>G	ENST00000255759.6	-	5	509	c.480T>C	c.(478-480)agT>agC	p.S160S	FOPNL_ENST00000573968.1_Silent_p.S86S|FOPNL_ENST00000573429.1_Silent_p.S184S|FOPNL_ENST00000573396.1_3'UTR|FOPNL_ENST00000575744.1_Silent_p.S94S|FOPNL_ENST00000575073.1_3'UTR	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	160					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CAATGTTAGTACTTTTCTGTT	0.328000													15	63					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321629	52321629	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:52321629G>A	ENST00000356297.4	-	17	2655	c.2555C>T	c.(2554-2556)cCc>cTc	p.P852L	PXDNL_ENST00000543296.1_Missense_Mutation_p.P852L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	852					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGCCCCGGGGGTCGGCGTG	0.697000													6	40					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214817934	214817934	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:214817934C>G	ENST00000366955.3	+	13	5189	c.5021C>G	c.(5020-5022)tCa>tGa	p.S1674*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1770					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGACATATCAAAAGAACAT	0.328000													7	82					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881130	18881130	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:18881130C>T	ENST00000388995.6	-	5	2072	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	FAM83G_ENST00000345041.4_Missense_Mutation_p.E617K|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E617K|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	617										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAGTACTCCTCTGACACAGAG	0.657000													8	54					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983866	110983866	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:110983866T>C	ENST00000354300.3	-	3	709	c.421A>G	c.(421-423)Att>Gtt	p.I141V		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	141	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGCACCACAATGCAGGCGGTG	0.502000													7	32					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799863	20799863	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:20799863G>C	ENST00000359062.3	+	12	2584	c.2544G>C	c.(2542-2544)ctG>ctC	p.L848L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	848	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATGCTTTCCTGGTTGCAACTA	0.423000													14	69					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43592037	43592037	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:43592037C>T	ENST00000338702.3	+	9	1170	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	MAOA_ENST00000542639.1_Silent_p.I216I	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	349					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGCCTGCCATCATGGGGTAGG	0.423000													15	54					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836358	47836358	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:47836358G>C	ENST00000359568.5	+	30	6633	c.6526G>C	c.(6526-6528)Gat>Cat	p.D2176H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2176					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGAAATGCCAGATTCTCCCAT	0.483000													13	107					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728767	50728767	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:50728767C>T	ENST00000449103.1	-	3	387	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E83K			O15031	PLXB2_HUMAN	plexin B2	83	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCTGGCCTCGATGGGCGGC	0.647000													20	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590301	179590301	+	Missense_Mutation	SNP	A	A	G	rs142794598	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179590301A>G	ENST00000589042.1	-	71	20854	c.20630T>C	c.(20629-20631)aTa>aCa	p.I6877T	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5633T|TTN_ENST00000591111.1_Missense_Mutation_p.I6560T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6560	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I5633T(1)		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)			GGCGCCTTCTATGGATGCTTG	0.428000													5	52					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23503124	23503124	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:23503124G>A	ENST00000263116.2	+	10	916	c.876G>A	c.(874-876)gtG>gtA	p.V292V	RAB36_ENST00000341989.4_Silent_p.V270V	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	292					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AGCAGTCGGTGCTGCAGGACC	0.617000													17	28					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115364602	115364602	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:115364602G>A	ENST00000369358.4	-	35	4261	c.4017C>T	c.(4015-4017)atC>atT	p.I1339I	NRAP_ENST00000360478.3_Silent_p.I1296I|NRAP_ENST00000359988.3_Silent_p.I1331I|NRAP_ENST00000369360.3_Silent_p.I1304I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1331						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCAGTGCTGGATCCGGGGGT	0.607000													17	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:7577544A>G	ENST00000420246.2	-	7	869	c.737T>C	c.(736-738)aTg>aCg	p.M246T	TP53_ENST00000413465.2_Missense_Mutation_p.M246T|TP53_ENST00000445888.2_Missense_Mutation_p.M246T|TP53_ENST00000455263.2_Missense_Mutation_p.M246T|TP53_ENST00000269305.4_Missense_Mutation_p.M246T|TP53_ENST00000359597.4_Missense_Mutation_p.M246T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CCTCCGGTTCATGCCGCCCAT	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)			16	44					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297456	62297456	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:62297456C>G	ENST00000378024.4	-	5	4707	c.4433G>C	c.(4432-4434)gGa>gCa	p.G1478A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1478					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTATCTCTCCTTCTACTTT	0.418000													51	214					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144922373	144922373	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:144922373G>A	ENST00000283126.7	-	2	156	c.101C>T	c.(100-102)tCa>tTa	p.S34L	GYPB_ENST00000502664.1_Missense_Mutation_p.S34L|GYPB_ENST00000429670.2_Missense_Mutation_p.S34L|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Intron					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CTTTGTGACTGAAGAAGAGGT	0.348000													42	94					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156236065	156236065	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:156236065A>G	ENST00000361813.5	-	12	1506	c.1362T>C	c.(1360-1362)tcT>tcC	p.S454S	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	454					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGGAGAGGCGAGAGAACTTAC	0.577000													12	88					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44170906	44170906	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:44170906C>T	ENST00000260665.7	-	23	2481	c.2424G>A	c.(2422-2424)ttG>ttA	p.L808L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	808					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCTTCATGCAACTGTTTTA	0.388000													11	83					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6425014	6425014	+	Missense_Mutation	SNP	C	C	T	rs139147263	by1000genomes	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:6425014C>T	ENST00000389906.2	-	3	859	c.760G>A	c.(760-762)Gac>Aac	p.D254N	APBB1_ENST00000530885.1_Missense_Mutation_p.D34N|APBB1_ENST00000608645.1_5'UTR|APBB1_ENST00000608394.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.D254N|APBB1_ENST00000608655.1_Missense_Mutation_p.D34N|APBB1_ENST00000608704.1_5'UTR|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609360.1_Missense_Mutation_p.D254N|APBB1_ENST00000609331.1_Missense_Mutation_p.D19N|APBB1_ENST00000299402.6_Missense_Mutation_p.D254N			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	254	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCGGCAGGTCGGAATCCGTC	0.627000													16	54					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220033428	220033428	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:220033428G>A	ENST00000455516.2	-	5	691	c.644C>T	c.(643-645)tCt>tTt	p.S215F	SLC23A3_ENST00000295738.7_Missense_Mutation_p.S207F|SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000409878.3_Missense_Mutation_p.S207F	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	207					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTGGGCAGAGAGCCCTGC	0.662000													4	19					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256197	12256197	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:12256197C>T	ENST00000355738.1	-	4	1185	c.836G>A	c.(835-837)aGc>aAc	p.S279N	ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.S279N|ZNF625_ENST00000439556.2_Missense_Mutation_p.S345N			Q96I27	ZN625_HUMAN	zinc finger protein 625	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GATTTTAACGCTCGAGGCACA	0.453000													18	110					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747017	10747017	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:10747017G>A	ENST00000586078.1	+	15	1361	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	SLC44A2_ENST00000335757.5_Missense_Mutation_p.E418K|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E416K	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	418					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTCCTCCAATGAGTCCCGCCA	0.612000													17	46					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287753	79287753	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:79287753G>T	ENST00000332900.1	-	3	637	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	30						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			AGATAAATCAGCTGCCCGATC	0.602000													16	57					3.52763e-06	3.78452e-06	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39818080	39818080	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:39818080G>C	ENST00000553728.1	+	27	3965	c.3752G>C	c.(3751-3753)gGa>gCa	p.G1251A	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.G687A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000280083.3_Missense_Mutation_p.G716A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.G673A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.G716A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.G687A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.G704A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.G641A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.G687A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.G721A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.G636A																							TTGAGAAGAGGACCTCCTTTC	0.532000													35	159					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265497	41265497	+	Silent	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:41265497T>A	ENST00000243563.3	+	3	958	c.408T>A	c.(406-408)gcT>gcA	p.A136A	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	136						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGTGGGGGCTGTCCAGGGGC	0.682000													3	25					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047169	220047169	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:220047169G>C	ENST00000430297.2	+	9	1586	c.1450G>C	c.(1450-1452)Gaa>Caa	p.E484Q		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	484	Poly-Glu.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGAGGAAGAAGAGGCACT	0.607000													18	50					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38900725	38900725	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:38900725C>T	ENST00000454404.2	-	17	2088	c.1875G>A	c.(1873-1875)ccG>ccA	p.P625P	RASGRP4_ENST00000293062.9_Silent_p.P562P|RASGRP4_ENST00000426920.2_Silent_p.P470P|RASGRP4_ENST00000586305.1_Silent_p.P645P|RASGRP4_ENST00000433821.2_Silent_p.P567P|RASGRP4_ENST00000587753.1_Silent_p.P590P|RASGRP4_ENST00000587738.1_Silent_p.P659P	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	659					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTCCATCACCGGGCAGGGGA	0.552000													7	36					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70517109	70517109	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr8:70517109G>T	ENST00000260128.4	+	13	2036	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	SULF1_ENST00000402687.4_Missense_Mutation_p.R440L|SULF1_ENST00000419716.3_Missense_Mutation_p.R440L|SULF1_ENST00000458141.2_Missense_Mutation_p.R440L|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	440					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAATATGAACGGGTCAAAGAA	0.468000													11	81					6.40141e-05	6.74478e-05	1	1	0
CCDC47	57003	broad.mit.edu	37	17	61843340	61843340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:61843340C>A	ENST00000225726.5	-	2	578	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CCDC47_ENST00000403162.3_Nonsense_Mutation_p.E66*|CCDC47_ENST00000582252.1_Nonsense_Mutation_p.E66*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	66						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACAGTGGTCTCATCTTCATCA	0.398000													38	240					2.46787e-29	2.81994e-29	1	1	0
ATP6V0A2	23545	broad.mit.edu	37	12	124209225	124209225	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:124209225G>A	ENST00000330342.3	+	4	567	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	107					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTCGAGGTTGAACTGAGAGA	0.388000													34	123					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98655286	98655286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr13:98655286C>T	ENST00000261574.5	+	16	1726	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*	IPO5_ENST00000490680.1_Nonsense_Mutation_p.Q498*|IPO5_ENST00000539640.1_Nonsense_Mutation_p.Q373*|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	498					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTGAAGCTTCAAGAGGTAAG	0.388000													21	98					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46712958	46712958	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:46712958C>A	ENST00000299138.7	-	6	675	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	206					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTTTTTTCTCTATCTCGGCT	0.428000													5	66					5.9392e-07	6.45565e-07	1	1	0
ECE1	1889	broad.mit.edu	37	1	21599236	21599236	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:21599236C>T	ENST00000415912.2	-	4	526	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ECE1_ENST00000436918.2_Missense_Mutation_p.S150N|ECE1_ENST00000374893.6_Missense_Mutation_p.S150N|ECE1_ENST00000264205.6_Missense_Mutation_p.S147N|ECE1_ENST00000357071.4_Missense_Mutation_p.S138N	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	150					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCAGAGGTTGCTGAAGGTCCC	0.592000													5	40					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040222	87040222	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:87040222G>T	ENST00000370563.3	+	10	1509		c.e10-1		RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4							apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TATTTAAACAGCTCGAAAGTA	0.333000													16	50					1.02788e-11	1.15218e-11	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129785675	129785675	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:129785675C>G	ENST00000358825.5	-	17	2649	c.2418G>C	c.(2416-2418)aaG>aaC	p.K806N	PRDM10_ENST00000528746.1_Missense_Mutation_p.K776N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K716N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K720N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K720N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K802N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGGTCGGAGCTTCCGAATGC	0.602000													19	86					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10535154	10535154	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:10535154C>A	ENST00000317552.4	-	2	834	c.434G>T	c.(433-435)tGc>tTc	p.C145F	MID1_ENST00000453318.2_Missense_Mutation_p.C145F|MID1_ENST00000380779.1_Missense_Mutation_p.C145F|MID1_ENST00000380780.1_Missense_Mutation_p.C145F|MID1_ENST00000380782.2_Missense_Mutation_p.C145F|MID1_ENST00000380787.1_Missense_Mutation_p.C145F|MID1_ENST00000380785.1_Missense_Mutation_p.C145F	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	145					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCTTTCAGGCACTCGTCACA	0.547000													9	25					3.09899e-07	3.37736e-07	1	1	0
RIN3	79890	broad.mit.edu	37	14	93118661	93118661	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:93118661G>C	ENST00000216487.7	+	6	1426	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	423	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGACGGCCCTGAGGACACGCC	0.647000													26	35					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053885	238053885	+	Silent	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:238053885C>G	ENST00000366570.4	-	1	209	c.51G>C	c.(49-51)gtG>gtC	p.V17V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	17					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGGCCACTCACAGCAAGAG	0.552000													5	18					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3425668	3425668	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:3425668C>T	ENST00000356575.4	-	12	1725	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	MEGF6_ENST00000294599.4_Missense_Mutation_p.R395Q	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	500						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTGTTCGCCCCGCAACTCTGC	0.687000													7	20					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120182879	120182879	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:120182879A>G	ENST00000450251.1	+	8	1376	c.832A>G	c.(832-834)Aga>Gga	p.R278G	USP53_ENST00000274030.6_Missense_Mutation_p.R278G			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	278					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCTTTTTTATAGAGTTACTGA	0.313000													8	41					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197059408	197059408	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:197059408G>C	ENST00000367409.4	-	24	10003	c.9747C>G	c.(9745-9747)ctC>ctG	p.L3249L	ASPM_ENST00000367408.1_Silent_p.L914L|ASPM_ENST00000294732.7_Silent_p.L1664L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3249					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTTTGTAGAGTTTGTTTT	0.353000													6	44					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794549	15794549	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:15794549C>T	ENST00000550308.1	+	7	1274	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F12_ENST00000324632.10_Silent_p.F298F	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTTGGATTTCATTGATGTGC	0.438000													6	134					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954614	30954614	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:30954614G>A	ENST00000376296.3	+	2	903	c.662G>A	c.(661-663)gGg>gAg	p.G221E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	221	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAATGGGGCTGGCACA	0.632000													31	248					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118116924	118116924	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:118116924T>A	ENST00000333254.3	+	6	732	c.481T>A	c.(481-483)Tta>Ata	p.L161I		NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		TAGTAGCCAGTTAAATGAACT	0.284000													3	32					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255924	240255924	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:240255924G>A	ENST00000319653.9	+	1	745	c.515G>A	c.(514-516)gGa>gAa	p.G172E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	172					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)			GCGCAGGATGGACAAAGGACC	0.632000													8	26					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108298	44108298	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:44108298C>T	ENST00000217425.5	+	3	266	c.240C>T	c.(238-240)caC>caT	p.H80H	WFDC2_ENST00000342873.3_5'UTR|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000488143.1_3'UTR			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				tccactggcacctaaagacac	0.473000													12	78					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951328	10951328	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:10951328A>G	ENST00000298232.7	-	9	697	c.330T>C	c.(328-330)tcT>tcC	p.S110S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S90S|TPTE_ENST00000361285.4_Silent_p.S128S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	128					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CTAGAGAAATAGAACGATACT	0.343000													8	109					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058302	170058302	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:170058302T>C	ENST00000263816.3	-	44	8573	c.8288A>G	c.(8287-8289)tAc>tGc	p.Y2763C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2763	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAGTCATTGTAGTAATCACA	0.502000													13	60					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57058962	57058962	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:57058962G>A	ENST00000301318.3	+	3	457	c.386G>A	c.(385-387)aGg>aAg	p.R129K	ZFP28_ENST00000591844.1_Missense_Mutation_p.R129K|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	129	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AACTTGTACAGGAAGGTGATG	0.532000													13	60					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650549	81650549	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr15:81650549C>T	ENST00000558726.1	-	7	819	c.684G>A	c.(682-684)ttG>ttA	p.L228L	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L228L			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	228						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACGCCAAGGGCAGCC	0.458000													16	48					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396288	8396288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:8396288C>A	ENST00000360416.3	-	33	4402	c.4264G>T	c.(4264-4266)Gaa>Taa	p.E1422*	MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1407*|MYH10_ENST00000269243.4_Nonsense_Mutation_p.E1391*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1412*	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1391					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTGGCTTCTTCCAGACTTTCA	0.488000													18	118					9.16793e-09	1.00982e-08	1	1	0
PAH	5053	broad.mit.edu	37	12	103248974	103248974	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:103248974A>T	ENST00000553106.1	-	6	1118	c.646T>A	c.(646-648)Tac>Aac	p.Y216N	PAH_ENST00000307000.2_Missense_Mutation_p.Y211N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	216					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAGCCACAGTACTTTTCAAGA	0.438000													9	47					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705336	50705336	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:50705336C>A	ENST00000442544.2	+	9	2039	c.1423C>A	c.(1423-1425)Cga>Aga	p.R475R	DCC_ENST00000412726.1_Silent_p.R323R|DCC_ENST00000581580.1_Silent_p.R130R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	475	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCAGGGAACGAGCATTGAA	0.428000													8	20					0.0477658	0.0484112	1	1	0
DMWD	1762	broad.mit.edu	37	19	46289785	46289785	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:46289785C>T	ENST00000270223.6	-	3	1014	c.969G>A	c.(967-969)aaG>aaA	p.K323K	DMWD_ENST00000377735.3_Silent_p.K323K	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	323					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAAAGTAGCTCTTCATGAGCC	0.647000													11	70					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21857932	21857932	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:21857932G>T	ENST00000328843.6	+	66	10718	c.10687G>T	c.(10687-10689)Ggc>Tgc	p.G3563C	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3556C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3563	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCACTACTTGGCAGGAACAC	0.353000									Kartagener syndrome				9	48					2.17888e-05	2.30458e-05	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133531452	133531452	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:133531452C>T	ENST00000409261.1	-	16	5438	c.5065G>A	c.(5065-5067)Gaa>Aaa	p.E1689K	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E370K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E370K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1689K|NCKAP5_ENST00000473859.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1689							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAAGTTTTCATTTGCCTCT	0.343000													12	77					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158581075	158581075	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:158581075G>C	ENST00000251527.5	-	5	827	c.762C>G	c.(760-762)atC>atG	p.I254M		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	282						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AATATCGTTTGATCTCCAAAT	0.294000													10	36					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058476	95058476	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:95058476C>T	ENST00000329597.7	+	6	1331	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554866.1_Missense_Mutation_p.S374L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S374L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S374L	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	374		Reactive bond.			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)	ACTTTCAGGTCGGCCCGCCTG	0.557000													55	281					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8456477	8456477	+	Silent	SNP	C	C	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:8456477C>A	ENST00000389737.4	+	6	1140	c.1140C>A	c.(1138-1140)ggC>ggA	p.G380G	RP11-689P11.3_ENST00000515186.1_RNA|TRMT44_ENST00000513449.2_Silent_p.G139G	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		AGCATCCAGGCAGAGGGATTG	0.398000													8	48					5.18039e-06	5.52888e-06	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72848182	72848182	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:72848182G>A	ENST00000293190.5	-	3	1114	c.968C>T	c.(967-969)cCc>cTc	p.P323L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P323L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	323					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	AGGGCTGACGGGCCCAGGGTG	0.726000													3	21					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38256066	38256066	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:38256066T>C	ENST00000481247.1	-	8	1587	c.1436A>G	c.(1435-1437)tAc>tGc	p.Y479C	BTBD9_ENST00000314100.6_Missense_Mutation_p.Y411C|BTBD9_ENST00000408958.1_Missense_Mutation_p.Y411C|BTBD9_ENST00000403056.1_Missense_Mutation_p.Y479C|BTBD9_ENST00000419706.2_Missense_Mutation_p.Y449C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	479					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCCAATCATGTACGGTTGTGC	0.398000													17	96					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26351204	26351204	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr22:26351204G>A	ENST00000335473.7	+	39	6280	c.6030G>A	c.(6028-6030)gcG>gcA	p.A2010A	MYO18B_ENST00000407587.2_Silent_p.A2011A|MYO18B_ENST00000536101.1_Silent_p.A2010A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2010	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A2011A(2)		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						TTTCACAGGCGGCCACCTCCG	0.647000													3	16					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135010624	135010624	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:135010624A>T	ENST00000304613.3	+	11	1818	c.1797A>T	c.(1795-1797)agA>agT	p.R599S	KNDC1_ENST00000368572.2_Missense_Mutation_p.R599S|KNDC1_ENST00000368571.2_Missense_Mutation_p.R534S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	599	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCACCTCAGAGCTTCCATCT	0.657000													7	30					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273615	65273615	+	RNA	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:65273615C>T	ENST00000534336.1	+	0	8383					NR_002819.2																						CTCCTGGTTTCCAGGACGGGG	0.418000													6	38					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056643	13056643	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:13056643G>A	ENST00000506447.1	+	19	4134	c.4054G>A	c.(4054-4056)Gtt>Att	p.V1352I	CEP192_ENST00000325971.8_Missense_Mutation_p.V756I|CEP192_ENST00000430049.2_Missense_Mutation_p.V877I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	947										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTGCCGTCTGTTGGTACAAA	0.408000													12	167					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	475246	475246	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:475246C>G	ENST00000399788.2	-	4	753	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.E131Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	131	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTGACCATTTCAAAACCTCCT	0.383000			T	NUP98	AML								34	195					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136583823	136583823	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:136583823C>G	ENST00000371867.1	-	7	946	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SARDH_ENST00000439388.1_Intron|SARDH_ENST00000371872.4_Intron|SARDH_ENST00000422262.2_Intron			Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	0					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGCAGACCTTCTCTGTGGATG	0.557000													27	137					0	0	1	0	0
PPP1R14B	26472	broad.mit.edu	37	11	64012231	64012231	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:64012231T>A	ENST00000309318.3	-	4	706	c.439A>T	c.(439-441)Aag>Tag	p.K147*	PPP1R14B_ENST00000542235.1_Nonsense_Mutation_p.K72*|PPP1R14B_ENST00000392210.2_Nonsense_Mutation_p.K45*	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	147					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						GACCGTCACTTCTTCTGGGGT	0.617000													4	45					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203669380	203669380	+	Silent	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:203669380G>C	ENST00000357681.5	+	5	1819	c.696G>C	c.(694-696)ctG>ctC	p.L232L	ATP2B4_ENST00000391954.2_Silent_p.L232L|ATP2B4_ENST00000367218.3_Silent_p.L232L|ATP2B4_ENST00000367219.3_Silent_p.L232L|ATP2B4_ENST00000341360.2_Silent_p.L232L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	232					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAATGATCTGAAGATTGATG	0.517000													8	81					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894789	127894789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:127894789G>A	ENST00000308868.4	+	3	528	c.477G>A	c.(475-477)tgG>tgA	p.W159*		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	159					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						ACATGCTGTGGCAGCTGGACC	0.597000													3	40					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732263	126732263	+	Missense_Mutation	SNP	G	G	A	rs78069165	byFrequency	TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:126732263G>A	ENST00000274473.6	+	7	719	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.R151Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.R151Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.R151Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	151	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCACCAGCCGGTGCCAGTGC	0.612000													10	80					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651692	6651692	+	Silent	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:6651692G>A	ENST00000299441.3	-	10	4744	c.4333C>T	c.(4333-4335)Ctg>Ttg	p.L1445L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1445	Cadherin 14.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTGGCAGCGCCAGCGCC	0.741000													7	16					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13825988	13825988	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr18:13825988T>C	ENST00000324750.3	+	1	446	c.224T>C	c.(223-225)gTg>gCg	p.V75A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	75					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TACTTCTTCGTGTGCAGCCTG	0.522000													10	48					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33975488	33975488	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr21:33975488T>C	ENST00000382549.4	-	5	991	c.649A>G	c.(649-651)Atc>Gtc	p.I217V	AP000275.65_ENST00000553001.1_Missense_Mutation_p.I217V|C21orf59_ENST00000540881.1_Missense_Mutation_p.I161V|C21orf59_ENST00000290155.3_Missense_Mutation_p.I217V			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	217						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ATCTTGGCGATAATTTTGGTT	0.403000													10	89					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306210	23306210	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr7:23306210T>C	ENST00000258733.4	+	7	1388	c.1093T>C	c.(1093-1095)Ttt>Ctt	p.F365L	GPNMB_ENST00000453162.2_Missense_Mutation_p.F319L|GPNMB_ENST00000539136.1_Missense_Mutation_p.F266L|GPNMB_ENST00000381990.2_Missense_Mutation_p.F377L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	377					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ATATGGCCACTTTCAAGCCAC	0.478000													8	69					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288232	74288232	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:74288232C>T	ENST00000262765.5	-	4	2257	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	693	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						gaccaaaccacgctgatctgc	0.552000													12	73					0	0	1	0	0
METTL9	51108	broad.mit.edu	37	16	21629243	21629243	+	Silent	SNP	T	T	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:21629243T>C	ENST00000358154.3	+	3	672	c.414T>C	c.(412-414)ctT>ctC	p.L138L	METTL9_ENST00000396014.4_Silent_p.L138L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	138										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		AGAGACTGCTTAAAATTAATC	0.378000													16	100					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4763543	4763543	+	Silent	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:4763543A>G	ENST00000266544.5	+	2	155	c.135A>G	c.(133-135)aaA>aaG	p.K45K	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	45					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTCATGGGAAAGGTGGACGTT	0.517000													19	84					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064403	9064403	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:9064403C>T	ENST00000397910.4	-	3	23246	c.23043G>A	c.(23041-23043)gtG>gtA	p.V7681V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7683	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTTCTTTCACAAAGGGAG	0.547000													7	25					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35482627	35482627	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:35482627G>C	ENST00000556994.1	+	10	1109	c.712G>C	c.(712-714)Gat>Cat	p.D238H	SRP54_ENST00000216774.6_Missense_Mutation_p.D238H|SRP54_ENST00000546080.1_Missense_Mutation_p.D189H|SRP54_ENST00000555557.1_Missense_Mutation_p.D174H			P61011	SRP54_HUMAN	signal recognition particle 54kDa	238	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCTTTTAAAGATAAAGTAGA	0.408000													18	49					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521633	89521633	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:89521633G>T	ENST00000336596.2	+	16	2935	c.2710G>T	c.(2710-2712)Gac>Tac	p.D904Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D904Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	904						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTTCTTCTGGACCAAAGCAA	0.468000										TSP Lung(6;0.00050)			27	146					2.48779e-11	2.77731e-11	1	1	0
MKI67	4288	broad.mit.edu	37	10	129906010	129906010	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:129906010G>A	ENST00000368654.3	-	13	4469	c.4094C>T	c.(4093-4095)gCt>gTt	p.A1365V	MKI67_ENST00000368653.3_Missense_Mutation_p.A1005V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1365	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTTGCCAGCAGCCACTGC	0.522000													21	131					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117559909	117559909	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:117559909G>A	ENST00000256652.4	+	5	1484	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	CD101_ENST00000369470.1_Missense_Mutation_p.G476R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	476	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCCTCCTATGGGGTACCCAG	0.582000													8	69					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57937714	57937714	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:57937714T>A	ENST00000325752.3	-	9	1608	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	TUBD1_ENST00000592426.1_Missense_Mutation_p.E444V|TUBD1_ENST00000376094.4_Missense_Mutation_p.E342V|TUBD1_ENST00000340993.6_Missense_Mutation_p.E389V|TUBD1_ENST00000539018.1_Missense_Mutation_p.E228V|TUBD1_ENST00000394239.3_Missense_Mutation_p.E387V|TUBD1_ENST00000346141.6_Missense_Mutation_p.E190V	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	444					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AACAACCTGCTCTAATGACGT	0.328000													8	50					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68578687	68578687	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:68578687C>G	ENST00000396496.2	-	12	1512	c.1405G>C	c.(1405-1407)Gat>Cat	p.D469H	CCDC125_ENST00000396499.1_Missense_Mutation_p.D469H|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000511257.1_Missense_Mutation_p.D344H			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	469						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTATAGGATCACCCAAAACA	0.363000													9	88					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135342014	135342014	+	Silent	SNP	G	G	A	rs77188198		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:135342014G>A	ENST00000463117.2	+	4	479	c.207G>A	c.(205-207)acG>acA	p.T69T	CYP2E1_ENST00000252945.3_Silent_p.T69T|CYP2E1_ENST00000480558.1_3'UTR|AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	69					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGTGTTCACGCTGTACGTGG	0.677000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				8	17					0	0	1	0	0
MRPS26	64949	broad.mit.edu	37	20	3026812	3026812	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr20:3026812C>T	ENST00000380325.3	+	1	222	c.98C>T	c.(97-99)cCg>cTg	p.P33L		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	33					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CGCCACGACCCGCTGGCCAAA	0.711000													3	30					0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27826877	27826877	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr10:27826877C>G	ENST00000356940.6	+	7	620	c.518C>G	c.(517-519)cCt>cGt	p.P173R	RAB18_ENST00000535776.1_Missense_Mutation_p.P109R|RAB18_ENST00000375802.3_Missense_Mutation_p.P128R|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	173					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						ATTCAGACCCCTGGACTGTGG	0.443000													17	37					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121366264	121366264	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:121366264C>T	ENST00000314583.3	-	4	281	c.190G>A	c.(190-192)Gag>Aag	p.E64K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E64K	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	64	Involved in HAX-1 binding.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACATCATGCTCCTCTGATACT	0.483000													20	114					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929630	121929630	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:121929630A>C	ENST00000265922.3	-	8	2479	c.2018T>G	c.(2017-2019)gTg>gGg	p.V673G	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	673																	GACCTGCTGCACTGCACTGCG	0.542000													18	110					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45412586	45412586	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:45412586G>C	ENST00000331493.2	+	5	466	c.55G>C	c.(55-57)Gat>Cat	p.D19H	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D19H|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000520802.1_Intron|ITGB3_ENST00000560629.1_3'UTR	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGACTTATTAGATGATGGCTC	0.348000													20	71					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032369	30032369	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr11:30032369C>T	ENST00000328224.6	-	2	3090	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	619						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAGAGATTCCTTAACTCCTT	0.458000													9	56					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760421	54760421	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr19:54760421A>G	ENST00000450632.1	-	3	363	c.286T>C	c.(286-288)Tac>Cac	p.Y96H	LILRB5_ENST00000316219.5_Missense_Mutation_p.Y96H|LILRB5_ENST00000345866.6_Missense_Mutation_p.Y96H|LILRB5_ENST00000449561.2_Missense_Mutation_p.Y96H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	96	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGCAGCGGTATCGCCCTGCA	0.632000													55	201					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110375	72110375	+	Silent	SNP	C	C	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:72110375C>T	ENST00000540303.2	+	5	474	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Silent_p.L185L|HPR_ENST00000356967.5_Silent_p.L148L	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	148	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AAATCTCTTCCTGAACCATTC	0.468000													10	47					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159002320	159002320	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:159002320A>C	ENST00000295809.7	+	7	1423	c.1168A>C	c.(1168-1170)Aaa>Caa	p.K390Q	IFI16_ENST00000448393.2_Missense_Mutation_p.K390Q|IFI16_ENST00000430894.2_Missense_Mutation_p.K338Q|IFI16_ENST00000340979.6_Missense_Mutation_p.K390Q|IFI16_ENST00000359709.3_Missense_Mutation_p.K334Q|IFI16_ENST00000368131.4_Missense_Mutation_p.K390Q|IFI16_ENST00000368132.3_Missense_Mutation_p.K390Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	390					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.K390*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAGATAAAGAAAAAAACAAA	0.378000													3	30					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173799818	173799818	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:173799818G>C	ENST00000361951.4	+	4	1042	c.315G>C	c.(313-315)aaG>aaC	p.K105N	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	105					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CTGTGAAGAAGATTTTATGTG	0.423000													3	62					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150967125	150967126	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:150967125_150967126delAG	ENST00000368947.4	+	13	1401_1402	c.925_926delAG	c.(925-927)agafs	p.R309fs		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	309					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGAGTATCAGAGCTGAGTTC	0.495													52	157	---	---	---	---					
APCS	325	broad.mit.edu	37	1	159557899	159557899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:159557899delG	ENST00000255040.2	+	2	170	c.73delG	c.(73-75)gggfs	p.G25fs		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	25	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G25W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGACCTCAGTGGGAAGGTGTT	0.393													18	93	---	---	---	---					
PCNXL2	80003	broad.mit.edu	37	1	233394724	233394725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr1:233394724_233394725insT	ENST00000258229.9	-	5	1117_1118	c.883_884insA	c.(883-885)atafs	p.I295fs	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCGTTCCCTTATGGAGCCCCGG	0.550													17	83	---	---	---	---					
IFIH1	64135	broad.mit.edu	37	2	163174371	163174372	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:163174371_163174372delTC	ENST00000263642.2	-	1	841_842	c.446_447delGA	c.(445-447)agafs	p.R149fs	IFIH1_ENST00000421365.2_Frame_Shift_Del_p.R149fs	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	149	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTACCCGGTTTCTGTCTTCAAT	0.490													17	487	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179428292	179428292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr2:179428292delT	ENST00000589042.1	-	326	82791	c.82567delA	c.(82567-82569)acafs	p.T27523fs	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T18458fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T24955fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T18583fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T18650fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.T25882fs|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25882	Fibronectin type-III 100.						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)			TCCGTTAATGTTTTCTTGTTG	0.488													35	137	---	---	---	---					
SLITRK3	22865	broad.mit.edu	37	3	164906418	164906418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr3:164906418delG	ENST00000475390.1	-	2	2644	c.2201delC	c.(2200-2202)cctfs	p.P735fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.P735fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	735						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACCCACGGGAGGGGCCTTCTC	0.567										HNSCC(40;0.11)			8	76	---	---	---	---					
ANAPC4	29945	broad.mit.edu	37	4	25419310	25419311	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr4:25419310_25419311delTA	ENST00000315368.3	+	28	2290_2291	c.2148_2149delTA	c.(2146-2151)agtatgfs	p.M717fs	ANAPC4_ENST00000510092.1_Frame_Shift_Del_p.M718fs	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	717					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACTGGAAAGTATGAAAGCACA	0.411													22	112	---	---	---	---					
CXXC5	51523	broad.mit.edu	37	5	139060445	139060446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr5:139060445_139060446insC	ENST00000302517.3	+	2	1051_1052	c.337_338insC	c.(337-339)tccfs	p.S113fs	CXXC5_ENST00000511048.1_Frame_Shift_Ins_p.S113fs	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGCCTCCCTGTTGGCC	0.619													13	104	---	---	---	---					
VARS2	57176	broad.mit.edu	37	6	30887570	30887570	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr6:30887570delG	ENST00000321897.5	+	11	1742	c.1110delG	c.(1108-1110)atgfs	p.M370fs	VARS2_ENST00000541562.1_Frame_Shift_Del_p.M400fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.M370fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.M230fs			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	370					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						ACCCCTTGATGGGGCAGCCTC	0.607													51	343	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84606435	84606435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr9:84606435delC	ENST00000344803.2	+	4	1097	c.1050delC	c.(1048-1050)cacfs	p.H350fs		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACCATTCACACCTTGCATCTT	0.473													15	112	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88512305	88512305	+	Frame_Shift_Del	DEL	T	T	-	rs77980773		TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:88512305delT	ENST00000552810.1	-	17	2009	c.1666delA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.I558fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTGACGAATTTTTTTTTTC	0.308													2	4	---	---	---	---					
ATP6V0A2	23545	broad.mit.edu	37	12	124218484	124218484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr12:124218484delA	ENST00000330342.3	+	7	908	c.660delA	c.(658-660)atafs	p.I220fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	220					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GGGAAGTCATAAAATGGTATG	0.353													14	95	---	---	---	---					
IGHV7-81	28378	broad.mit.edu	37	14	107283131	107283131	+	RNA	DEL	C	C	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr14:107283131delC	ENST00000390639.2	-	0	100																											TAAAGCCTCACTTGAGTGGCC	0.602													8	104	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64294872	64294872	+	RNA	DEL	C	C	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr16:64294872delC	ENST00000561657.1	-	0	584																											AGCAATCAAGCCATCGGAATT	0.378													11	81	---	---	---	---					
MPDU1	9526	broad.mit.edu	37	17	7487228	7487229	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:7487228_7487229delTC	ENST00000250124.6	+	1	264_265	c.48_49delTC	c.(46-51)attcttfs	p.L18fs	MPDU1_ENST00000423172.2_Frame_Shift_Del_p.L18fs|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_Frame_Shift_Del_p.L18fs|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_Frame_Shift_Del_p.L18fs	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	18					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCGTGCCGATTCTTTTACCTGA	0.530													12	226	---	---	---	---					
KRT14	3861	broad.mit.edu	37	17	39739923	39739924	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:39739923_39739924delCT	ENST00000167586.6	-	5	1018_1019	c.932_933delAG	c.(931-933)gagfs	p.E312fs		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	312	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGTTCAGCTCCTCTGTCTGCAA	0.579													7	156	---	---	---	---					
TBX21	30009	broad.mit.edu	37	17	45821624	45821624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chr17:45821624delG	ENST00000177694.1	+	4	1043	c.832delG	c.(832-834)ggafs	p.G278fs		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	278					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGTGAACGACGGAGAGCCAGA	0.547													9	58	---	---	---	---					
DHRSX	207063	broad.mit.edu	37	X	2209621	2209621	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrX:2209621delC	ENST00000334651.5	-	4	362	c.310delG	c.(310-312)gctfs	p.A104fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	104							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCATGGAAGCCAAGTCACAG	0.398													44	144	---	---	---	---					
PCDH11Y	83259	broad.mit.edu	37	Y	5605543	5605544	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-UY-A9PB-01A-11D-A38G-08	TCGA-UY-A9PB-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d8b4ebb-2b6c-4f7e-880d-9c775ed15273	eb6aac44-86fa-4588-bea7-fa0e3657ecf0	g.chrY:5605543_5605544delAC	ENST00000215473.6	+	6	3583_3584	c.3583_3584delAC	c.(3583-3585)acafs	p.T1195fs				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1195					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCTCCAGTGACACAGACCATC	0.584													36	34	---	---	---	---