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
TTN	7273	broad.mit.edu	37	2	179500746	179500746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179500746G>A	ENST00000589042.1	-	226	41776	c.41552C>T	c.(41551-41553)aCa>aTa	p.T13851I	TTN_ENST00000342992.6_Missense_Mutation_p.T11283I|TTN_ENST00000342175.6_Missense_Mutation_p.T4978I|TTN_ENST00000460472.2_Missense_Mutation_p.T4786I|TTN_ENST00000359218.5_Missense_Mutation_p.T4911I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12210I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12210							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)			CACAGTAACTGTGTATGTTCC	0.468000													16	163					0	0	0.520397	0	0
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607000													12	133					0	0	0.520397	0	0
COG7	91949	broad.mit.edu	37	16	23428348	23428348	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:23428348C>G	ENST00000307149.5	-	9	1417	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	411					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATTGGTGAATCTGACGCATCT	0.582000													7	109					0	0	0.307466	0	0
C6orf165	154313	broad.mit.edu	37	6	88127960	88127960	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:88127960C>T	ENST00000507897.1	+	7	749	c.666C>T	c.(664-666)acC>acT	p.T222T	C6ORF165_ENST00000369562.4_Silent_p.T222T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	222										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCCAGCCACCATGCAGCATA	0.493000													11	89					0	0	0.387290	0	0
UGGT1	56886	broad.mit.edu	37	2	128865573	128865573	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:128865573C>G	ENST00000375990.3	+	4	670	c.267C>G	c.(265-267)ctC>ctG	p.L89L	UGGT1_ENST00000259253.6_Silent_p.L113L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	113					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTCACCCCTCCAGCAGAATT	0.418000													26	192					0	0	0.681144	0	0
LIPI	149998	broad.mit.edu	37	21	15537706	15537706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr21:15537706G>C	ENST00000344577.2	-	6	827	c.802C>G	c.(802-804)Caa>Gaa	p.Q268E	LIPI_ENST00000536861.1_Missense_Mutation_p.Q247E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAATGAATTGAATTCCTTAA	0.303000													8	105					0	0	0.387290	0	0
PTPRN	5798	broad.mit.edu	37	2	220161532	220161532	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:220161532C>T	ENST00000295718.2	-	16	2489	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	PTPRN_ENST00000409251.3_Missense_Mutation_p.R721H|PTPRN_ENST00000423636.2_Missense_Mutation_p.R660H	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617000													3	46					0	0	0.150653	0	0
CCDC88A	55704	broad.mit.edu	37	2	55589533	55589533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:55589533C>G	ENST00000436346.1	-	7	1379	c.538G>C	c.(538-540)Gat>Cat	p.D180H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D180H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D180H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D180H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	180					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCGACATATCAGTCACTTCC	0.348000													5	54					0	0	0.184627	0	0
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42457994C>T	ENST00000318006.5	-	17	1863	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	VPS39_ENST00000348544.4_Silent_p.P578P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473000													14	140					0	0	0.435327	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63063358	63063358	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:63063358G>A	ENST00000371129.3	+	1	201	c.121G>A	c.(121-123)Gac>Aac	p.D41N	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	41					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TGCTATGTTAGACGATGTAAA	0.348000													16	95					0	0	0.557998	0	0
RBMS2	5939	broad.mit.edu	37	12	56975652	56975652	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:56975652T>C	ENST00000262031.5	+	8	863	c.768T>C	c.(766-768)gcT>gcC	p.A256A	RBMS2_ENST00000552247.2_Silent_p.A256A|RBMS2_ENST00000542360.1_Silent_p.A111A|RBMS2_ENST00000550726.1_Silent_p.A131A	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	256					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCACCACAGCTCTTCAGAATG	0.433000													51	264					0	0	0.870114	0	0
MBTPS1	8720	broad.mit.edu	37	16	84093017	84093017	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:84093017C>T	ENST00000343411.3	-	21	3216	c.2721G>A	c.(2719-2721)cgG>cgA	p.R907R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	907					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTTGGAGTACCGATGAAGAT	0.468000													3	52					0	0	0.184627	0	0
TUT1	64852	broad.mit.edu	37	11	62358968	62358968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:62358968C>T	ENST00000308436.7	-	1	141	c.104G>A	c.(103-105)aGg>aAg	p.R35K	TUT1_ENST00000476907.1_5'UTR|MIR3654_ENST00000496634.2_5'UTR	NM_022830.2	NP_073741.2	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	0					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCGACTCTCCTGTACCGACA	0.602000													11	29					0	0	0.654019	0	0
COL14A1	7373	broad.mit.edu	37	8	121228727	121228727	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121228727G>A	ENST00000297848.3	+	14	2005	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E484K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E579K|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	579	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.E579K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAATCAATGAGGTAAGTTC	0.383000													8	211					0	0	0.278610	0	0
CEP350	9857	broad.mit.edu	37	1	180064865	180064865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180064865C>G	ENST00000367607.3	+	35	9137	c.8719C>G	c.(8719-8721)Caa>Gaa	p.Q2907E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2907						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAGTAACCCAACAACCATG	0.383000													8	89					0	0	0.307466	0	0
COL23A1	91522	broad.mit.edu	37	5	177697340	177697340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:177697340G>A	ENST00000390654.3	-	6	823	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	COL23A1_ENST00000407622.1_Missense_Mutation_p.P120S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	156	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCACTTACGGGCTTGCCATCC	0.597000													6	39					0	0	0.278610	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059182	79059182	+	Missense_Mutation	SNP	T	T	C	rs143974743		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:79059182T>C	ENST00000388820.4	-	19	3281	c.3071A>G	c.(3070-3072)cAc>cGc	p.H1024R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1024					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H1024R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCAGGTGGTGCGGGATGAA	0.682000													3	32					0	0	0.115264	0	0
WNT6	7475	broad.mit.edu	37	2	219736445	219736445	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:219736445C>T	ENST00000233948.3	+	3	757	c.540C>T	c.(538-540)gaC>gaT	p.D180D	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	180					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCGGGGACGAGAAGTCGA	0.726000													3	23					0	0	0.115264	0	0
NFRKB	4798	broad.mit.edu	37	11	129758675	129758675	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:129758675C>A	ENST00000446488.3	-	3	254	c.151G>T	c.(151-153)Gat>Tat	p.D51Y	NFRKB_ENST00000524794.1_Missense_Mutation_p.D64Y|NFRKB_ENST00000524746.1_Missense_Mutation_p.D51Y|NFRKB_ENST00000304521.5_Missense_Mutation_p.D51Y|NFRKB_ENST00000526940.1_Missense_Mutation_p.D51Y	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	51					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGACAACATCAAAGAAGATC	0.373000													3	45					0.150653	0.153393	0.150653	1	0
TENM2	57451	broad.mit.edu	37	5	167674088	167674088	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:167674088C>T	ENST00000519204.1	+	26	5899	c.5781C>T	c.(5779-5781)gtC>gtT	p.V1927V	TENM2_ENST00000518659.1_Silent_p.V2048V|TENM2_ENST00000520394.1_Silent_p.V1809V|TENM2_ENST00000403607.2_Silent_p.V1872V|TENM2_ENST00000545108.1_Silent_p.V2047V					teneurin transmembrane protein 2																		CCACTGGTGTCTTGAAGATGG	0.537000													17	152					0	0	0.539581	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325563	150325563	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:150325563C>A	ENST00000328902.5	-	3	339	c.123G>T	c.(121-123)ctG>ctT	p.L41L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	41							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAGCCTCAGTCTCCTTG	0.517000													70	740					5.96624e-29	6.88886e-29	0.870114	1	0
ANKRD26	22852	broad.mit.edu	37	10	27323939	27323939	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:27323939C>T	ENST00000376087.4	-	24	3605	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R704Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1163Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1146						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGTTGTTGTCGAAGCAACAT	0.368000													29	311					0	0	0.760397	0	0
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000452041.1_Silent_p.I28I|TAF6_ENST00000437822.2_Silent_p.I65I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567000													31	173					0	0	0.750413	0	0
PARPBP	55010	broad.mit.edu	37	12	102572458	102572458	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:102572458C>G	ENST00000327680.2	+	9	1314	c.851C>G	c.(850-852)gCt>gGt	p.A284G	PARPBP_ENST00000541394.1_Missense_Mutation_p.A442G|PARPBP_ENST00000392911.2_Missense_Mutation_p.A284G|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.A365G	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	365					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						GAAGAAGCAGCTAATGCTCCT	0.378000													11	79					0	0	0.387290	0	0
LRRC7	57554	broad.mit.edu	37	1	70504158	70504158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:70504158C>T	ENST00000310961.5	+	22	2970	c.2552C>T	c.(2551-2553)aCc>aTc	p.T851I	LRRC7_ENST00000035383.5_Missense_Mutation_p.T846I|LRRC7_ENST00000415775.2_Missense_Mutation_p.T130I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	846						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGAATTGGACCAGAACCCCT	0.488000													13	150					0	0	0.411799	0	0
TTN	7273	broad.mit.edu	37	2	179497064	179497064	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179497064C>T	ENST00000589042.1	-	236	43781	c.43557G>A	c.(43555-43557)gaG>gaA	p.E14519E	TTN_ENST00000342992.6_Silent_p.E11951E|TTN_ENST00000342175.6_Silent_p.E5646E|TTN_ENST00000460472.2_Silent_p.E5454E|TTN_ENST00000359218.5_Silent_p.E5579E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.E12878E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12878	Fibronectin type-III 5.						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)			CATGAGATAACTCCACAGTAA	0.428000													3	16					0	0	0.115264	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810927	140810927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140810927G>A	ENST00000252085.3	+	1	743	c.601G>A	c.(601-603)Gac>Aac	p.D201N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCCTGGACCGCGAAGA	0.627000													46	179					0	0	0.870114	0	0
RBL1	5933	broad.mit.edu	37	20	35696492	35696492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:35696492C>T	ENST00000373664.3	-	3	454	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RBL1_ENST00000344359.3_Missense_Mutation_p.E130K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	130					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTAGACACCTCAAAATTTCTC	0.313000													8	69					0	0	0.278610	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	69					0	0	0.150653	0	0
RBM17	84991	broad.mit.edu	37	10	6139143	6139143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:6139143C>T	ENST00000446108.1	+	2	759	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q39*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	39					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGCTCTCACTCAGGCAAAGGT	0.493000													12	112					0	0	0.411799	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20190890	20190890	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:20190890C>T	ENST00000379565.3	-	15	1534	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A413T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A415T|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A414T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	443	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ATGTTTGTAGCTTTATGTATA	0.333000													11	33					0	0	0.361761	0	0
PLEC	5339	broad.mit.edu	37	8	144991144	144991144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144991144C>T	ENST00000322810.4	-	32	13425	c.13256G>A	c.(13255-13257)gGc>gAc	p.G4419D	PLEC_ENST00000357649.2_Missense_Mutation_p.G4286D|PLEC_ENST00000436759.2_Missense_Mutation_p.G4309D|PLEC_ENST00000527096.1_Missense_Mutation_p.G4305D|PLEC_ENST00000345136.3_Missense_Mutation_p.G4282D|PLEC_ENST00000354589.3_Missense_Mutation_p.G4282D|PLEC_ENST00000356346.3_Missense_Mutation_p.G4268D|PLEC_ENST00000354958.2_Missense_Mutation_p.G4260D|PLEC_ENST00000398774.2_Missense_Mutation_p.G4250D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4419	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCCAGGATGCCAGCCACGGG	0.672000													4	110					0	0	0.150653	0	0
UCP2	7351	broad.mit.edu	37	11	73689376	73689376	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:73689376C>A	ENST00000310473.3	-	3	890	c.48G>T	c.(46-48)aaG>aaT	p.K16N	UCP2_ENST00000536983.1_Missense_Mutation_p.K16N	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	16					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCCCAAGAAACTTCACAGTGG	0.547000													19	63					1.96292e-10	2.18754e-10	0.592651	1	0
ALPK2	115701	broad.mit.edu	37	18	56203584	56203584	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203584G>A	ENST00000361673.3	-	5	4048	c.3835C>T	c.(3835-3837)Cta>Tta	p.L1279L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1279							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTGCCTTTAGACTATCAGGT	0.502000													29	237					0	0	0.750413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717278	222717278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:222717278C>T	ENST00000343410.6	-	2	633	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602000													10	117					0	0	0.335167	0	0
ERLIN1	10613	broad.mit.edu	37	10	101914691	101914691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:101914691C>T	ENST00000421367.2	-	10	3458	c.751G>A	c.(751-753)Gca>Aca	p.A251T	ERLIN1_ENST00000407654.3_Missense_Mutation_p.A251T	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	249					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCCAGGAATGCAGCATCTAGC	0.453000													6	53					0	0	0.217242	0	0
ATP11C	286410	broad.mit.edu	37	X	138880468	138880468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:138880468T>C	ENST00000370557.1	-	10	1848	c.821A>G	c.(820-822)tAc>tGc	p.Y274C	ATP11C_ENST00000327569.3_Missense_Mutation_p.Y277C|ATP11C_ENST00000370543.1_Missense_Mutation_p.Y277C|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y277C|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y277C			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	277					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTCCCTTGGTAGTTCAAAGC	0.338000													27	116					0	0	0.693898	0	0
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Silent	SNP	G	G	A	rs145307270		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:5862865G>A	ENST00000324989.7	-	3	631	c.543C>T	c.(541-543)ccC>ccT	p.P181P	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.P67P|CRMP1_ENST00000512574.1_Silent_p.P65P	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552000													5	219					0	0	0.248553	0	0
NME8	51314	broad.mit.edu	37	7	37916515	37916515	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:37916515G>C	ENST00000199447.4	+	12	1272	c.900G>C	c.(898-900)atG>atC	p.M300I	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.M300I	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	300					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTAAGTTCATGGATGCTTTCT	0.353000													7	72					0	0	0.248553	0	0
TRPM5	29850	broad.mit.edu	37	11	2434717	2434717	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:2434717G>A	ENST00000452833.1	-	13	2006	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	TRPM5_ENST00000533060.1_Silent_p.L664L|TRPM5_ENST00000155858.6_Silent_p.L664L|TRPM5_ENST00000528453.1_Silent_p.L664L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	664						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGGTGATGAGGTTGGTAT	0.682000													5	17					0	0	0.184627	0	0
TAF6	6878	broad.mit.edu	37	7	99711299	99711299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711299C>T	ENST00000344095.4	-	4	862	c.337G>A	c.(337-339)Gat>Aat	p.D113N	TAF6_ENST00000472509.1_Missense_Mutation_p.D170N|TAF6_ENST00000418432.2_Missense_Mutation_p.D56N|TAF6_ENST00000453269.2_Missense_Mutation_p.D113N|TAF6_ENST00000452041.1_Missense_Mutation_p.D113N|TAF6_ENST00000437822.2_Missense_Mutation_p.D150N	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	113					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCTCAGATCAACCTCCTTC	0.607000													24	177					0	0	0.667858	0	0
NPAS3	64067	broad.mit.edu	37	14	34145431	34145431	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:34145431C>G	ENST00000346562.2	+	5	551	c.477C>G	c.(475-477)ggC>ggG	p.G159G	NPAS3_ENST00000547068.1_Silent_p.G87G|NPAS3_ENST00000551492.1_Silent_p.G196G|NPAS3_ENST00000548645.1_Silent_p.G161G|NPAS3_ENST00000357798.5_Silent_p.G178G|NPAS3_ENST00000341321.4_Silent_p.G191G|NPAS3_ENST00000356141.4_Silent_p.G191G|NPAS3_ENST00000551008.1_Silent_p.G89G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	191	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCTGACAGGCAGCAGTGTCT	0.537000													35	167					0	0	0.853193	0	0
ABCA10	10349	broad.mit.edu	37	17	67149444	67149444	+	Splice_Site	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:67149444A>T	ENST00000269081.4	-	35	5046		c.e35+1		ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACTCTCCTTACCACATTTGC	0.453000													15	161					0	0	0.500413	0	0
OR14I1	401994	broad.mit.edu	37	1	248845518	248845518	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:248845518G>T	ENST00000342623.3	-	1	111	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TAAATCAGCAGAAACAGCCCG	0.493000													4	66					0.248553	0.251927	0.248553	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530481	140530481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530481G>C	ENST00000231136.1	+	1	643	c.643G>C	c.(643-645)Gat>Cat	p.D215H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D79H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCGCGCTGGATGGCGGGTC	0.602000													6	92					0	0	0.248553	0	0
GLI1	2735	broad.mit.edu	37	12	57858619	57858619	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57858619C>T	ENST00000228682.2	+	4	448	c.357C>T	c.(355-357)ggC>ggT	p.G119G	GLI1_ENST00000546141.1_Silent_p.G78G|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	119					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCAGGAGGCTCCTACGGTC	0.587000													22	123					0	0	0.681144	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885439	180885439	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180885439C>A	ENST00000367588.4	+	2	255	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	67										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTGATGGCCCCCCAGCCTCCC	0.602000													8	68					0.000157383	0.000166292	0.278610	1	0
OR8H1	219469	broad.mit.edu	37	11	56058044	56058044	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:56058044C>A	ENST00000313022.2	-	1	522	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(3)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CGCAGAAATGCAGTCTGCTCA	0.433000													5	145					0.014758	0.0151642	0.184627	1	0
SCLT1	132320	broad.mit.edu	37	4	129864201	129864201	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:129864201C>G	ENST00000281142.5	-	17	2085	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	528						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTAAACTCTCAGTCTCTTTC	0.363000													13	240					0	0	0.479597	0	0
RGS3	5998	broad.mit.edu	37	9	116276859	116276859	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:116276859G>A	ENST00000374140.2	+	16	1808	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RGS3_ENST00000343817.5_Silent_p.P252P|RGS3_ENST00000350696.5_Silent_p.P533P|RGS3_ENST00000374136.1_Silent_p.P159P|RGS3_ENST00000317613.6_Silent_p.P421P|RGS3_ENST00000394646.3_Silent_p.P252P	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	533					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGAGGCCGCATGCCACGC	0.587000													4	129					0	0	0.184627	0	0
ALPK3	57538	broad.mit.edu	37	15	85384080	85384080	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:85384080G>T	ENST00000258888.5	+	5	2343	c.2176G>T	c.(2176-2178)Gtg>Ttg	p.V726L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	726					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTGCAGGTGCCGACGCC	0.637000													18	52					1.02788e-11	1.15701e-11	0.520397	1	0
NAGA	4668	broad.mit.edu	37	22	42456988	42456988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:42456988C>T	ENST00000396398.3	-	8	1573	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	NAGA_ENST00000402937.1_Missense_Mutation_p.M347I|NAGA_ENST00000403363.1_Missense_Mutation_p.M347I	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	347					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCGATAAGGCATATCGGTCC	0.567000													15	116					0	0	0.479597	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116702	42116702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42116702C>T	ENST00000457542.2	+	30	4520	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	MAPKBP1_ENST00000456763.2_Nonsense_Mutation_p.Q1418*|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.Q1251*|MAPKBP1_ENST00000514566.1_Nonsense_Mutation_p.Q1135*|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.Q1295*	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1418										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAGCCTGGAGCAGTGTGAGCA	0.652000													5	22					0	0	0.184627	0	0
NRG2	9542	broad.mit.edu	37	5	139422017	139422017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:139422017G>A	ENST00000541337.1	-	1	867	c.638C>T	c.(637-639)cCc>cTc	p.P213L	NRG2_ENST00000394770.1_Missense_Mutation_p.P213L|NRG2_ENST00000545385.1_Missense_Mutation_p.P213L|NRG2_ENST00000289409.4_Missense_Mutation_p.P213L|NRG2_ENST00000361474.1_Missense_Mutation_p.P213L|NRG2_ENST00000358522.3_Missense_Mutation_p.P213L|NRG2_ENST00000289422.7_Missense_Mutation_p.P213L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	213					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATCGAGGGGGGCAAAGGC	0.572000													3	8					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166868758	166868758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:166868758G>A	ENST00000423058.2	-	19	3757	c.3740C>T	c.(3739-3741)aCg>aTg	p.T1247M	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T1247M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1219M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1236M|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1247						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCTTAATCGTCTTTCGCTG	0.294000													12	42					0	0	0.435327	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543116	182543116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:182543116G>A	ENST00000295108.3	-	2	929	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	158					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCCTGAGCGCAGGATCTCC	0.562000													8	130					0	0	0.278610	0	0
TRRAP	8295	broad.mit.edu	37	7	98608706	98608706	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:98608706G>A	ENST00000359863.4	+	70	11137	c.10928G>A	c.(10927-10929)aGt>aAt	p.S3643N	TRRAP_ENST00000446306.3_Missense_Mutation_p.S3632N|TRRAP_ENST00000355540.3_Missense_Mutation_p.S3614N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3643	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTTCAGAGTAACATGGTG	0.527000													24	50					0	0	0.639603	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333970	28333970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:28333970C>T	ENST00000377255.3	+	7	1822	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.Q361*|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.Q509*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	509					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAAACCCTATCAGTGTAATGC	0.413000													7	78					0	0	0.248553	0	0
WDR62	284403	broad.mit.edu	37	19	36562559	36562559	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:36562559C>T	ENST00000401500.2	+	8	1019	c.984C>T	c.(982-984)ctC>ctT	p.L328L	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.L328L|WDR62_ENST00000388999.3_Silent_p.L328L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	328					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCACTACCTCGCCAACCTGC	0.622000													10	93					0	0	0.361761	0	0
ADORA1	134	broad.mit.edu	37	1	203134708	203134708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203134708G>T	ENST00000367236.4	+	3	1582	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.D221Y|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D221Y	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	221					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTCCTCCGGCGACCCGCAGAA	0.582000													17	157					2.37509e-13	2.68697e-13	0.592651	1	0
TAF6	6878	broad.mit.edu	37	7	99711569	99711569	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711569C>T	ENST00000344095.4	-	3	690	c.165G>A	c.(163-165)ttG>ttA	p.L55L	TAF6_ENST00000472509.1_Silent_p.L112L|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.L55L|TAF6_ENST00000452041.1_Silent_p.L55L|TAF6_ENST00000437822.2_Silent_p.L92L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	55					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCATGAACTTCAAGGCATCCT	0.557000													19	117					0	0	0.557998	0	0
KRI1	65095	broad.mit.edu	37	19	10665764	10665764	+	Splice_Site	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10665764C>G	ENST00000312962.6	-	18	1817	c.1799_splice	c.e18+1	p.E600_splice	KRI1_ENST00000361821.5_Splice_Site_p.E596_splice	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	600										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			actgcttactcttctCGGCAG	0.592000													7	83					0	0	0.248553	0	0
SKA3	221150	broad.mit.edu	37	13	21742409	21742409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:21742409C>T	ENST00000314759.5	-	4	585	c.461G>A	c.(460-462)cGt>cAt	p.R154H	SKA3_ENST00000400018.3_Missense_Mutation_p.R154H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	154					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTGTGGACTACGTGGAGACTT	0.433000													21	167					0	0	0.639603	0	0
ALPK2	115701	broad.mit.edu	37	18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	rs140868694	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203904G>A	ENST00000361673.3	-	5	3728	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1172							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGTGGGCCGTGGGCACCAA	0.577000													6	131					0	0	0.654019	0	0
SMG8	55181	broad.mit.edu	37	17	57290700	57290700	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:57290700G>A	ENST00000543872.2	+	4	2780	c.2516G>A	c.(2515-2517)cGa>cAa	p.R839Q	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.R839Q			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	839					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGAAGACGGCGAGATGACATA	0.463000													26	208					0	0	0.706142	0	0
PTPRT	11122	broad.mit.edu	37	20	41408885	41408885	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:41408885C>T	ENST00000373198.3	-	4	776	c.541G>A	c.(541-543)Gag>Aag	p.E181K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E181K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E181K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E181K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	181	MAM.				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)				ACCCGGACCTCGTCCACGGCG	0.527000													12	156					0	0	0.479597	0	0
TMEM8A	58986	broad.mit.edu	37	16	426741	426741	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:426741C>A	ENST00000431232.2	-	5	867	c.707G>T	c.(706-708)gGc>gTc	p.G236V	TMEM8A_ENST00000250930.3_Missense_Mutation_p.G43V	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	236					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CACGGGGCAGCCCAGGCTCCC	0.682000													13	29					3.27435e-08	3.59537e-08	0.457914	1	0
ZNF286A	57335	broad.mit.edu	37	17	15611559	15611559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:15611559C>T	ENST00000464847.2	+	4	885	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ZNF286A_ENST00000583566.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000580259.1_3'UTR|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000585194.1_Missense_Mutation_p.S111L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGCAGCTATTCAGGTGAGCCA	0.423000													11	57					0	0	0.411799	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596124	97596124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:97596124C>T	ENST00000182096.4	+	1	306	c.242C>T	c.(241-243)aCg>aTg	p.T81M		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTTCATGATACGTCCGCTGAC	0.423000													12	100					0	0	0.457914	0	0
C17orf97	400566	broad.mit.edu	37	17	263456	263456	+	Silent	SNP	T	T	C	rs71369086		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:263456T>C	ENST00000360127.6	+	2	838	c.822T>C	c.(820-822)ggT>ggC	p.G274G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	304	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGTTTCCACACTG	0.682000													4	97					0	0	0.184627	0	0
ENAM	10117	broad.mit.edu	37	4	71507743	71507743	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:71507743T>C	ENST00000396073.3	+	9	881	c.600T>C	c.(598-600)ttT>ttC	p.F200F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	200					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCTTACTTTGGATATTTTG	0.353000													70	300					0	0	0.870114	0	0
UBAP2L	9898	broad.mit.edu	37	1	154227358	154227358	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:154227358C>T	ENST00000428931.1	+	16	2068	c.1901C>T	c.(1900-1902)tCt>tTt	p.S634F	UBAP2L_ENST00000361546.2_Missense_Mutation_p.S634F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S634F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S645F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	634					binding of sperm to zona pellucida		protein binding	p.S634C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCACACAATCTGTTGAAGGT	0.398000													11	96					0	0	0.457914	0	0
CELSR1	9620	broad.mit.edu	37	22	46787152	46787152	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:46787152C>A	ENST00000262738.3	-	16	6180	c.6181G>T	c.(6181-6183)Gcc>Tcc	p.A2061S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2061					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATGCCGGCCTCAAATGCT	0.607000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	55					0.27861	0.28112	0.278610	1	0
THAP9	79725	broad.mit.edu	37	4	83839109	83839109	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:83839109G>A	ENST00000302236.5	+	5	1795	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	582							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTCAATGCTGAGAGCTTAAA	0.333000													5	90					0	0	0.184627	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:42895345C>T	ENST00000399770.2	+	1	62	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507000													5	181					0	0	0.217242	0	0
RPS5	6193	broad.mit.edu	37	19	58899511	58899511	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:58899511G>C	ENST00000596046.1	+	1	856	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RPS5_ENST00000196551.3_Missense_Mutation_p.E3Q|RPS5_ENST00000601521.1_Missense_Mutation_p.E3Q|RPS5_ENST00000598098.1_Missense_Mutation_p.E3Q|RPS5_ENST00000598495.1_Missense_Mutation_p.E3Q			P46782	RS5_HUMAN	ribosomal protein S5	3					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CAGGATGACCGAGTGGGAGAC	0.552000													5	35					0	0	0.217242	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	92					0	0	0.115264	0	0
GIF	2694	broad.mit.edu	37	11	59603454	59603454	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:59603454G>T	ENST00000541311.1	-	7	1059	c.825C>A	c.(823-825)agC>agA	p.S275R	GIF_ENST00000257248.2_Missense_Mutation_p.S300R			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	300					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCAGGGTTGCTGGGTAGAG	0.473000													23	245					7.07758e-08	7.73355e-08	0.681144	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028386	59028386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:59028386C>T	ENST00000594051.1	-	2	1135	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ZBTB45_ENST00000600990.1_Missense_Mutation_p.D219N|ZBTB45_ENST00000354590.3_Missense_Mutation_p.D219N			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCCTCGCCATCGGTCTCATCG	0.647000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	529					0	0	0.870114	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530097G>T	ENST00000231136.1	+	1	259	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517000													22	170					2.39556e-15	2.72389e-15	0.639603	1	0
KRI1	65095	broad.mit.edu	37	19	10664771	10664771	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10664771C>T	ENST00000312962.6	-	19	2005	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	KRI1_ENST00000361821.5_Silent_p.R658R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	662										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCCAGCAGCCGTGCCTTCT	0.647000													16	187					0	0	0.592651	0	0
ASIC5	51802	broad.mit.edu	37	4	156784677	156784677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:156784677C>T	ENST00000537611.2	-	2	316	c.270G>A	c.(268-270)tgG>tgA	p.W90*	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	90						integral to membrane|plasma membrane											TTGTGGTTGGCCATGTGAAGT	0.428000													4	102					0	0	0.184627	0	0
TMTC2	160335	broad.mit.edu	37	12	83359345	83359345	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:83359345A>G	ENST00000549919.1	+	7	3478	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	TMTC2_ENST00000321196.3_Missense_Mutation_p.Y564C|TMTC2_ENST00000548305.1_Missense_Mutation_p.Y564C			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	564						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCAGCTGCATATTTAAATACC	0.368000													14	108					0	0	0.539581	0	0
RPGR	6103	broad.mit.edu	37	X	38156556	38156556	+	Silent	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:38156556G>T	ENST00000378505.2	-	11	1571	c.1395C>A	c.(1393-1395)ctC>ctA	p.L465L	RPGR_ENST00000309513.3_Silent_p.L403L|RPGR_ENST00000342811.3_Silent_p.L465L|RPGR_ENST00000339363.3_Silent_p.L465L|RPGR_ENST00000338898.3_Silent_p.L465L|RPGR_ENST00000318842.7_Silent_p.L465L|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	465					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGGCTGCATGAGGTCCTGTT	0.418000													9	103					3.86212e-05	4.10007e-05	0.361761	1	0
CXorf21	80231	broad.mit.edu	37	X	30578442	30578442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:30578442C>G	ENST00000378962.3	-	3	353	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	11										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCCAGTACTCAAGTCCACTG	0.418000													13	95					0	0	0.457914	0	0
ECE1	1889	broad.mit.edu	37	1	21560052	21560052	+	Splice_Site	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:21560052G>A	ENST00000415912.2	-	14	1746	c.1622_splice	c.e14+1	p.Q541_splice	ECE1_ENST00000436918.2_Splice_Site_p.Q557_splice|ECE1_ENST00000374893.6_Splice_Site_p.Q557_splice|ECE1_ENST00000264205.6_Splice_Site_p.Q554_splice|ECE1_ENST00000357071.4_Splice_Site_p.Q545_splice	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	557					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)		GGAACTCACTGATCTCTGTTG	0.577000													10	55					0	0	0.335167	0	0
CD209	30835	broad.mit.edu	37	19	7809920	7809920	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:7809920G>A	ENST00000315599.7	-	5	829	c.807C>T	c.(805-807)ttC>ttT	p.F269F	CD209_ENST00000593660.1_Silent_p.F199F|CD209_ENST00000601256.1_Silent_p.F245F|CD209_ENST00000301357.8_Silent_p.F133F|CD209_ENST00000602261.1_Silent_p.F177F|CD209_ENST00000315591.8_Silent_p.F245F|CD209_ENST00000354397.6_Silent_p.F269F|CD209_ENST00000204801.8_Silent_p.F225F|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Silent_p.F108F|CD209_ENST00000601951.1_Silent_p.F245F|CD209_ENST00000593821.1_Silent_p.F133F	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	269	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTAGACATGAAGTAACAGT	0.562000													20	124					0	0	0.592651	0	0
ACTR3C	653857	broad.mit.edu	37	7	149981865	149981865	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:149981865C>T	ENST00000539352.1	-	6	792	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ACTR3C_ENST00000252071.4_Missense_Mutation_p.D181N	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	181					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										CGCCGCACATCGATGGGGCAG	0.398000													6	45					0	0	0.248553	0	0
KIF21A	55605	broad.mit.edu	37	12	39696848	39696848	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:39696848G>A	ENST00000395670.3	-	35	5072	c.4653C>T	c.(4651-4653)acC>acT	p.T1551T	KIF21A_ENST00000361961.3_Silent_p.T1537T|KIF21A_ENST00000361418.5_Silent_p.T1550T|KIF21A_ENST00000541463.2_Silent_p.T1497T|KIF21A_ENST00000544797.2_Silent_p.T1513T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1550					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCCCTTGAATGGTTAGTGCTT	0.403000													5	172					0	0	0.217242	0	0
IGF1R	3480	broad.mit.edu	37	15	99500474	99500474	+	Missense_Mutation	SNP	G	G	A	rs45475702		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:99500474G>A	ENST00000268035.6	+	21	4518	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V1302I|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1303					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATGGAGAGCGTCCCCCTGGA	0.667000													11	54					0	0	0.435327	0	0
ARID4A	5926	broad.mit.edu	37	14	58831004	58831004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:58831004G>C	ENST00000355431.3	+	20	2570	c.2197G>C	c.(2197-2199)Gat>Cat	p.D733H	ARID4A_ENST00000431317.2_Missense_Mutation_p.D733H|ARID4A_ENST00000395168.3_Missense_Mutation_p.D733H|ARID4A_ENST00000348476.3_Missense_Mutation_p.D733H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	733					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATAAGCTAGATGAAGAAAA	0.289000													15	140					0	0	0.479597	0	0
ESYT3	83850	broad.mit.edu	37	3	138178826	138178826	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:138178826G>A	ENST00000389567.4	+	6	874	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ESYT3_ENST00000289135.4_Missense_Mutation_p.V230M	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	230						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCCCCTCCTAGTGGACAAGCC	0.632000													24	122					0	0	0.667858	0	0
AGBL5	60509	broad.mit.edu	37	2	27279594	27279594	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:27279594G>C	ENST00000360131.4	+	8	1628	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	AGBL5_ENST00000323064.8_Missense_Mutation_p.R490T	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	490					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGACCGTAGAGATGGCCAG	0.463000													28	229					0	0	0.717897	0	0
PCDH7	5099	broad.mit.edu	37	4	30724332	30724332	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:30724332G>A	ENST00000361762.2	+	1	2296	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGACGGGGTGGCCAACGTGGC	0.617000													3	58					0	0	0.115264	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632000													16	80					0	0	0.520397	0	0
C7	730	broad.mit.edu	37	5	40972634	40972634	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:40972634T>G	ENST00000313164.9	+	15	2371	c.2012T>G	c.(2011-2013)tTt>tGt	p.F671C	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	671	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTCAGCATTTCTCTGTGGC	0.488000													21	205					0	0	0.639603	0	0
SMG8	55181	broad.mit.edu	37	17	57289009	57289009	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:57289009C>G	ENST00000543872.2	+	2	1861	c.1597C>G	c.(1597-1599)Cga>Gga	p.R533G	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R533G|SMG8_ENST00000300917.5_Missense_Mutation_p.R533G|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	533					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.R533*(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAGGCTCTTCGAGTGTACAG	0.458000													9	100					0	0	0.335167	0	0
FMOD	2331	broad.mit.edu	37	1	203311480	203311480	+	Silent	SNP	G	G	A	rs141336017	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203311480G>A	ENST00000354955.4	-	3	1585	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	374					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGATCTCGATGAGGCTGG	0.637000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	83					0	0	0.435327	0	0
MFSD9	84804	broad.mit.edu	37	2	103353179	103353179	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:103353179C>G	ENST00000258436.5	-	1	134	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCTCCGCCTCGGTTCCTGTC	0.672000													6	58					0	0	0.217242	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200364	5200364	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:5200364A>G	ENST00000274181.7	+	9	1571	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y478C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	478	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGCCAGTATCTACACAAA	0.517000													12	111					0	0	0.457914	0	0
NUTM2A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:88988216C>T	ENST00000381689.4	+	2	910	c.579C>T	c.(577-579)tgC>tgT	p.C193C	NUTM2A_ENST00000381707.2_Silent_p.C193C|NUTM2A-AS1_ENST00000451940.2_RNA					NUT family member 2A																		AGGATGGCTGCGGCCCGAGTG	0.657000													17	171					0	0	0.592651	0	0
SSH2	85464	broad.mit.edu	37	17	27958830	27958830	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27958830C>G	ENST00000269033.3	-	15	3452	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1128Q	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1101					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTGTCTTCAGGGCTACTC	0.547000													12	116					0	0	0.457914	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30953272	30953272	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:30953272C>T	ENST00000402321.1	-	2	425	c.108G>A	c.(106-108)ccG>ccA	p.P36P	GAL3ST1_ENST00000401975.1_Silent_p.P36P|GAL3ST1_ENST00000443111.2_Silent_p.P36P|GAL3ST1_ENST00000406361.1_Silent_p.P36P|GAL3ST1_ENST00000402369.1_Silent_p.P36P|GAL3ST1_ENST00000338911.5_Silent_p.P36P|GAL3ST1_ENST00000406955.1_Silent_p.P36P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	36					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGGCATGCAGCGGGGGCACGG	0.647000													9	116					0	0	0.335167	0	0
TNPO2	30000	broad.mit.edu	37	19	12817445	12817445	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:12817445T>A	ENST00000425528.1	-	14	1792	c.1435A>T	c.(1435-1437)Atg>Ttg	p.M479L	TNPO2_ENST00000450764.2_Missense_Mutation_p.M479L|TNPO2_ENST00000356861.5_Missense_Mutation_p.M479L|TNPO2_ENST00000588216.1_Missense_Mutation_p.M479L|TNPO2_ENST00000441499.1_Missense_Mutation_p.M479L|TNPO2_ENST00000592287.1_Missense_Mutation_p.M479L			O14787	TNPO2_HUMAN	transportin 2	479					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTGTCATCAGGGGCTTG	0.637000													14	54					0	0	0.457914	0	0
MED1	5469	broad.mit.edu	37	17	37563769	37563769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:37563769C>T	ENST00000300651.6	-	17	4928	c.4705G>A	c.(4705-4707)Gaa>Aaa	p.E1569K	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1569					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATCATCTTCCTCCCCAATC	0.413000										HNSCC(31;0.082)			28	96					0	0	0.729181	0	0
NCF2	4688	broad.mit.edu	37	1	183532571	183532571	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:183532571C>T	ENST00000413720.1	-	11	1315	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	NCF2_ENST00000367535.3_Silent_p.L392L|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.L311L|NCF2_ENST00000367536.1_Silent_p.L392L	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GAGCTCACCTCAGCTTAGTGT	0.557000													20	339					0	0	0.654019	0	0
KIFC3	3801	broad.mit.edu	37	16	57829031	57829031	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:57829031G>C	ENST00000379655.4	-	3	452	c.195C>G	c.(193-195)gtC>gtG	p.V65V	KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000541240.1_Silent_p.V87V|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000445690.2_Silent_p.V65V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	65					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CGTCACCGCAGACTGGGGTAT	0.647000													6	53					0	0	0.217242	0	0
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567000													7	460					0	0	0.278610	0	0
TET2	54790	broad.mit.edu	37	4	106157315	106157315	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:106157315C>A	ENST00000513237.1	+	3	3076	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H	TET2_ENST00000413648.2_Missense_Mutation_p.P739H|TET2_ENST00000305737.2_Missense_Mutation_p.P739H|TET2_ENST00000545826.1_Missense_Mutation_p.P739H|TET2_ENST00000380013.4_Missense_Mutation_p.P739H|TET2_ENST00000394764.1_Missense_Mutation_p.P739H|TET2_ENST00000540549.1_Missense_Mutation_p.P739H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	739	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCACATCTCCCTCAAAACCAG	0.418000			"""Mis N, F"""		MDS								4	105					0.150653	0.153393	0.150653	1	0
RYR3	6263	broad.mit.edu	37	15	33936544	33936544	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:33936544C>G	ENST00000389232.4	+	28	3659	c.3589C>G	c.(3589-3591)Cag>Gag	p.Q1197E	RYR3_ENST00000415757.3_Missense_Mutation_p.Q1197E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1197	4 X approximate repeats.|B30.2/SPRY 2.				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)		GGGTCTATCTCAGATCGGCCG	0.527000													9	32					0	0	0.335167	0	0
CSPG5	10675	broad.mit.edu	37	3	47619197	47619197	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:47619197C>T	ENST00000383738.2	-	2	2417	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.G107S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	107					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCCAGGCCTGGGCTGTCA	0.716000													10	76					0	0	0.387290	0	0
TEX13A	56157	broad.mit.edu	37	X	104464803	104464803	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:104464803C>A	ENST00000372578.3	-	2	390	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TEX13A_ENST00000372575.1_Silent_p.L93L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Silent_p.L93L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	93						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CGAAGCCGTGCAGCCACCGCA	0.632000													9	41					0.000274275	0.000287092	0.307466	1	0
FGFR1OP	11116	broad.mit.edu	37	6	167427050	167427050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:167427050G>A	ENST00000366847.3	+	7	805	c.574G>A	c.(574-576)Gac>Aac	p.D192N	FGFR1OP_ENST00000349556.4_Intron	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	192					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GAAGGCTGGTGACAAGGTAAC	0.488000			T	FGFR1	"""MPD, NHL"""								6	97					0	0	0.278610	0	0
DNAH17	8632	broad.mit.edu	37	17	76570998	76570998	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:76570998C>T	ENST00000389840.5	-	2	266	c.142G>A	c.(142-144)Gac>Aac	p.D48N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D48N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCTGGACGTCGGGCTTTTCA	0.562000													14	67					0	0	0.435327	0	0
TAF6	6878	broad.mit.edu	37	7	99711776	99711776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711776C>T	ENST00000344095.4	-	2	582	c.57G>A	c.(55-57)atG>atA	p.M19I	TAF6_ENST00000472509.1_Missense_Mutation_p.M76I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Missense_Mutation_p.M19I|TAF6_ENST00000452041.1_Missense_Mutation_p.M19I|TAF6_ENST00000437822.2_Missense_Mutation_p.M56I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	19					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCACCTTCATGGACTCCG	0.572000													29	181					0	0	0.740014	0	0
JAG1	182	broad.mit.edu	37	20	10625009	10625009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:10625009G>A	ENST00000254958.5	-	19	2883	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	JAG1_ENST00000423891.2_Missense_Mutation_p.P631S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	790	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTACCAGGGATGAGGGCTG	0.463000									Alagille Syndrome				4	41					0	0	0.184627	0	0
FECH	2235	broad.mit.edu	37	18	55218580	55218580	+	Silent	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:55218580A>G	ENST00000262093.5	-	10	1255	c.1104T>C	c.(1102-1104)gcT>gcC	p.A368A	FECH_ENST00000382873.3_Silent_p.A374A	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	368					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TAAGAGACTCAGCTCTTCTGA	0.343000													6	75					0	0	0.217242	0	0
TAF6	6878	broad.mit.edu	37	7	99711834	99711834	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711834C>T	ENST00000472509.1	-	1	347	c.170G>A	c.(169-171)aGa>aAa	p.R57K	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.R37K			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCATTCTGGAGTCCCT	0.572000													18	147					0	0	0.557998	0	0
RASSF9	9182	broad.mit.edu	37	12	86198832	86198832	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:86198832T>G	ENST00000361228.3	-	2	1324	c.956A>C	c.(955-957)aAg>aCg	p.K319T		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	319					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAATCACACTTAACACTCTC	0.368000													39	363					0	0	0.827153	0	0
BAIAP2	10458	broad.mit.edu	37	17	79058642	79058642	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:79058642C>T	ENST00000321300.6	+	4	321	c.228C>T	c.(226-228)ctC>ctT	p.L76L	BAIAP2_ENST00000428708.2_Silent_p.L76L|BAIAP2_ENST00000321280.7_Silent_p.L76L|BAIAP2_ENST00000575245.1_Silent_p.L109L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.L76L|BAIAP2_ENST00000392411.3_5'UTR|BAIAP2_ENST00000435091.3_Silent_p.L76L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	76	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622000													35	298					0	0	0.769981	0	0
SWAP70	23075	broad.mit.edu	37	11	9750966	9750966	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:9750966C>T	ENST00000318950.6	+	6	969	c.866C>T	c.(865-867)tCa>tTa	p.S289L	SWAP70_ENST00000447399.2_Missense_Mutation_p.S231L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	289	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATCAGTGCTTCAGATAAGAAG	0.318000													7	75					0	0	0.248553	0	0
HYDIN	54768	broad.mit.edu	37	16	70841774	70841774	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:70841774C>T	ENST00000393567.2	-	86	15225	c.15075G>A	c.(15073-15075)aaG>aaA	p.K5025K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5025										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACCTTGGGGCTTGGGAGGCA	0.542000													7	115					0	0	0.248553	0	0
STIL	6491	broad.mit.edu	37	1	47737808	47737808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:47737808C>T	ENST00000360380.3	-	14	2686	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	STIL_ENST00000337817.5_Missense_Mutation_p.E775K|STIL_ENST00000243182.6_Missense_Mutation_p.E775K|STIL_ENST00000396221.2_Missense_Mutation_p.E775K|STIL_ENST00000371877.3_Missense_Mutation_p.E775K			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	775	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACTGTGCTTCCACAGAAACC	0.433000													4	79					0	0	0.150653	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812206	140812206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140812206G>A	ENST00000252085.3	+	1	2022	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.687000													10	112					0	0	0.435327	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925545	182925545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:182925545C>T	ENST00000328913.3	-	23	2860	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D855N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	855	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)			TTATAACGATCCTTGTGAATT	0.423000													20	84					0	0	0.592651	0	0
SLFN13	146857	broad.mit.edu	37	17	33770858	33770858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:33770858G>A	ENST00000285013.6	-	4	1423	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	SLFN13_ENST00000360502.2_Missense_Mutation_p.S65F|SLFN13_ENST00000533791.1_Missense_Mutation_p.S383F|SLFN13_ENST00000534689.1_Missense_Mutation_p.S65F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S383F|SLFN13_ENST00000542635.1_Missense_Mutation_p.S383F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	383						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)		ACCTTTCTTAGAATACACTGG	0.398000													10	96					0	0	0.335167	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748274	41748274	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:41748274G>A	ENST00000226382.2	-	3	854	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	165	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTTGGCCGCGGCCGCTGCGG	0.657000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	35					0	0	0.411799	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794470	18794470	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:18794470G>C	ENST00000377428.2	+	1	101	c.11G>C	c.(10-12)aGa>aCa	p.R4T	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ATGTGGAAGAGAAGTGACCAT	0.512000													12	98					0	0	0.411799	0	0
EXTL2	2135	broad.mit.edu	37	1	101339860	101339860	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:101339860C>A	ENST00000370114.3	-	5	2067	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	EXTL2_ENST00000535414.1_Missense_Mutation_p.V198L|EXTL2_ENST00000370113.3_Missense_Mutation_p.V211L	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	211					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAATCAGCACCATAGAGTAC	0.413000													10	94					2.17888e-05	2.33526e-05	0.335167	1	0
RELN	5649	broad.mit.edu	37	7	103191542	103191542	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:103191542C>T	ENST00000428762.1	-	41	6433	c.6274G>A	c.(6274-6276)Gtg>Atg	p.V2092M	RELN_ENST00000343529.5_Missense_Mutation_p.V2092M|RELN_ENST00000424685.2_Missense_Mutation_p.V2092M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2092					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAAGTGCACGACCTCCCTC	0.552000													9	54					0	0	0.307466	0	0
GDA	9615	broad.mit.edu	37	9	74828816	74828816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74828816C>T	ENST00000358399.3	+	5	580	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	GDA_ENST00000376989.3_Missense_Mutation_p.R138W|GDA_ENST00000545168.1_Missense_Mutation_p.R89W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000238018.4_Missense_Mutation_p.R163W	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGGACAGCGGGCATTTGT	0.348000													14	55					0	0	0.479597	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144916	56144916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:56144916C>T	ENST00000394555.2	-	4	836	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	EFEMP1_ENST00000424836.2_Missense_Mutation_p.R76Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R134Q|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R134Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	134					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGTTATTTCGGCCAGTCTG	0.587000													17	109					0	0	0.520397	0	0
MAPK15	225689	broad.mit.edu	37	8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144803252G>C	ENST00000338033.4	+	10	1119	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652000													4	32					0	0	0.150653	0	0
LZTR1	8216	broad.mit.edu	37	22	21347982	21347982	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:21347982A>T	ENST00000215739.8	+	12	1651	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E412V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	431					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGCTGCACGAGGACTACGGG	0.637000													11	43					0	0	0.435327	0	0
ATP10B	23120	broad.mit.edu	37	5	160097667	160097667	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:160097667G>T	ENST00000327245.5	-	7	1324	c.478C>A	c.(478-480)Cag>Aag	p.Q160K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	160					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q160K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAGGTCTGCTCTTTTCTT	0.458000													24	164					9.80776e-20	1.12663e-19	0.706142	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725342	68725342	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:68725342G>A	ENST00000283916.6	-	2	161	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	21					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGACGACAATGAAACATACTA	0.383000													5	97					0	0	0.184627	0	0
CDADC1	81602	broad.mit.edu	37	13	49833572	49833572	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:49833572C>A	ENST00000251108.6	+	4	456	c.343C>A	c.(343-345)Ctt>Att	p.L115I	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Missense_Mutation_p.L115I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	115							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GCAGATTGCTCTTATTAAACA	0.368000													47	107					6.21074e-16	7.09799e-16	0.859065	1	0
SUN5	140732	broad.mit.edu	37	20	31572920	31572920	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:31572920C>T	ENST00000356173.3	-	12	1061	c.969G>A	c.(967-969)caG>caA	p.Q323Q	SUN5_ENST00000375523.3_Silent_p.Q298Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	323	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTGGGAACATCTGGATGATGT	0.577000													17	153					0	0	0.500413	0	0
SORBS2	8470	broad.mit.edu	37	4	186544853	186544853	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186544853G>C	ENST00000431808.1	-	14	2281	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S673C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S573C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S477C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	573						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGGGCGTTAGACTGGCAGCC	0.592000													17	82					0	0	0.557998	0	0
RAD54L	8438	broad.mit.edu	37	1	46736347	46736347	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:46736347C>G	ENST00000371975.4	+	10	1733	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	RAD54L_ENST00000442598.1_Missense_Mutation_p.F353L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	353					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCCATGAATTCAAGAAGCATT	0.498000								Direct reversal of damage;Homologous recombination					10	149					0	0	0.335167	0	0
ATP1A3	478	broad.mit.edu	37	19	42471887	42471887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:42471887C>T	ENST00000545399.1	-	21	3040	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E920K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E961K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E950K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	950					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGTCTCCTCAAACAGCCCG	0.667000													6	47					0	0	0.278610	0	0
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Silent	SNP	C	C	T	rs145206628		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99707583C>T	ENST00000344095.4	-	12	1797	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	TAF6_ENST00000472509.1_Silent_p.Q481Q|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Silent_p.Q348Q|TAF6_ENST00000453269.2_Silent_p.Q424Q|TAF6_ENST00000452041.1_Silent_p.Q424Q|TAF6_ENST00000437822.2_Silent_p.Q461Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	424					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q424H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572000													19	166					0	0	0.592651	0	0
MSMO1	6307	broad.mit.edu	37	4	166254491	166254491	+	Splice_Site	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:166254491G>T	ENST00000261507.6	+	2	142		c.e2-1		MSMO1_ENST00000504317.1_Splice_Site|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1						cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	CATTTCTACAGAATTATAAGG	0.294000													6	104					3.59834e-05	3.83823e-05	0.217242	1	0
HK1	3098	broad.mit.edu	37	10	71142518	71142518	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:71142518C>T	ENST00000448642.2	+	15	2035	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	HK1_ENST00000404387.2_Missense_Mutation_p.S518F|HK1_ENST00000360289.2_Missense_Mutation_p.S502F|HK1_ENST00000359426.6_Missense_Mutation_p.S514F|HK1_ENST00000298649.3_Missense_Mutation_p.S513F|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	514	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGCTGCCCTCCTTCGTCCGG	0.632000													3	28					0	0	0.115264	0	0
OR5J2	282775	broad.mit.edu	37	11	55944190	55944190	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:55944190G>A	ENST00000312298.1	+	1	97	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTGTTCCTGGTGATTTACGC	0.403000													64	284					0	0	0.870114	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	98					0	0	0.115264	0	0
SHMT2	6472	broad.mit.edu	37	12	57626045	57626045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57626045C>G	ENST00000328923.3	+	5	1016	c.564C>G	c.(562-564)atC>atG	p.I188M	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.I167M|SHMT2_ENST00000557487.1_Missense_Mutation_p.I188M|SHMT2_ENST00000414700.3_Missense_Mutation_p.I167M|SHMT2_ENST00000393827.4_Missense_Mutation_p.S83C|SHMT2_ENST00000553474.1_Missense_Mutation_p.I167M	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	188						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGTCCATCTTCTTCGAGT	0.592000													38	152					0	0	0.870114	0	0
FREM1	158326	broad.mit.edu	37	9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:14824903C>T	ENST00000380881.4	-	12	2787	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FREM1_ENST00000380880.3_Missense_Mutation_p.E657K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408000													10	65					0	0	0.335167	0	0
BICC1	80114	broad.mit.edu	37	10	60558291	60558291	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:60558291C>T	ENST00000373886.3	+	11	1503	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	BICC1_ENST00000263103.1_Missense_Mutation_p.P126L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	500					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTATGGGCACCCCCACTTGCT	0.403000													14	183					0	0	0.500413	0	0
CREBBP	1387	broad.mit.edu	37	16	3820844	3820844	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:3820844G>C	ENST00000262367.5	-	14	3416	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	CREBBP_ENST00000382070.3_Silent_p.L831L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	869					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGTGTGCTGGAGAGATGGCA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						15	85					0	0	0.500413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25514837	25514837	+	RNA	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:25514837C>T	ENST00000554726.1	+	0	4				SNHG14_ENST00000452731.1_RNA																							GAAAATGTGGCATCCAGTCCA	0.448000													3	8					0	0	0.115264	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453879	91453879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91453879G>A	ENST00000360468.3	+	10	1744	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	MAN2A2_ENST00000559717.1_Missense_Mutation_p.A576T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A84T	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	576					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTGGCACGGCCAAGGAGGC	0.587000													4	131					0	0	0.184627	0	0
MDN1	23195	broad.mit.edu	37	6	90387317	90387317	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:90387317C>T	ENST00000369393.3	-	76	12626	c.12511G>A	c.(12511-12513)Gtc>Atc	p.V4171I	MDN1_ENST00000428876.1_Missense_Mutation_p.V4171I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4171					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)		GTGCTGCTGACGATGGACAAT	0.433000													19	113					0	0	0.557998	0	0
LAMB4	22798	broad.mit.edu	37	7	107710183	107710183	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:107710183T>A	ENST00000388781.3	-	18	2355	c.2272A>T	c.(2272-2274)Atg>Ttg	p.M758L	LAMB4_ENST00000388780.3_Missense_Mutation_p.M758L|LAMB4_ENST00000205386.4_Missense_Mutation_p.M758L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	758	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGGCAGACATGCTGATGATC	0.478000													36	148					0	0	0.819951	0	0
WDHD1	11169	broad.mit.edu	37	14	55457985	55457985	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:55457985C>T	ENST00000359167.4	-	1	115	c.26G>A	c.(25-27)gGc>gAc	p.G9D	WDHD1_ENST00000421192.1_Silent_p.R306R|WDHD1_ENST00000360586.3_Silent_p.R429R|WDHD1_ENST00000420358.2_Silent_p.R306R			O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	0						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGGCTTTTGCCGGGGAGTTG	0.448000													4	108					0	0	0.184627	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732357	2732357	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:2732357A>T	ENST00000320876.6	+	25	3481	c.3143A>T	c.(3142-3144)aAg>aTg	p.K1048M	SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1048M|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1048					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAGGACAAAAGGCAATTCAG	0.368000													18	121					0	0	0.520397	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7579591C>T	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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)		GCAAGGGGGACTGTAGATGGG	0.592000		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)			21	224					0	0	0.592651	0	0
GPR84	53831	broad.mit.edu	37	12	54757125	54757125	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:54757125C>G	ENST00000551809.1	-	1	1146	c.511G>C	c.(511-513)Gac>Cac	p.D171H	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D171H|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	171						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGATGCGGTCAAAGCTGCAG	0.572000													3	80					0	0	0.115264	0	0
TSR1	55720	broad.mit.edu	37	17	2237843	2237843	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:2237843T>C	ENST00000301364.4	-	5	1983	c.904A>G	c.(904-906)Ata>Gta	p.I302V		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	302					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCATCTATCTGTTTCATC	0.443000													84	290					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> 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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562000		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	58					0	0	0.479597	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812448	16812448	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:16812448C>T	ENST00000355661.3	-	21	2959	c.2949G>A	c.(2947-2949)tcG>tcA	p.S983S	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000531066.1_Silent_p.S983S|PLEKHA7_ENST00000448080.2_Silent_p.S984S|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	983					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CACTGACATACGACCGCAGCT	0.642000													3	28					0	0	0.150653	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190422	57190422	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:57190422G>A	ENST00000504228.1	+	8	3636	c.3531G>A	c.(3529-3531)acG>acA	p.T1177T	KIAA1211_ENST00000541073.1_Silent_p.T1170T|KIAA1211_ENST00000264229.6_Silent_p.T1177T			Q6ZU35	K1211_HUMAN	KIAA1211	1177										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCTTCCTACGTCTGTGACAG	0.488000													24	63					0	0	0.667858	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	73					0	0	0.150653	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838082	92838082	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:92838082G>T	ENST00000394468.2	-	4	900	c.823C>A	c.(823-825)Cat>Aat	p.H275N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H263N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H298N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H263N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	275	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGGGGGGATGAGAATCAGCA	0.433000													18	412					1.99824e-07	2.17284e-07	0.520397	1	0
SEC23IP	11196	broad.mit.edu	37	10	121658241	121658241	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:121658241C>G	ENST00000369075.3	+	2	538	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	156	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAATTCTTATCTGCCTTCTCA	0.478000													21	208					0	0	0.575678	0	0
CECR2	27443	broad.mit.edu	37	22	18020172	18020172	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:18020172G>C	ENST00000262608.8	+	13	1504	c.1504G>C	c.(1504-1506)Gat>Cat	p.D502H	CECR2_ENST00000400573.4_Missense_Mutation_p.D501H|CECR2_ENST00000400585.2_Missense_Mutation_p.D360H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	543	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCTGGAGAAGATGGAGACAC	0.463000													7	14					0	0	0.248553	0	0
RGPD3	653489	broad.mit.edu	37	2	107042470	107042470	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:107042470C>A	ENST00000409886.3	-	19	2767	c.2680G>T	c.(2680-2682)Gct>Tct	p.A894S	RGPD3_ENST00000304514.7_Missense_Mutation_p.A894S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	894					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTAACATTAGCTGCTGGTCTG	0.308000													5	163					0.014758	0.0151642	0.184627	1	0
DENND2D	79961	broad.mit.edu	37	1	111738609	111738609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:111738609G>A	ENST00000357640.4	-	6	803	c.574C>T	c.(574-576)Cga>Tga	p.R192*	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Nonsense_Mutation_p.R189*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	192	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCTGCCTCTCGGAGGCCCTGC	0.567000													11	113					0	0	0.361761	0	0
COL14A1	7373	broad.mit.edu	37	8	121243789	121243789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121243789G>A	ENST00000297848.3	+	19	2551	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	COL14A1_ENST00000247781.3_Missense_Mutation_p.D666N|COL14A1_ENST00000309791.4_Missense_Mutation_p.D761N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	761	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGACAGCGATGTGCAGCA	0.453000													10	121					0	0	0.361761	0	0
TANGO2	128989	broad.mit.edu	37	22	20049075	20049075	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:20049075G>A	ENST00000327374.4	+	7	652	c.474G>A	c.(472-474)gcG>gcA	p.A158A	TANGO2_ENST00000456048.1_Silent_p.A163A|TANGO2_ENST00000401886.1_Silent_p.A96A|TANGO2_ENST00000420290.2_Silent_p.A60A|TANGO2_ENST00000432883.1_Silent_p.A96A|TANGO2_ENST00000401833.1_Silent_p.A199A|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000447208.2_Silent_p.A158A|TANGO2_ENST00000398042.2_Silent_p.A96A	NM_152906.4	NP_690870.3			transport and golgi organization 2 homolog (Drosophila)																		TGAGCAACGCGCTGCTGGAGA	0.627000													3	17					0	0	0.115264	0	0
TP53I13	90313	broad.mit.edu	37	17	27896346	27896346	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27896346G>A	ENST00000301057.7	+	3	267	c.152G>A	c.(151-153)aGa>aAa	p.R51K	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	51						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GTGTCACCAAGAGTGACCTAC	0.632000													4	38					0	0	0.184627	0	0
VEPH1	79674	broad.mit.edu	37	3	157004456	157004456	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:157004456T>A	ENST00000362010.2	-	12	2325	c.2018A>T	c.(2017-2019)gAc>gTc	p.D673V	VEPH1_ENST00000392833.2_Missense_Mutation_p.D628V|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D628V|VEPH1_ENST00000392832.2_Missense_Mutation_p.D673V|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	673						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)			CTGTACCTGGTCCAGATCCTG	0.493000													10	125					0	0	0.361761	0	0
MACF1	23499	broad.mit.edu	37	1	39945527	39945527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:39945527C>G	ENST00000564288.1	+	98	22793	c.22016C>G	c.(22015-22017)tCc>tGc	p.S7339C	MACF1_ENST00000372915.3_Missense_Mutation_p.S7209C|MACF1_ENST00000567887.1_Missense_Mutation_p.S7376C|MACF1_ENST00000317713.7_Missense_Mutation_p.S5251C|MACF1_ENST00000545844.1_Missense_Mutation_p.S5251C|MACF1_ENST00000289893.4_Missense_Mutation_p.S5759C|MACF1_ENST00000539005.1_Missense_Mutation_p.S5121C|MACF1_ENST00000361689.2_Missense_Mutation_p.S5251C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7209	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGGAGCATCCCAGGGAATG	0.488000													4	93					0	0	0.150653	0	0
FLRT2	23768	broad.mit.edu	37	14	86089701	86089701	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:86089701G>A	ENST00000330753.4	+	2	2610	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D615N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	615					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAAATAACGATCAACTCCT	0.473000													89	306					0	0	0.870114	0	0
SORBS2	8470	broad.mit.edu	37	4	186545169	186545169	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186545169C>T	ENST00000431808.1	-	14	1965	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E568K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E468K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E372K			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	468						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATCACCTCGGAGTTCATC	0.587000													14	201					0	0	0.457914	0	0
S100PBP	64766	broad.mit.edu	37	1	33292423	33292423	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:33292423C>A	ENST00000373475.5	+	3	977	c.723C>A	c.(721-723)atC>atA	p.I241I	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Silent_p.I241I|S100PBP_ENST00000373476.1_Silent_p.I241I	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	241						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTCTCGGATCTCAGACCATT	0.428000													16	74					2.23348e-06	2.41691e-06	0.500413	1	0
TMEM2	23670	broad.mit.edu	37	9	74365204	74365204	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74365204G>A	ENST00000377044.4	-	2	625	c.86C>T	c.(85-87)cCa>cTa	p.P29L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P29L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	29						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTTCCCTGGAACATAGCC	0.517000													15	88					0	0	0.500413	0	0
MALAT1	378938	broad.mit.edu	37	11	65273274	65273274	+	RNA	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:65273274C>G	ENST00000534336.1	+	0	8042					NR_002819.2																						CTAAAACCAACTTAAACCAGT	0.373000													43	103					0	0	0.847076	0	0
DVL1	1855	broad.mit.edu	37	1	1277124	1277124	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:1277124G>A	ENST00000378888.5	-	5	812	c.528C>T	c.(526-528)gaC>gaT	p.D176D	DVL1_ENST00000378891.5_Silent_p.D176D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	176					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGACGCGCTGTCTGGGGGCA	0.677000													9	39					0	0	0.307466	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906692	13906692	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:13906692A>G	ENST00000279593.3	-	3	778	c.569T>C	c.(568-570)aTt>aCt	p.I190T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	190					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTATTCTCAATGGTGCTGCG	0.463000													39	125					0	0	0.819951	0	0
BLM	641	broad.mit.edu	37	15	91347415	91347415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91347415G>C	ENST00000355112.3	+	19	3695	c.3577G>C	c.(3577-3579)Gaa>Caa	p.E1193Q	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1193					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGAAACAGAAAATTCCAG	0.373000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	85					0	0	0.248553	0	0
PCDH18	54510	broad.mit.edu	37	4	138452188	138452188	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:138452188G>C	ENST00000344876.4	-	1	1441	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P132R|PCDH18_ENST00000412923.2_Missense_Mutation_p.P352R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	352	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTAATTTCAGGTTTATTGTC	0.358000													19	90					0	0	0.557998	0	0
SBF1	6305	broad.mit.edu	37	22	50898432	50898432	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:50898432G>C	ENST00000380817.2	-	26	3623	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	SBF1_ENST00000390679.3_Missense_Mutation_p.S1147C|SBF1_ENST00000348911.6_Missense_Mutation_p.S1148C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1147	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGGCTCAGACTTGGCCCG	0.662000													15	105					0	0	0.479597	0	0
CTSG	1511	broad.mit.edu	37	14	25043576	25043576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:25043576C>T	ENST00000216336.2	-	4	505	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	157	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGGAGTGTATCTGTTCCCCTC	0.637000													20	139					0	0	0.624587	0	0
SSTR2	6752	broad.mit.edu	37	17	71166496	71166496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:71166496C>A	ENST00000357585.2	+	2	1407	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	346					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GTAAGCAGGACAAATCCCGGC	0.537000													37	99					6.84511e-11	7.66653e-11	0.779181	1	0
AGMO	392636	broad.mit.edu	37	7	15427042	15427042	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:15427042C>T	ENST00000342526.3	-	9	1115	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	316					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.E316*(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGGAATTTCTTCACTGAGA	0.438000													17	256					0	0	0.575678	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332774	22332774	+	RNA	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:22332774C>A	ENST00000558896.1	+	0	581																											TGGCCTATGACAGGTATGTTG	0.488000													17	150					9.16793e-09	1.01163e-08	0.520397	1	0
PDE4B	5142	broad.mit.edu	37	1	66827468	66827468	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:66827468C>A	ENST00000423207.2	+	8	1452	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PDE4B_ENST00000480109.2_Missense_Mutation_p.L105M|PDE4B_ENST00000329654.4_Missense_Mutation_p.L338M|PDE4B_ENST00000371045.5_Missense_Mutation_p.L166M|PDE4B_ENST00000371049.3_Missense_Mutation_p.L338M	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	338					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGAAGATCACCTGGCCAAGGT	0.408000													4	72					0.00909568	0.00943256	0.150653	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3673302	3673302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:3673302C>T	ENST00000344754.4	-	15	3895	c.3896G>A	c.(3895-3897)cGt>cAt	p.R1299H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1299H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1299	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCAGCCAACGACCGTTGTG	0.657000													12	55					0	0	0.457914	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26124629G>C	ENST00000602637.1	+	1	199	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57Q			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662000													10	46					0	0	0.411799	0	0
AGRN	375790	broad.mit.edu	37	1	985677	985677	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:985677G>C	ENST00000379370.2	+	28	4994	c.4944G>C	c.(4942-4944)ctG>ctC	p.L1648L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1648	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCTGGAGCTGAGAGGCCTGC	0.687000													18	147					0	0	0.520397	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
RNASEH1-AS1	100506054	broad.mit.edu	37	2	3608128	3608131	+	RNA	DEL	TTCT	TTCT	-	rs77904732		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:3608128_3608131delTTCT	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						ccttccttccttcttctttccttc	0.397													4	9	---	---	---	---					
TFCP2L1	29842	broad.mit.edu	37	2	121989435	121989436	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:121989435_121989436insC	ENST00000263707.5	-	13	1404_1405	c.1307_1308insG	c.(1306-1308)gccfs	p.A436fs		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	436					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGCCCGTGGGGCCCTGCCGGTA	0.634													24	75	---	---	---	---					
DOK7	285489	broad.mit.edu	37	4	3494670	3494671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:3494670_3494671insA	ENST00000340083.5	+	7	1022_1023	c.957_958insA	c.(955-960)ccagccfs	p.A320fs	DOK7_ENST00000389653.2_Frame_Shift_Ins_p.A320fs|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	320	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACCCCCCAAGCCGCTGCG	0.688													5	5	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560450	147560451	+	In_Frame_Ins	INS	-	-	TGG			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:147560450_147560451insTGG	ENST00000281321.3	+	1	406_407	c.158_159insTGG	c.(157-159)ggg>gTGGgg	p.52_53insV	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	52					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCGAGCAACGCTggtggtggcg	0.762													6	7	---	---	---	---					
CTD-2023M8.1	0	broad.mit.edu	37	5	18730675	18730676	+	RNA	DEL	AC	AC	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:18730675_18730676delAC	ENST00000512978.1	-	0	176																											AGAAAGATGTacacacacacac	0.426													3	3	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													5	7	---	---	---	---					
SRPK2	6733	broad.mit.edu	37	7	104782508	104782509	+	Frame_Shift_Ins	INS	-	-	A	rs56112661		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:104782508_104782509insA	ENST00000357311.3	-	10	1627_1628	c.1456_1457insT	c.(1456-1458)ccafs	p.P486fs	SRPK2_ENST00000489828.1_Frame_Shift_Ins_p.P486fs|SRPK2_ENST00000393651.3_Frame_Shift_Ins_p.P497fs	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	486	Protein kinase.		S -> F (in dbSNP:rs56112661).		angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCTGTCATGGGATGGACTGCTC	0.520													29	131	---	---	---	---					
RP11-1082L8.3	0	broad.mit.edu	37	8	125850042	125850043	+	RNA	INS	-	-	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:125850042_125850043insT	ENST00000533496.1	-	0	293																											tccttccttccttccttccttc	0.386													3	5	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187645	116187646	+	In_Frame_Ins	INS	-	-	GCA			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:116187645_116187646insGCA	ENST00000288462.4	+	10	1333_1334	c.887_888insGCA	c.(886-888)cca>cGCAca	p.296_296P>RT	C9orf43_ENST00000374165.1_In_Frame_Ins_p.296_296P>RT	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcagc	0.550													9	85	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95134520	95134521	+	Splice_Site	INS	-	-	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:95134520_95134521insT	ENST00000371501.4	-	23	2422_2423	c.2301_splice	c.e23+1	p.A767_splice	MYOF_ENST00000359263.4_Splice_Site_p.A767_splice|MYOF_ENST00000371502.4_Splice_Site_p.A767_splice|MYOF_ENST00000358334.5_Splice_Site_p.A754_splice			Q9NZM1	MYOF_HUMAN	myoferlin	767					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGTCCTACCTCTTCAGTCAG	0.455													11	139	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													9	68	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47356642	47356644	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:47356642_47356644delAGG	ENST00000545968.1	-	27	2908_2910	c.2854_2856delCCT	c.(2854-2856)del	p.P952del	MYBPC3_ENST00000399249.2_In_Frame_Del_p.P952del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.P951del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	951	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGGGGCTCCAGGCCCTGCCATA	0.640													14	29	---	---	---	---					
SP1	6667	broad.mit.edu	37	12	53776257	53776258	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:53776257_53776258delAT	ENST00000426431.2	+	3	565_566	c.505_506delAT	c.(505-507)cfs	p.I169fs	SP1_ENST00000327443.4_Frame_Shift_Del_p.I176fs	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	176	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTATCAAGTAATCCCACAGTTC	0.515													20	228	---	---	---	---					
SNORA70	26778	broad.mit.edu	37	12	76082936	76082937	+	RNA	INS	-	-	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:76082936_76082937insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							TGTCTCCAAGGCCCTTTAGAGC	0.495													8	80	---	---	---	---					
RP11-1082A3.1	0	broad.mit.edu	37	14	98965147	98965150	+	RNA	DEL	AGGA	AGGA	-	rs75300751		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:98965147_98965150delAGGA	ENST00000554515.1	+	0	107																											AGATgaaaggaggaaggaaggaag	0.466													3	4	---	---	---	---					
RP11-982M15.7	0	broad.mit.edu	37	14	105121584	105121585	+	RNA	INS	-	-	GAT			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:105121584_105121585insGAT	ENST00000553433.1	-	0	93																											agggagggaagggaaggaagga	0.579													2	4	---	---	---	---					
RP11-982M15.7	0	broad.mit.edu	37	14	105121600	105121601	+	RNA	INS	-	-	GGAT	rs71421878		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:105121600_105121601insGGAT	ENST00000553433.1	-	0	93																											gaaggatggaaggaaggaagga	0.574													3	5	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830765	830766	+	In_Frame_Ins	INS	-	-	CAG			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:830765_830766insCAG	ENST00000293892.3	-	3	234_235	c.235_236insCTG	c.(235-237)cac>CTGcac	p.78_79insL	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													7	244	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:40272817_40272818insC	ENST00000225916.5	-	2	422_423	c.369_370insG	c.(367-372)tgaaaafs	p.*123fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	123					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.K124E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584													41	88	---	---	---	---					
AKT2	208	broad.mit.edu	37	19	40741253	40741254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:40741253_40741254insA	ENST00000392038.2	-	12	1477_1478	c.1179_1180insT	c.(1177-1182)ctgtggfs	p.W394fs	AKT2_ENST00000311278.6_Frame_Shift_Ins_p.W351fs|AKT2_ENST00000579047.1_Frame_Shift_Ins_p.W332fs|AKT2_ENST00000424901.1_Frame_Shift_Ins_p.W394fs	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	394	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGCCCCCCACCAAGCCTGTGCA	0.629			A		"""ovarian, pancreatic """								8	107	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	537	---	---	---	---					
