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
COQ10A	93058	broad.mit.edu	37	12	56663287	56663287	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:56663287T>C	ENST00000308197.5	+	4	779	c.518T>C	c.(517-519)aTt>aCt	p.I173T	COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	173						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTAGAGACTATTTGGCGATTC	0.438000													22	143					0	0	0.000295444	0	0
KCNH7	90134	broad.mit.edu	37	2	163228467	163228467	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:163228467G>T	ENST00000332142.5	-	16	3562	c.3463C>A	c.(3463-3465)Cac>Aac	p.H1155N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCCGCAGGTGAAGCTCTAAA	0.428000													8	47					1.12685e-05	6.39257e-05	0.000274275	1	0
GSS	2937	broad.mit.edu	37	20	33524591	33524591	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:33524591G>A	ENST00000216951.2	-	8	840	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GSS_ENST00000541098.1_Silent_p.L120L|GSS_ENST00000451957.2_Silent_p.L137L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	248					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCTTGGTCCAGAGACCCCTTT	0.473000													43	226					0	0	0.000781405	0	0
FGFR4	2264	broad.mit.edu	37	5	176519733	176519733	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:176519733A>G	ENST00000292408.4	+	8	1250	c.1005A>G	c.(1003-1005)gcA>gcG	p.A335A	FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A|FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000292410.3_Silent_p.A335A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	335	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTGCCTCGCAGGCAATTCCA	0.637000										TSP Lung(9;0.080)			23	31					0	0	0.000720815	0	0
PZP	5858	broad.mit.edu	37	12	9353588	9353588	+	Silent	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9353588G>C	ENST00000261336.2	-	6	598	c.570C>G	c.(568-570)tcC>tcG	p.S190S	PZP_ENST00000381997.2_Silent_p.S59S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGAGGGGAAAGGACAACTGAT	0.498000													27	130					0	0	0.00106085	0	0
SYNE2	23224	broad.mit.edu	37	14	64468762	64468762	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:64468762A>T	ENST00000358025.3	+	29	3979	c.3749A>T	c.(3748-3750)cAt>cTt	p.H1250L	SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGGATTTCATCTCATTGAT	0.418000													33	81					0	0	0.00178596	0	0
CT47B1	643311	broad.mit.edu	37	X	120008849	120008849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:120008849T>A	ENST00000371311.3	-	1	930	c.676A>T	c.(676-678)Aaa>Taa	p.K226*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	226										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tctgGGGGTTTCTCATCTGCG	0.706000													6	136					0	0	8.12818e-05	0	0
LPPR4	9890	broad.mit.edu	37	1	99772515	99772515	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:99772515T>C	ENST00000370185.3	+	7	2738	c.2241T>C	c.(2239-2241)acT>acC	p.T747T	LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		747							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCGAAAACACTAGAAATATCT	0.473000													23	55					0	0	0.000375601	0	0
PLCB4	5332	broad.mit.edu	37	20	9364994	9364994	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:9364994G>A	ENST00000378501.2	+	11	1015	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G334S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	334	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTATCTCACTGGCAGACAGTT	0.463000													35	71					0	0	0.000692331	0	0
NBAS	51594	broad.mit.edu	37	2	15415923	15415923	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:15415923C>T	ENST00000281513.5	-	44	5434	c.5409G>A	c.(5407-5409)ctG>ctA	p.L1803L	NBAS_ENST00000441750.1_Silent_p.L1683L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1803										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCATCTGTCAGCTTTTTGT	0.363000													6	93					0	0	0.00116845	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862909	10862909	+	RNA	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr21:10862909T>G	ENST00000559480.1	+	0	205																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGGATGGGATTGGTGTGCCC	0.542000													11	239					0	0	0.000219431	0	0
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:90097155G>T	ENST00000369415.4	-	2	579	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	101					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428000													98	190					5.01286e-43	3.16196e-42	0.000781405	1	0
ICAM2	3384	broad.mit.edu	37	17	62081229	62081229	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:62081229G>T	ENST00000412356.1	-	5	778	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	142	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGCTGTCCAGGGGCTCCACG	0.607000													7	45					0.000157383	0.000881737	0.000157383	1	0
LRP1B	53353	broad.mit.edu	37	2	141299370	141299370	+	Silent	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:141299370A>T	ENST00000389484.3	-	44	8336	c.7365T>A	c.(7363-7365)gcT>gcA	p.A2455A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2455					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGCAACAGCTATGATTC	0.363000										TSP Lung(27;0.18)			9	137					0	0	0.000442599	0	0
ALKBH8	91801	broad.mit.edu	37	11	107431547	107431547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:107431547C>T	ENST00000428149.2	-	2	224	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T|ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	25					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATGCTTGGCTTTAATCTGT	0.348000													13	29					0	0	0.00185496	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984689	51984689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:51984689T>C	ENST00000396477.4	+	3	464	c.443T>C	c.(442-444)cTg>cCg	p.L148P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	209						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCAGCTCCCTGGTGGAGAAC	0.507000													27	23					0	0	0.00106085	0	0
XIRP2	129446	broad.mit.edu	37	2	168115072	168115072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:168115072G>T	ENST00000409728.1	+	11	2204	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	XIRP2_ENST00000409605.1_Missense_Mutation_p.E450D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E672D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E672D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E705D|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAAGGAGAAAAATGAAA	0.348000													5	24					1.23904e-05	6.98509e-05	0.000602214	1	0
SACS	26278	broad.mit.edu	37	13	23910945	23910945	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:23910945T>A	ENST00000382298.3	-	10	7658	c.7070A>T	c.(7069-7071)gAa>gTa	p.E2357V	SACS_ENST00000402364.1_Missense_Mutation_p.E1607V|SACS_ENST00000382292.3_Missense_Mutation_p.E2357V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2357					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAAACCTTTTCTGAGTCAAC	0.333000													25	50					0	0	0.000720815	0	0
C3AR1	719	broad.mit.edu	37	12	8211391	8211391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:8211391C>T	ENST00000307637.4	-	2	1594	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	464					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGGGTGGAACGTGTGAGCTC	0.473000													34	91					0	0	0.00058488	0	0
LRRC28	123355	broad.mit.edu	37	15	99901641	99901641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:99901641G>A	ENST00000301981.3	+	8	1036	c.796G>A	c.(796-798)Gag>Aag	p.E266K	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	266										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATAGGGACGGAGCATGATCA	0.522000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	63					0	0	0.000781405	0	0
ASMT	438	broad.mit.edu	37	X	1752052	1752052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:1752052G>C	ENST00000381241.3	+	7	855	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ASMT_ENST00000381229.4_Missense_Mutation_p.G191A|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	191					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGGGCTGGAGCTCTGGCT	0.537000													39	172					0	0	0.00148497	0	0
ZNF479	90827	broad.mit.edu	37	7	57188238	57188238	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:57188238C>G	ENST00000331162.4	-	5	1154	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R295I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.473000													6	70					0	0	0.000274275	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834842	27834842	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:27834842G>C	ENST00000331442.3	-	1	517	c.466C>G	c.(466-468)Ccg>Gcg	p.P156A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCTTCTTCGGAGTCTTCTTC	0.602000													5	231					0	0	0.00116845	0	0
CACNA1B	774	broad.mit.edu	37	9	140911625	140911625	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:140911625A>T	ENST00000277550.3	+	3	175	c.175A>T	c.(175-177)Agc>Tgc	p.S59C	CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371372.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	766					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTATCTCGCAGCTCATCTGT	0.473000													13	29					0	0	0.00136819	0	0
SPIDR	23514	broad.mit.edu	37	8	48614380	48614380	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:48614380A>G	ENST00000297423.4	+	13	2255	c.1871A>G	c.(1870-1872)aAg>aGg	p.K624R	SPIDR_ENST00000517693.1_Missense_Mutation_p.K99R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.K564R|SPIDR_ENST00000541342.1_Missense_Mutation_p.K554R	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		CCCATTTATAAGCTTTACCAG	0.428000													91	170					0	0	0.000781405	0	0
NDN	4692	broad.mit.edu	37	15	23931584	23931584	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23931584A>G	ENST00000331837.4	-	1	866	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	261	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGCCCCAAAAGAACTCGTAT	0.572000									Prader-Willi syndrome				5	56					0	0	8.12818e-05	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921489	130921489	+	Silent	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:130921489T>G	ENST00000261655.4	-	10	2116	c.1953A>C	c.(1951-1953)tcA>tcC	p.S651S	RIMBP2_ENST00000535703.1_Silent_p.S559S|RIMBP2_ENST00000536002.1_Silent_p.S559S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	651	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCGGCTGGGTGAGGGCGACC	0.726000													6	18					0	0	0.000274275	0	0
OLFM4	10562	broad.mit.edu	37	13	53608558	53608558	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:53608558T>A	ENST00000219022.2	+	2	358	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	94					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGACACCACCTTTCCCGTGGA	0.443000													10	84					0	0	0.000673444	0	0
BEND5	79656	broad.mit.edu	37	1	49202034	49202034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:49202034C>T	ENST00000371833.3	-	5	1071	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	329	BEN.									large_intestine(5)|lung(2)|skin(1)	8						ATCATAACTGCCAAGTTCTTC	0.483000													30	144					0	0	0.000491102	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649492	20649492	+	RNA	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:20649492C>G	ENST00000428453.1	-	0	2706																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGTCGTCCTCTGTGTCCGAA	0.562000													38	137					0	0	0.000781405	0	0
FAM47B	170062	broad.mit.edu	37	X	34961338	34961338	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:34961338C>T	ENST00000329357.5	+	1	426	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	130										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGCATCCCTTGGCCATGT	0.557000													40	22					0	0	0.00148497	0	0
COL4A5	1287	broad.mit.edu	37	X	107924156	107924156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:107924156G>T	ENST00000328300.6	+	46	4301	c.4057G>T	c.(4057-4059)Gag>Tag	p.E1353*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1347*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1347	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCTGGCCCTGAGGGGGAACC	0.448000									Alport syndrome with Diffuse Leiomyomatosis				51	25					1.86277e-20	1.15877e-19	0.000781405	1	0
NPC1L1	29881	broad.mit.edu	37	7	44556434	44556434	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:44556434G>A	ENST00000289547.4	-	17	3523	c.3468C>T	c.(3466-3468)ctC>ctT	p.L1156L	NPC1L1_ENST00000381160.3_Silent_p.L1129L|NPC1L1_ENST00000546276.1_Silent_p.L1083L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1156					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCCAGCAGGAGGCAGGAGA	0.592000													14	42					0	0	0.000308642	0	0
PRB4	5545	broad.mit.edu	37	12	11461798	11461798	+	Missense_Mutation	SNP	C	C	T	rs77336955		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:11461798C>T	ENST00000279575.1	-	3	152	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRB4_ENST00000445719.2_Missense_Mutation_p.R40H|PRB4_ENST00000535904.1_Missense_Mutation_p.R40H	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	40	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.R40P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCCTTGTGGGCGTCGTCCTTC	0.552000										HNSCC(22;0.051)			33	444					0	0	0.000953801	0	0
POM121	9883	broad.mit.edu	37	7	72413634	72413634	+	Silent	SNP	G	G	A	rs139238552	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:72413634G>A	ENST00000395270.1	+	14	3348	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000434423.2_Silent_p.T1034T|POM121_ENST00000358357.3_Silent_p.T769T|POM121_ENST00000446813.1_Silent_p.T769T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1034	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652000													18	154					0	0	0.000295444	0	0
EEF1D	1936	broad.mit.edu	37	8	144671365	144671365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:144671365C>T	ENST00000532741.1	-	1	1265	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G296E|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G296E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGCCTCCCCATCGGCCCG	0.716000													4	18					0	0	0.00024832	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741393	156741393	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:156741393G>A	ENST00000347377.6	+	12	1583	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000377576.3_Silent_p.E384E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000541131.1_Silent_p.E309E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000521420.1_Silent_p.E358E	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	384					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCAGACGAGGAGTATCGCG	0.567000													22	35					0	0	0.00047179	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205025	26205025	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:26205025C>A	ENST00000360441.4	+	1	168	c.153C>A	c.(151-153)atC>atA	p.I51I		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGTCTCATCTACGAGGAGA	0.562000													38	68					6.99958e-10	4.1537e-09	0.00148497	1	0
RIMS2	9699	broad.mit.edu	37	8	104987601	104987601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:104987601C>G	ENST00000507740.1	+	13	2406	c.2170C>G	c.(2170-2172)Ctt>Gtt	p.L724V	RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V|RIMS2_ENST00000436393.2_Missense_Mutation_p.L710V|RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	994	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCGAGATCTTCAAAGCTC	0.358000										HNSCC(12;0.0054)			8	29					0	0	0.000157383	0	0
APBA1	320	broad.mit.edu	37	9	72131553	72131553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:72131553C>T	ENST00000265381.4	-	2	796	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	192					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCTGGAGGCCGCCGTAGTCG	0.687000													5	26					0	0	0.000602214	0	0
IFT43	112752	broad.mit.edu	37	14	76549919	76549919	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:76549919G>C	ENST00000314067.6	+	9	660	c.626G>C	c.(625-627)tGa>tCa	p.*209S	IFT43_ENST00000238628.6_Nonstop_Mutation_p.*214S	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	0					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGCACACCTGAGCCCGTCAC	0.512000													6	57					0	0	0.00116845	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811511	5811511	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:5811511A>G	ENST00000381095.3	-	6	2425	c.1798T>C	c.(1798-1800)Ttg>Ctg	p.L600L	NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000538097.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	600					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTCAAGTTGTGCAAA	0.483000													49	38					0	0	0.000781405	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473131	22473131	+	RNA	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:22473131G>T	ENST00000557788.2	-	0	139																											ACTGCTGATGGAGCCACCAGA	0.612000													29	153					3.73988e-18	2.31053e-17	0.00106085	1	0
CHST4	10164	broad.mit.edu	37	16	71570812	71570812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:71570812G>A	ENST00000338482.5	+	3	575	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	78					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCCTGGCACGTGTGGATGAC	0.577000													30	62					0	0	0.000339439	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455394	84455394	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:84455394A>T	ENST00000377084.2	-	1	1134	c.249T>A	c.(247-249)aaT>aaA	p.N83K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	83						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTAACCGCATTATAAAAGT	0.463000													31	65					0	0	0.000409698	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	85					0	0	0.00024832	0	0
PRRC2B	84726	broad.mit.edu	37	9	134343088	134343088	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:134343088A>G	ENST00000357304.4	+	12	1914	c.1859A>G	c.(1858-1860)tAt>tGt	p.Y620C	PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	620	Gln-rich.						protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGTTCAAGTATCAGAAGTCC	0.557000													20	45					0	0	0.00047179	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	57					0	0	0.00024832	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393000													78	116					0	0	0.000781405	0	0
PHC1	1911	broad.mit.edu	37	12	9092018	9092018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9092018A>T	ENST00000433083.2	+	14	2988	c.2843A>T	c.(2842-2844)aAg>aTg	p.K948M	PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000543824.1_Missense_Mutation_p.K993M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	993	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTGCCCTCAAGATCTGCGCC	0.488000													13	14					0	0	0.000219431	0	0
OR2T6	254879	broad.mit.edu	37	1	248551197	248551197	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTCATCGCCTGCACTGCTC	0.532000													30	75					3.65163e-15	2.22552e-14	0.00106085	1	0
TMTC3	160418	broad.mit.edu	37	12	88589416	88589416	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:88589416A>G	ENST00000266712.6	+	14	2955	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	913						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CGTATTTTAAATGGTGAATAA	0.333000													12	50					0	0	0.000978159	0	0
ZNF250	58500	broad.mit.edu	37	8	146107136	146107136	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107136C>G	ENST00000292579.7	-	6	1563	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552000													7	41					0	0	0.000157383	0	0
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637000													5	161					0	0	0.000602214	0	0
COL22A1	169044	broad.mit.edu	37	8	139601580	139601580	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:139601580G>A	ENST00000303045.6	-	65	5243	c.4797C>T	c.(4795-4797)ccC>ccT	p.P1599P	COL22A1_ENST00000435777.1_Silent_p.P1579P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1599	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGGGACCGGGAGGTCCTG	0.622000										HNSCC(7;0.00092)			7	36					0	0	0.000442599	0	0
ROS1	6098	broad.mit.edu	37	6	117724426	117724426	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	26					0	0	0.000978159	0	0
PTPN21	11099	broad.mit.edu	37	14	88945598	88945598	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:88945598C>G	ENST00000556564.1	-	13	2461	c.2177G>C	c.(2176-2178)cGg>cCg	p.R726P	PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	726						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAGGCGCCCGGGCCCCGCT	0.701000													3	20					0	0	6.4e-05	0	0
CMYA5	202333	broad.mit.edu	37	5	79027402	79027402	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:79027402T>C	ENST00000446378.2	+	2	2845	c.2814T>C	c.(2812-2814)gaT>gaC	p.D938D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	938						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAGAAGATCAAGAAGACA	0.413000													48	39					0	0	0.000781405	0	0
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483000													50	98					0	0	0.000781405	0	0
KDM6B	23135	broad.mit.edu	37	17	7752094	7752094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7752094G>A	ENST00000254846.5	+	11	2877	c.2488G>A	c.(2488-2490)Ggg>Agg	p.G830R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G830R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	830	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACCCGGCCTGGGCCCTTGCC	0.682000													9	131					0	0	0.000442599	0	0
BPNT1	10380	broad.mit.edu	37	1	220253139	220253139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:220253139G>C	ENST00000469520.2	-	3	499	c.50C>G	c.(49-51)tCt>tGt	p.S17C	BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C|BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTGAGCAATAGAATATGCGGA	0.413000													8	56					0	0	0.000274275	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889583	23889583	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23889583A>G	ENST00000532292.1	-	1	1592	c.1498T>C	c.(1498-1500)Tcc>Ccc	p.S500P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCTAAATAGGATGCCACCAAA	0.423000													5	40					0	0	0.000602214	0	0
LEMD3	23592	broad.mit.edu	37	12	65564805	65564805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:65564805C>G	ENST00000308330.2	+	1	1455	c.1429C>G	c.(1429-1431)Ctc>Gtc	p.L477V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	477					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTCGATGTTTCTCTTAACTGC	0.478000													23	38					0	0	0.00188189	0	0
NDNF	79625	broad.mit.edu	37	4	121958183	121958183	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:121958183A>T	ENST00000379692.4	-	4	1469	c.943T>A	c.(943-945)Ttt>Att	p.F315I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	315	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTGACCACAAATACATCAAAG	0.453000													15	71					0	0	0.00074312	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283873	33283873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:33283873G>A	ENST00000431845.2	-	2	972	c.821C>T	c.(820-822)gCa>gTa	p.A274V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAACCACTGCCCCCCTCCC	0.607000													12	45					0	0	0.000978159	0	0
ZRANB3	84083	broad.mit.edu	37	2	136111147	136111147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:136111147C>G	ENST00000401392.1	-	4	444	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E78Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	78	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCCATTCCTCTTTATAGAAG	0.343000													3	44					0	0	6.4e-05	0	0
WDR64	128025	broad.mit.edu	37	1	241958516	241958516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:241958516G>C	ENST00000366552.2	+	25	3182	c.2975G>C	c.(2974-2976)aGa>aCa	p.R992T	WDR64_ENST00000437684.2_Missense_Mutation_p.R825T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	992										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGATTCGAAGATATCCCTTG	0.428000													28	117					0	0	0.00127121	0	0
AGBL5	60509	broad.mit.edu	37	2	27278036	27278036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:27278036C>T	ENST00000360131.4	+	6	982	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	275					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)					ACCTGATGATCCCCGGGCCCA	0.537000													29	189					0	0	0.001512	0	0
EEF1A2	1917	broad.mit.edu	37	20	62122079	62122079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:62122079G>A	ENST00000217182.3	-	6	947	c.782C>T	c.(781-783)aCg>aTg	p.T261M	EEF1A2_ENST00000298049.7_Missense_Mutation_p.T261M	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACGGGCACCGTGCCAATGCC	0.647000													18	41					0	0	0.000958276	0	0
SYK	6850	broad.mit.edu	37	9	93650902	93650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:93650902A>G	ENST00000375754.4	+	13	1976	c.1828A>G	c.(1828-1830)Aca>Gca	p.T610A	SYK_ENST00000375747.1_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A|SYK_ENST00000375751.4_Missense_Mutation_p.T587A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	610	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTGTGCTGGACATACGAGTG	0.463000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	18					0	0	8.12818e-05	0	0
FBN3	84467	broad.mit.edu	37	19	8191467	8191467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:8191467C>T	ENST00000600128.1	-	20	2853	c.2439G>A	c.(2437-2439)tgG>tgA	p.W813*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813*			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATCTTCAGCCAGCAGGTGC	0.677000													6	12					0	0	0.000157383	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956863	73956863	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:73956863T>A	ENST00000358602.4	-	29	6598	c.6482A>T	c.(6481-6483)cAg>cTg	p.Q2161L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTGGTGTCTGAGGCATAGG	0.532000													39	170					0	0	0.00170553	0	0
DPP10	57628	broad.mit.edu	37	2	116510763	116510763	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:116510763A>C	ENST00000410059.1	+	11	1444	c.964A>C	c.(964-966)Act>Cct	p.T322P	DPP10_ENST00000393147.2_Missense_Mutation_p.T326P|DPP10_ENST00000310323.8_Missense_Mutation_p.T315P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	322					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACTATATCACTATGGTTAA	0.358000													5	34					0	0	0.00116845	0	0
CFHR4	10877	broad.mit.edu	37	1	196876522	196876522	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:196876522G>A	ENST00000367416.2	+	5	827	c.690G>A	c.(688-690)ctG>ctA	p.L230L	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AAGTGTATCTGCCATGGTCAA	0.428000													6	61					0	0	0.00116845	0	0
OR4D5	219875	broad.mit.edu	37	11	123811175	123811175	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:123811175T>C	ENST00000307033.2	+	1	926	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTGAATCCTGCCATCTATA	0.502000													22	86					0	0	0.000375601	0	0
DOCK5	80005	broad.mit.edu	37	8	25154152	25154152	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25154152C>T	ENST00000276440.7	+	7	638	c.594C>T	c.(592-594)atC>atT	p.I198I	DOCK5_ENST00000481100.1_Silent_p.I198I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	198						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAAAAGATCCAAGAAGAGA	0.448000													8	14					0	0	0.000157383	0	0
WASF1	8936	broad.mit.edu	37	6	110421867	110421867	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:110421867T>C	ENST00000392589.1	-	11	2374	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	WASF1_ENST00000392586.1_Missense_Mutation_p.K513R|WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000392588.1_Missense_Mutation_p.K513R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	513	WH2.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTCTTCTACTTTGCGTAGCTG	0.363000													14	27					0	0	0.00074312	0	0
ZNF250	58500	broad.mit.edu	37	8	146107269	146107269	+	Silent	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107269C>G	ENST00000292579.7	-	6	1430	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	ZNF250_ENST00000417550.2_Silent_p.L433L|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GGTGCTGGATCAGGTGTGAGT	0.567000													11	62					0	0	0.00136819	0	0
NXF1	10482	broad.mit.edu	37	11	62569082	62569082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62569082C>T	ENST00000531709.2	-	7	774	c.661G>A	c.(661-663)Gat>Aat	p.D221N	NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000532297.1_Missense_Mutation_p.D221N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Missense_Mutation_p.D221N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	221	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGCCATCGTATCGTTTG	0.507000													18	170					0	0	0.00074312	0	0
GAP43	2596	broad.mit.edu	37	3	115395102	115395102	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:115395102C>T	ENST00000393780.3	+	3	849	c.381C>T	c.(379-381)gcC>gcT	p.A127A	GAP43_ENST00000305124.6_Silent_p.A91A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	91					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCGAAGCAGCCCCAGCCACTG	0.592000													9	50					0	0	0.00185496	0	0
FOXO1	2308	broad.mit.edu	37	13	41134865	41134865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:41134865C>T	ENST00000379561.5	-	2	1147	c.763G>A	c.(763-765)Gca>Aca	p.A255T		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	255					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCATGGATGCAGCTCTTCTC	0.517000													18	149					0	0	0.000566183	0	0
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458000													28	288					0	0	0.000878237	0	0
OR10H2	26538	broad.mit.edu	37	19	15839701	15839701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:15839701C>T	ENST00000305899.3	+	1	868	c.848C>T	c.(847-849)aCg>aTg	p.T283M		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCAGTCCTCACGCCCTTCCTC	0.547000													29	119					0	0	0.000339439	0	0
PTPRK	5796	broad.mit.edu	37	6	128404886	128404886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:128404886G>C	ENST00000368227.3	-	9	1915	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	PTPRK_ENST00000368215.3_Missense_Mutation_p.P517A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	517	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P517S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCCATTTGGATCCAAAGGT	0.368000													23	99					0	0	0.00188189	0	0
PPFIA2	8499	broad.mit.edu	37	12	81777935	81777935	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:81777935A>T	ENST00000550584.2	-	8	1146	c.851T>A	c.(850-852)aTg>aAg	p.M284K	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	210										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATCTGGGCCATTTCATAGTT	0.413000													10	25					0	0	0.000442599	0	0
PRPF4B	8899	broad.mit.edu	37	6	4037761	4037761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:4037761C>T	ENST00000337659.6	+	3	1469	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	457	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCACTCAGACGTAGCAGGTC	0.448000													20	41					0	0	0.00188189	0	0
NINL	22981	broad.mit.edu	37	20	25459583	25459583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:25459583T>C	ENST00000278886.6	-	16	2250	c.2177A>G	c.(2176-2178)cAt>cGt	p.H726R	NINL_ENST00000422516.1_Missense_Mutation_p.H726R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	726					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTGGCTGTGATGCCGCAGGGC	0.582000													33	73					0	0	0.00058488	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212521732	212521732	+	Splice_Site	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:212521732A>T	ENST00000261461.2	+	7	1340	c.764_splice	c.e7-1	p.I256_splice	PPP2R5A_ENST00000537030.3_Splice_Site_p.I199_splice	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	256					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCCCTCCAGTATTATCAATGG	0.368000													28	67					0	0	0.000878237	0	0
EHD1	10938	broad.mit.edu	37	11	64627443	64627443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:64627443C>A	ENST00000320631.3	-	3	1122	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	EHD1_ENST00000359393.2_Missense_Mutation_p.A290S	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	290					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	p.A290T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCCTGAGGGCGGCGTTTCGG	0.637000													46	32					3.21987e-24	2.01689e-23	0.000781405	1	0
SCN1A	6323	broad.mit.edu	37	2	166901572	166901572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:166901572C>G	ENST00000423058.2	-	10	1660	c.1643G>C	c.(1642-1644)aGg>aCg	p.R548T	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R548T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	548						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)	GGAGGAGTACCTCTTTTCATA	0.433000													44	82					0	0	0.000509022	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127041	20127041	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr22:20127041G>A	ENST00000334554.7	+	3	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ZDHHC8_ENST00000405930.3_Silent_p.P89P|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Silent_p.P89P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	89						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCCGGGCTCCGCTGTACAAGA	0.607000													61	44					0	0	0.000781405	0	0
DIAPH3	81624	broad.mit.edu	37	13	60413536	60413536	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:60413536C>A	ENST00000400324.4	-	23	3004	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H	DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	928	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTGTTGAAGCTGCCTTCCCA	0.383000													16	38					1.15088e-07	6.74085e-07	0.000422831	1	0
DMP1	1758	broad.mit.edu	37	4	88584472	88584472	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:88584472G>C	ENST00000339673.6	+	6	1641	c.1542G>C	c.(1540-1542)taG>taC	p.*514Y	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	0					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACGGCTATTAGCATCAGCTGT	0.373000													32	134					0	0	0.000409698	0	0
CNGA1	1259	broad.mit.edu	37	4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:47939078C>T	ENST00000402813.3	-	10	1782	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000514170.1_Missense_Mutation_p.R478H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	478					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCAAAAATGCGTACCTTTTT	0.378000													22	92					0	0	0.00188189	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236550	207236550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:207236550T>C	ENST00000367080.3	+	5	495	c.371T>C	c.(370-372)aTt>aCt	p.I124T	PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	124	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AATGGTCAGATTGCGGTAAGC	0.532000													9	98					0	0	0.000274275	0	0
PGM3	5238	broad.mit.edu	37	6	83896760	83896760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:83896760C>T	ENST00000513973.1	-	4	540	c.424G>A	c.(424-426)Gat>Aat	p.D142N	PGM3_ENST00000283977.4_Missense_Mutation_p.D61N|PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	142					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCACACCATCTATTACAGAT	0.353000													20	61					0	0	0.000586117	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	21					0	0	0.000219431	0	0
MYSM1	114803	broad.mit.edu	37	1	59131251	59131251	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:59131251T>C	ENST00000472487.1	-	17	2123	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTCGATTATAGGGACTAAC	0.333000													9	67					0	0	0.000673444	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33885692	33885692	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:33885692A>C	ENST00000307296.3	+	11	1825	c.1448A>C	c.(1447-1449)gAa>gCa	p.E483A	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	483	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCATCCAATGAACTGTATAAG	0.343000													4	63					0	0	0.000602214	0	0
STK31	56164	broad.mit.edu	37	7	23825129	23825129	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:23825129A>G	ENST00000354639.3	+	18	2576	c.2112A>G	c.(2110-2112)gaA>gaG	p.E704E	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000355870.3_Silent_p.E727E|STK31_ENST00000433467.2_Silent_p.E727E	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGCTTGGAACGAGATCTTC	0.403000													35	90					0	0	0.000814825	0	0
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363000													14	53					0	0	0.00185496	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478000													3	138					0	0	0.000602214	0	0
THSD7A	221981	broad.mit.edu	37	7	11675953	11675953	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:11675953T>A	ENST00000423059.3	-	2	1077	c.826A>T	c.(826-828)Aga>Tga	p.R276*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	276						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCCCGCGTCTCCTTGCTTGT	0.537000										HNSCC(18;0.044)			32	95					0	0	0.000409698	0	0
NMT2	9397	broad.mit.edu	37	10	15151773	15151773	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr10:15151773C>G	ENST00000378165.4	-	11	1484	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	468					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTATACCAAACTTGAGTTTTT	0.328000													14	91					0	0	0.000566183	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361225	105361225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:105361225C>T	ENST00000297581.2	+	2	494	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.Q149*	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	149					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGAGGCAATTCAGTGGATTTA	0.418000													14	84					0	0	0.000219431	0	0
MTOR	2475	broad.mit.edu	37	1	11298657	11298657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:11298657A>G	ENST00000361445.4	-	12	1880	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	602					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGGCGAACAAATTGGGTCAGA	0.532000													8	5					0	0	0.000157383	0	0
CSMD3	114788	broad.mit.edu	37	8	113988168	113988168	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:113988168C>A	ENST00000297405.5	-	7	1484	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGAGAGCCCGTCCTTGGAC	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	117					6.33239e-15	3.83343e-14	0.00152264	1	0
NKX2-4	644524	broad.mit.edu	37	20	21377938	21377938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:21377938C>T	ENST00000351817.4	-	1	728	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ccgggtggcgcgccgTCCATG	0.731000													4	7					0	0	0.00024832	0	0
GPR98	84059	broad.mit.edu	37	5	90041015	90041015	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:90041015C>G	ENST00000405460.2	+	51	10798	c.10702C>G	c.(10702-10704)Cta>Gta	p.L3568V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3568					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAATAGCTCTAGTGGGAGC	0.368000													40	134					0	0	0.00170553	0	0
CT47B1	643311	broad.mit.edu	37	X	120008850	120008850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:120008850C>G	ENST00000371311.3	-	1	929	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctgGGGGTTTCTCATCTGCGG	0.701000													7	128					0	0	0.000157383	0	0
PDHA2	5161	broad.mit.edu	37	4	96761919	96761919	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:96761919C>T	ENST00000295266.4	+	1	681	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	206					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGAAGCTTTCAATATGGCAG	0.443000													14	49					0	0	0.000219431	0	0
OR5F1	338674	broad.mit.edu	37	11	55761646	55761646	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:55761646C>A	ENST00000278409.1	-	1	455	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTTCAGCAACCCTGCAGCAA	0.507000													11	60					9.70103e-10	5.71917e-09	0.000673444	1	0
ESRRB	2103	broad.mit.edu	37	14	76957942	76957942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:76957942C>T	ENST00000380887.2	+	6	1012	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	ESRRB_ENST00000509242.1_Missense_Mutation_p.L314F|ESRRB_ENST00000556177.1_Missense_Mutation_p.L314F|ESRRB_ENST00000261532.7_Missense_Mutation_p.L314F			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	314						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCACTCCCGCCTCGCGGGGCT	0.592000													4	9					0	0	0.000602214	0	0
MAPK4	5596	broad.mit.edu	37	18	48252451	48252451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:48252451C>T	ENST00000400384.2	+	5	2009	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114*|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	325					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACCTCACAACACCCCTT	0.582000													36	31					0	0	0.000692331	0	0
COL4A2	1284	broad.mit.edu	37	13	111102707	111102707	+	Silent	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:111102707C>G	ENST00000360467.5	+	20	1551	c.1245C>G	c.(1243-1245)ccC>ccG	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637000													3	81					0	0	6.4e-05	0	0
SETDB1	9869	broad.mit.edu	37	1	150934615	150934615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:150934615G>A	ENST00000271640.5	+	17	3329	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1047	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACACTGACGACCGAAACAA	0.438000													73	177					0	0	0.000781405	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	45					0	0	6.4e-05	0	0
PAPPA	5069	broad.mit.edu	37	9	118997917	118997917	+	Splice_Site	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:118997917G>T	ENST00000328252.3	+	7	3101		c.e7+1		PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCGTAGACATGTAAGTGCATT	0.507000													42	103					5.2432e-18	3.21726e-17	0.000781405	1	0
NID2	22795	broad.mit.edu	37	14	52520462	52520462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:52520462G>T	ENST00000216286.5	-	5	1263	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	NID2_ENST00000541773.1_Missense_Mutation_p.P369T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	422						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGGTAGGGCTGGATGCTT	0.552000													23	59					1.10513e-12	6.64554e-12	0.000295444	1	0
BYSL	705	broad.mit.edu	37	6	41889501	41889501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:41889501G>C	ENST00000230340.4	+	1	576	c.201G>C	c.(199-201)gaG>gaC	p.E67D		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	67					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAACAGGAGGAACTCGAGG	0.677000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	26					0	0	0.000308642	0	0
PYGO1	26108	broad.mit.edu	37	15	55838317	55838317	+	Silent	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:55838317T>A	ENST00000302000.6	-	3	1258	c.1164A>T	c.(1162-1164)gcA>gcT	p.A388A	PYGO1_ENST00000563719.1_Silent_p.A388A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	388					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGCCCCATACTGCAGATGCTT	0.448000													25	60					0	0	0.000375601	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	98					0	0	0.000602214	0	0
SMG1	23049	broad.mit.edu	37	16	18875116	18875116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:18875116T>C	ENST00000446231.2	-	25	3963	c.3551A>G	c.(3550-3552)aAt>aGt	p.N1184S	SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1184	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCTAAATAATTTATAACCTC	0.403000													13	36					0	0	0.00074312	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143094	21143094	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:21143094G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AGAATACTGTGAATCTGAAAA	0.468000													8	20					0	0	0.000157383	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													3	104					0	0	0.00024832	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723492	58723492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:58723492C>G	ENST00000300079.5	+	7	1044	c.994C>G	c.(994-996)Cca>Gca	p.P332A	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P301A|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418000													3	86					0	0	0.000602214	0	0
WDR53	348793	broad.mit.edu	37	3	196281606	196281606	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:196281606T>C	ENST00000332629.5	-	4	1120	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	185										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGGCCTTCCATTTCTTCTGTT	0.438000													80	288					0	0	0.000781405	0	0
STEAP4	79689	broad.mit.edu	37	7	87913172	87913172	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:87913172G>C	ENST00000380079.4	-	2	514	c.413C>G	c.(412-414)tCa>tGa	p.S138*	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	138					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCCCAGGCTGAGATGGTGTT	0.418000													404	101					0	0	0.000781405	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148997	45148997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:45148997G>A	ENST00000458659.2	-	1	1704	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	405					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTGAACCTCGAAGTGTTAAC	0.438000													25	83					0	0	0.000720815	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	136					0	0	0.00024832	0	0
OR6C1	390321	broad.mit.edu	37	12	55714812	55714812	+	Silent	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:55714812T>G	ENST00000379668.2	+	1	467	c.429T>G	c.(427-429)gtT>gtG	p.V143V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CACTGCTTGTTTTTACTTCTT	0.408000													6	22					0	0	0.00116845	0	0
TXNRD1	7296	broad.mit.edu	37	12	104732985	104732985	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:104732985G>A	ENST00000526691.1	+	14	1977	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	TXNRD1_ENST00000524698.1_Silent_p.A455A|TXNRD1_ENST00000378070.4_Silent_p.A554A|TXNRD1_ENST00000525566.1_Silent_p.A605A|TXNRD1_ENST00000429002.2_Silent_p.A605A|TXNRD1_ENST00000388854.3_Silent_p.A507A|TXNRD1_ENST00000529546.1_Silent_p.A417A|TXNRD1_ENST00000540716.1_Silent_p.A417A|TXNRD1_ENST00000542918.1_Silent_p.A505A|TXNRD1_ENST00000427956.1_Silent_p.A570A|TXNRD1_ENST00000354940.6_Silent_p.A455A|TXNRD1_ENST00000526950.1_Silent_p.A524A|TXNRD1_ENST00000526390.1_Silent_p.A499A|TXNRD1_ENST00000503506.2_Silent_p.A455A|TXNRD1_ENST00000397736.2_Silent_p.A499A	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	605					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TTGCAGCTGCGCTCAAATGTG	0.433000													9	29					0	0	0.000442599	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260222	19260222	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:19260222C>G	ENST00000602424.2	-	5	797	c.71G>C	c.(70-72)cGg>cCg	p.R24P	MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCCGAACTTCCGCTTGGTGAA	0.562000													16	54					0	0	0.00074312	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142746	5142746	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:5142746G>A	ENST00000498233.1	-	0	652																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAACCGGGGATCCCAATAA	0.418000													24	119					0	0	0.000878237	0	0
SCAF11	9169	broad.mit.edu	37	12	46315837	46315837	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:46315837T>C	ENST00000465950.1	-	5	4650	c.3441A>G	c.(3439-3441)atA>atG	p.I1147M	SCAF11_ENST00000419565.2_Missense_Mutation_p.I1462M|SCAF11_ENST00000369367.3_Missense_Mutation_p.I1462M|SCAF11_ENST00000550629.1_Intron|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1270M			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1462					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTTCAGCCTATGTTTTTTT	0.378000													3	148					0	0	6.4e-05	0	0
DNM1L	10059	broad.mit.edu	37	12	32886735	32886735	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:32886735T>C	ENST00000452533.2	+	13	1697	c.1533T>C	c.(1531-1533)aaT>aaC	p.N511N	DNM1L_ENST00000381000.4_Silent_p.N524N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000266481.6_Silent_p.N511N|DNM1L_ENST00000553257.1_Silent_p.N524N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000549701.1_Silent_p.N511N	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	511	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAACAATAATATAGAGGTAA	0.303000													53	148					0	0	0.000781405	0	0
ZNF43	7594	broad.mit.edu	37	19	21990434	21990434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:21990434G>A	ENST00000594012.1	-	7	2901	c.2387C>T	c.(2386-2388)cCt>cTt	p.P796L	ZNF43_ENST00000354959.4_Missense_Mutation_p.P802L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGTTTGAGGTGTTGTCAA	0.313000													9	43					0	0	0.000274275	0	0
SYTL1	84958	broad.mit.edu	37	1	27677312	27677312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:27677312G>T	ENST00000543823.1	+	10	1495	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	345	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCTTCAGGGCCGCGTGCT	0.642000													20	24					2.70639e-06	1.57495e-05	0.000295444	1	0
CDCA2	157313	broad.mit.edu	37	8	25365207	25365207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25365207C>G	ENST00000330560.3	+	15	3502	c.3025C>G	c.(3025-3027)Ctg>Gtg	p.L1009V	CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1009					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAGAGCTCTCTGACTGCCTT	0.433000													15	99					0	0	0.000566183	0	0
GBP7	388646	broad.mit.edu	37	1	89616146	89616146	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:89616146T>A	ENST00000294671.2	-	6	876	c.738A>T	c.(736-738)ttA>ttT	p.L246F		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	246						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAACATGGAGTAAGAGTTTTT	0.383000													22	49					0	0	0.000295444	0	0
CDH19	28513	broad.mit.edu	37	18	64172067	64172067	+	Silent	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:64172067T>A	ENST00000262150.2	-	12	2593	c.2301A>T	c.(2299-2301)gcA>gcT	p.A767A		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGACTGCACTGCAGAACCAA	0.388000													18	19					0	0	0.00188189	0	0
EGFR	1956	broad.mit.edu	37	7	55210124	55210124	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:55210124C>G	ENST00000275493.2	+	2	411	c.234C>G	c.(232-234)ttC>ttG	p.F78L	EGFR_ENST00000344576.2_Missense_Mutation_p.F78L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000455089.1_Missense_Mutation_p.F78L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	78					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATCTTTCCTTCTTAAAGGTTG	0.378000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	1031					0	0	0.000274275	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													2	2					0	0	6.4e-05	0	0
FLG	2312	broad.mit.edu	37	1	152286148	152286148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:152286148G>C	ENST00000368799.1	-	3	1249	c.1214C>G	c.(1213-1215)gCt>gGt	p.A405G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	405	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGCCCGCG	0.562000									Ichthyosis				140	335					0	0	0.000781405	0	0
GSS	2937	broad.mit.edu	37	20	33524591	33524591	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:33524591G>A	ENST00000216951.2	-	8	840	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GSS_ENST00000451957.2_Silent_p.L137L|GSS_ENST00000541098.1_Silent_p.L120L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	248					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCTTGGTCCAGAGACCCCTTT	0.473000													43	226					0	0	0.000781405	0	0
MAPK4	5596	broad.mit.edu	37	18	48252451	48252451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr18:48252451C>T	ENST00000400384.2	+	5	2009	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	325					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACCTCACAACACCCCTT	0.582000													36	31					0	0	0.000692331	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862909	10862909	+	RNA	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr21:10862909T>G	ENST00000559480.1	+	0	205																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGGATGGGATTGGTGTGCCC	0.542000													11	239					0	0	0.00244969	0	0
COQ10A	93058	broad.mit.edu	37	12	56663287	56663287	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:56663287T>C	ENST00000308197.5	+	4	779	c.518T>C	c.(517-519)aTt>aCt	p.I173T	COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	173						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTAGAGACTATTTGGCGATTC	0.438000													22	143					0	0	0.00229938	0	0
KCNH7	90134	broad.mit.edu	37	2	163228467	163228467	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:163228467G>T	ENST00000332142.5	-	16	3562	c.3463C>A	c.(3463-3465)Cac>Aac	p.H1155N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCCGCAGGTGAAGCTCTAAA	0.428000													8	47					1.12685e-05	4.26544e-05	0.000274275	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	63					0	0	6.4e-05	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127041	20127041	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr22:20127041G>A	ENST00000334554.7	+	3	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ZDHHC8_ENST00000320602.7_Silent_p.P89P|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Silent_p.P89P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	89						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCCGGGCTCCGCTGTACAAGA	0.607000													61	44					0	0	0.000781405	0	0
COL4A5	1287	broad.mit.edu	37	X	107924156	107924156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:107924156G>T	ENST00000328300.6	+	46	4301	c.4057G>T	c.(4057-4059)Gag>Tag	p.E1353*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1347*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1347	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCTGGCCCTGAGGGGGAACC	0.448000									Alport syndrome with Diffuse Leiomyomatosis				51	25					1.86277e-20	7.66219e-20	0.000781405	1	0
FGFR4	2264	broad.mit.edu	37	5	176519733	176519733	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr5:176519733A>G	ENST00000292408.4	+	8	1250	c.1005A>G	c.(1003-1005)gcA>gcG	p.A335A	FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A|FGFR4_ENST00000292410.3_Silent_p.A335A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	335	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTGCCTCGCAGGCAATTCCA	0.637000										TSP Lung(9;0.080)			23	31					0	0	0.000720815	0	0
CT47B1	643311	broad.mit.edu	37	X	120008850	120008850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:120008850C>G	ENST00000371311.3	-	1	929	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctgGGGGTTTCTCATCTGCGG	0.701000													7	128					0	0	0.000157383	0	0
PZP	5858	broad.mit.edu	37	12	9353588	9353588	+	Silent	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:9353588G>C	ENST00000261336.2	-	6	598	c.570C>G	c.(568-570)tcC>tcG	p.S190S	PZP_ENST00000381997.2_Silent_p.S59S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGAGGGGAAAGGACAACTGAT	0.498000													27	130					0	0	0.00106085	0	0
SYNE2	23224	broad.mit.edu	37	14	64468762	64468762	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr14:64468762A>T	ENST00000358025.3	+	29	3979	c.3749A>T	c.(3748-3750)cAt>cTt	p.H1250L	SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGGATTTCATCTCATTGAT	0.418000													33	81					0	0	0.00178596	0	0
CHST4	10164	broad.mit.edu	37	16	71570812	71570812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr16:71570812G>A	ENST00000338482.5	+	3	575	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M|CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	78					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCCTGGCACGTGTGGATGAC	0.577000													30	62					0	0	0.00209593	0	0
MTOR	2475	broad.mit.edu	37	1	11298657	11298657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:11298657A>G	ENST00000361445.4	-	12	1880	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	602					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGGCGAACAAATTGGGTCAGA	0.532000													8	5					0	0	0.000157383	0	0
LPPR4	9890	broad.mit.edu	37	1	99772515	99772515	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:99772515T>C	ENST00000370185.3	+	7	2738	c.2241T>C	c.(2239-2241)acT>acC	p.T747T	LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		747							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCGAAAACACTAGAAATATCT	0.473000													23	55					0	0	0.00278032	0	0
PLCB4	5332	broad.mit.edu	37	20	9364994	9364994	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:9364994G>A	ENST00000378501.2	+	11	1015	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	334	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTATCTCACTGGCAGACAGTT	0.463000													35	71					0	0	0.000692331	0	0
NBAS	51594	broad.mit.edu	37	2	15415923	15415923	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:15415923C>T	ENST00000281513.5	-	44	5434	c.5409G>A	c.(5407-5409)ctG>ctA	p.L1803L	NBAS_ENST00000441750.1_Silent_p.L1683L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1803										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCATCTGTCAGCTTTTTGT	0.363000													6	93					0	0	0.00116845	0	0
CFHR4	10877	broad.mit.edu	37	1	196876522	196876522	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:196876522G>A	ENST00000367416.2	+	5	827	c.690G>A	c.(688-690)ctG>ctA	p.L230L	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AAGTGTATCTGCCATGGTCAA	0.428000													6	61					0	0	0.00116845	0	0
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:90097155G>T	ENST00000369415.4	-	2	579	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	101					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428000													98	190					5.01286e-43	2.08982e-42	0.000781405	1	0
ICAM2	3384	broad.mit.edu	37	17	62081229	62081229	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:62081229G>T	ENST00000412356.1	-	5	778	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M|ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	142	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGCTGTCCAGGGGCTCCACG	0.607000													7	45					0.000157383	0.000588518	0.000157383	1	0
LRP1B	53353	broad.mit.edu	37	2	141299370	141299370	+	Silent	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:141299370A>T	ENST00000389484.3	-	44	8336	c.7365T>A	c.(7363-7365)gcT>gcA	p.A2455A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2455					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGCAACAGCTATGATTC	0.363000										TSP Lung(27;0.18)			9	137					0	0	0.000442599	0	0
ALKBH8	91801	broad.mit.edu	37	11	107431547	107431547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:107431547C>T	ENST00000428149.2	-	2	224	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	25					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATGCTTGGCTTTAATCTGT	0.348000													13	29					0	0	0.00185496	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984689	51984689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:51984689T>C	ENST00000396477.4	+	3	464	c.443T>C	c.(442-444)cTg>cCg	p.L148P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	209						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCAGCTCCCTGGTGGAGAAC	0.507000													27	23					0	0	0.00106085	0	0
XIRP2	129446	broad.mit.edu	37	2	168115072	168115072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:168115072G>T	ENST00000409728.1	+	11	2204	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	XIRP2_ENST00000409605.1_Missense_Mutation_p.E450D|XIRP2_ENST00000409043.1_Missense_Mutation_p.E672D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E672D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E705D|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAAGGAGAAAAATGAAA	0.348000													5	24					1.23904e-05	4.66151e-05	0.000602214	1	0
C3AR1	719	broad.mit.edu	37	12	8211391	8211391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:8211391C>T	ENST00000307637.4	-	2	1594	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	464					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGGGTGGAACGTGTGAGCTC	0.473000													34	91					0	0	0.00058488	0	0
LRRC28	123355	broad.mit.edu	37	15	99901641	99901641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:99901641G>A	ENST00000301981.3	+	8	1036	c.796G>A	c.(796-798)Gag>Aag	p.E266K	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	266										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATAGGGACGGAGCATGATCA	0.522000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	63					0	0	0.000781405	0	0
ASMT	438	broad.mit.edu	37	X	1752052	1752052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:1752052G>C	ENST00000381241.3	+	7	855	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ASMT_ENST00000381229.4_Missense_Mutation_p.G191A|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	191					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGGGCTGGAGCTCTGGCT	0.537000													39	172					0	0	0.00148497	0	0
ZNF479	90827	broad.mit.edu	37	7	57188238	57188238	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:57188238C>G	ENST00000331162.4	-	5	1154	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R295I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.473000													6	70					0	0	0.000274275	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834842	27834842	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:27834842G>C	ENST00000331442.3	-	1	517	c.466C>G	c.(466-468)Ccg>Gcg	p.P156A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCTTCTTCGGAGTCTTCTTC	0.602000													5	231					0	0	0.00116845	0	0
CACNA1B	774	broad.mit.edu	37	9	140911625	140911625	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr9:140911625A>T	ENST00000277550.3	+	3	175	c.175A>T	c.(175-177)Agc>Tgc	p.S59C	CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	766					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTATCTCGCAGCTCATCTGT	0.473000													13	29					0	0	0.00136819	0	0
SPIDR	23514	broad.mit.edu	37	8	48614380	48614380	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:48614380A>G	ENST00000297423.4	+	13	2255	c.1871A>G	c.(1870-1872)aAg>aGg	p.K624R	SPIDR_ENST00000517693.1_Missense_Mutation_p.K99R|SPIDR_ENST00000518074.1_Missense_Mutation_p.K564R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.K554R	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		CCCATTTATAAGCTTTACCAG	0.428000													91	170					0	0	0.000781405	0	0
NDN	4692	broad.mit.edu	37	15	23931584	23931584	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:23931584A>G	ENST00000331837.4	-	1	866	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	261	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGCCCCAAAAGAACTCGTAT	0.572000									Prader-Willi syndrome				5	56					0	0	0.00198382	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958362	122958362	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:122958362C>A	ENST00000543897.1	-	12	3447	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E213D|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E602D|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E364D			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	602						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTGATGTCACCTCAGAGTCTG	0.463000													7	250					0.00198382	0.00737359	0.00198382	1	0
OLFM4	10562	broad.mit.edu	37	13	53608558	53608558	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:53608558T>A	ENST00000219022.2	+	2	358	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	94					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGACACCACCTTTCCCGTGGA	0.443000													10	84					0	0	0.000673444	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649492	20649492	+	RNA	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:20649492C>G	ENST00000428453.1	-	0	2706																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGTCGTCCTCTGTGTCCGAA	0.562000													38	137					0	0	0.000781405	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556434	44556434	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:44556434G>A	ENST00000289547.4	-	17	3523	c.3468C>T	c.(3466-3468)ctC>ctT	p.L1156L	NPC1L1_ENST00000381160.3_Silent_p.L1129L|NPC1L1_ENST00000546276.1_Silent_p.L1083L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1156					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCCAGCAGGAGGCAGGAGA	0.592000													14	42					0	0	0.000308642	0	0
PRB4	5545	broad.mit.edu	37	12	11461798	11461798	+	Missense_Mutation	SNP	C	C	T	rs77336955		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:11461798C>T	ENST00000279575.1	-	3	152	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRB4_ENST00000535904.1_Missense_Mutation_p.R40H|PRB4_ENST00000445719.2_Missense_Mutation_p.R40H	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	40	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.R40P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCCTTGTGGGCGTCGTCCTTC	0.552000										HNSCC(22;0.051)			33	444					0	0	0.000953801	0	0
POM121	9883	broad.mit.edu	37	7	72413634	72413634	+	Silent	SNP	G	G	A	rs139238552	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:72413634G>A	ENST00000395270.1	+	14	3348	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	POM121_ENST00000446813.1_Silent_p.T769T|POM121_ENST00000358357.3_Silent_p.T769T|POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000434423.2_Silent_p.T1034T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1034	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652000													18	154					0	0	0.00229938	0	0
BYSL	705	broad.mit.edu	37	6	41889501	41889501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:41889501G>C	ENST00000230340.4	+	1	576	c.201G>C	c.(199-201)gaG>gaC	p.E67D		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	67					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAACAGGAGGAACTCGAGG	0.677000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	26					0	0	0.000308642	0	0
EEF1D	1936	broad.mit.edu	37	8	144671365	144671365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:144671365C>T	ENST00000532741.1	-	1	1265	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G296E|EEF1D_ENST00000423316.2_Missense_Mutation_p.G296E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGCCTCCCCATCGGCCCG	0.716000													4	18					0	0	0.00024832	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741393	156741393	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr5:156741393G>A	ENST00000347377.6	+	12	1583	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.E309E|CYFIP2_ENST00000521420.1_Silent_p.E358E|CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000377576.3_Silent_p.E384E	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	384					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCAGACGAGGAGTATCGCG	0.567000													22	35					0	0	0.00047179	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205025	26205025	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:26205025C>A	ENST00000360441.4	+	1	168	c.153C>A	c.(151-153)atC>atA	p.I51I		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGTCTCATCTACGAGGAGA	0.562000													38	68					6.99958e-10	2.75079e-09	0.00148497	1	0
RIMS2	9699	broad.mit.edu	37	8	104987601	104987601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:104987601C>G	ENST00000507740.1	+	13	2406	c.2170C>G	c.(2170-2172)Ctt>Gtt	p.L724V	RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V|RIMS2_ENST00000436393.2_Missense_Mutation_p.L710V|RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	994	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCGAGATCTTCAAAGCTC	0.358000										HNSCC(12;0.0054)			8	29					0	0	0.000157383	0	0
APBA1	320	broad.mit.edu	37	9	72131553	72131553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr9:72131553C>T	ENST00000265381.4	-	2	796	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	192					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCTGGAGGCCGCCGTAGTCG	0.687000													5	26					0	0	0.000602214	0	0
IFT43	112752	broad.mit.edu	37	14	76549919	76549919	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr14:76549919G>C	ENST00000314067.6	+	9	660	c.626G>C	c.(625-627)tGa>tCa	p.*209S	IFT43_ENST00000238628.6_Nonstop_Mutation_p.*214S	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	0					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGCACACCTGAGCCCGTCAC	0.512000													6	57					0	0	0.00116845	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811511	5811511	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:5811511A>G	ENST00000381095.3	-	6	2425	c.1798T>C	c.(1798-1800)Ttg>Ctg	p.L600L	NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L|NLGN4X_ENST00000538097.1_Silent_p.L600L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	600					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTCAAGTTGTGCAAA	0.483000													49	38					0	0	0.000781405	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473131	22473131	+	RNA	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:22473131G>T	ENST00000557788.2	-	0	139																											ACTGCTGATGGAGCCACCAGA	0.612000													29	153					3.73988e-18	1.52815e-17	0.00106085	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455394	84455394	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:84455394A>T	ENST00000377084.2	-	1	1134	c.249T>A	c.(247-249)aaT>aaA	p.N83K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	83						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTAACCGCATTATAAAAGT	0.463000													31	65					0	0	0.0024448	0	0
PRRC2B	84726	broad.mit.edu	37	9	134343088	134343088	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr9:134343088A>G	ENST00000357304.4	+	12	1914	c.1859A>G	c.(1858-1860)tAt>tGt	p.Y620C	PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y620C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	620	Gln-rich.						protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGTTCAAGTATCAGAAGTCC	0.557000													20	45					0	0	0.00047179	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393000													78	116					0	0	0.000781405	0	0
SH2D4B	387694	broad.mit.edu	37	10	82363350	82363350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr10:82363350C>T	ENST00000339284.2	+	5	1089	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SH2D4B_ENST00000313455.4_Missense_Mutation_p.A171V|SH2D4B_ENST00000470604.2_Missense_Mutation_p.A219V	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	219	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGGTCCAAGGCGGCTGATGAG	0.662000													5	2					0	0	0.000602214	0	0
PHC1	1911	broad.mit.edu	37	12	9092018	9092018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:9092018A>T	ENST00000433083.2	+	14	2988	c.2843A>T	c.(2842-2844)aAg>aTg	p.K948M	PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M|PHC1_ENST00000543824.1_Missense_Mutation_p.K993M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	993	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTGCCCTCAAGATCTGCGCC	0.488000													13	14					0	0	0.00244969	0	0
TMTC3	160418	broad.mit.edu	37	12	88589416	88589416	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:88589416A>G	ENST00000266712.6	+	14	2955	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	913						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CGTATTTTAAATGGTGAATAA	0.333000													12	50					0	0	0.000978159	0	0
ZNF250	58500	broad.mit.edu	37	8	146107136	146107136	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:146107136C>G	ENST00000292579.7	-	6	1563	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552000													7	41					0	0	0.000157383	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	64					0	0	0.00116845	0	0
COL22A1	169044	broad.mit.edu	37	8	139601580	139601580	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:139601580G>A	ENST00000303045.6	-	65	5243	c.4797C>T	c.(4795-4797)ccC>ccT	p.P1599P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1579P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1599	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGGGACCGGGAGGTCCTG	0.622000										HNSCC(7;0.00092)			7	36					0	0	0.000442599	0	0
ROS1	6098	broad.mit.edu	37	6	117724426	117724426	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	26					0	0	0.000978159	0	0
PTPN21	11099	broad.mit.edu	37	14	88945598	88945598	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr14:88945598C>G	ENST00000556564.1	-	13	2461	c.2177G>C	c.(2176-2178)cGg>cCg	p.R726P	PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	726						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAGGCGCCCGGGCCCCGCT	0.701000													3	20					0	0	6.4e-05	0	0
CMYA5	202333	broad.mit.edu	37	5	79027402	79027402	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr5:79027402T>C	ENST00000446378.2	+	2	2845	c.2814T>C	c.(2812-2814)gaT>gaC	p.D938D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	938						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAGAAGATCAAGAAGACA	0.413000													48	39					0	0	0.000781405	0	0
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483000													50	98					0	0	0.000781405	0	0
KDM6B	23135	broad.mit.edu	37	17	7752094	7752094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:7752094G>A	ENST00000254846.5	+	11	2877	c.2488G>A	c.(2488-2490)Ggg>Agg	p.G830R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G830R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	830	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACCCGGCCTGGGCCCTTGCC	0.682000													9	131					0	0	0.000442599	0	0
BPNT1	10380	broad.mit.edu	37	1	220253139	220253139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:220253139G>C	ENST00000469520.2	-	3	499	c.50C>G	c.(49-51)tCt>tGt	p.S17C	BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C|BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTGAGCAATAGAATATGCGGA	0.413000													8	56					0	0	0.000274275	0	0
LEMD3	23592	broad.mit.edu	37	12	65564805	65564805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:65564805C>G	ENST00000308330.2	+	1	1455	c.1429C>G	c.(1429-1431)Ctc>Gtc	p.L477V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	477					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTCGATGTTTCTCTTAACTGC	0.478000													23	38					0	0	0.00188189	0	0
NDNF	79625	broad.mit.edu	37	4	121958183	121958183	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr4:121958183A>T	ENST00000379692.4	-	4	1469	c.943T>A	c.(943-945)Ttt>Att	p.F315I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	315	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTGACCACAAATACATCAAAG	0.453000													15	71					0	0	0.00074312	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283873	33283873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:33283873G>A	ENST00000431845.2	-	2	972	c.821C>T	c.(820-822)gCa>gTa	p.A274V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAACCACTGCCCCCCTCCC	0.607000													12	45					0	0	0.000978159	0	0
ZRANB3	84083	broad.mit.edu	37	2	136111147	136111147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:136111147C>G	ENST00000401392.1	-	4	444	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E78Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	78	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCCATTCCTCTTTATAGAAG	0.343000													3	44					0	0	6.4e-05	0	0
WDR64	128025	broad.mit.edu	37	1	241958516	241958516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:241958516G>C	ENST00000366552.2	+	25	3182	c.2975G>C	c.(2974-2976)aGa>aCa	p.R992T	WDR64_ENST00000437684.2_Missense_Mutation_p.R825T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	992										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGATTCGAAGATATCCCTTG	0.428000													28	117					0	0	0.00127121	0	0
EEF1A2	1917	broad.mit.edu	37	20	62122079	62122079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:62122079G>A	ENST00000217182.3	-	6	947	c.782C>T	c.(781-783)aCg>aTg	p.T261M	EEF1A2_ENST00000298049.7_Missense_Mutation_p.T261M	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACGGGCACCGTGCCAATGCC	0.647000													18	41					0	0	0.000958276	0	0
SYK	6850	broad.mit.edu	37	9	93650902	93650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr9:93650902A>G	ENST00000375754.4	+	13	1976	c.1828A>G	c.(1828-1830)Aca>Gca	p.T610A	SYK_ENST00000375751.4_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A|SYK_ENST00000375747.1_Missense_Mutation_p.T587A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	610	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTGTGCTGGACATACGAGTG	0.463000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	18					0	0	0.00198382	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889583	23889583	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:23889583A>G	ENST00000532292.1	-	1	1592	c.1498T>C	c.(1498-1500)Tcc>Ccc	p.S500P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCTAAATAGGATGCCACCAAA	0.423000													5	40					0	0	0.000602214	0	0
FBN3	84467	broad.mit.edu	37	19	8191467	8191467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:8191467C>T	ENST00000600128.1	-	20	2853	c.2439G>A	c.(2437-2439)tgG>tgA	p.W813*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813*			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATCTTCAGCCAGCAGGTGC	0.677000													6	12					0	0	0.000157383	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956863	73956863	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr4:73956863T>A	ENST00000358602.4	-	29	6598	c.6482A>T	c.(6481-6483)cAg>cTg	p.Q2161L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTGGTGTCTGAGGCATAGG	0.532000													39	170					0	0	0.00170553	0	0
CT47B1	643311	broad.mit.edu	37	X	120008849	120008849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:120008849T>A	ENST00000371311.3	-	1	930	c.676A>T	c.(676-678)Aaa>Taa	p.K226*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	226										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tctgGGGGTTTCTCATCTGCG	0.706000													6	136					0	0	0.00198382	0	0
DPP10	57628	broad.mit.edu	37	2	116510763	116510763	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:116510763A>C	ENST00000410059.1	+	11	1444	c.964A>C	c.(964-966)Act>Cct	p.T322P	DPP10_ENST00000310323.8_Missense_Mutation_p.T315P|DPP10_ENST00000393147.2_Missense_Mutation_p.T326P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	322					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACTATATCACTATGGTTAA	0.358000													5	34					0	0	0.00116845	0	0
OR4D5	219875	broad.mit.edu	37	11	123811175	123811175	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:123811175T>C	ENST00000307033.2	+	1	926	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTGAATCCTGCCATCTATA	0.502000													22	86					0	0	0.00278032	0	0
WASF1	8936	broad.mit.edu	37	6	110421867	110421867	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:110421867T>C	ENST00000392589.1	-	11	2374	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	WASF1_ENST00000392588.1_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392586.1_Missense_Mutation_p.K513R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	513	WH2.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTCTTCTACTTTGCGTAGCTG	0.363000													14	27					0	0	0.00074312	0	0
ZNF250	58500	broad.mit.edu	37	8	146107269	146107269	+	Silent	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:146107269C>G	ENST00000292579.7	-	6	1430	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.L433L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GGTGCTGGATCAGGTGTGAGT	0.567000													11	62					0	0	0.00136819	0	0
NXF1	10482	broad.mit.edu	37	11	62569082	62569082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:62569082C>T	ENST00000531709.2	-	7	774	c.661G>A	c.(661-663)Gat>Aat	p.D221N	NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.D221N|NXF1_ENST00000439713.2_Missense_Mutation_p.D221N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	221	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGCCATCGTATCGTTTG	0.507000													18	170					0	0	0.00074312	0	0
GAP43	2596	broad.mit.edu	37	3	115395102	115395102	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr3:115395102C>T	ENST00000393780.3	+	3	849	c.381C>T	c.(379-381)gcC>gcT	p.A127A	GAP43_ENST00000305124.6_Silent_p.A91A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	91					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCGAAGCAGCCCCAGCCACTG	0.592000													9	50					0	0	0.00185496	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													6	13					0	0	0.00198382	0	0
FOXO1	2308	broad.mit.edu	37	13	41134865	41134865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:41134865C>T	ENST00000379561.5	-	2	1147	c.763G>A	c.(763-765)Gca>Aca	p.A255T		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	255					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCATGGATGCAGCTCTTCTC	0.517000													18	149					0	0	0.000566183	0	0
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458000													28	288					0	0	0.000878237	0	0
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637000													5	161					0	0	0.000602214	0	0
OR10H2	26538	broad.mit.edu	37	19	15839701	15839701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:15839701C>T	ENST00000305899.3	+	1	868	c.848C>T	c.(847-849)aCg>aTg	p.T283M		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCAGTCCTCACGCCCTTCCTC	0.547000													29	119					0	0	0.00209593	0	0
PTPRK	5796	broad.mit.edu	37	6	128404886	128404886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:128404886G>C	ENST00000368227.3	-	9	1915	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	PTPRK_ENST00000368215.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	517	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P517S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCCATTTGGATCCAAAGGT	0.368000													23	99					0	0	0.00188189	0	0
OR2T6	254879	broad.mit.edu	37	1	248551197	248551197	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTCATCGCCTGCACTGCTC	0.532000													30	75					3.65163e-15	1.47258e-14	0.00106085	1	0
PPFIA2	8499	broad.mit.edu	37	12	81777935	81777935	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:81777935A>T	ENST00000550584.2	-	8	1146	c.851T>A	c.(850-852)aTg>aAg	p.M284K	RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	210										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATCTGGGCCATTTCATAGTT	0.413000													10	25					0	0	0.000442599	0	0
PRPF4B	8899	broad.mit.edu	37	6	4037761	4037761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:4037761C>T	ENST00000337659.6	+	3	1469	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	457	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCACTCAGACGTAGCAGGTC	0.448000													20	41					0	0	0.00188189	0	0
NINL	22981	broad.mit.edu	37	20	25459583	25459583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:25459583T>C	ENST00000278886.6	-	16	2250	c.2177A>G	c.(2176-2178)cAt>cGt	p.H726R	NINL_ENST00000422516.1_Missense_Mutation_p.H726R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	726					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTGGCTGTGATGCCGCAGGGC	0.582000													33	73					0	0	0.00058488	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212521732	212521732	+	Splice_Site	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:212521732A>T	ENST00000261461.2	+	7	1340	c.764_splice	c.e7-1	p.I256_splice	PPP2R5A_ENST00000537030.3_Splice_Site_p.I199_splice	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	256					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCCCTCCAGTATTATCAATGG	0.368000													28	67					0	0	0.000878237	0	0
EHD1	10938	broad.mit.edu	37	11	64627443	64627443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:64627443C>A	ENST00000320631.3	-	3	1122	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	EHD1_ENST00000359393.2_Missense_Mutation_p.A290S	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	290					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	p.A290T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCCTGAGGGCGGCGTTTCGG	0.637000													46	32					3.21987e-24	1.33333e-23	0.000781405	1	0
SCN1A	6323	broad.mit.edu	37	2	166901572	166901572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:166901572C>G	ENST00000423058.2	-	10	1660	c.1643G>C	c.(1642-1644)aGg>aCg	p.R548T	SCN1A_ENST00000303395.4_Missense_Mutation_p.R548T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T|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	548						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)	GGAGGAGTACCTCTTTTCATA	0.433000													44	82					0	0	0.0025221	0	0
DIAPH3	81624	broad.mit.edu	37	13	60413536	60413536	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:60413536C>A	ENST00000400324.4	-	23	3004	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	928	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTGTTGAAGCTGCCTTCCCA	0.383000													16	38					1.15088e-07	4.46598e-07	0.000422831	1	0
DMP1	1758	broad.mit.edu	37	4	88584472	88584472	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr4:88584472G>C	ENST00000339673.6	+	6	1641	c.1542G>C	c.(1540-1542)taG>taC	p.*514Y	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	0					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACGGCTATTAGCATCAGCTGT	0.373000													32	134					0	0	0.0024448	0	0
DOCK5	80005	broad.mit.edu	37	8	25154152	25154152	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:25154152C>T	ENST00000276440.7	+	7	638	c.594C>T	c.(592-594)atC>atT	p.I198I	DOCK5_ENST00000481100.1_Silent_p.I198I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	198						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAAAAGATCCAAGAAGAGA	0.448000													8	14					0	0	0.000157383	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236550	207236550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:207236550T>C	ENST00000367080.3	+	5	495	c.371T>C	c.(370-372)aTt>aCt	p.I124T	PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	124	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AATGGTCAGATTGCGGTAAGC	0.532000													9	98					0	0	0.000274275	0	0
PGM3	5238	broad.mit.edu	37	6	83896760	83896760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:83896760C>T	ENST00000513973.1	-	4	540	c.424G>A	c.(424-426)Gat>Aat	p.D142N	PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N|PGM3_ENST00000283977.4_Missense_Mutation_p.D61N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	142					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCACACCATCTATTACAGAT	0.353000													20	61					0	0	0.000586117	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	21					0	0	0.00244969	0	0
MYSM1	114803	broad.mit.edu	37	1	59131251	59131251	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:59131251T>C	ENST00000472487.1	-	17	2123	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTCGATTATAGGGACTAAC	0.333000													9	67					0	0	0.000673444	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33885692	33885692	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr3:33885692A>C	ENST00000307296.3	+	11	1825	c.1448A>C	c.(1447-1449)gAa>gCa	p.E483A	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	483	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCATCCAATGAACTGTATAAG	0.343000													4	63					0	0	0.000602214	0	0
STK31	56164	broad.mit.edu	37	7	23825129	23825129	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:23825129A>G	ENST00000354639.3	+	18	2576	c.2112A>G	c.(2110-2112)gaA>gaG	p.E704E	STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000355870.3_Silent_p.E727E	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGCTTGGAACGAGATCTTC	0.403000													35	90					0	0	0.000814825	0	0
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363000													14	53					0	0	0.00185496	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478000													3	138					0	0	0.000602214	0	0
THSD7A	221981	broad.mit.edu	37	7	11675953	11675953	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:11675953T>A	ENST00000423059.3	-	2	1077	c.826A>T	c.(826-828)Aga>Tga	p.R276*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	276						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCCCGCGTCTCCTTGCTTGT	0.537000										HNSCC(18;0.044)			32	95					0	0	0.0024448	0	0
NMT2	9397	broad.mit.edu	37	10	15151773	15151773	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr10:15151773C>G	ENST00000378165.4	-	11	1484	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|NMT2_ENST00000466201.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	468					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTATACCAAACTTGAGTTTTT	0.328000													14	91					0	0	0.000566183	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361225	105361225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:105361225C>T	ENST00000297581.2	+	2	494	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.Q149*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	149					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGAGGCAATTCAGTGGATTTA	0.418000													14	84					0	0	0.00244969	0	0
CSMD3	114788	broad.mit.edu	37	8	113988168	113988168	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:113988168C>A	ENST00000297405.5	-	7	1484	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGAGAGCCCGTCCTTGGAC	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	117					6.33239e-15	2.53707e-14	0.00152264	1	0
NKX2-4	644524	broad.mit.edu	37	20	21377938	21377938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:21377938C>T	ENST00000351817.4	-	1	728	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ccgggtggcgcgccgTCCATG	0.731000													4	7					0	0	0.00024832	0	0
AGBL5	60509	broad.mit.edu	37	2	27278036	27278036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:27278036C>T	ENST00000360131.4	+	6	982	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	275					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)					ACCTGATGATCCCCGGGCCCA	0.537000													29	189					0	0	0.001512	0	0
FAM47B	170062	broad.mit.edu	37	X	34961338	34961338	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:34961338C>T	ENST00000329357.5	+	1	426	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	130										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGCATCCCTTGGCCATGT	0.557000													40	22					0	0	0.00148497	0	0
GPR98	84059	broad.mit.edu	37	5	90041015	90041015	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr5:90041015C>G	ENST00000405460.2	+	51	10798	c.10702C>G	c.(10702-10704)Cta>Gta	p.L3568V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3568					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAATAGCTCTAGTGGGAGC	0.368000													40	134					0	0	0.00170553	0	0
PDHA2	5161	broad.mit.edu	37	4	96761919	96761919	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr4:96761919C>T	ENST00000295266.4	+	1	681	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	206					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGAAGCTTTCAATATGGCAG	0.443000													14	49					0	0	0.00244969	0	0
OR5F1	338674	broad.mit.edu	37	11	55761646	55761646	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:55761646C>A	ENST00000278409.1	-	1	455	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTTCAGCAACCCTGCAGCAA	0.507000													11	60					9.70103e-10	3.78831e-09	0.000673444	1	0
COL4A2	1284	broad.mit.edu	37	13	111102707	111102707	+	Silent	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:111102707C>G	ENST00000360467.5	+	20	1551	c.1245C>G	c.(1243-1245)ccC>ccG	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637000													3	81					0	0	6.4e-05	0	0
SETDB1	9869	broad.mit.edu	37	1	150934615	150934615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:150934615G>A	ENST00000271640.5	+	17	3329	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1047	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACACTGACGACCGAAACAA	0.438000													73	177					0	0	0.000781405	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	45					0	0	6.4e-05	0	0
PAPPA	5069	broad.mit.edu	37	9	118997917	118997917	+	Splice_Site	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr9:118997917G>T	ENST00000328252.3	+	7	3101		c.e7+1		PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCGTAGACATGTAAGTGCATT	0.507000													42	103					5.2432e-18	2.12833e-17	0.000781405	1	0
NID2	22795	broad.mit.edu	37	14	52520462	52520462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr14:52520462G>T	ENST00000216286.5	-	5	1263	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	NID2_ENST00000541773.1_Missense_Mutation_p.P369T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	422						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGGTAGGGCTGGATGCTT	0.552000													23	59					1.10513e-12	4.39914e-12	0.00229938	1	0
CNGA1	1259	broad.mit.edu	37	4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr4:47939078C>T	ENST00000402813.3	-	10	1782	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	CNGA1_ENST00000514170.1_Missense_Mutation_p.R478H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	478					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCAAAAATGCGTACCTTTTT	0.378000													22	92					0	0	0.00188189	0	0
PYGO1	26108	broad.mit.edu	37	15	55838317	55838317	+	Silent	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr15:55838317T>A	ENST00000302000.6	-	3	1258	c.1164A>T	c.(1162-1164)gcA>gcT	p.A388A	PYGO1_ENST00000563719.1_Silent_p.A388A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	388					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGCCCCATACTGCAGATGCTT	0.448000													25	60					0	0	0.00278032	0	0
SMG1	23049	broad.mit.edu	37	16	18875116	18875116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr16:18875116T>C	ENST00000446231.2	-	25	3963	c.3551A>G	c.(3550-3552)aAt>aGt	p.N1184S	SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1184	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCTAAATAATTTATAACCTC	0.403000													13	36					0	0	0.00074312	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143094	21143094	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr20:21143094G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AGAATACTGTGAATCTGAAAA	0.468000													8	20					0	0	0.000157383	0	0
SACS	26278	broad.mit.edu	37	13	23910945	23910945	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:23910945T>A	ENST00000382298.3	-	10	7658	c.7070A>T	c.(7069-7071)gAa>gTa	p.E2357V	SACS_ENST00000402364.1_Missense_Mutation_p.E1607V|SACS_ENST00000382292.3_Missense_Mutation_p.E2357V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2357					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAAACCTTTTCTGAGTCAAC	0.333000													25	50					0	0	0.000720815	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723492	58723492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:58723492C>G	ENST00000300079.5	+	7	1044	c.994C>G	c.(994-996)Cca>Gca	p.P332A	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P301A|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418000													3	86					0	0	0.000602214	0	0
WDR53	348793	broad.mit.edu	37	3	196281606	196281606	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr3:196281606T>C	ENST00000332629.5	-	4	1120	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	185										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGGCCTTCCATTTCTTCTGTT	0.438000													80	288					0	0	0.000781405	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148997	45148997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr13:45148997G>A	ENST00000458659.2	-	1	1704	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	405					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTGAACCTCGAAGTGTTAAC	0.438000													25	83					0	0	0.000720815	0	0
OR1A2	26189	broad.mit.edu	37	17	3101177	3101177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:3101177G>A	ENST00000381951.1	+	1	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GCATACGATCGAGCTGTGGCC	0.483000													32	60					0	0	0.00209593	0	0
OR6C1	390321	broad.mit.edu	37	12	55714812	55714812	+	Silent	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:55714812T>G	ENST00000379668.2	+	1	467	c.429T>G	c.(427-429)gtT>gtG	p.V143V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CACTGCTTGTTTTTACTTCTT	0.408000													6	22					0	0	0.00116845	0	0
BEND5	79656	broad.mit.edu	37	1	49202034	49202034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:49202034C>T	ENST00000371833.3	-	5	1071	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	329	BEN.									large_intestine(5)|lung(2)|skin(1)	8						ATCATAACTGCCAAGTTCTTC	0.483000													30	144					0	0	0.00283554	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260222	19260222	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:19260222C>G	ENST00000602424.2	-	5	797	c.71G>C	c.(70-72)cGg>cCg	p.R24P	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCCGAACTTCCGCTTGGTGAA	0.562000													16	54					0	0	0.00074312	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142746	5142746	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr11:5142746G>A	ENST00000498233.1	-	0	652																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAACCGGGGATCCCAATAA	0.418000													24	119					0	0	0.000878237	0	0
SCAF11	9169	broad.mit.edu	37	12	46315837	46315837	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:46315837T>C	ENST00000465950.1	-	5	4650	c.3441A>G	c.(3439-3441)atA>atG	p.I1147M	SCAF11_ENST00000369367.3_Missense_Mutation_p.I1462M|SCAF11_ENST00000419565.2_Missense_Mutation_p.I1462M|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1270M|SCAF11_ENST00000550629.1_Intron			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1462					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTTCAGCCTATGTTTTTTT	0.378000													3	148					0	0	6.4e-05	0	0
DNM1L	10059	broad.mit.edu	37	12	32886735	32886735	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:32886735T>C	ENST00000452533.2	+	13	1697	c.1533T>C	c.(1531-1533)aaT>aaC	p.N511N	DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000549701.1_Silent_p.N511N|DNM1L_ENST00000553257.1_Silent_p.N524N|DNM1L_ENST00000266481.6_Silent_p.N511N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.N524N	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	511	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAACAATAATATAGAGGTAA	0.303000													53	148					0	0	0.000781405	0	0
ZNF43	7594	broad.mit.edu	37	19	21990434	21990434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr19:21990434G>A	ENST00000594012.1	-	7	2901	c.2387C>T	c.(2386-2388)cCt>cTt	p.P796L	ZNF43_ENST00000354959.4_Missense_Mutation_p.P802L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGTTTGAGGTGTTGTCAA	0.313000													9	43					0	0	0.000274275	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	58					0	0	6.4e-05	0	0
SYTL1	84958	broad.mit.edu	37	1	27677312	27677312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:27677312G>T	ENST00000543823.1	+	10	1495	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	345	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCTTCAGGGCCGCGTGCT	0.642000													20	24					2.70639e-06	1.04365e-05	0.00229938	1	0
CDCA2	157313	broad.mit.edu	37	8	25365207	25365207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:25365207C>G	ENST00000330560.3	+	15	3502	c.3025C>G	c.(3025-3027)Ctg>Gtg	p.L1009V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1009					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAGAGCTCTCTGACTGCCTT	0.433000													15	99					0	0	0.000566183	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	62					0	0	6.4e-05	0	0
GBP7	388646	broad.mit.edu	37	1	89616146	89616146	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:89616146T>A	ENST00000294671.2	-	6	876	c.738A>T	c.(736-738)ttA>ttT	p.L246F		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	246						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAACATGGAGTAAGAGTTTTT	0.383000													22	49					0	0	0.00229938	0	0
STEAP4	79689	broad.mit.edu	37	7	87913172	87913172	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:87913172G>C	ENST00000380079.4	-	2	514	c.413C>G	c.(412-414)tCa>tGa	p.S138*	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	138					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCCCAGGCTGAGATGGTGTT	0.418000													404	101					0	0	0.000781405	0	0
CDH19	28513	broad.mit.edu	37	18	64172067	64172067	+	Silent	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr18:64172067T>A	ENST00000262150.2	-	12	2593	c.2301A>T	c.(2299-2301)gcA>gcT	p.A767A		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGACTGCACTGCAGAACCAA	0.388000													18	19					0	0	0.00188189	0	0
EGFR	1956	broad.mit.edu	37	7	55210124	55210124	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:55210124C>G	ENST00000275493.2	+	2	411	c.234C>G	c.(232-234)ttC>ttG	p.F78L	EGFR_ENST00000455089.1_Missense_Mutation_p.F78L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000344576.2_Missense_Mutation_p.F78L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	78					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATCTTTCCTTCTTAAAGGTTG	0.378000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	1031					0	0	0.000274275	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													5	7					0	0	0.00198382	0	0
FLG	2312	broad.mit.edu	37	1	152286148	152286148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr1:152286148G>C	ENST00000368799.1	-	3	1249	c.1214C>G	c.(1213-1215)gCt>gGt	p.A405G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	405	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGCCCGCG	0.562000									Ichthyosis				140	335					0	0	0.000781405	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234297	37234298	+	In_Frame_Ins	INS	-	-	AACCAG			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:37234297_37234298insAACCAG	ENST00000233099.5	-	29	4767_4768	c.4672_4673insCTGGTT	c.(4672-4674)aca>CTGGTTaca	p.1557_1558insLV	HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insLV	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1557							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGTTTTTGTAAACCAGATATT	0.431													15	110	---	---	---	---					
NRCAM	4897	broad.mit.edu	37	7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T	rs139634064		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:107820812_107820813insT	ENST00000379028.3	-	25	3175_3176	c.2705_2706insA	c.(2704-2706)aatfs	p.N902fs	NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.470													17	124	---	---	---	---					
LRP12	29967	broad.mit.edu	37	8	105521276	105521276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:105521276delG	ENST00000276654.5	-	3	271	c.163delC	c.(163-165)gafs	p.R55fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408													16	103	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119077333	119077338	+	In_Frame_Del	DEL	CGCGAC	CGCGAC	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:119077333_119077338delCGCGAC	ENST00000371410.3	-	1	397_402	c.231_236delGTCGCG	c.(229-237)cgt>cg	p.RSR77del		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	77	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTAGAACGCGACCGCGAGCGTG	0.660													13	9	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37234297	37234298	+	In_Frame_Ins	INS	-	-	AACCAG			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr2:37234297_37234298insAACCAG	ENST00000233099.5	-	29	4767_4768	c.4672_4673insCTGGTT	c.(4672-4674)aca>CTGGTTaca	p.1557_1558insLV	HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insLV	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1557							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGTTTTTGTAAACCAGATATT	0.431													15	110	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	5	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													5	11	---	---	---	---					
NRCAM	4897	broad.mit.edu	37	7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T	rs139634064		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr7:107820812_107820813insT	ENST00000379028.3	-	25	3175_3176	c.2705_2706insA	c.(2704-2706)aatfs	p.N902fs	NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.470													17	124	---	---	---	---					
LRP12	29967	broad.mit.edu	37	8	105521276	105521276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr8:105521276delG	ENST00000276654.5	-	3	271	c.163delC	c.(163-165)gafs	p.R55fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408													16	103	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119077333	119077338	+	In_Frame_Del	DEL	CGCGAC	CGCGAC	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chrX:119077333_119077338delCGCGAC	ENST00000371410.3	-	1	397_402	c.231_236delGTCGCG	c.(229-237)cgt>cg	p.RSR77del		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	77	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTAGAACGCGACCGCGAGCGTG	0.660													13	9	---	---	---	---					
