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
PRAMEF3	401940	broad.mit.edu	37	1	13330559	13330559	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:13330559C>T	ENST00000353410.5	-	2	747	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PRAMEF3_ENST00000376173.3_Missense_Mutation_p.D243N					PRAME family member 3											ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGCCATCGGAGATGAAG	0.473000													27	96					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394108	64394108	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:64394108C>G	ENST00000262043.3	+	4	825	c.485C>G	c.(484-486)tCt>tGt	p.S162C	PHF3_ENST00000509330.1_Missense_Mutation_p.S162C|PHF3_ENST00000393387.1_Missense_Mutation_p.S162C			Q92576	PHF3_HUMAN	PHD finger protein 3	162					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAAAGCATCTGGGAAGACT	0.398000													51	104					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66974535	66974535	+	Silent	SNP	C	C	T	rs142398307		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:66974535C>T	ENST00000317091.4	+	5	1929	c.945C>T	c.(943-945)atC>atT	p.I315I	CES2_ENST00000417689.1_Silent_p.I315I	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	251					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ACGGAGCCATCATGGAGAGTG	0.607000													32	35					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21662884	21662884	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:21662884C>G	ENST00000317571.3	+	6	1059	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	TTC39C_ENST00000304621.6_Missense_Mutation_p.L214V|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	275							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TAGATTAGCTCTGCTCTGGTA	0.413000													12	69					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210586	37210586	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:37210586C>T	ENST00000585696.1	+	3	2097	c.867C>T	c.(865-867)ctC>ctT	p.L289L	ZNF567_ENST00000536254.2_Silent_p.L320L|ZNF567_ENST00000392163.2_Silent_p.L289L|ZNF567_ENST00000588311.1_Silent_p.L289L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.L289L			Q8N184	ZN567_HUMAN	zinc finger protein 567	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTCCGCCTCAAGACAGCCC	0.428000													6	24					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920165	10920165	+	Splice_Site	SNP	C	C	T	rs151206628	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:10920165C>T	ENST00000298232.7	-	18	1403		c.e18-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAGGCTTTCCTACAAAAAAG	0.383000													10	53					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171067	117171067	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:117171067C>G	ENST00000003084.6	+	4	520	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	CFTR_ENST00000454343.1_Missense_Mutation_p.L130V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	130	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTATGCCTTCTCTTTATTGT	0.423000									Cystic Fibrosis				41	64					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676190	203676190	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:203676190G>C	ENST00000357681.5	+	9	2276	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.D385H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D385H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D385H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D373H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	385					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTTGTGATTGACAACTTTGT	0.463000													4	35					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206929	41206929	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:41206929G>A	ENST00000399959.2	+	17	2801	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.G126E|DDX3X_ENST00000457138.2_Missense_Mutation_p.G633E	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	649	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATGGATATGGAGGAAATTAT	0.408000										HNSCC(61;0.18)			14	43					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67190975	67190975	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:67190975C>T	ENST00000445895.2	+	9	1870	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	CARNS1_ENST00000307823.3_Missense_Mutation_p.R463C|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.R560C|CARNS1_ENST00000423745.2_Missense_Mutation_p.R463C			A5YM72	CRNS1_HUMAN	carnosine synthase 1	463	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGTGCGGGCTCGCGGCCTCAA	0.607000													6	5					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704122	40704122	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:40704122G>A	ENST00000372771.4	+	8	3775	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1250					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.E1250K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAAAGGATGAATGTAGTTC	0.393000													7	28					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90784894	90784894	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:90784894G>T	ENST00000220751.4	+	6	1005		c.e6-1		RIPK2_ENST00000540020.1_Splice_Site	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2						activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGTTTTGACAGATGTCACCAA	0.303000													11	29					1.5842e-08	1.66446e-08	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31294558	31294558	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:31294558C>T	ENST00000542188.1	-	27	4709	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K	TRPM1_ENST00000256552.6_Missense_Mutation_p.E1449K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E1427K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1427					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGATCGTTTCATCGGGGAAA	0.433000													23	73					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53555081	53555081	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:53555081G>A	ENST00000025008.5	-	18	4690	c.4167C>T	c.(4165-4167)gtC>gtT	p.V1389V	RB1CC1_ENST00000539297.1_Silent_p.V1389V|RB1CC1_ENST00000435644.2_Silent_p.V1389V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1389					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAACTTACTGACTTCTTCTT	0.408000													10	39					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655073	247655073	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:247655073C>T	ENST00000522351.1	+	0	704							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCCCTCATCCTCATCTCCTA	0.567000													12	68					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128455857	128455857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:128455857G>T	ENST00000297788.4	+	16	3602	c.3235G>T	c.(3235-3237)Gag>Tag	p.E1079*	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1079	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGAAGATCaggaggaaaatga	0.473000													6	7					8.12818e-05	8.2845e-05	1	1	0
SEC24C	9632	broad.mit.edu	37	10	75520579	75520579	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:75520579G>A	ENST00000339365.2	+	7	1121	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SEC24C_ENST00000546025.1_Missense_Mutation_p.R178H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.R178H|SEC24C_ENST00000345254.4_Missense_Mutation_p.R320H|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	320					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCTCCTAAGCGCCTGGACCCT	0.572000													9	42					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063906	3063906	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:3063906C>G	ENST00000445369.2	+	1	1450	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	181					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GGGGGCTCCTCTGCTGCACGT	0.726000													12	26					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139943432	139943432	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:139943432C>T	ENST00000357560.4	-	2	561	c.118G>A	c.(118-120)Gat>Aat	p.D40N	APBB3_ENST00000356738.2_Missense_Mutation_p.D40N|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.D40N|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000358580.5_Missense_Mutation_p.D40N|APBB3_ENST00000412920.3_Missense_Mutation_p.D40N|APBB3_ENST00000354402.5_Missense_Mutation_p.D40N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	40	WW.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGCATCGTGGATCTTC	0.607000													5	16					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7340339	7340339	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:7340339C>T	ENST00000323206.1	+	3	1314	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	TMEM102_ENST00000396568.1_Silent_p.F347F|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	347					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CGGCTTCCTTCTACCTGGTGC	0.711000													3	1					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055097	49055097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:49055097C>A	ENST00000440857.1	-	4	868	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000395462.4_Nonsense_Mutation_p.E56*|DALRD3_ENST00000441576.2_Nonsense_Mutation_p.E223*|DALRD3_ENST00000313778.5_Nonsense_Mutation_p.E56*|DALRD3_ENST00000341949.4_Nonsense_Mutation_p.E223*			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	223					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTGTTCTTCCACCAGCTCC	0.592000													10	25					1.58986e-06	1.64148e-06	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10363598	10363598	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:10363598G>C	ENST00000377093.4	+	21	2508	c.2355G>C	c.(2353-2355)tgG>tgC	p.W785C	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.W785C|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGACTCCTGGAGGGCAGTGG	0.562000													9	35					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49312057G>C	ENST00000266984.5	+	5	836		c.e5-1		RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Splice_Site			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413000													9	46					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923213	150923213	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:150923213G>A	ENST00000271640.5	+	13	2050	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	SETDB1_ENST00000368969.4_Silent_p.K620K|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	620	MBD.				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)			TTAACCGCAAGATGGGCTTTC	0.522000													9	46					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198671606	198671606	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:198671606C>T	ENST00000367376.2	+	6	695	c.524C>T	c.(523-525)tCt>tTt	p.S175F	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S177F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	175					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACCACAGCTCTGCTGCCTTA	0.517000													40	43					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651299	6651299	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:6651299C>T	ENST00000299441.3	-	10	5137	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1576	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTGCAGCCTCGCCCAGATCC	0.711000													3	5					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21294542	21294542	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:21294542G>C	ENST00000256958.2	+	2	130	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	RP11-125O5.2_ENST00000590779.1_3'UTR	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	12					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAAAACAGCAGAGGCACAACC	0.299000													16	41					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6497640	6497640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:6497640G>A	ENST00000228918.4	+	7	1070	c.744G>A	c.(742-744)tgG>tgA	p.W248*	LTBR_ENST00000539925.1_Nonsense_Mutation_p.W229*|LTBR_ENST00000543190.1_3'UTR|LTBR_ENST00000541102.1_Intron	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	248					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCTGCATCTGGAAGAGCCACC	0.577000													7	31					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123369	135123369	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:135123369G>A	ENST00000359035.3	+	3	320	c.317G>A	c.(316-318)gGa>gAa	p.G106E	ZNF511_ENST00000361518.5_Missense_Mutation_p.G106E|ZNF511_ENST00000368554.4_Missense_Mutation_p.G41E|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACGCTGCACGGAAATGTTTGC	0.622000													7	21					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430062	44430062	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:44430062G>A	ENST00000372622.3	+	6	531	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	155						nucleus		p.E155Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GGCAGAAGAAGAATGTGCCCA	0.532000													6	74					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957425	121957425	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:121957425G>A	ENST00000379692.4	-	4	2227	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	567								p.F567L(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						GTAACTAACAGAACTTTCTAG	0.388000													11	62					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3170156	3170156	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:3170156C>T	ENST00000382192.3	+	7	1700	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R499C	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCGCACCCACCGTGGCGTGCG	0.682000													7	56					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489240	108489240	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:108489240G>C	ENST00000408999.3	+	20	4857	c.4780G>C	c.(4780-4782)Gaa>Caa	p.E1594Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1594Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1594					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAGTGGATCTGAAAGCAAAGT	0.383000													37	195					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89271195	89271195	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:89271195G>C	ENST00000370521.3	+	11	1876	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T	PKN2_ENST00000544045.1_Missense_Mutation_p.R180T|PKN2_ENST00000370505.3_Missense_Mutation_p.R349T|PKN2_ENST00000370513.5_Missense_Mutation_p.R458T|PKN2_ENST00000316005.7_Missense_Mutation_p.R506T	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	506					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACATTTCTCAGAGCTCCTCAA	0.343000													12	26					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161056601	161056601	+	Translation_Start_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:161056601G>C	ENST00000283249.2	-	0	211				ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000409872.1_Intron|ITGB6_ENST00000409967.2_De_novo_Start_OutOfFrame|ITGB6_ENST00000428609.2_De_novo_Start_InFrame	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGCAGACCGATTAAAAAAT	0.378000													7	24					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275095	48275095	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:48275095C>T	ENST00000225964.5	-	9	812	c.694G>A	c.(694-696)Gat>Aat	p.D232N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	232	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATACTTACATCATCTCCATTC	0.493000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						14	56					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354005	45354005	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:45354005C>T	ENST00000359271.2	+	2	580	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	110						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGTTGGCTTCGCCATTTCCC	0.652000													7	44					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268118	65268118	+	RNA	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:65268118G>A	ENST00000534336.1	+	0	2886					NR_002819.2																						ATTTGGTGATGAAGGTAGCAG	0.547000													7	48					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103309469	103309469	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:103309469G>C	ENST00000376052.3	+	25	3071	c.3055G>C	c.(3055-3057)Gat>Cat	p.D1019H	TPP2_ENST00000376065.4_Missense_Mutation_p.D1006H|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1006					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGCAGCAAAGATAAGGAAAA	0.328000													11	43					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826728	50826728	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:50826728G>A	ENST00000376959.2	-	2	1645	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Silent_p.F494F			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	494					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGCCCACCAGAAGCCAATGG	0.612000													12	30					0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159521052	159521052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:159521052G>A	ENST00000456329.3	-	2	639	c.605C>T	c.(604-606)cCt>cTt	p.P202L	PWWP2A_ENST00000523662.1_Missense_Mutation_p.P202L|PWWP2A_ENST00000307063.7_Missense_Mutation_p.P202L	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	202										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTGTCACAGGGATACCATG	0.373000													4	26					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128481983	128481983	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:128481983G>T	ENST00000322313.4	-	11	1278	c.1120C>A	c.(1120-1122)Cac>Aac	p.H374N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	374					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATCCCTTCGTGAGCCATCTCC	0.473000													11	33					5.50884e-06	5.67541e-06	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11890943	11890943	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:11890943C>T	ENST00000357901.4	+	4	406	c.304C>T	c.(304-306)Cca>Tca	p.P102S	ZNF441_ENST00000454339.2_Missense_Mutation_p.P35S	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAGTAGATCCATGGGAAAG	0.428000													27	33					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307653	47307653	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:47307653G>C	ENST00000377065.4	-	5	2155	c.1516C>G	c.(1516-1518)Cac>Gac	p.H506D	ZNF41_ENST00000313116.7_Missense_Mutation_p.H506D|ZNF41_ENST00000397050.2_Missense_Mutation_p.H516D	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	548						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTGTCCTGTGAGTGAAGACC	0.418000													27	116					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33315093	33315093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:33315093G>A	ENST00000374796.2	-	15	8688	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.R2040*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2040	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAAGCAGGTCGAGAAGATCGT	0.468000													17	68					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103770	15103770	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:15103770C>A	ENST00000378217.3	+	5	557	c.370C>A	c.(370-372)Ctt>Att	p.L124I	OLAH_ENST00000378228.3_Missense_Mutation_p.L71I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	71					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.L124I(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGAAGAACCTCTTGAAAATGA	0.428000													17	67					3.41278e-10	3.62965e-10	1	1	0
STAP2	55620	broad.mit.edu	37	19	4333783	4333783	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:4333783C>G	ENST00000600324.1	-	3	272	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	STAP2_ENST00000594605.1_Missense_Mutation_p.E69Q	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	69	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGTTTCTCAAATGCTCCC	0.567000													13	12					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177535	23177535	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:23177535C>T	ENST00000389131.3	-	8	1702	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	445	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACTCGGCCCTCGTAGGGATTG	0.647000													10	20					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46378276	46378276	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:46378276G>A	ENST00000306156.3	+	13	2155	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	610	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CTTTGAGGCCGACAATGAGGA	0.572000													5	17					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540534	56540534	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:56540534G>C	ENST00000323777.3	-	4	1260	c.1151C>G	c.(1150-1152)tCc>tGc	p.S384C		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	384						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTAGGGGAGGAATGCAACTC	0.423000													25	26					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281193	15281193	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:15281193G>C	ENST00000263388.2	-	27	5138	c.5063C>G	c.(5062-5064)tCt>tGt	p.S1688C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1688					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTTGTGACCAGAGGCCACGTC	0.652000													6	20					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123509185	123509185	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:123509185G>C	ENST00000223026.4	+	3	1496	c.858G>C	c.(856-858)atG>atC	p.M286I	HYAL4_ENST00000476325.1_Missense_Mutation_p.M286I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	286					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGAATCCATGAGGATCTCCA	0.423000													30	125					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159709	154159709	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:154159709C>G	ENST00000360256.4	-	14	2556	c.2356G>C	c.(2356-2358)Gag>Cag	p.E786Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	786	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCAGTCTTCTCTATGTCATTT	0.423000													58	60					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133478563	133478563	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:133478563C>T	ENST00000395029.1	+	7	1102	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	TCF7_ENST00000378564.1_Silent_p.L303L|TCF7_ENST00000518915.1_Silent_p.L188L|TCF7_ENST00000342854.5_Silent_p.L303L|TCF7_ENST00000432532.2_Silent_p.L188L|TCF7_ENST00000520958.1_Silent_p.L188L|TCF7_ENST00000378560.4_Silent_p.L188L|TCF7_ENST00000395023.1_Silent_p.L188L|TCF7_ENST00000321603.6_Silent_p.L303L|TCF7_ENST00000321584.4_Silent_p.L303L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	303					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACCAGATCCTGGGCCGCAG	0.592000													15	32					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633983	106633983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:106633983C>A	ENST00000378026.4	-	2	764	c.628G>T	c.(628-630)Gag>Tag	p.E210*	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	210						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTGAGAATCTCATTCTGGAGT	0.562000													9	47					4.68919e-08	4.90514e-08	1	1	0
YME1L1	10730	broad.mit.edu	37	10	27400950	27400950	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:27400950C>G	ENST00000326799.3	-	20	2426	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	YME1L1_ENST00000376016.3_Missense_Mutation_p.E703Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.E670Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	760					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTTGAATCTCTTTGGCATCC	0.378000													15	70					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529333	102529333	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:102529333C>A	ENST00000372680.1	-	3	453	c.159G>T	c.(157-159)aaG>aaT	p.K53N		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	53	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						catcctctcgctttccctcgc	0.527000													14	24					7.93312e-07	8.20846e-07	1	1	0
PLA2R1	22925	broad.mit.edu	37	2	160885451	160885451	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:160885451C>T	ENST00000283243.7	-	5	1071	c.865G>A	c.(865-867)Gag>Aag	p.E289K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E289K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	289	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATCCACACCTCCACTGTTTTA	0.468000													6	16					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350578	15350578	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:15350578C>T	ENST00000263377.2	-	16	3558	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1113					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGATCTTCTCCTCCTTCACC	0.701000			T	C15orf55	lethal midline carcinoma of young people								5	19					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182347245	182347245	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:182347245G>A	ENST00000397033.2	+	9	1338	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	303					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGACAGCTTGGATCGTACTTT	0.473000													22	115					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44175927	44175927	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:44175927C>T	ENST00000417257.1	-	13	1285	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	FRMD5_ENST00000484674.1_Missense_Mutation_p.R276K|FRMD5_ENST00000402883.1_Missense_Mutation_p.R370K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	370						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GTGAACAGCTCTTCTGCGGGT	0.537000													31	26					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079799	31079799	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:31079799C>G	ENST00000259870.3	-	2	340	c.337G>C	c.(337-339)Gag>Cag	p.E113Q		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	113										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAAGGATCCTCAGGGGGCCAG	0.647000													15	11					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044715	35044715	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:35044715G>C	ENST00000312292.5	+	2	2136	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	C9orf131_ENST00000354479.5_Missense_Mutation_p.E624Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E649Q	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	697										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCTCTACCAGAGCCACACAT	0.557000													11	6					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75607805	75607805	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:75607805G>C	ENST00000423381.1	-	9	760	c.637C>G	c.(637-639)Ccc>Gcc	p.P213A	CAMK2G_ENST00000322680.3_Missense_Mutation_p.P213A|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P213A|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P213A|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P213A|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P213A|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P213A	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	213	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCCCAGAAGGGAGGATAGCCC	0.557000													28	56					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136602232	136602232	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:136602232C>G	ENST00000264156.2	-	16	2292	c.2232G>C	c.(2230-2232)aaG>aaC	p.K744N	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	744					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCTCGCTCCTCTTTAATGCTG	0.363000													34	51					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27059213	27059213	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:27059213C>G	ENST00000324856.7	+	4	2221	c.1850C>G	c.(1849-1851)tCa>tGa	p.S617*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S617*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S234*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	617					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S617*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAGCCCCCTCAATGACCTCC	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	58					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233660	113233660	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:113233660C>G	ENST00000401783.2	-	16	3318	c.2982G>C	c.(2980-2982)ctG>ctC	p.L994L	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.L994L|SVEP1_ENST00000374469.1_Silent_p.L971L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	994					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACGCCCTCTCAGCACTGAGC	0.433000													11	11					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122775111	122775111	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:122775111C>G	ENST00000227349.2	+	3	1120	c.823C>G	c.(823-825)Caa>Gaa	p.Q275E	C11orf63_ENST00000307257.6_Missense_Mutation_p.Q275E|C11orf63_ENST00000531316.1_Missense_Mutation_p.Q275E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	275										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTCTTATCTTCAACTTCACAA	0.413000													31	100					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25284636	25284636	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:25284636C>G	ENST00000331161.4	-	3	605	c.386G>C	c.(385-387)aGa>aCa	p.R129T	ENKUR_ENST00000376363.1_Missense_Mutation_p.R129T	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	129						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GTCTCCAGTTCTTTTATCAAC	0.353000													15	67					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798838	113798838	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:113798838C>G	ENST00000281273.4	+	8	1089	c.832C>G	c.(832-834)Caa>Gaa	p.Q278E	QTRTD1_ENST00000485050.1_Missense_Mutation_p.Q290E|QTRTD1_ENST00000493014.1_Missense_Mutation_p.Q172E|QTRTD1_ENST00000479882.1_Missense_Mutation_p.Q155E	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	278					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTTCCCTTATCAAGTAACAGA	0.418000													32	91					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6983226	6983226	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:6983226C>G	ENST00000389658.3	-	40	5761	c.5668G>C	c.(5668-5670)Gaa>Caa	p.E1890Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1890	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATGTTTTCAAGGCCACTA	0.403000													3	27					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68355360	68355360	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:68355360G>A	ENST00000339507.5	+	4	957	c.127G>A	c.(127-129)Gac>Aac	p.D43N	PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.D43N|PRMT7_ENST00000441236.1_Missense_Mutation_p.D43N|PRMT7_ENST00000449359.3_Missense_Mutation_p.D43N			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	43					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		ACATGACAAAGACAGAGTAAG	0.343000													12	51					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148977402	148977402	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:148977402G>A	ENST00000333677.6	+	2	233	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	24					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TAGGGCCTCTGAGGACAGATC	0.582000													15	12					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38643417	38643417	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:38643417G>C	ENST00000254051.6	-	4	1317	c.1159C>G	c.(1159-1161)Cca>Gca	p.P387A		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	387					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGCTGGGGTGGAGAAGACCCT	0.607000													52	46					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551336	99551336	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:99551336A>T	ENST00000373034.4	-	6	5061	c.3386T>A	c.(3385-3387)cTg>cAg	p.L1129Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.L1081Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.L1082Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1129					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCTTCCTTCAGAATGGGGCT	0.507000													9	60					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189743	26189743	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:26189743C>T	ENST00000374296.3	-	2	1254	c.588G>A	c.(586-588)caG>caA	p.Q196Q	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	196					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGGTTTCTGGATGTACT	0.597000													7	20					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030676	10030676	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:10030676G>C	ENST00000378380.3	+	6	1788	c.1459G>C	c.(1459-1461)Gat>Cat	p.D487H	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D487H	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.D487N(1)									TTGGTACATTGATGATTCAGA	0.398000													43	54					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746334	145746334	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145746334C>G	ENST00000292524.1	+	4	1100	c.954C>G	c.(952-954)ttC>ttG	p.F318L	LRRC14_ENST00000529022.1_Missense_Mutation_p.F318L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	318										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGTTGGCCTTCTGTGCTCTGC	0.632000													19	101					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45675298	45675298	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:45675298G>C	ENST00000310806.4	-	15	3686	c.3228C>G	c.(3226-3228)atC>atG	p.I1076M		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1076					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTTTCTTGATGTTGCCCC	0.284000													17	10					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005477	72005477	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:72005477C>T	ENST00000294053.3	-	15	1835	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R	CLPB_ENST00000538039.1_Silent_p.R524R|CLPB_ENST00000543042.1_Silent_p.R353R|CLPB_ENST00000340729.5_Silent_p.R495R|CLPB_ENST00000538021.1_Silent_p.R162R|CLPB_ENST00000437826.2_Silent_p.R509R	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	554					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACTCATCCCTCCGGAAGTGAG	0.542000													7	11					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241973264	241973264	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:241973264C>T	ENST00000310397.8	+	3	614	c.614C>T	c.(613-615)gCc>gTc	p.A205V	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.A205V|SNED1_ENST00000401884.1_Missense_Mutation_p.A205V|SNED1_ENST00000405547.3_Missense_Mutation_p.A205V	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	205	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGGGGCAACGCCACTGGCCTC	0.612000													7	5					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17534853	17534853	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:17534853G>C	ENST00000317040.7	+	7	1734	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	MVB12A_ENST00000392702.2_Missense_Mutation_p.E187Q|MVB12A_ENST00000543795.1_Missense_Mutation_p.E227Q|MVB12A_ENST00000529939.1_Missense_Mutation_p.E227Q|MVB12A_ENST00000528515.1_Missense_Mutation_p.L184F					multivesicular body subunit 12A																		CCCACGATTTGAGGGCAAGAG	0.617000													9	15					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101085424	101085424	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:101085424T>C	ENST00000394095.2	-	9	1221	c.1168A>G	c.(1168-1170)Acc>Gcc	p.T390A	SENP7_ENST00000314261.7_Missense_Mutation_p.T324A|SENP7_ENST00000394091.1_Missense_Mutation_p.T226A|SENP7_ENST00000348610.3_Missense_Mutation_p.T357A|SENP7_ENST00000394094.2_Missense_Mutation_p.T325A|SENP7_ENST00000358203.3_Missense_Mutation_p.T226A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	390					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTCAGTGGTTGAACCGGCA	0.393000													28	53					0	0	1	0	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290498	155290498	+	RNA	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:155290498C>G	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA			Q66K80	RUAS1_HUMAN																			GAGTCTGGCTCTTTCCAGAAT	0.547000													7	6					0	0	1	0	0
COA1	55744	broad.mit.edu	37	7	43679231	43679231	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:43679231G>A	ENST00000395879.1	-	5	2072	c.391C>T	c.(391-393)Cct>Tct	p.P131S	COA1_ENST00000488813.1_5'UTR|COA1_ENST00000310564.6_Missense_Mutation_p.P131S|COA1_ENST00000395880.3_Missense_Mutation_p.P131S|COA1_ENST00000223336.6_Missense_Mutation_p.P131S					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TTGAACACAGGAATCTGCTGA	0.473000													26	68					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262129	45262129	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:45262129A>T	ENST00000303230.4	-	8	2624	c.2567T>A	c.(2566-2568)gTc>gAc	p.V856D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	856						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCTGGAGGGACTCCTCGGTT	0.607000													8	77					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211449	64211449	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:64211449C>G	ENST00000262150.2	-	7	1265	c.973G>C	c.(973-975)Gag>Cag	p.E325Q	CDH19_ENST00000540086.1_Missense_Mutation_p.E325Q	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	325	Cadherin 3.				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)				TTCTGGTGCTCAAAATCCACT	0.363000													4	16					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273847	100273847	+	RNA	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:100273847C>G	ENST00000515683.1	-	0	337				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATTCTGTCTTCTCTGCAGACC	0.343000													12	35					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916872	89916872	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:89916872G>C	ENST00000548729.1	-	3	1748	c.1446C>G	c.(1444-1446)ttC>ttG	p.F482L	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.F313L|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.F485L|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TATATTCAAAGAATTGATTGC	0.378000													3	12					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179729472	179729472	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:179729472A>G	ENST00000253778.8	-	18	2124	c.1955T>C	c.(1954-1956)aTt>aCt	p.I652T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	652	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGCAGCGGAATCACGCTCAG	0.522000													5	32					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68145142	68145142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:68145142G>A	ENST00000262215.3	-	23	3717	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q564*|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1110					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGGATTCCTGAATACTTGCT	0.338000													9	50					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15727550	15727550	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:15727550C>G	ENST00000396368.3	-	5	1363	c.1157G>C	c.(1156-1158)aGa>aCa	p.R386T	KIAA0430_ENST00000540441.2_Missense_Mutation_p.R386T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R383T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R208T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R383T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R386T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	385						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCTGCTTCTCTGTGGCCTTT	0.368000													28	76					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40756213	40756213	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:40756213G>A	ENST00000561234.1	+	4	2225	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	BAHD1_ENST00000416165.1_Missense_Mutation_p.E657K|BAHD1_ENST00000560846.1_Missense_Mutation_p.E657K			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	657	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGAGAACCCCGAGTCAGGTAC	0.602000													7	7					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91844062	91844062	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:91844062G>C	ENST00000394507.1	-	16	2376	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	KRIT1_ENST00000394503.2_Silent_p.L483L|KRIT1_ENST00000394505.2_Silent_p.L531L|KRIT1_ENST00000340022.2_Silent_p.L531L|KRIT1_ENST00000412043.2_Silent_p.L531L	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	531	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCATCAAAGAGAATAAGAA	0.323000													20	34					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55819051	55819051	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:55819051G>T	ENST00000313833.4	+	2	2188	c.1943G>T	c.(1942-1944)cGa>cTa	p.R648L	FBXO34_ENST00000440021.1_Missense_Mutation_p.R648L	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	648										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCCCTGTGCCGATGGCACCCC	0.552000													32	15					2.08457e-15	2.23698e-15	1	1	0
KRT16	3868	broad.mit.edu	37	17	39768437	39768437	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:39768437G>C	ENST00000301653.4	-	1	568	c.504C>G	c.(502-504)ttC>ttG	p.F168L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	168	Linker 1.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CGATGGTCTTGAAGTAGGGAC	0.562000													43	36					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601550	234601550	+	Translation_Start_Site	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:234601550C>A	ENST00000305139.6	+	0	39				UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTAGACAGGACCTGTGAAAAG	0.368000											OREG0003836	type=REGULATORY REGION|Gene=UGT1A6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	11					0.115264	0.115506	1	1	0
TECTA	7007	broad.mit.edu	37	11	121061418	121061418	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:121061418C>G	ENST00000392793.1	+	24	6642	c.6371C>G	c.(6370-6372)tCt>tGt	p.S2124C	TECTA_ENST00000264037.2_Missense_Mutation_p.S2124C			O75443	TECTA_HUMAN	tectorin alpha	2124					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTACAGCCTCTAATTCTTCA	0.403000													8	38					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34842620	34842620	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:34842620G>C	ENST00000225410.4	+	1	142	c.77G>C	c.(76-78)cGc>cCc	p.R26P	ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R26P	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	26					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CCAGCCTGCCGCGTGCCCTAG	0.687000													17	60					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113873356	113873356	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:113873356C>T	ENST00000403593.4	+	6	928	c.666C>T	c.(664-666)atC>atT	p.I222I	SDSL_ENST00000345635.4_Silent_p.I222I			Q96GA7	SDSL_HUMAN	serine dehydratase-like	222					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TTCCAGACATCACCAGGTGGG	0.627000													9	45					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597133	74597133	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:74597133C>T	ENST00000361874.3	-	13	1668	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	DCTN1_ENST00000409868.1_Missense_Mutation_p.E434K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E444K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E317K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E431K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E317K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E414K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	451					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACTTTCTCTTCCAGATTCAGG	0.532000													8	75					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722535	150722535	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:150722535C>T	ENST00000335244.4	-	4	483	c.354G>A	c.(352-354)aaG>aaA	p.K118K	SLC36A2_ENST00000521967.1_Silent_p.K118K	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	118					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATAAAGGGCTTGTTAAGCC	0.502000													7	38					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150459962	150459962	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:150459962C>T	ENST00000312960.3	-	2	1468	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	314	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AACATTGATTCCAAGGTTCCC	0.398000													16	49					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360678	16360678	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:16360678T>C	ENST00000354981.2	-	19	2126	c.1969A>G	c.(1969-1971)Agc>Ggc	p.S657G	KIF16B_ENST00000408042.1_Missense_Mutation_p.S657G|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.S657G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	657	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGTTTGAGGCTCTCCTCCTGC	0.522000													17	96					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109098889	109098889	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:109098889G>C	ENST00000309863.6	+	11	4041	c.3327G>C	c.(3325-3327)caG>caC	p.Q1109H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1109					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAAACTTCAGAAAGAACAGA	0.303000													16	27					0	0	1	0	0
HDGF	3068	broad.mit.edu	37	1	156714024	156714024	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:156714024G>A	ENST00000357325.5	-	4	734	c.420C>T	c.(418-420)gtC>gtT	p.V140V	HDGF_ENST00000416666.2_Silent_p.V108V|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Silent_p.V156V|HDGF_ENST00000368209.5_Silent_p.V133V|HDGF_ENST00000537739.1_Silent_p.V140V	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	140	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GCTCATCAATGACCAGCTTCC	0.602000													106	112					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	624873	624873	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:624873G>C	ENST00000581619.1	+	4	1186	c.339G>C	c.(337-339)ctG>ctC	p.L113L	CLUL1_ENST00000400606.2_Silent_p.L88L|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000579494.1_Silent_p.L88L|CLUL1_ENST00000540035.1_Silent_p.L140L|CLUL1_ENST00000338387.7_Silent_p.L88L			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	88					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGGAGGCCCTGAAACTTCTGA	0.403000													11	46					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072595	197072595	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:197072595T>G	ENST00000367409.4	-	18	6042	c.5786A>C	c.(5785-5787)cAa>cCa	p.Q1929P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1929					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTGAAATTTTGCTGGATGAC	0.428000													30	133					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47073984	47073984	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:47073984C>T	ENST00000395460.2	+	3	233	c.195C>T	c.(193-195)ttC>ttT	p.F65F	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378615.3_Silent_p.F65F|C11orf49_ENST00000278460.7_Silent_p.F65F|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378618.2_Silent_p.F65F	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	65										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TTCGAGAATTCAGCTTCGTCC	0.453000													15	57					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86697424	86697424	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:86697424C>T	ENST00000409556.1	+	12	1982	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	KDM3A_ENST00000542128.1_Silent_p.I487I|KDM3A_ENST00000312912.5_Silent_p.I539I|KDM3A_ENST00000409064.1_Silent_p.I539I|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	539					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTGAACATCGTGGCACAGT	0.507000													21	48					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692233	13692233	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:13692233G>C	ENST00000265104.4	-	79	13839	c.13735C>G	c.(13735-13737)Cct>Gct	p.P4579A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4579					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAAACCGAGGATCTCGTAAA	0.458000									Kartagener syndrome				19	65					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522552	49522552	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49522552A>G	ENST00000336023.5	-	4	639	c.545T>C	c.(544-546)gTt>gCt	p.V182A	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GTAGGGCTCAACTACAGCTGT	0.512000													16	57					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38699938	38699938	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:38699938G>A	ENST00000379931.3	+	11	2509	c.2130G>A	c.(2128-2130)ctG>ctA	p.L710L	TACC1_ENST00000520615.1_Silent_p.L503L|TACC1_ENST00000317827.4_Silent_p.L698L|TACC1_ENST00000520973.1_Silent_p.L474L|TACC1_ENST00000348567.4_Silent_p.L260L|TACC1_ENST00000519416.1_Silent_p.L502L|TACC1_ENST00000330691.6_Silent_p.L272L|TACC1_ENST00000518415.1_Silent_p.L624L|TACC1_ENST00000443286.2_Silent_p.L685L|TACC1_ENST00000520611.1_Silent_p.L135L|TACC1_ENST00000276520.8_Silent_p.L288L			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	698	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATGAGAACCTGAAAGGTGTTC	0.458000													11	145					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770003	31770003	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:31770003G>A	ENST00000240587.4	-	2	1023	c.696C>T	c.(694-696)caC>caT	p.H232H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	232					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTCGTTCATGTGCACCGTCA	0.582000													27	94					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383784	33383784	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:33383784G>A	ENST00000374516.3	+	15	1884	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	538					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TACCTGTCCCGAGGGGACCCT	0.632000													40	35					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290800	58290800	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:58290800G>C	ENST00000391702.3	+	4	1083	c.716G>C	c.(715-717)aGa>aCa	p.R239T	ZNF586_ENST00000396154.2_Missense_Mutation_p.R282T|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCATCAGAGAGTTCACACT	0.428000													9	29					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64020261	64020261	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:64020261G>A	ENST00000324472.4	-	7	1032	c.849C>T	c.(847-849)ttC>ttT	p.F283F	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	283					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCCATGGTTGAAAAAGAAGC	0.303000													4	12					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5145496	5145496	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:5145496C>G	ENST00000427587.4	-	2	184	c.116G>C	c.(115-117)aGa>aCa	p.R39T	FAM86A_ENST00000458008.4_Missense_Mutation_p.R39T|FAM86A_ENST00000587133.1_Missense_Mutation_p.R39T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	39										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGATGAGTCTCTTAACTTTGC	0.478000													24	79					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36367140	36367140	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:36367140G>C	ENST00000373204.4	+	9	1299	c.1086G>C	c.(1084-1086)atG>atC	p.M362I	AGO1_ENST00000373206.1_Missense_Mutation_p.M287I	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CCTCGACCATGATAAAGGCCA	0.532000													9	68					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475484	29475484	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:29475484C>G	ENST00000373795.4	-	6	1157	c.923G>C	c.(922-924)aGa>aCa	p.R308T	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	308	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ctcctccactctcctctcctg	0.582000													20	69					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90775058	90775058	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:90775058G>A	ENST00000220751.4	+	2	489	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RIPK2_ENST00000540020.1_Intron	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	59	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TTTTCTTAGTGAAAGAAAGGA	0.279000													9	37					0	0	1	0	0
MANF	7873	broad.mit.edu	37	3	51423655	51423655	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:51423655G>C	ENST00000528157.1	+	2	407	c.111G>C	c.(109-111)ctG>ctC	p.L37L	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	37					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						TTTCTTATCTGGGAAGATTTT	0.438000													11	9					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161807842	161807842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:161807842G>T	ENST00000366898.1	-	10	1253	c.1151C>A	c.(1150-1152)tCa>tAa	p.S384*	PARK2_ENST00000338468.3_Nonsense_Mutation_p.S193*|PARK2_ENST00000366894.1_Nonsense_Mutation_p.S193*|PARK2_ENST00000366896.1_Nonsense_Mutation_p.S235*|PARK2_ENST00000366897.1_Nonsense_Mutation_p.S356*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	384					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGTTGTTCCTGAGGCTTCAAA	0.512000													13	31					4.93089e-13	5.27362e-13	1	1	0
RTTN	25914	broad.mit.edu	37	18	67872466	67872466	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:67872466G>A	ENST00000255674.6	-	2	403	c.117C>T	c.(115-117)ctC>ctT	p.L39L	RTTN_ENST00000437017.1_Silent_p.L39L|RTTN_ENST00000454359.1_Silent_p.L39L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	39							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTCCTGAATGAGATCAGCGT	0.478000													30	96					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31383468	31383468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:31383468C>T	ENST00000375623.4	+	9	1022	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	DNMT3B_ENST00000348286.2_Missense_Mutation_p.S402L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S402L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S402L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S414L|DNMT3B_ENST00000328111.2_Missense_Mutation_p.S422L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S360L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S326L			Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	190					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAATGGCTTCAGATGTTGCC	0.537000													19	12					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980660	44980660	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:44980660G>C	ENST00000221327.4	-	5	2319	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q653E|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q655E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAGTTGCCTGATGCCTAATA	0.308000													7	29					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7216442	7216442	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:7216442G>A	ENST00000380728.2	-	10	1106	c.806C>T	c.(805-807)tCc>tTc	p.S269F	GPS2_ENST00000389167.5_Splice_Site_p.S269F|GPS2_ENST00000391950.3_Splice_Site_p.S269F|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	269					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCGCAGAGAGGACTGCAGAGA	0.587000													46	39					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766183	46766183	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:46766183G>C	ENST00000394809.4	-	4	1514	c.1399C>G	c.(1399-1401)Ccg>Gcg	p.P467A	MYLK3_ENST00000536476.1_Missense_Mutation_p.P126A	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	467					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTCTCACCGGAGCCCTGGCT	0.657000													5	10					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218762620	218762620	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:218762620G>C	ENST00000171887.4	-	6	521	c.69C>G	c.(67-69)atC>atG	p.I23M	TNS1_ENST00000310858.6_Missense_Mutation_p.I54M|TNS1_ENST00000430930.1_Missense_Mutation_p.I23M|TNS1_ENST00000419504.1_Missense_Mutation_p.I23M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	23	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGAGACAGCGATGATCCTCT	0.582000													8	15					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148847	170148847	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:170148847G>A	ENST00000328939.4	+	4	804	c.267G>A	c.(265-267)acG>acA	p.T89T	KCNIP1_ENST00000390656.4_Silent_p.T89T|KCNIP1_ENST00000434108.1_Silent_p.T114T|KCNIP1_ENST00000377360.4_Silent_p.T98T|KCNIP1_ENST00000411494.1_Silent_p.T100T|KCNIP1_ENST00000520740.1_Silent_p.T61T	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	100	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCCAGCACGTATGCCCATT	0.547000													3	43					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49815967	49815967	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:49815967A>T	ENST00000335847.4	-	4	342	c.241T>A	c.(241-243)Tat>Aat	p.Y81N	CRISP1_ENST00000329411.5_Missense_Mutation_p.Y81N|CRISP1_ENST00000355791.2_Missense_Mutation_p.Y81N|CRISP1_ENST00000505118.1_Missense_Mutation_p.Y81N|CRISP1_ENST00000507853.1_Missense_Mutation_p.Y81N|CRISP1_ENST00000536021.1_Missense_Mutation_p.Y81N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	81					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATATCACAATACTTTGAAAAA	0.348000													18	84					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791919	209791919	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:209791919C>T	ENST00000391911.1	-	18	3176	c.2787G>A	c.(2785-2787)ctG>ctA	p.L929L	LAMB3_ENST00000356082.4_Silent_p.L929L|LAMB3_ENST00000367030.3_Silent_p.L929L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	929	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCATCTTCTGCAGAACAGTAG	0.612000													4	23					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529347	102529347	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:102529347C>T	ENST00000372680.1	-	3	439	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	49	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ccctcgcattctgtcttcccc	0.512000													13	21					0	0	1	0	0
NME5	8382	broad.mit.edu	37	5	137451415	137451415	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:137451415G>C	ENST00000265191.2	-	6	643	c.594C>G	c.(592-594)aaC>aaG	p.N198K		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	198					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTTGGGTTTGTTAGGATTAT	0.299000													13	24					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26086240	26086240	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:26086240C>T	ENST00000324198.6	+	12	1234	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AAAGAAGCCTCATGCGAGTGT	0.448000													9	40					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100707206	100707206	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:100707206C>G	ENST00000360820.2	+	7	1296	c.859C>G	c.(859-861)Cgt>Ggt	p.R287G		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	287	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATAGTTGAGTCGTTTAGGATC	0.284000													6	63					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114191917	114191917	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:114191917C>T	ENST00000369615.1	+	13	2276	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	MAGI3_ENST00000369617.4_Silent_p.F763F|MAGI3_ENST00000307546.9_Silent_p.F738F|MAGI3_ENST00000369611.4_Silent_p.F738F	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	763					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTTGGCTTCAGGGTGCTAG	0.393000													29	42					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939948	169939948	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:169939948C>T	ENST00000327239.4	+	6	1927	c.423C>T	c.(421-423)ctC>ctT	p.L141L	DHRS9_ENST00000602501.1_Silent_p.L141L|DHRS9_ENST00000412271.1_Silent_p.L141L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000432060.2_Silent_p.L201L|DHRS9_ENST00000357546.2_Silent_p.L141L|DHRS9_ENST00000428522.1_Silent_p.L141L|DHRS9_ENST00000436483.2_Silent_p.L141L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	141					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.L141L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGTTTGGACTCATCAGTGTGA	0.488000													16	45					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119050518	119050518	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:119050518G>C	ENST00000409109.1	+	7	2375	c.1788G>C	c.(1786-1788)caG>caC	p.Q596H	NLRX1_ENST00000525863.1_Missense_Mutation_p.Q596H|NLRX1_ENST00000292199.2_Missense_Mutation_p.Q596H|NLRX1_ENST00000409991.1_Missense_Mutation_p.Q596H|NLRX1_ENST00000409265.4_Missense_Mutation_p.Q596H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	596	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCTGGACCAGATGGGCGCCA	0.622000													24	47					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746144	27746144	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:27746144C>G	ENST00000264717.2	+	19	1779	c.1716C>G	c.(1714-1716)ccC>ccG	p.P572P	GCKR_ENST00000424318.2_Silent_p.P382P	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	572					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGTGATACCCATCGCCTTGC	0.602000													5	7					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360604	40360604	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:40360604G>C	ENST00000338305.6	-	3	1990	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	483	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGTCCCTGACACCAGGTT	0.597000													5	12					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13223669	13223669	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:13223669G>C	ENST00000319217.7	-	5	681	c.434C>G	c.(433-435)tCt>tGt	p.S145C	MPDZ_ENST00000546205.1_Missense_Mutation_p.S145C|MPDZ_ENST00000381015.4_Missense_Mutation_p.S145C|MPDZ_ENST00000447879.1_Missense_Mutation_p.S145C|MPDZ_ENST00000381022.2_Missense_Mutation_p.S145C|MPDZ_ENST00000541718.1_Missense_Mutation_p.S145C|MPDZ_ENST00000536827.1_Missense_Mutation_p.S145C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	145	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAGGCCTCCAGATGGAGGTTT	0.463000													3	9					0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231114988	231114988	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:231114988G>A	ENST00000310256.2	+	1	194	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ARV1_ENST00000366658.2_Missense_Mutation_p.R46Q|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	46					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		GAGTTGTACCGAGACTATAAC	0.577000													7	38					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972890	235972890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:235972890G>A	ENST00000389794.3	-	5	1402	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q410*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q410*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	410					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCAGAATCTGAAGAACTCCT	0.388000													39	47					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760439	89760439	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:89760439C>T	ENST00000268125.5	-	5	697	c.258G>A	c.(256-258)gaG>gaA	p.E86E		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	86					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTTGCACCCTCTCCGCCACGG	0.667000													9	13					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41740631	41740631	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:41740631C>T	ENST00000373018.3	-	5	571	c.320G>A	c.(319-321)tGc>tAc	p.C107Y	FRS3_ENST00000259748.2_Missense_Mutation_p.C107Y	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	107	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATGCTGTTGCACTGCATCAG	0.527000													13	35					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010829	40010829	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:40010829C>G	ENST00000319121.3	-	2	1350	c.1290G>C	c.(1288-1290)ttG>ttC	p.L430F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	430						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CCCATGTATTCAAATTTGGGT	0.413000													62	44					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35609203	35609203	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:35609203G>A	ENST00000336395.5	+	10	1595	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	449					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGCCGTATGGAGACAGCACT	0.701000													26	28					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195497090	195497090	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:195497090G>A	ENST00000463781.3	-	6	13854	c.13395C>T	c.(13393-13395)ctC>ctT	p.L4465L	MUC4_ENST00000349607.4_Silent_p.L178L|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000346145.4_Silent_p.L229L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1222					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTCACCCCGAGGGTCCACT	0.577000													7	12					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70844560	70844560	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:70844560C>G	ENST00000358731.4	+	33	7059	c.6796C>G	c.(6796-6798)Caa>Gaa	p.Q2266E	BDP1_ENST00000380675.2_Missense_Mutation_p.Q402E	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2266					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATCAATCCTCAAGACCTAAC	0.318000													63	75					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220327382	220327382	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:220327382G>C	ENST00000358951.2	-	32	3689	c.3573C>G	c.(3571-3573)ttC>ttG	p.F1191L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1191					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTAGGTCTTTGAAAAATGCAT	0.318000													7	61					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705063	56705063	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:56705063C>T	ENST00000273308.4	-	4	880	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.E114K|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	114	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TCACTGGATTCTCCATTCCGG	0.522000													23	119					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110527764	110527764	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:110527764C>T	ENST00000369799.5	+	1	457	c.90C>T	c.(88-90)ttC>ttT	p.F30F	AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	30					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AGTACTCCTTCATGGCCACCG	0.716000													5	8					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55544257	55544257	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:55544257C>T	ENST00000294383.6	-	61	7267	c.7268G>A	c.(7267-7269)tGt>tAt	p.C2423Y	USP24_ENST00000407756.1_Missense_Mutation_p.C2263Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2423					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATTACAGAAACAGCAGTACAC	0.438000													4	7					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745102	23745102	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:23745102C>G	ENST00000357460.5	-	2	1499	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	HOMEZ_ENST00000561013.1_Missense_Mutation_p.L447F|HOMEZ_ENST00000431326.2_Missense_Mutation_p.L447F	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	445	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCTTTCGTTCAAGGAGCGGG	0.567000													11	10					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43492828	43492828	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:43492828C>G	ENST00000306862.2	-	9	1854	c.1479G>C	c.(1477-1479)aaG>aaC	p.K493N	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	493										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CCACCTGTCTCTTCTCAATAG	0.348000													20	94					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232217	125232217	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:125232217C>T	ENST00000439075.1	-	0	2528					NR_026876.1																						AATCTAATATCATTTGCAGTT	0.338000													10	11					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33318947	33318947	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:33318947C>T	ENST00000379540.3	+	9	1790	c.1728C>T	c.(1726-1728)tgC>tgT	p.C576C	NFX1_ENST00000379521.4_Silent_p.C576C|NFX1_ENST00000318524.6_Silent_p.C576C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	576					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CGCAAGTGTGCCACCCTCAGC	0.493000													3	22					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263468	75263468	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:75263468C>T	ENST00000546196.1	-	7	4119	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	BCAR1_ENST00000162330.5_Missense_Mutation_p.E852K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E852K|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.E850K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E870K|BCAR1_ENST00000393420.6_Missense_Mutation_p.E870K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E704K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E898K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E870K			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	852					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGCCCAGCTCCTTGACCCTC	0.711000													3	4					0	0	1	0	0
TAF11	6882	broad.mit.edu	37	6	34846481	34846481	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:34846481C>G	ENST00000361288.4	-	5	653	c.522G>C	c.(520-522)gaG>gaC	p.E174D	TAF11_ENST00000420584.2_Missense_Mutation_p.R142T|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	174					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						CTCCCCACTTCTCACACACAT	0.393000													7	57					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59111980	59111980	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:59111980C>A	ENST00000335867.4	+	4	663	c.639C>A	c.(637-639)ctC>ctA	p.L213L	DACT1_ENST00000395153.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000556859.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	213					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTTCAGATCTCATAGGATTGT	0.418000													13	13					2.27111e-07	2.36017e-07	1	1	0
LINC00174	285908	broad.mit.edu	37	7	65842558	65842558	+	RNA	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:65842558G>A	ENST00000421767.1	-	0	3174					NR_026873.1																						TGTTCCTGGCGAGGCTTATTT	0.567000													3	11					0	0	1	0	0
ORMDL1	94101	broad.mit.edu	37	2	190636583	190636583	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:190636583G>A	ENST00000325795.3	-	3	1158	c.372C>T	c.(370-372)ttC>ttT	p.F124F	ORMDL1_ENST00000392350.3_Silent_p.F124F|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Silent_p.F124F			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	124					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TGTTTAGGATGAAGTGAGTTG	0.318000													8	39					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61729947	61729947	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:61729947G>C	ENST00000449131.2	+	9	1227	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.D69H|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.D354H|BEST1_ENST00000378043.4_Missense_Mutation_p.D441H|BEST1_ENST00000534553.1_3'UTR	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	441					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGGCCAGGAAGACAACAAGGC	0.582000													4	26					0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5462850	5462850	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:5462850C>G	ENST00000381577.3	+	4	497	c.411C>G	c.(409-411)atC>atG	p.I137M	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.I23M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	137	Ig-like C2-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ACAACAAAATCAACCAAAGAA	0.458000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								16	69					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100510842	100510842	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:100510842G>C	ENST00000457717.1	+	5	692	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	MTTP_ENST00000511045.1_Missense_Mutation_p.E173Q|MTTP_ENST00000265517.5_Missense_Mutation_p.E146Q	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	146	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTGGCCATAGAAAATATCAA	0.403000													6	20					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174815035	174815035	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:174815035G>A	ENST00000454872.1	+	2	627	c.499G>A	c.(499-501)Gag>Aag	p.E167K	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	167					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTATATCAAGAGATTCTCAA	0.343000													13	55					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133206	30133206	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:30133206C>T	ENST00000403394.1	-	2	391	c.292G>A	c.(292-294)Gag>Aag	p.E98K	MAPK3_ENST00000263025.4_Missense_Mutation_p.E98K|MAPK3_ENST00000322266.5_Missense_Mutation_p.E98K|MAPK3_ENST00000395202.1_Missense_Mutation_p.E98K|MAPK3_ENST00000395200.1_Missense_Mutation_p.E69K|MAPK3_ENST00000484663.1_5'UTR|MAPK3_ENST00000395199.3_Missense_Mutation_p.E98K	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	98	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	ATGACATTCTCATGGCGGAAG	0.597000													10	12					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904976	12904976	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:12904976C>T	ENST00000380659.3	+	3	1488	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	450					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATGCCAGAACTTCTGTAGAA	0.348000													16	106					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149900973	149900973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:149900973C>T	ENST00000367419.5	+	5	554	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TTCACAGGTTCAGCAAAAGGA	0.323000													6	21					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21138471	21138471	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:21138471G>C	ENST00000215727.5	+	3	1384	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.K367N	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	367					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGGATGAAGACCCTCGAAG	0.522000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	45					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016398	132016398	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:132016398C>T	ENST00000374786.1	+	2	869	c.390C>T	c.(388-390)ctC>ctT	p.L130L	NTM_ENST00000427481.2_Silent_p.L121L|NTM_ENST00000425719.2_Silent_p.L130L|NTM_ENST00000374791.3_Silent_p.L130L|NTM_ENST00000539799.1_Silent_p.L130L|NTM_ENST00000374784.1_Silent_p.L130L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	130					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGGTCCACCTCATTGTGCAAG	0.557000													4	15					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19525423	19525423	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:19525423C>T	ENST00000375267.2	-	4	382		c.e4-1		UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAAGTGTTTCTGaaaagaaa	0.363000													3	25					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724767	112724767	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:112724767C>T	ENST00000369452.4	+	2	996	c.651C>T	c.(649-651)ctC>ctT	p.L217L	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.L217L	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	217					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TGTCAAAACTCAGCATGCTTA	0.358000													11	25					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100062614	100062614	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:100062614C>T	ENST00000369215.4	+	4	2408	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AGGTTGGGGGCGGCGGGGAGC	0.652000													17	47					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457477	1457477	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:1457477G>C	ENST00000345913.4	+	6	585	c.494G>C	c.(493-495)aGa>aCa	p.R165T	TPO_ENST00000329066.4_Missense_Mutation_p.R165T|TPO_ENST00000349624.3_Missense_Mutation_p.R165T|TPO_ENST00000346956.3_Missense_Mutation_p.R165T|TPO_ENST00000382201.3_Missense_Mutation_p.R165T|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R165T|TPO_ENST00000382198.1_Missense_Mutation_p.R165T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	165					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCACCCCAGATGGGGCGCC	0.562000													18	55					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77759617	77759617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:77759617G>T	ENST00000381714.3	+	5	846	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	HMG20A_ENST00000336216.4_Nonsense_Mutation_p.E140*	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	140					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTAGGCAATGAATGGAGTAA	0.383000													10	20					7.48243e-07	7.75053e-07	1	1	0
UBR4	23352	broad.mit.edu	37	1	19524274	19524274	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:19524274C>T	ENST00000375267.2	-	7	786	c.783G>A	c.(781-783)ttG>ttA	p.L261L	UBR4_ENST00000375217.2_Silent_p.L261L|UBR4_ENST00000375254.3_Silent_p.L261L|UBR4_ENST00000375226.2_Silent_p.L261L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	261					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGGCAGGTTCAAACATACAC	0.423000													17	78					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9196894	9196894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:9196894C>T	ENST00000327827.7	+	3	758	c.361C>T	c.(361-363)Cag>Tag	p.Q121*		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	121										endometrium(4)|large_intestine(2)|lung(2)	8						GATTGGCTATCAGCGACGCAA	0.398000													29	88					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10680264	10680264	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:10680264C>G	ENST00000302079.6	-	47	7355	c.7356G>C	c.(7354-7356)caG>caC	p.Q2452H	PIEZO2_ENST00000538948.1_Missense_Mutation_p.Q472H|PIEZO2_ENST00000581680.1_Intron|PIEZO2_ENST00000285141.4_Missense_Mutation_p.Q307H|PIEZO2_ENST00000503781.3_Missense_Mutation_p.Q2515H|PIEZO2_ENST00000580640.1_Missense_Mutation_p.Q2540H			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2515						integral to membrane	ion channel activity										GTATCATTTTCTGCTTACTGG	0.378000													15	22					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57327857	57327857	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:57327857C>A	ENST00000293502.1	-	1	332	c.189G>T	c.(187-189)caG>caT	p.Q63H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	63						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCTGAAGTTTCTGGGATCCCT	0.592000													22	21					4.35082e-09	4.60164e-09	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96141145	96141145	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:96141145C>T	ENST00000453304.1	-	8	1639	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A450T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	431					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCTTGTCTTGCTGCCTTGATG	0.423000													7	28					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447223	78447223	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:78447223C>T	ENST00000306773.4	-	3	831	c.674G>A	c.(673-675)gGa>gAa	p.G225E	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	225					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GAACTTGTCTCCAGGGCGGTT	0.537000													47	27					0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41654872	41654872	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:41654872G>A	ENST00000379487.3	+	9	1247	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	WBP4_ENST00000542082.1_Missense_Mutation_p.E262K	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	283					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTCAAATGAAGAAAAATCGAA	0.333000													12	59					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841489	1841489	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:1841489G>C	ENST00000415638.3	-	2	1123	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	IGFALS_ENST00000215539.3_Missense_Mutation_p.F310L	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	310					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCAGGTCCTTGAAGGTGCGGG	0.687000													6	11					0	0	1	0	0
THEM4	117145	broad.mit.edu	37	1	151860784	151860784	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:151860784G>A	ENST00000368814.3	-	4	871	c.522C>T	c.(520-522)atC>atT	p.I174I	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	174					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		p.I174I(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTCATGACGATTCCCCCAG	0.413000													10	53					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440369	57440369	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:57440369G>C	ENST00000442789.2	-	9	894	c.607C>G	c.(607-609)Cag>Gag	p.Q203E	MYO1A_ENST00000300119.3_Missense_Mutation_p.Q203E|MYO1A_ENST00000544473.1_Missense_Mutation_p.Q41E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	203	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCCAGCAGCTGATAGAAGATG	0.478000													8	58					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105926320	105926320	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:105926320C>G	ENST00000357060.3	-	23	3080	c.2965G>C	c.(2965-2967)Gat>Cat	p.D989H	WDR96_ENST00000428666.1_Missense_Mutation_p.D990H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	989										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGAGGTATCTACCCCAAAA	0.363000													17	20					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31309235	31309235	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:31309235A>T	ENST00000544665.3	+	14	1741	c.1670A>T	c.(1669-1671)cAc>cTc	p.H557L	ITGAM_ENST00000287497.8_Missense_Mutation_p.H556L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	556					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TACCTGTTTCACGGAACCTCA	0.562000													20	35					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045627	87045627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:87045627C>T	ENST00000370563.3	+	14	2401	c.2359C>T	c.(2359-2361)Caa>Taa	p.Q787*	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	787						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTTCTCAGTTCAACGTTATAT	0.323000													8	26					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246090	56246090	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:56246090G>C	ENST00000361673.3	-	4	2131	c.1918C>G	c.(1918-1920)Cta>Gta	p.L640V	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	640							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTCAAATAGAGTATTAACT	0.418000													16	64					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719825	57719825	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:57719825C>G	ENST00000333493.4	+	11	1688	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	GPR97_ENST00000327655.6_Missense_Mutation_p.F299L|GPR97_ENST00000450388.3_Missense_Mutation_p.F389L|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	509					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCACTTTTCAACTCCTTGC	0.597000													19	26					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398368	57398368	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:57398368C>G	ENST00000300101.2	-	2	419	c.334G>C	c.(334-336)Gag>Cag	p.E112Q		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGAGGTCCTCCATACCCAGA	0.542000													12	19					0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158696067	158696067	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:158696067C>G	ENST00000296786.6	+	2	470	c.144C>G	c.(142-144)ctC>ctG	p.L48L		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity	p.L48L(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTTGGACTCAAAGTTAAAG	0.318000													25	38					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:140109118C>G	ENST00000371521.4	+	7	902	c.819C>G	c.(817-819)ctC>ctG	p.L273L	NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000344894.5_Silent_p.L273L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	273	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682000													12	7					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102774205	102774205	+	Silent	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:102774205T>C	ENST00000410023.1	+	3	339	c.21T>C	c.(19-21)ctT>ctC	p.L7L	IL1R1_ENST00000409288.1_Silent_p.L7L|IL1R1_ENST00000409329.1_Silent_p.L7L|IL1R1_ENST00000409589.1_Silent_p.L7L|IL1R1_ENST00000424272.1_Silent_p.L7L|IL1R1_ENST00000233946.3_Silent_p.L7L|IL1R1_ENST00000409929.1_Silent_p.L7L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	7					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TACTCAGACTTATTTGTTTCA	0.318000													5	35					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427331	90427331	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:90427331G>C	ENST00000394375.3	+	4	254	c.141G>C	c.(139-141)caG>caC	p.Q47H	LIPF_ENST00000355843.2_Missense_Mutation_p.Q47H|LIPF_ENST00000238983.4_Missense_Mutation_p.Q37H|LIPF_ENST00000608620.1_Missense_Mutation_p.Q37H	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	37					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTCAGAGTCAGATGATTACTT	0.269000													19	27					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124149570	124149570	+	Missense_Mutation	SNP	C	C	T	rs147315682		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:124149570C>T	ENST00000360013.3	+	16	2898	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L	KALRN_ENST00000240874.3_Missense_Mutation_p.S924L|KALRN_ENST00000460856.1_Missense_Mutation_p.S924L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	924					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTCTTTGTCGGAAGCAGAG	0.567000													3	31					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40748110	40748110	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:40748110G>C	ENST00000298910.7	+	45	6644	c.6586G>C	c.(6586-6588)Gat>Cat	p.D2196H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2196					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAAGTTGCTGATAGTAGAAT	0.373000													7	27					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534302	31534302	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:31534302C>G	ENST00000215885.3	-	3	994	c.742G>C	c.(742-744)Gag>Cag	p.E248Q		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	248	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.E248Q(1)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCCTGCTCCTCCAGCACAAAG	0.617000													4	8					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169981184	169981184	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:169981184G>C	ENST00000295797.4	+	4	636	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	111	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGTGTACCAGAACGTCCTGG	0.323000													14	33					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:113742891G>A	ENST00000397030.1	+	25	2919	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657000													3	10					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701674	31701674	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:31701674C>T	ENST00000375780.2	-	4	786	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	CLIC1_ENST00000375784.3_Missense_Mutation_p.E72K|CLIC1_ENST00000375779.2_Missense_Mutation_p.E72K|CLIC1_ENST00000395892.1_Missense_Mutation_p.E72K			O00299	CLIC1_HUMAN	chloride intracellular channel 1	72	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGTGCACTTCAGTGCCATAC	0.567000													44	37					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554096	64554096	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:64554096C>T	ENST00000498707.1	-	29	4814	c.4472G>A	c.(4471-4473)aGa>aAa	p.R1491K	ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1463K|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1491	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCACTTTCTGTGCCCATG	0.498000													12	21					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235618981	235618981	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:235618981C>G	ENST00000366600.3	-	9	1269	c.1041G>C	c.(1039-1041)acG>acC	p.T347T		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	347					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AATTGAAGCTCGTTGTTTCCA	0.398000													15	33					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567156	99567156	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:99567156G>C	ENST00000331335.5	-	5	3834	c.3364C>G	c.(3364-3366)Cga>Gga	p.R1122G	FILIP1L_ENST00000487087.1_Missense_Mutation_p.R698G|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R882G|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R882G|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R1122G|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1122						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTGATTGTCGAGGAAGAGGT	0.388000													27	80					0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24718838	24718838	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:24718838C>G	ENST00000378119.4	-	1	2226	c.59G>C	c.(58-60)aGa>aCa	p.R20T	C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	20						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTTTTCTTTCTAAGCTGAGC	0.388000													55	38					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133960	38133960	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:38133960C>T	ENST00000317025.8	-	23	4443	c.3926G>A	c.(3925-3927)aGa>aAa	p.R1309K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R1298K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R1260K|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1309					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GATCTTTCGTCTCTTCTGTTT	0.408000			T	NUP98	AML								5	88					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36124779	36124779	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:36124779C>T	ENST00000249044.2	+	4	1136	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	379					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGTCTCGCTCACCTCTCCCC	0.572000													13	30					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561135	69561135	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:69561135C>T	ENST00000261858.2	+	5	1634	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	GLCE_ENST00000559420.2_Missense_Mutation_p.S405L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	469					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCCTCAATTCAGCTTTAAGG	0.413000													21	33					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179365833	179365833	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179365833C>T	ENST00000234453.5	+	7	1107	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTCACCGACTCTCCCAGCGAC	0.383000													11	59					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32844029	32844029	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:32844029G>A	ENST00000420878.3	-	3	743	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Silent_p.F96F|ZSCAN30_ENST00000592278.1_Silent_p.F96F|ZSCAN30_ENST00000383091.2_Silent_p.F96F|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000589178.1_Silent_p.F96F	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	96	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GGATGGCCAGGAACTGCTCCA	0.587000													4	35					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3288251	3288251	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:3288251C>G	ENST00000382004.3	-	8	1043		c.e8-1		RFX3_ENST00000302303.1_Splice_Site|RFX3_ENST00000358730.2_Splice_Site	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)						cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGAGTTTCCTCTTCATTAATG	0.358000													15	20					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53030927	53030927	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:53030927C>T	ENST00000276480.7	-	24	3513	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	944						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E944K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATATCTGCTTCAATTTTAAGG	0.308000													31	54					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50301458	50301458	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:50301458G>C	ENST00000330817.6	-	7	1176	c.903C>G	c.(901-903)ctC>ctG	p.L301L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGGAGTAGAGTGCCATGA	0.622000													9	30					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154224054	154224054	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:154224054C>G	ENST00000428931.1	+	14	1756	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C	UBAP2L_ENST00000361546.2_Missense_Mutation_p.S530C|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S541C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S530C	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	530					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGTCCTTTCTGATTATGAG	0.532000													25	84					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846316	106846316	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:106846316G>A	ENST00000276185.4	+	16	5146	c.5146G>A	c.(5146-5148)Gag>Aag	p.E1716K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1716						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGTGCGCTCCGAGGCCCAGCG	0.597000													8	30					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14749399	14749399	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:14749399C>G	ENST00000284268.6	-	6	1034	c.704G>C	c.(703-705)aGa>aCa	p.R235T	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.R37T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	235					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGCATCTTTCTTATTGTTGC	0.443000													8	97					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499352	52499352	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:52499352C>T	ENST00000371614.1	-	1	136	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	28							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCGCGGCCCTCGGCAGCCAGC	0.677000													4	7					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19566758	19566758	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:19566758C>T	ENST00000176643.6	+	7	1499	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	ALDH3A2_ENST00000395575.2_Silent_p.F351F|ALDH3A2_ENST00000581518.1_Silent_p.F351F|ALDH3A2_ENST00000579855.1_Silent_p.F351F|ALDH3A2_ENST00000571163.1_Silent_p.F24F|ALDH3A2_ENST00000339618.4_Silent_p.F351F			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	351					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCATAAATTTCATAAATGAAC	0.368000													14	42					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790328	80790328	+	Translation_Start_Site	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:80790328C>G	ENST00000269394.3	-	2	836	c.3G>C	c.(1-3)atG>atC	p.M1I	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512000													13	20					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59500964	59500964	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:59500964G>A	ENST00000288235.4	-	14	1845	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	482	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GAAGTTTCTGGAGCAGCGTCT	0.522000													25	33					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824390	34824390	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:34824390G>C	ENST00000265109.3	+	15	2730	c.2443G>C	c.(2443-2445)Gag>Cag	p.E815Q	RAI14_ENST00000512629.1_Missense_Mutation_p.E786Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E815Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E807Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E815Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E808Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E818Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	815						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAGAGAAAGAGAAGGTCCA	0.408000													10	113					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129596181	129596181	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:129596181G>C	ENST00000373464.4	+	3	1657	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E465Q|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E465Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAATACAACTGAGGCTAACTA	0.438000													47	39					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96591154	96591154	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:96591154C>A	ENST00000456556.1	-	30	2071	c.1987G>T	c.(1987-1989)Gtt>Ttt	p.V663F	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAAAGAGAAACTTTCTTTTTA	0.294000													2	1					0.115264	0.115506	1	1	0
CD40	958	broad.mit.edu	37	20	44757658	44757658	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:44757658C>G	ENST00000372285.3	+	9	885	c.813C>G	c.(811-813)atC>atG	p.I271M	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	271					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AGAGTCGCATCTCAGTGCAGG	0.602000									Immune Deficiency with Hyper-IgM				18	26					0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24706315	24706315	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:24706315C>T	ENST00000557854.1	+	5	835	c.558C>T	c.(556-558)ctC>ctT	p.L186L	GMPR2_ENST00000560517.1_3'UTR|GMPR2_ENST00000348719.7_Silent_p.L168L|GMPR2_ENST00000399440.2_Silent_p.L168L|GMPR2_ENST00000355299.4_Silent_p.L168L|GMPR2_ENST00000420554.2_Silent_p.L186L|GMPR2_ENST00000559104.1_Silent_p.L153L|GMPR2_ENST00000559910.1_Silent_p.L135L|GMPR2_ENST00000456667.3_Silent_p.L140L|GMPR2_ENST00000559836.1_Silent_p.L168L	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	168					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TAGAAGAGCTCATCCTTTCTG	0.507000													12	40					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127647616	127647616	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:127647616C>T	ENST00000508053.1	-	44	5883	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1637K			P35556	FBN2_HUMAN	fibrillin 2	1637					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGAAGCCTTCACCTCCGGGA	0.403000													3	34					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471280	77471280	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:77471280G>C	ENST00000560626.2	-	4	3464	c.2989C>G	c.(2989-2991)Caa>Gaa	p.Q997E	PEAK1_ENST00000558305.1_Missense_Mutation_p.Q997E|PEAK1_ENST00000312493.4_Missense_Mutation_p.Q997E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	997					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGCTGGCCTTGAGCAGGGTCG	0.542000													17	12					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563773	13563773	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:13563773G>A	ENST00000360228.5	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	CACNA1A_ENST00000573710.2_Silent_p.I152I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	152					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAAGGGCAATGATTTTAATTC	0.498000													11	48					0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543699	217543699	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:217543699C>T	ENST00000233813.4	-	2	1190	c.441G>A	c.(439-441)ctG>ctA	p.L147L		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	147					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAGCCTTCAGCTCGGAGA	0.607000													9	31					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22142525	22142525	+	Missense_Mutation	SNP	G	G	A	rs138975642	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:22142525G>A	ENST00000344642.2	+	3	788	c.601G>A	c.(601-603)Gat>Aat	p.D201N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D201N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	201	LDL-receptor class A.					integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CAACTGTGGCGATGGCAGTGA	0.627000													6	25					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12493153	12493153	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:12493153G>C	ENST00000409402.4	-	8	1374	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	SPIRE1_ENST00000453447.2_Silent_p.L249L|SPIRE1_ENST00000309836.5_Silent_p.L172L|SPIRE1_ENST00000383356.2_Silent_p.L210L|SPIRE1_ENST00000410092.3_Silent_p.L369L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	369	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TTCTTTCATGGAGGCTCCGTG	0.418000													10	30					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481819	159481819	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:159481819G>A	ENST00000389757.3	+	7	1158	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	PKP4_ENST00000389759.3_Missense_Mutation_p.A345T	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	345					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGGGATGACCGCCGTACCACA	0.572000										HNSCC(62;0.18)			6	28					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849865	73849865	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:73849865G>A	ENST00000523207.1	+	3	2863	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	759					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTCTTAGAAGAAACCCCCTC	0.597000													12	68					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228602726	228602726	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:228602726G>A	ENST00000366697.2	-	1	1004	c.48C>T	c.(46-48)tgC>tgT	p.C16C	TRIM17_ENST00000366698.2_Silent_p.C16C|TRIM17_ENST00000456946.2_Silent_p.C16C|TRIM17_ENST00000295033.3_Silent_p.C16C			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	16					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GACAGATGGAGCACGTAGCTT	0.582000													11	10					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167382323	167382323	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:167382323G>C	ENST00000367862.5	+	15	2164	c.1929G>C	c.(1927-1929)atG>atC	p.M643I	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.M631I|POU2F1_ENST00000420254.3_Missense_Mutation_p.M631I|POU2F1_ENST00000429375.2_Missense_Mutation_p.M591I|POU2F1_ENST00000367866.2_Missense_Mutation_p.M654I	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	631					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CAGCTCTAATGAGCAACAGTA	0.483000													30	36					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133733326	133733326	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:133733326C>T	ENST00000248211.6	+	5	1716	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Silent_p.F498F|ZNF10_ENST00000402932.2_Silent_p.F364F	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGAAAGCCTTCATCCGGAAGA	0.423000													11	39					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721089	54721089	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:54721089G>A	ENST00000391750.1	-	14	1905	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	LILRB3_ENST00000245620.9_Missense_Mutation_p.S591F|LILRB3_ENST00000424807.1_Missense_Mutation_p.S590F|LILRA6_ENST00000419410.2_Missense_Mutation_p.S591F|LILRA6_ENST00000440558.2_Missense_Mutation_p.S590F|LILRA6_ENST00000270464.5_Missense_Mutation_p.S591F|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.S602F|LILRB3_ENST00000407860.2_Missense_Mutation_p.S607F|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACATCCTGGGAGGCTTCAGA	0.637000													6	27					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801778	48801778	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:48801778C>T	ENST00000314191.2	-	34	4130	c.4074G>A	c.(4072-4074)ctG>ctA	p.L1358L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1358L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1359					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGTCCTTCTTCAGGAGCTGTA	0.488000								Non-homologous end-joining					10	14					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614186	46614186	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:46614186C>G	ENST00000396000.2	+	5	661	c.396C>G	c.(394-396)ctC>ctG	p.L132L	PPARA_ENST00000434345.2_Silent_p.L132L|PPARA_ENST00000402126.1_Silent_p.L132L|PPARA_ENST00000407236.1_Silent_p.L132L|PPARA_ENST00000262735.5_Silent_p.L132L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	132					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CGATTCGACTCAAGCTGGTGT	0.478000													10	32					0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2489885	2489885	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:2489885G>T	ENST00000355716.4	+	3	581	c.282G>T	c.(280-282)ctG>ctT	p.L94L	TNFRSF14_ENST00000442392.2_3'UTR|TNFRSF14_ENST00000409119.1_Silent_p.L94L	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	94					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCAAGTGTCTGCAGTGCCAAA	0.637000			"""Mis, N, F"""		follicular lymphoma								30	62					1.7881e-09	1.89539e-09	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52366134	52366134	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:52366134A>T	ENST00000356297.4	-	10	1294	c.1194T>A	c.(1192-1194)tgT>tgA	p.C398*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.C398*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	398	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTGGCATGACAGGTAAATC	0.488000													3	16					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140380901	140380901	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:140380901G>C	ENST00000072869.4	+	4	1447	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	ADCK2_ENST00000476491.1_Missense_Mutation_p.K423N	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	423	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGAAAAGGAAGATTGCACGGC	0.567000													18	22					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106744227	106744227	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:106744227G>A	ENST00000515279.1	+	6	1576		c.e6+1		GSTCD_ENST00000360505.5_Splice_Site|RP11-45L9.1_ENST00000504955.1_RNA|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000515255.1_Splice_Site|RP11-45L9.1_ENST00000509003.1_RNA|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394728.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAGCGGTGGGGTATTTTATCT	0.383000													25	50					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47732390	47732390	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:47732390G>C	ENST00000455779.1	+	31	3199	c.3014G>C	c.(3013-3015)aGa>aCa	p.R1005T	PHKB_ENST00000566044.1_Missense_Mutation_p.R1005T|PHKB_ENST00000323584.5_Missense_Mutation_p.R1012T|PHKB_ENST00000299167.8_Missense_Mutation_p.R1012T			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1012					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTACTGGAAAGAAACCCCGAG	0.358000													19	50					0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19283602	19283602	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:19283602C>T	ENST00000289119.2	-	2	408	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.R90Q|ABHD3_ENST00000578270.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	90						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GGTCTGTCCTCGACCCTCCCA	0.527000													15	40					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121448045	121448045	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:121448045C>A	ENST00000260197.7	+	25	3645	c.3516C>A	c.(3514-3516)cgC>cgA	p.R1172R	SORL1_ENST00000534286.1_Silent_p.R82R|SORL1_ENST00000532694.1_Silent_p.R18R|SORL1_ENST00000525532.1_Silent_p.R116R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1172	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTGCATCCGCTCCTCCTGGG	0.537000													13	37					7.03913e-09	7.42025e-09	1	1	0
CYP1B1	1545	broad.mit.edu	37	2	38297913	38297913	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:38297913G>T	ENST00000260630.3	-	3	1985	c.1584C>A	c.(1582-1584)ctC>ctA	p.L528L	CYP1B1_ENST00000407341.1_Silent_p.L528L|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	528					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	CACTATCAAGGAGCTCCATGG	0.398000													27	52					9.39395e-14	1.00582e-13	1	1	0
UBR4	23352	broad.mit.edu	37	1	19480410	19480410	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:19480410G>C	ENST00000375267.2	-	45	6485	c.6482C>G	c.(6481-6483)tCt>tGt	p.S2161C	UBR4_ENST00000375217.2_Missense_Mutation_p.S2161C|UBR4_ENST00000375254.3_Missense_Mutation_p.S2161C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2161C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2161					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S2161Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGAGCAGGAGAAGTCTTACT	0.483000													8	47					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212560363	212560363	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:212560363G>C	ENST00000261455.4	-	3	350	c.213C>G	c.(211-213)atC>atG	p.I71M	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.I132M	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	71						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GGTAGATGAAGATGAGTAGGA	0.537000													11	60					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46065078	46065078	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:46065078C>G	ENST00000349995.5	+	9	1065	c.953C>G	c.(952-954)tCt>tGt	p.S318C		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	318					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GAACTGCGGTCTGAAAAAATA	0.308000													8	27					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7216775	7216775	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:7216775G>T	ENST00000380728.2	-	8	948	c.648C>A	c.(646-648)ttC>ttA	p.F216L	GPS2_ENST00000389167.5_Missense_Mutation_p.F216L|GPS2_ENST00000391950.3_Missense_Mutation_p.F216L|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	216					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCACTGCAGGGAATGCCGAAG	0.517000											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	12					8.88839e-20	9.57057e-20	1	1	0
DLG5	9231	broad.mit.edu	37	10	79572015	79572015	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:79572015G>A	ENST00000372391.2	-	21	4151	c.4146C>T	c.(4144-4146)atC>atT	p.I1382I	DLG5_ENST00000372388.2_Silent_p.I1042I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1382	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGGTGAGCGATGCTCCCCA	0.622000													4	26					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703312	98703312	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:98703312G>C	ENST00000336273.3	+	6	1272	c.944G>C	c.(943-945)aGg>aCg	p.R315T	MTDH_ENST00000519934.1_Missense_Mutation_p.R292T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	315					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GCAGGAAAGAGGAAAACTGAG	0.473000													19	41					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608764	42608764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:42608764G>A	ENST00000359486.3	-	1	2684	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.Q850*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGATGACTGAGGCTCTATT	0.478000													16	86					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835217	12835217	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:12835217G>T	ENST00000357726.4	+	1	234	c.207G>T	c.(205-207)ctG>ctT	p.L69L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	69										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGGTCCCTGATGAAGTCAT	0.567000													9	51					0.0581538	0.0585218	1	1	0
APBB3	10307	broad.mit.edu	37	5	139939925	139939925	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:139939925G>A	ENST00000357560.4	-	12	1640	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	APBB3_ENST00000356738.2_Silent_p.L404L|APBB3_ENST00000508496.2_Silent_p.L176L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Silent_p.L397L|APBB3_ENST00000354402.5_Silent_p.L406L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	399	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTTCAGAGAGTCCCCCTG	0.622000													4	24					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870838	61870838	+	Missense_Mutation	SNP	G	G	A	rs149691951	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:61870838G>A	ENST00000217169.3	+	6	992	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	BIRC7_ENST00000342412.6_Missense_Mutation_p.V242M|BIRC7_ENST00000395306.1_Missense_Mutation_p.V155M	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	260					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GGACCGCGCCGTGTCCATCGT	0.701000													6	40					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996185	100996185	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:100996185G>A	ENST00000284382.4	-	12	1335	c.912C>T	c.(910-912)ctC>ctT	p.L304L	CERS3_ENST00000394113.1_Silent_p.L304L|CERS3_ENST00000538112.2_Silent_p.L304L|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	304	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCTGTAGGTTGAGGAAGATGT	0.408000													9	22					0	0	1	0	0
AHSA2	130872	broad.mit.edu	37	2	61412688	61412688	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:61412688C>G	ENST00000394457.3	+	4	1870	c.127C>G	c.(127-129)Ctt>Gtt	p.L43V	AHSA2_ENST00000357022.2_Missense_Mutation_p.L43V|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.L43V			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)						response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CACTGTGGCTCTTCACATGAT	0.468000													25	51					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654555	49654555	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:49654555G>A	ENST00000249601.4	-	10	2272	c.1976C>T	c.(1975-1977)tCt>tTt	p.S659F	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S665F|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.S492F|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S569F|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S550F|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.S500F|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S675F	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	659					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCCCGTTCAGAGTTCCGCAG	0.498000													13	36					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028702	38028702	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:38028702G>C	ENST00000377940.3	+	4	659	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	ZPBP2_ENST00000348931.4_Missense_Mutation_p.E196Q|ZPBP2_ENST00000584588.1_Intron	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	196					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAATTCCAGAACATGGCCT	0.299000													24	23					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89986844	89986844	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:89986844C>T	ENST00000405460.2	+	31	7033	c.6937C>T	c.(6937-6939)Ccg>Tcg	p.P2313S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2313	Calx-beta 16.				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)		TGACGACGTTCCGGAGATTGA	0.473000													10	59					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45810952	45810952	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:45810952G>C	ENST00000372086.3	-	11	1676	c.1276C>G	c.(1276-1278)Ctg>Gtg	p.L426V	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.L397V|TESK2_ENST00000538496.1_Missense_Mutation_p.L343V|TESK2_ENST00000341771.6_Missense_Mutation_p.L397V	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	426					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCAAATACCAGAGAGATGACA	0.602000													6	32					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480279	25480279	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:25480279G>C	ENST00000381884.4	-	7	2082	c.1897C>G	c.(1897-1899)Cat>Gat	p.H633D	CENPJ_ENST00000545981.1_Missense_Mutation_p.H633D	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	633					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGGTTACAATGACTAATGGGA	0.483000													5	30					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113505207	113505207	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:113505207C>T	ENST00000505019.1	-	15	4350	c.4225G>A	c.(4225-4227)Gat>Aat	p.D1409N		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCTTAATATCACTTAAAACC	0.383000													7	32					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8245322	8245322	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:8245322C>T	ENST00000339754.5	+	5	512	c.434C>T	c.(433-435)gCt>gTt	p.A145V		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	145					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GAAATGGATGCTCGTCCTAAG	0.413000													5	10					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220730	18220730	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:18220730G>A	ENST00000406438.3	+	1	2107	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	543										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGCCATTAATGAAGAAGAATC	0.512000													57	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416091	49416091	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49416091C>G	ENST00000301067.7	-	52	16383	c.16384G>C	c.(16384-16386)Gat>Cat	p.D5462H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AACGTAGCATCAATCACATGT	0.512000													3	14					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616717	25616717	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:25616717C>T	ENST00000232165.3	-	6	1260	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	UBE3A_ENST00000397954.2_Missense_Mutation_p.E205K|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.E182K|UBE3A_ENST00000438097.1_Missense_Mutation_p.E182K|UBE3A_ENST00000428984.2_Missense_Mutation_p.E182K	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	205					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.E205K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCTGAGTCTTCTTCCATAGCA	0.413000													31	105					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412770	105412770	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:105412770C>T	ENST00000333244.5	-	7	9137	c.9018G>A	c.(9016-9018)ccG>ccA	p.P3006P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3006						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.597000													133	127					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118832303	118832303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:118832303C>T	ENST00000504811.1	+	13	1193	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y	HSD17B4_ENST00000256216.6_Missense_Mutation_p.H312Y|HSD17B4_ENST00000414835.2_Missense_Mutation_p.H172Y|HSD17B4_ENST00000513628.1_Missense_Mutation_p.H175Y|HSD17B4_ENST00000510025.1_Missense_Mutation_p.H288Y|HSD17B4_ENST00000509514.1_Missense_Mutation_p.H50Y|HSD17B4_ENST00000515320.1_Missense_Mutation_p.H294Y	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	312	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTCAGCAAATCATACTAGTCG	0.373000													38	43					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510773	169510773	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:169510773G>C	ENST00000367796.3	-	13	3771	c.3570C>G	c.(3568-3570)gtC>gtG	p.V1190V	F5_ENST00000367797.3_Silent_p.V1185V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1185	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGGAGAGATGACTGTCTGCC	0.507000													80	82					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527363	109527363	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:109527363G>C	ENST00000409271.1	-	8	1138	c.695C>G	c.(694-696)tCt>tGt	p.S232C	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.S232C			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGTTGACGGAGAGTCCAGGAA	0.642000													6	20					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54720564	54720564	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:54720564G>C	ENST00000230640.5	+	27	3347	c.3093G>C	c.(3091-3093)aaG>aaC	p.K1031N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.K930N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1031					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCAAAATCAAGAGAGATATTG	0.358000													5	43					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44553894	44553894	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:44553894G>T	ENST00000338758.7	+	11	939	c.876G>T	c.(874-876)atG>atT	p.M292I	PARVB_ENST00000406477.3_Missense_Mutation_p.M325I|PARVB_ENST00000404989.1_Missense_Mutation_p.M255I	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TTCTGCTCATGGGCCTTCTGG	0.498000													6	28					0.0381472	0.0384292	1	1	0
CD163	9332	broad.mit.edu	37	12	7636068	7636068	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:7636068C>T	ENST00000359156.4	-	12	3185	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	CD163_ENST00000541972.1_Missense_Mutation_p.E983K|CD163_ENST00000396620.3_Missense_Mutation_p.E1028K|CD163_ENST00000432237.2_Missense_Mutation_p.E995K|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	995	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCACTTCATTGAGCCAT	0.517000													7	34					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257661	34257661	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:34257661C>T	ENST00000379166.2	-	11	2063	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	KIF24_ENST00000345050.2_Silent_p.V514V|KIF24_ENST00000379174.3_Silent_p.V514V|KIF24_ENST00000402558.2_Silent_p.V648V	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	648					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAGTTCCTTTCACAGGGCTAG	0.488000													14	27					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944409	101944409	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:101944409C>T	ENST00000251127.6	-	9	1060	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NALCN_ENST00000376196.3_Missense_Mutation_p.E327K|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	327						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTCTGATTTCTGCAAATGTT	0.408000													7	23					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149011679	149011679	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:149011679G>A	ENST00000333677.6	+	13	2116	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	651	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGAATGGACAGAGGGGTTATG	0.602000													10	33					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20438513	20438513	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:20438513G>A	ENST00000222573.4	+	9	1861	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E258K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGTTCAGGTGGAAAACCAGGT	0.423000													19	44					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29100910	29100910	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:29100910G>C	ENST00000261590.8	+	4	570	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	DSG2_ENST00000585206.1_Missense_Mutation_p.E121Q	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	121	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGATCGAGAAGAAACACCATT	0.303000													9	22					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299228	58299228	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:58299228G>T	ENST00000377918.3	+	4	3306	c.3280G>T	c.(3280-3282)Gat>Tat	p.D1094Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1094					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CATGGCTTCCGATCAGATGGC	0.542000													12	69					4.3838e-07	4.54581e-07	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26104153	26104153	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:26104153G>A	ENST00000381655.2	+	3	380	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V40M	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	40					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAAGTACAGCGTGTTGACATT	0.348000													13	31					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200680	52200680	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:52200680G>C	ENST00000354534.6	+	27	5588	c.5410G>C	c.(5410-5412)Gag>Cag	p.E1804Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1763Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAGTTCATTGAGTACTGTAA	0.517000													17	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424630	179424630	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179424630C>G	ENST00000589042.1	-	326	86453	c.86229G>C	c.(86227-86229)caG>caC	p.Q28743H	TTN_ENST00000591111.1_Missense_Mutation_p.Q27102H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q19678H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q26175H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q19803H|TTN_ENST00000342175.6_Missense_Mutation_p.Q19870H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27102	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGCTATCTGAGGGTCAG	0.413000													10	43					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501705	140501705	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140501705C>G	ENST00000194152.1	+	1	125	c.125C>G	c.(124-126)tCc>tGc	p.S42C		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		42	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGCGGCTCCTTTGTAGCC	0.547000													11	43					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73466851	73466851	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:73466851C>T	ENST00000258091.5	+	2	228	c.87C>T	c.(85-87)tgC>tgT	p.C29C	CCT7_ENST00000473786.1_Intron|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000537131.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	29					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TCAGTGCCTGCCAGGTGATTG	0.498000													8	20					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115524099	115524099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:115524099C>T	ENST00000369522.3	+	29	2765	c.2525C>T	c.(2524-2526)tCt>tTt	p.S842F	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.S842F	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	842					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGGACATCTGCCAAAAAT	0.308000													20	62					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640130	104640130	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:104640130C>A	ENST00000315264.7	+	9	1916	c.1538C>A	c.(1537-1539)cCc>cAc	p.P513H	KIF26A_ENST00000423312.2_Missense_Mutation_p.P652H			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	652	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGGGGTCCCCTGTGTCTG	0.692000													13	7					1.05317e-09	1.1176e-09	1	1	0
GEMIN5	25929	broad.mit.edu	37	5	154296732	154296732	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:154296732C>T	ENST00000285873.7	-	13	1756	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	561					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAATATTTCTATTGATCTG	0.398000													8	46					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139529	75139529	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:75139529C>T	ENST00000539798.1	-	2	1023	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	KLHL35_ENST00000376292.4_Missense_Mutation_p.E122K	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	122										lung(2)|stomach(1)	3						GCGGCGAATTCTGAGCGAGTG	0.647000													6	22					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240421294	240421294	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:240421294T>C	ENST00000319653.9	+	7	4345	c.4115T>C	c.(4114-4116)aTg>aCg	p.M1372T	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1372	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAATACTAATGTCTAGCCTT	0.323000													28	42					0	0	1	0	0
ARL4C	10123	broad.mit.edu	37	2	235405199	235405199	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:235405199A>T	ENST00000390645.2	-	1	498	c.32T>A	c.(31-33)tTc>tAc	p.F11Y	ARL4C_ENST00000339728.3_Missense_Mutation_p.F11Y	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	11					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CAGGGACTGGAAGGCCGAGAT	0.662000													5	18					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196694328	196694328	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:196694328G>T	ENST00000367429.4	+	12	2014	c.1774G>T	c.(1774-1776)Gtg>Ttg	p.V592L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	592	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGTTGGAGAGGTGTTGAAATT	0.383000													16	32					4.75885e-15	5.10106e-15	1	1	0
SNAP47	116841	broad.mit.edu	37	1	227935798	227935798	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:227935798G>A	ENST00000366759.4	+	2	910	c.496G>A	c.(496-498)Gag>Aag	p.E166K	SNAP47_ENST00000315781.5_Missense_Mutation_p.E166K|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	166	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCGGGGCGAGGAGCTGACGGG	0.627000													5	28					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080758	23080758	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:23080758G>T	ENST00000219689.7	-	16	2667	c.2668C>A	c.(2668-2670)Cac>Aac	p.H890N	USP31_ENST00000567975.1_Missense_Mutation_p.H183N	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	890	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCAGAGCTGTGAATTGGCGAA	0.507000													9	14					0.000442599	0.000449191	1	1	0
CRISP3	10321	broad.mit.edu	37	6	49705107	49705107	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:49705107C>T	ENST00000433368.2	-	2	141	c.72G>A	c.(70-72)atG>atA	p.M24I	CRISP3_ENST00000371159.4_Missense_Mutation_p.M32I|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Missense_Mutation_p.M14I|CRISP3_ENST00000393666.1_Start_Codon_SNP_p.M1I	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	1					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GGAATAATGTCATTGCTGGGA	0.428000													19	31					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111962241	111962241	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:111962241G>A	ENST00000540696.1	-	6	1111	c.536C>T	c.(535-537)tCa>tTa	p.S179L	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000369732.3_Silent_p.F337F			Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	0					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCTTGTAACTGAAGCTGATGG	0.483000													14	66					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531116	150531116	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:150531116G>C	ENST00000271643.4	+	15	2786	c.2550G>C	c.(2548-2550)tgG>tgC	p.W850C	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.W873C|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.W850C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.W850C	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	850	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAGCGACTGGAGCTCCAAGG	0.607000													5	27					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138196146	138196146	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:138196146G>C	ENST00000237289.4	+	3	526	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	154	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.E154*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAATTTGTTGAAACGGGGCT	0.507000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								32	64					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968409	5968409	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:5968409C>A	ENST00000399933.3	-	3	1821	c.1822G>T	c.(1822-1824)Ggt>Tgt	p.G608C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G608C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	608										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTATTTCACCTGGACTAAGA	0.363000													12	75					6.31663e-08	6.57867e-08	1	1	0
IL16	3603	broad.mit.edu	37	15	81574987	81574987	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:81574987C>T	ENST00000394660.2	+	9	1449	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	IL16_ENST00000302987.4_Silent_p.G363G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	363	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAGGCCGGCGTGGGCCTGG	0.652000													13	45					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316145	43316145	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:43316145C>G	ENST00000361428.2	-	6	3066	c.2989G>C	c.(2989-2991)Gag>Cag	p.E997Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.E997Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	997					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGTAGGCTCTCTACTGTCA	0.413000													42	108					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79438636	79438636	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:79438636C>G	ENST00000376718.3	-	6	791	c.668G>C	c.(667-669)aGt>aCt	p.S223T	PRUNE2_ENST00000376713.3_Missense_Mutation_p.S223T|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	223					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTTCAATACTTAAACCTGT	0.343000													7	46					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160885467	160885467	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:160885467C>G	ENST00000283243.7	-	5	1055	c.849G>C	c.(847-849)atG>atC	p.M283I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.M283I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	283	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTTACTGCTCATGTGCTCTG	0.438000													7	15					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6604750	6604750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:6604750C>A	ENST00000264670.6	-	16	2097	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*	NSUN2_ENST00000506139.1_Nonsense_Mutation_p.E561*|NSUN2_ENST00000539938.1_Nonsense_Mutation_p.E360*	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	596						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CAGTCAAACTCTTCACCGCTG	0.443000													26	47					7.01153e-11	7.47375e-11	1	1	0
PTK2	5747	broad.mit.edu	37	8	141774407	141774407	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:141774407G>A	ENST00000519465.1	-	1	215	c.44C>T	c.(43-45)tCt>tTt	p.S15F	PTK2_ENST00000520151.1_Missense_Mutation_p.S15F|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000395218.2_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AAAAGAAACAGATATGTTGAA	0.343000													10	101					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42117464	42117464	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:42117464G>A	ENST00000457542.2	+	31	4643	c.4357G>A	c.(4357-4359)Gac>Aac	p.D1453N	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D1459N|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D1336N|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D1292N|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D1176N|RP11-23P13.4_ENST00000510176.1_RNA	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1459										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCTCCTCAGAGACACCTTCTC	0.617000													5	8					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101246631	101246631	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:101246631G>C	ENST00000369162.2	-	8	1697	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	ASCC3_ENST00000522650.1_Silent_p.L451L	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTCAAAGCTGAGTGGCATTG	0.383000													23	47					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133842802	133842802	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:133842802G>A	ENST00000285928.2	+	6	754	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	229							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGAGATAGAAGAAATCAGTGG	0.328000													33	41					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67452134	67452134	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:67452134G>C	ENST00000371018.3	+	16	1707	c.1391G>C	c.(1390-1392)aGa>aCa	p.R464T	MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000371014.1_Missense_Mutation_p.R480T|MIER1_ENST00000355356.3_3'UTR|MIER1_ENST00000371016.1_Missense_Mutation_p.R444T|MIER1_ENST00000401042.3_Missense_Mutation_p.R427T|MIER1_ENST00000355977.6_Missense_Mutation_p.R364T	NM_001077702.2|NM_001146111.1|NM_001146112.1|NM_020948.3	NP_001071170.2|NP_001139583.1|NP_001139584.1|NP_065999.2	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATCAGTTCAAGAGCCAATGCC	0.338000													35	68					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622067	112622067	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:112622067C>T	ENST00000550722.1	-	61	10660	c.10265G>A	c.(10264-10266)gGc>gAc	p.G3422D	HECTD4_ENST00000430131.2_Missense_Mutation_p.G3146D|HECTD4_ENST00000377560.5_Missense_Mutation_p.G3396D	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTACATGGAGCCCATGTCCGA	0.637000													11	57					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807077	143807077	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:143807077C>T	ENST00000408979.2	+	1	471	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACACTGTCATCATGAGCTGGA	0.483000													18	103					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170591886	170591886	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:170591886C>T	ENST00000392647.2	+	2	606	c.362C>T	c.(361-363)tCa>tTa	p.S121L	KLHL23_ENST00000272797.4_Missense_Mutation_p.S121L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	121										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGTTCCTTTCAGTAAAGAAG	0.398000													28	61					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858827	149858827	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:149858827C>T	ENST00000331380.2	+	1	303	c.303C>T	c.(301-303)gtC>gtT	p.V101V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	101					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGGGCAAAGTCACCATCGCCC	0.542000													18	64					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93272072	93272072	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:93272072G>C	ENST00000446394.1	+	22	2374	c.2274G>C	c.(2272-2274)aaG>aaC	p.K758N	HECTD2_ENST00000536715.1_Missense_Mutation_p.K343N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K754N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K404N	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	754	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCCCCTACAAGAGCAAAAAGG	0.338000													49	77					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806995	35806995	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:35806995G>A	ENST00000440995.2	+	35	5182	c.5182G>A	c.(5182-5184)Gaa>Aaa	p.E1728K	SPEF2_ENST00000303129.4_Missense_Mutation_p.E530K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1733K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1733					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGGGGAAGTGAAGCACAGGA	0.393000													20	70					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715280	165715280	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:165715280G>T	ENST00000543069.1	-	2	800	c.219C>A	c.(217-219)ctC>ctA	p.L73L	C6orf118_ENST00000230301.8_Silent_p.L177L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	177										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CGGGCAGCCGGAGTTCTTCCC	0.632000													16	23					2.32078e-09	2.4573e-09	1	1	0
SDHA	6389	broad.mit.edu	37	5	228421	228421	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:228421G>C	ENST00000264932.6	+	6	858	c.743G>C	c.(742-744)aGa>aCa	p.R248T	SDHA_ENST00000504309.1_Missense_Mutation_p.R248T|SDHA_ENST00000510361.1_Missense_Mutation_p.R200T	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	248					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.R248T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CATCGCATAAGAGCAAAGAAC	0.383000									Familial Paragangliomas				32	67					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046670	1046670	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:1046670C>T	ENST00000360803.4	+	7	790	c.708C>T	c.(706-708)atC>atT	p.I236I	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.I189I|GTPBP4_ENST00000538293.1_Silent_p.I120I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	236					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGAACACCATCGAGATGCAGG	0.572000													4	24					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58262209	58262209	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:58262209C>G	ENST00000317178.5	+	2	353	c.90C>G	c.(88-90)ctC>ctG	p.L30L	ZNF776_ENST00000431353.1_Silent_p.L30L|AC003006.7_ENST00000594684.1_Silent_p.L30L	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AATGGAGTCTCCTTAGTGAGG	0.468000													11	52					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084512	58084512	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:58084512G>T	ENST00000357272.4	+	8	1387	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	FLNB_ENST00000493452.1_Missense_Mutation_p.D239Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D408Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D239Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D408Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D408Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D408Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D408Y			O75369	FLNB_HUMAN	filamin B, beta	408					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTCGTGGAAGACAAAGGAAA	0.522000													16	31					2.31682e-05	2.3639e-05	1	1	0
CLPB	81570	broad.mit.edu	37	11	72005416	72005416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:72005416C>A	ENST00000294053.3	-	15	1896	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	CLPB_ENST00000538039.1_Nonsense_Mutation_p.E545*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.E374*|CLPB_ENST00000340729.5_Nonsense_Mutation_p.E516*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.E183*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.E530*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	575					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGATGAGCTCCGAGTGGCAG	0.557000													7	23					2.0095e-06	2.0725e-06	1	1	0
MKI67	4288	broad.mit.edu	37	10	129907286	129907286	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:129907286C>G	ENST00000368654.3	-	13	3193	c.2818G>C	c.(2818-2820)Gaa>Caa	p.E940Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E580Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	940					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCGTTTTCTTTTAATTCA	0.393000													40	51					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43230651	43230651	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:43230651C>G	ENST00000422911.1	-	22	2783	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.K874N|PRDM15_ENST00000447207.2_Missense_Mutation_p.K837N|PRDM15_ENST00000269844.3_Missense_Mutation_p.K1203N|PRDM15_ENST00000538201.1_Missense_Mutation_p.K857N	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCACGTACTTCTTGTCGCACA	0.582000													4	29					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52366133	52366133	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:52366133G>A	ENST00000356297.4	-	10	1295	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H399Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	399	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTGTTGGCATGACAGGTAAAT	0.483000													3	16					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412038	50412038	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:50412038C>G	ENST00000596217.1	-	2	2914	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.E343Q|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.E343Q|NUP62_ENST00000352066.3_Missense_Mutation_p.E343Q|NUP62_ENST00000413454.1_Missense_Mutation_p.E343Q			P37198	NUP62_HUMAN	nucleoporin 62kDa	343					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCTCTAGCTCCAGGCTCCAT	0.647000													8	47					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19017391	19017391	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:19017391C>G	ENST00000379878.3	-	25	2530	c.2289G>C	c.(2287-2289)tgG>tgC	p.W763C	GPR64_ENST00000354791.3_Missense_Mutation_p.W763C|GPR64_ENST00000357991.3_Missense_Mutation_p.W776C|GPR64_ENST00000360279.4_Missense_Mutation_p.W757C|GPR64_ENST00000356606.4_Missense_Mutation_p.W765C|GPR64_ENST00000340581.3_Missense_Mutation_p.W660C|GPR64_ENST00000379869.3_Missense_Mutation_p.W779C|GPR64_ENST00000379873.2_Missense_Mutation_p.W779C|GPR64_ENST00000357544.3_Missense_Mutation_p.W749C|GPR64_ENST00000379876.1_Missense_Mutation_p.W755C	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	779					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGTTGTTGATCCAGCAGCTGG	0.398000													26	82					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143356191	143356191	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:143356191G>C	ENST00000519651.1	-	10	843	c.740C>G	c.(739-741)tCg>tGg	p.S247W	TSNARE1_ENST00000307180.3_Missense_Mutation_p.S466W|TSNARE1_ENST00000524325.1_Missense_Mutation_p.S465W|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S466W			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	466					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGCATGCGAGGACGCAGC	0.657000													3	7					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199295	100199295	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:100199295C>A	ENST00000409236.2	-	15	2870	c.2758G>T	c.(2758-2760)Gac>Tac	p.D920Y	AFF3_ENST00000317233.4_Missense_Mutation_p.D920Y|AFF3_ENST00000356421.2_Missense_Mutation_p.D945Y|AFF3_ENST00000409579.1_Missense_Mutation_p.D945Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGGCTGTCGGCCTTAGGC	0.483000													12	47					7.03913e-09	7.42025e-09	1	1	0
NMNAT2	23057	broad.mit.edu	37	1	183230154	183230154	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:183230154G>C	ENST00000287713.6	-	10	1138	c.804C>G	c.(802-804)gtC>gtG	p.V268V	NMNAT2_ENST00000294868.4_Silent_p.V263V	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	268					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						tggttgagctgacaacagaca	0.458000													68	89					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309386	43309386	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:43309386C>G	ENST00000380486.3	-	14	2179	c.1938G>C	c.(1936-1938)atG>atC	p.M646I	C2CD2_ENST00000329623.7_Missense_Mutation_p.M491I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	646						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GTGACTGACTCATGCCTGGGT	0.552000													5	19					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726197	53726197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:53726197G>A	ENST00000262135.4	-	4	403	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R104*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.R104*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R104*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	104					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCACATCTCGTCCCAGCCGC	0.428000													58	93					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303423	112303423	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:112303423G>C	ENST00000369702.4	+	5	1396	c.776G>C	c.(775-777)aGa>aCa	p.R259T	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	259	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTACATGAGAGATCCCACT	0.388000													21	64					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932603	39932603	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:39932603T>A	ENST00000342274.4	-	4	2358	c.1996A>T	c.(1996-1998)Att>Ttt	p.I666F	BCOR_ENST00000378444.4_Missense_Mutation_p.I666F|BCOR_ENST00000378455.4_Missense_Mutation_p.I666F|BCOR_ENST00000397354.3_Missense_Mutation_p.I666F	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	666	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTACAGCAATGCCCTCAGGG	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	19					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175877	79175877	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:79175877C>T	ENST00000554719.1	+	4	911	c.420C>T	c.(418-420)ctC>ctT	p.L140L	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.L140L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	144	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAACTCCTCGATGGCAACC	0.502000													12	33					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40327651	40327651	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:40327651G>A	ENST00000264661.3	-	6	1265	c.933C>T	c.(931-933)atC>atT	p.I311I	KCNH4_ENST00000607371.1_Silent_p.I311I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	311					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAATAAGGTCGATGAAGAACC	0.547000													26	25					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74283881	74283881	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:74283881C>T	ENST00000262765.5	-	6	3577	c.3398G>A	c.(3397-3399)aGa>aAa	p.R1133K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1133							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGCATTTTACCTGAGGACACC	0.562000													23	25					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121519053	121519053	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:121519053C>T	ENST00000305949.1	+	16	1880	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	612	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTTTACCTCAGATGGATTA	0.368000													6	33					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108233505	108233505	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:108233505C>G	ENST00000281092.4	+	10	1576	c.1192C>G	c.(1192-1194)Cca>Gca	p.P398A	FER_ENST00000438717.2_Missense_Mutation_p.P223A|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	398					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGAGCCACCTCCAGTAGTAAA	0.393000													6	28					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170697541	170697541	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:170697541C>T	ENST00000476287.1	+	7	2558	c.2450C>T	c.(2449-2451)tCt>tTt	p.S817F	FAM120B_ENST00000252510.9_Missense_Mutation_p.S149F|FAM120B_ENST00000537664.1_Missense_Mutation_p.S840F|FAM120B_ENST00000540480.1_Missense_Mutation_p.S829F	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	817					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TACTTGCAATCTGAAAAGGGT	0.448000													16	65					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44788416	44788416	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:44788416G>A	ENST00000398238.4	+	14	1665	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	NSF_ENST00000575068.1_Missense_Mutation_p.D515N|NSF_ENST00000225282.8_Missense_Mutation_p.D426N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	520					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGTTCTAGATGATGGGGAGCT	0.448000													42	21					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5772585	5772585	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:5772585G>A	ENST00000328090.5	+	11	1248	c.623G>A	c.(622-624)cGt>cAt	p.R208H	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	208																	TTAGTAAAGCGTCATTTCCAA	0.413000													14	49					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37336341	37336341	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:37336341G>C	ENST00000233057.4	-	15	1797	c.1475C>G	c.(1474-1476)tCa>tGa	p.S492*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.S492*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.S451*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	492	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTTTACCTTTGATGTTTCAAA	0.403000													9	30					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119051889	119051889	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:119051889C>T	ENST00000409109.1	+	8	2864	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	NLRX1_ENST00000525863.1_Silent_p.L759L|NLRX1_ENST00000292199.2_Silent_p.L759L|NLRX1_ENST00000409991.1_Silent_p.L759L|NLRX1_ENST00000409265.4_Silent_p.L759L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	759	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTTGCAACTCAACAGCCTGG	0.577000													8	23					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554844	106554844	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:106554844C>G	ENST00000369096.4	+	7	2195	c.1961C>G	c.(1960-1962)tCt>tGt	p.S654C	PRDM1_ENST00000369089.3_Missense_Mutation_p.S520C|PRDM1_ENST00000369091.2_Missense_Mutation_p.S618C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	654					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CGACTCCATTCTGGAGAGAAA	0.562000			"""D, N, Mis, F, S"""		DLBCL								20	62					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857024	210857024	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:210857024C>G	ENST00000367007.4	-	11	2657	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.E857Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	857					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCATCGACTCAGCCTTGGAC	0.592000													3	51					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108199772	108199772	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:108199772G>A	ENST00000278616.4	+	49	7499	c.7114G>A	c.(7114-7116)Gat>Aat	p.D2372N	ATM_ENST00000452508.2_Missense_Mutation_p.D2372N|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2372	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGAAATTATGATGGAGAAAG	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	22					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52941683	52941683	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:52941683G>A	ENST00000267119.5	-	6	1131	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	354	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTCTCTGGATGAGCCGAGTGA	0.562000													28	35					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12315284	12315284	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:12315284C>G	ENST00000261349.4	-	10	2198	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q	LRP6_ENST00000543091.1_Missense_Mutation_p.E708Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	708	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCCATGCCTTCTGGATAATCT	0.458000													15	102					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214160	140214160	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140214160C>T	ENST00000525929.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.F64F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCTGTTCCGGGCGGTGT	0.612000													81	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598097	179598097	+	Missense_Mutation	SNP	C	C	T	rs146847928	by1000genomes	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179598097C>T	ENST00000589042.1	-	54	16147	c.15923G>A	c.(15922-15924)cGa>cAa	p.R5308Q	TTN_ENST00000591111.1_Missense_Mutation_p.R4991Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R4064Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4991	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAACTTATTCGGTATTTTTT	0.473000													19	37					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64972544	64972544	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:64972544G>C	ENST00000326648.3	+	6	4058	c.3930G>C	c.(3928-3930)aaG>aaC	p.K1310N		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1310						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCACTACAAGAGCAAGTCTC	0.527000													11	12					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15763704	15763704	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:15763704G>T	ENST00000381341.2	+	20	1981	c.1592G>T	c.(1591-1593)gGa>gTa	p.G531V	DDX1_ENST00000233084.3_Missense_Mutation_p.G531V			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	531	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CAACAAGGAGGAGGTAATTTT	0.333000													15	38					1.3612e-06	1.40692e-06	1	1	0
KTI12	112970	broad.mit.edu	37	1	52499214	52499214	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:52499214C>A	ENST00000371614.1	-	1	274	c.220G>T	c.(220-222)Gac>Tac	p.D74Y	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	74							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATGACCACGTCGTGGCGACTC	0.642000													8	31					5.4927e-09	5.80292e-09	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79733589	79733589	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:79733589C>T	ENST00000338008.5	+	3	1265	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S362L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S362L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	362					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GATTCCTCTTCAGCTTTACAT	0.388000													10	77					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163854	84163854	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:84163854G>T	ENST00000219439.4	-	4	579	c.403C>A	c.(403-405)Cca>Aca	p.P135T	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	135						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473000													23	98					4.72057e-08	4.93256e-08	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73625194	73625194	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:73625194C>T	ENST00000317905.5	-	16	2468	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R743Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	770					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTCCACCCTTCGGCAGAAGAA	0.652000								Other identified genes with known or suspected DNA repair function					12	17					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57066760	57066760	+	Nonstop_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:57066760A>G	ENST00000301318.3	+	8	2677	c.2606A>G	c.(2605-2607)tAg>tGg	p.*869W	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCATCACCATAGCCTCGAGAC	0.453000													23	95					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40860013	40860013	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:40860013C>G	ENST00000428826.2	-	15	1744	c.1623G>C	c.(1621-1623)caG>caC	p.Q541H	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Missense_Mutation_p.Q541H|EZH1_ENST00000590078.1_Missense_Mutation_p.Q471H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q402H|EZH1_ENST00000585893.1_Missense_Mutation_p.Q501H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q532H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	541	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CACAGAAATTCTGAGTCATGA	0.498000													42	36					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39833004	39833004	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:39833004G>C	ENST00000309060.3	-	4	968	c.553C>G	c.(553-555)Cca>Gca	p.P185A	ZHX3_ENST00000560361.1_Missense_Mutation_p.P185A|ZHX3_ENST00000544979.2_Missense_Mutation_p.P185A|ZHX3_ENST00000557816.1_Missense_Mutation_p.P185A|ZHX3_ENST00000432768.2_Missense_Mutation_p.P185A|ZHX3_ENST00000558993.1_Missense_Mutation_p.P185A|ZHX3_ENST00000540170.1_Missense_Mutation_p.P185A|ZHX3_ENST00000559234.1_Missense_Mutation_p.P185A			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	185					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTCATGATTGGAGTTTTGGTA	0.502000													13	65					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129950684	129950684	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:129950684C>T	ENST00000222482.4	+	9	879	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CPA4_ENST00000493259.1_Missense_Mutation_p.S180L|CPA4_ENST00000445470.2_Missense_Mutation_p.S251L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	284					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CACGCCAATTCGGAAGTGGAG	0.493000													43	105					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120917560	120917560	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:120917560C>T	ENST00000355697.2	-	7	394	c.375G>A	c.(373-375)atG>atA	p.M125I	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.M116I	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	125					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCAGTGGCGTCATTGACAAAA	0.418000													7	14					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542698	133542698	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:133542698C>G	ENST00000409261.1	-	14	2059	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E562D|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	562							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTGGGCCCCTCTCCCTCTGTA	0.552000													34	42					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300367	40300367	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:40300367G>A	ENST00000263791.5	+	25	3590	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E1155K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1183	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACTATCTATGAAATCATCCA	0.403000													42	57					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47746425	47746425	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:47746425C>T	ENST00000359568.5	+	2	296	c.189C>T	c.(187-189)ctC>ctT	p.L63L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	63					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACAGCGCACTCTGTGGAGGAG	0.552000													7	35					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158626899	158626899	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:158626899C>T	ENST00000263640.3	-	7	1200	c.771G>A	c.(769-771)ctG>ctA	p.L257L	ACVR1_ENST00000434821.1_Silent_p.L257L|ACVR1_ENST00000410057.2_Silent_p.L257L|ACVR1_ENST00000409283.2_Silent_p.L257L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	257	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTTCATGCCTCAGCATCACAG	0.458000													10	91					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13105062	13105062	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:13105062G>A	ENST00000506447.1	+	40	7111	c.7031G>A	c.(7030-7032)aGc>aAc	p.S2344N	CEP192_ENST00000430049.2_Missense_Mutation_p.S1869N|CEP192_ENST00000325971.8_Missense_Mutation_p.S1748N|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1939										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCTGGAAAGCCATGGGATC	0.393000													16	45					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520105	6520105	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:6520105G>A	ENST00000377828.1	+	13	2632	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	ESPN_ENST00000461727.1_Missense_Mutation_p.E256K|ESPN_ENST00000416731.1_Missense_Mutation_p.E256K|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	822	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGGAGAAGGAACAGTCAGA	0.622000													7	22					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275661	71275661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:71275661C>T	ENST00000399575.2	+	3	790	c.616C>T	c.(616-618)Caa>Taa	p.Q206*		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	206	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AAATACTACTCAAATTCTCGC	0.463000													7	43					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006247	22006247	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:22006247C>T	ENST00000306317.2	-	8	1362	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	LGI3_ENST00000424267.2_Missense_Mutation_p.R334H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	358					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CTGGTGCCAGCGGTAGAGGCT	0.632000													8	13					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359632	72359632	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:72359632C>T	ENST00000001146.2	-	6	1466	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	CYP26B1_ENST00000546307.1_Silent_p.R346R|CYP26B1_ENST00000412253.1_Silent_p.R230R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	421					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGTCCTCGCTCCGCGCCTGGC	0.617000													13	20					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746182	145746182	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145746182C>T	ENST00000292524.1	+	3	1036	c.890C>T	c.(889-891)tCa>tTa	p.S297L	LRRC14_ENST00000529022.1_Missense_Mutation_p.S297L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	297										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCTCTCCTTTCAGGGAGGCTG	0.652000													9	42					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331513	83331513	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:83331513G>C	ENST00000261722.3	-	22	2916	c.2709C>G	c.(2707-2709)atC>atG	p.I903M	AP3B2_ENST00000535359.1_Missense_Mutation_p.I922M|AP3B2_ENST00000535348.1_Missense_Mutation_p.I871M|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	903					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.I902I(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGGCCCTTGATGGGGGTAT	0.582000													7	1					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39364495	39364495	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:39364495C>T	ENST00000263408.4	-	1	167	c.72G>A	c.(70-72)acG>acA	p.T24T	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	24					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCACCTGGTCGTGTACTGTG	0.473000													41	60					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103548364	103548364	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:103548364G>A	ENST00000358392.2	-	2	588	c.271C>T	c.(271-273)Cca>Tca	p.P91S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P91S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P91S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P91S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	91	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATATACCTGGAAATAACTGT	0.294000													9	51					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120876023	120876023	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:120876023G>A	ENST00000229379.2	+	1	131	c.94G>A	c.(94-96)Gag>Aag	p.E32K	AL021546.6_ENST00000551806.1_Missense_Mutation_p.R8K	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	32					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATGGCGAAGAGGGCTCAGG	0.677000													7	18					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122838999	122838999	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:122838999C>A	ENST00000358808.2	-	7	1462		c.e7+1		CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.?(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTGGGGTCACCTTTTCTCCT	0.512000													5	25					1.23904e-05	1.26965e-05	1	1	0
RBAK	57786	broad.mit.edu	37	7	5104666	5104666	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:5104666G>A	ENST00000396912.1	+	5	2098	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	RBAK_ENST00000353796.3_Missense_Mutation_p.D527N|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	527	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTCAGCCTTCGATGGGCACCA	0.388000													37	48					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913653	16913653	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:16913653G>C	ENST00000430580.2	-	11	1557	c.670C>G	c.(670-672)Cac>Gac	p.H224D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	224	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGTTCTTGTGAGGCTGGTTG	0.463000													17	288					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7010203	7010203	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:7010203C>G	ENST00000389658.3	-	26	3962	c.3869G>C	c.(3868-3870)aGa>aCa	p.R1290T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1290	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATCACCTCTCTCATTGCTAC	0.413000													7	23					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30695235	30695235	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:30695235G>C	ENST00000471646.1	-	10	1431	c.1014C>G	c.(1012-1014)atC>atG	p.I338M	CRHR2_ENST00000506074.2_Missense_Mutation_p.I338M|CRHR2_ENST00000348438.4_Missense_Mutation_p.I365M|CRHR2_ENST00000341843.4_Missense_Mutation_p.I324M	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	338					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATGAACATGATCTGTGACA	0.597000													52	67					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73269533	73269533	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:73269533C>T	ENST00000402418.3	-	6	1871	c.962G>A	c.(961-963)tGa>tAa	p.*321*	SLC25A19_ENST00000580994.1_Silent_p.*321*|SLC25A19_ENST00000442286.2_Silent_p.*321*|SLC25A19_ENST00000416858.2_Silent_p.*321*|RP11-649A18.12_ENST00000585075.1_RNA|RP11-649A18.12_ENST00000582668.1_RNA|SLC25A19_ENST00000320362.3_Silent_p.*321*|SLC25A19_ENST00000375261.4_Silent_p.*264*			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	0						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TTCCTGCACTCAGCGCTGGCT	0.567000													14	14					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77264601	77264601	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:77264601G>C	ENST00000341514.6	+	7	1865	c.1710G>C	c.(1708-1710)gtG>gtC	p.V570V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.V570V	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	570	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTTAACAGGTGAGGGGAATGA	0.403000													97	146					0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3576599	3576599	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:3576599G>A	ENST00000333651.6	+	7	643	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	190					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCACTGAAGAGTTCTT	0.582000													12	10					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152653015	152653015	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:152653015C>G	ENST00000367255.5	-	78	13406	c.12805G>C	c.(12805-12807)Gag>Cag	p.E4269Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4198Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4134Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4269Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4198Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4269					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGTACTCTCTGCATCAGAT	0.358000										HNSCC(10;0.0054)			25	42					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35037100	35037100	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:35037100G>C	ENST00000231420.6	-	4	633	c.433C>G	c.(433-435)Cca>Gca	p.P145A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	145					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCATGCATTGGAGGGTGGAAG	0.498000													17	44					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663257	123663257	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:123663257C>T	ENST00000542236.1	+	3	591	c.210C>T	c.(208-210)ctC>ctT	p.L70L	BBS12_ENST00000314218.3_Silent_p.L70L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	70					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GACAACTTCTCAATGAAGCAG	0.363000									Bardet-Biedl syndrome				10	34					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476400	228476400	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:228476400G>A	ENST00000570156.2	+	43	11511	c.11437G>A	c.(11437-11439)Gag>Aag	p.E3813K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E3384K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3384K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E503K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2231K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E503K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2849	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCGGTGTGAGCTGAGCAA	0.617000													13	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404840	179404840	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179404840C>T	ENST00000589042.1	-	351	98277	c.98053G>A	c.(98053-98055)Gag>Aag	p.E32685K	TTN_ENST00000591111.1_Missense_Mutation_p.E31044K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23620K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30117K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23745K|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23812K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31044	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E30115*(1)|p.E30117*(1)|p.E23620*(1)|p.E23812*(1)|p.E23745*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCAGGCTCACCAGGTCCA	0.458000													8	66					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144408499	144408499	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:144408499C>T	ENST00000523676.1	-	5	487	c.82G>A	c.(82-84)Gag>Aag	p.E28K	TOP1MT_ENST00000521193.1_Missense_Mutation_p.E28K|TOP1MT_ENST00000519148.1_Missense_Mutation_p.E28K|TOP1MT_ENST00000329245.4_Missense_Mutation_p.E126K			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	126					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACTTCCCTCTCTTCCACCGCC	0.552000													16	99					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33764584	33764584	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:33764584G>A	ENST00000539719.1	+	9	1370	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	ZNF362_ENST00000373428.5_Silent_p.V400V	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCACCTGGTGAGCCATCACT	0.632000											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	42					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45028906	45028906	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:45028906G>A	ENST00000559390.1	+	2	932	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TRIM69_ENST00000329464.4_Missense_Mutation_p.E2K|TRIM69_ENST00000338264.4_Missense_Mutation_p.E2K|TRIM69_ENST00000561043.1_Missense_Mutation_p.E2K|TRIM69_ENST00000558329.1_5'UTR|TRIM69_ENST00000560442.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	2	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGCTTCATGGAGGTGAGTGA	0.483000													5	14					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757580	60757580	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:60757580G>A	ENST00000303375.5	+	15	2750	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	783	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GACGACATCCGAGGCTGTGCG	0.642000													12	7					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31916609	31916609	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:31916609C>T	ENST00000556679.1	+	20	2600	c.2545C>T	c.(2545-2547)Cac>Tac	p.H849Y	CFB_ENST00000456570.1_Missense_Mutation_p.H849Y|CFB_ENST00000477310.1_Missense_Mutation_p.H698Y|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Missense_Mutation_p.H347Y			P00751	CFAB_HUMAN	complement factor B	347					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCCACAGACCACAAGTTGAA	0.522000													13	19					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153609047	153609047	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:153609047G>C	ENST00000368694.3	+	2	295		c.e2-1		CHTOP_ENST00000495554.1_Splice_Site|CHTOP_ENST00000403433.1_Splice_Site	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GTTCTTTGTAGATTCTCGGGA	0.428000													29	31					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352680	92352680	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:92352680C>T	ENST00000276609.3	+	8	1166	c.927C>T	c.(925-927)atC>atT	p.I309I	SLC26A7_ENST00000523719.1_Silent_p.I309I|SLC26A7_ENST00000309536.2_Silent_p.I309I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	309						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTGCGGTGATCACTGAAGCTT	0.448000													6	42					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766463	88766463	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:88766463G>C	ENST00000497649.2	+	6	749	c.371G>C	c.(370-372)aGa>aCa	p.R124T	MEPE_ENST00000560249.1_Missense_Mutation_p.R35T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.R148T|MEPE_ENST00000395102.4_Missense_Mutation_p.R179T|MEPE_ENST00000540395.1_Missense_Mutation_p.R35T|MEPE_ENST00000424957.3_Missense_Mutation_p.R148T			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	148					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GCTCTCATCAGAAATAACATG	0.408000													7	29					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159889505	159889505	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:159889505C>T	ENST00000368097.4	-	3	611	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TAGLN2_ENST00000368096.1_Missense_Mutation_p.E122K|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E101K	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	101	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATAGCGCTCAGCTGCTTGC	0.587000													69	63					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	101					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477159	128477159	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:128477159G>A	ENST00000322313.4	-	16	2598	c.2440C>T	c.(2440-2442)Cac>Tac	p.H814Y		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	814					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTGGAGGGTGAGGTCCTCTC	0.627000													8	13					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481247	142481247	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:142481247C>T	ENST00000603901.1	+	0	321					NR_001296.3																						TGAACAATGACATCATGCTGA	0.522000													13	66					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49959942	49959942	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49959942C>T	ENST00000550165.1	-	4	333	c.67G>A	c.(67-69)Gag>Aag	p.E23K	MCRS1_ENST00000357123.4_Missense_Mutation_p.E36K|MCRS1_ENST00000343810.4_Missense_Mutation_p.E23K|MCRS1_ENST00000546244.1_Intron			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	23	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TCCTCATCCTCTGAGCGGCTG	0.577000													15	26					0	0	1	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434677	3434677	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:3434677G>A	ENST00000396852.4	-	6	1323	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.S127L|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.S339L|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.S50L|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.S339L|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.S50L|NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.S127L	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1			zinc finger and SCAN domain containing 32									p.S127*(1)									CCAGGAGCCTGAAAGAGCATT	0.507000													41	77					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394116	154394116	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:154394116C>T	ENST00000435029.4	+	1	857	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	233	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCAGCTTTCGCTCCAAGCT	0.453000													10	80					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156533448	156533448	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:156533448G>A	ENST00000361170.2	-	7	526	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	172					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATGTTGCTGAGTTCCTCAG	0.602000													5	4					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128971195	128971195	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:128971195C>T	ENST00000314797.6	+	3	266	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	54					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TTCTTTATCTCATAAACCAGG	0.468000													11	44					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40714982	40714982	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:40714982C>T	ENST00000298910.7	+	35	5220	c.5162C>T	c.(5161-5163)tCa>tTa	p.S1721L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1721					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACATGCTTTCAGGGAGAGGT	0.299000													12	33					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349240	79349240	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:79349240G>A	ENST00000233735.1	+	4	413	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	104	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGGCCTCCATGACCCCAAAAA	0.488000													15	40					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426927	111426927	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:111426927G>A	ENST00000393934.3	+	2	888	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PLCXD2_ENST00000477665.1_Silent_p.L106L	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	106	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GAGAACAGCTGGAAGCTGGGA	0.507000													26	49					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102265222	102265222	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:102265222G>C	ENST00000370345.3	-	10	1172	c.1075C>G	c.(1075-1077)Ctc>Gtc	p.L359V	SEC31B_ENST00000451524.1_Missense_Mutation_p.L359V	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	359					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGTGGTGGGAGAGGCTGGCCT	0.517000													8	68					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5560741	5560741	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:5560741C>T	ENST00000379019.4	-	7	598	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	129					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTCAGTCTGACATGTCAGCCA	0.299000													12	21					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774787	183774787	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:183774787G>A	ENST00000318351.1	+	5	548	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	172						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTCCCTTTTGACCAACAGAA	0.438000													37	128					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99047939	99047939	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:99047939G>A	ENST00000254898.5	+	19	3104	c.2873G>A	c.(2872-2874)tGa>tAa	p.*958*	MATN2_ENST00000521689.1_Silent_p.*938*|MATN2_ENST00000522025.2_Silent_p.*673*|MATN2_ENST00000524308.1_Silent_p.*916*|MATN2_ENST00000520016.1_Silent_p.*957*|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	0						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGATACAGATGAAGATTAGAA	0.363000													4	2					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39833222	39833222	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:39833222C>A	ENST00000309060.3	-	4	750	c.335G>T	c.(334-336)aGt>aTt	p.S112I	ZHX3_ENST00000560361.1_Missense_Mutation_p.S112I|ZHX3_ENST00000544979.2_Missense_Mutation_p.S112I|ZHX3_ENST00000557816.1_Missense_Mutation_p.S112I|ZHX3_ENST00000432768.2_Missense_Mutation_p.S112I|ZHX3_ENST00000558993.1_Missense_Mutation_p.S112I|ZHX3_ENST00000540170.1_Missense_Mutation_p.S112I|ZHX3_ENST00000559234.1_Missense_Mutation_p.S112I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	112					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTGCACCCACTGCATACAAA	0.483000													17	78					1.5739e-10	1.67578e-10	1	1	0
ZNF331	55422	broad.mit.edu	37	19	54081038	54081038	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:54081038G>A	ENST00000253144.9	+	7	2557	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	ZNF331_ENST00000512387.1_Silent_p.V408V|ZNF331_ENST00000449416.1_Silent_p.V408V|ZNF331_ENST00000513999.1_Silent_p.V408V|ZNF331_ENST00000411977.2_Silent_p.V408V|ZNF331_ENST00000511154.1_Silent_p.V408V|ZNF331_ENST00000511593.2_Silent_p.V408V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATACCGGGGTGAAACCCTATG	0.473000			T	?	follicular thyroid adenoma								3	16					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62614566	62614566	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:62614566G>A	ENST00000535781.1	+	2	349	c.238G>A	c.(238-240)Gag>Aag	p.E80K	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	80					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAATTACGATGAGGTGAGATG	0.532000													16	16					0	0	1	0	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89753522	89753522	+	RNA	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:89753522G>A	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA																							TAAGAATAGCGAGACTATGAG	0.343000													4	14					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100369086	100369086	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:100369086C>G	ENST00000281806.2	-	6	1067	c.753G>C	c.(751-753)aaG>aaC	p.K251N	MCHR2_ENST00000369212.2_Missense_Mutation_p.K251N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	251						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCAGCACCATCTTTGTCAACT	0.458000													28	53					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220316	18220316	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:18220316G>A	ENST00000406438.3	+	1	1693	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	405										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTCTCTAGAAGAATGCCCAAT	0.463000													22	22					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041315	42041315	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:42041315C>G	ENST00000372584.1	-	4	6121	c.5107G>C	c.(5107-5109)Gct>Cct	p.A1703P	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1703P|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1703P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1703P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1703					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCACTCTAGCTAGATCTTTC	0.557000													11	45					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903769	90903769	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:90903769G>A	ENST00000354377.3	+	4	892	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGACCCTATGAGTGCCCAGA	0.527000													14	13					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557058	95557058	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:95557058C>A	ENST00000371418.4	+	8	1432	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	LGI1_ENST00000542308.1_Missense_Mutation_p.P343H|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	391					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTCAGAACACCTCAGACACTC	0.413000													16	36					2.31682e-05	2.3639e-05	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653724	159653724	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:159653724C>G	ENST00000297267.9	+	11	2380	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C	FNDC1_ENST00000340366.6_Missense_Mutation_p.S664C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	727	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGGGATCATCTCGGCTGCTG	0.657000													6	23					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026404	27026404	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:27026404C>T	ENST00000354760.3	+	6	579	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	182	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTGGGGCTCTCATGCCCCGAC	0.587000													4	5					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140385	94140385	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:94140385G>T	ENST00000370244.1	-	4	390	c.102C>A	c.(100-102)ctC>ctA	p.L34L	BCAR3_ENST00000370243.1_Silent_p.L34L|BCAR3_ENST00000260502.6_Silent_p.L34L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	34					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GATGCTCAGCGAGAGGGGACC	0.532000													8	14					0.000274275	0.000278657	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573592	140573592	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140573592G>A	ENST00000239446.4	+	1	1651	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		489	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.672000													16	86					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32843883	32843883	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:32843883G>A	ENST00000311921.4	+	2	339	c.147G>A	c.(145-147)caG>caA	p.Q49Q	ZNF507_ENST00000544431.1_Silent_p.Q49Q|ZNF507_ENST00000355898.5_Silent_p.Q49Q	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATGTTATCCAGAAGTTAAGCA	0.373000													7	19					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39784230	39784230	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:39784230G>T	ENST00000564288.1	+	30	4665	c.3888G>T	c.(3886-3888)atG>atT	p.M1296I	MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301				TA -> LP (in Ref. 4; AAL39000).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512000													3	18					0.115264	0.115506	1	1	0
IFNGR1	3459	broad.mit.edu	37	6	137519210	137519210	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:137519210C>T	ENST00000367739.4	-	7	1549	c.1428G>A	c.(1426-1428)ttG>ttA	p.L476L	IFNGR1_ENST00000543628.1_Silent_p.L448L	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	476					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATAACCAATCAAGGACTCTT	0.398000													18	53					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120395873	120395873	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:120395873G>C	ENST00000602047.1	+	21	2267	c.1155G>C	c.(1153-1155)ctG>ctC	p.L385L	PCDP1_ENST00000413369.3_Silent_p.L671L			Q4G0U5	PCDP1_HUMAN		671						cilium	calmodulin binding					Colorectal(110;0.196)					TGCATCCTCTGACCTATGCAG	0.453000													24	80					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640129	104640129	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:104640129C>T	ENST00000315264.7	+	9	1915	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	KIF26A_ENST00000423312.2_Missense_Mutation_p.P652S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	652	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCTGGGGGTCCCCTGTGTCT	0.692000													13	7					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148568538	148568538	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:148568538C>A	ENST00000340855.6	-	8	1307	c.1098G>T	c.(1096-1098)agG>agT	p.R366S	IDS_ENST00000537071.1_Intron|IDS_ENST00000422081.2_Missense_Mutation_p.R155S|IDS_ENST00000541269.1_Missense_Mutation_p.R155S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	366						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTGAAGCCGTCCTTCCAGGAA	0.478000													7	37					1.12685e-05	1.15842e-05	1	1	0
TRAV1-1	28693	broad.mit.edu	37	14	22090581	22090581	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:22090581C>T	ENST00000542354.1	+	0	253																											ACCCACATTTCTTTCTTACAA	0.478000													22	81					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157361625	157361625	+	Silent	SNP	C	C	T	rs144485708		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:157361625C>T	ENST00000389413.3	-	20	2887	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L	PTPRN2_ENST00000404321.2_Silent_p.L980L|PTPRN2_ENST00000389418.4_Silent_p.L957L|PTPRN2_ENST00000409483.1_Silent_p.L919L|PTPRN2_ENST00000389416.4_Silent_p.L940L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	957	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCATGTCGATCAGGACGTAGG	0.572000													19	67					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46663621	46663621	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:46663621C>G	ENST00000544460.1	+	2	6364	c.6110C>G	c.(6109-6111)tCa>tGa	p.S2037*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.S2037*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	2037	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTGTGTGGTCAAGTCTAAGA	0.363000													25	71					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19750807	19750807	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:19750807C>G	ENST00000332710.4	+	4	583	c.454C>G	c.(454-456)Ccc>Gcc	p.P152A	TBX1_ENST00000329705.7_Missense_Mutation_p.P152A|TBX1_ENST00000359500.3_Missense_Mutation_p.P152A	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	152					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGGCATGGATCCCATGGCCGA	0.617000													16	18					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275657	54275657	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:54275657G>C	ENST00000354646.2	-	17	3562	c.3124C>G	c.(3124-3126)Caa>Gaa	p.Q1042E	WNK3_ENST00000375169.3_Missense_Mutation_p.Q1042E|WNK3_ENST00000375159.2_Missense_Mutation_p.Q1042E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1042					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATAAGGTTTGAGGCTTTTGA	0.443000													8	54					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119350	93119350	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:93119350G>A	ENST00000216487.7	+	6	2115	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	652	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCAGCTCAAGAGCTACCTGC	0.637000													10	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469882	179469882	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179469882C>G	ENST00000589042.1	-	280	54246	c.54022G>C	c.(54022-54024)Gaa>Caa	p.E18008Q	TTN_ENST00000591111.1_Missense_Mutation_p.E16367Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8943Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15440Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9068Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9135Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16367	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGTTTTTCAATTACAGTT	0.468000													9	35					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108276096	108276096	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:108276096G>C	ENST00000295746.8	-	17	2255	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L568V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	727						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTTTGTCAGTATTTCATGT	0.378000													6	53					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102482544	102482544	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:102482544C>G	ENST00000260228.2	-	3	477	c.465G>C	c.(463-465)ctG>ctC	p.L155L	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	155					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TGACAAAGCTCAGAGGGACGG	0.438000													10	38					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433466	73433466	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:73433466C>T	ENST00000263666.4	-	10	2365	c.2251G>A	c.(2251-2253)Gac>Aac	p.D751N	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D408N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D473N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D468N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D408N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	751							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGTCCTTGTCGGATTTCTCC	0.617000													13	8					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511563	61511563	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:61511563C>G	ENST00000266070.4	-	16	6070	c.5745G>C	c.(5743-5745)caG>caC	p.Q1915H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1915H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1915	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTCCTCTCTGACCTCCAA	0.637000													28	36					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028545	150028545	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:150028545C>T	ENST00000394243.1	+	3	1814	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	SYNPO_ENST00000307662.4_Silent_p.V236V|SYNPO_ENST00000519664.1_Silent_p.V236V|SYNPO_ENST00000522122.1_Silent_p.V480V	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	480					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCAGTGGTCAACAGGACGG	0.612000													36	30					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671731	238671731	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:238671731G>C	ENST00000244815.5	+	10	1543	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E459Q|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E403Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	459					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ATGTATGGTAGAGGTCCCCCA	0.507000													5	22					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48320493	48320493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:48320493C>T	ENST00000297423.4	+	7	1231	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	SPIDR_ENST00000518074.1_Nonsense_Mutation_p.Q223*|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Q213*	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		GTGGAGACATCAATGTATTTC	0.318000													13	19					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183584842	183584842	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:183584842G>C	ENST00000264065.7	+	4	728	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	DNAJC10_ENST00000537515.1_Missense_Mutation_p.E105Q|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAAGGGACTTGAGGATAATCA	0.323000													27	39					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14211652	14211652	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:14211652C>T	ENST00000308677.4	-	5	601	c.405G>A	c.(403-405)cgG>cgA	p.R135R	PRKACA_ENST00000589994.1_Silent_p.R127R|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	135	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						ACCTTCCGATCCGCCGTAGGT	0.602000													6	8					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016797	1016797	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:1016797G>C	ENST00000421673.2	-	31	6054	c.6004C>G	c.(6004-6006)Cag>Gag	p.Q2002E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2002	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGTGGTCTGAGGGTGTGAT	0.537000													22	899					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109247244	109247244	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:109247244A>G	ENST00000220849.5	-	5	516	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	EIF3E_ENST00000519030.1_Missense_Mutation_p.Y59H	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	152	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CTAAAAAAATAAAGATATTCT	0.294000													14	39					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395552	74395552	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:74395552G>C	ENST00000319380.7	-	9	1670	c.1606C>G	c.(1606-1608)Cga>Gga	p.R536G		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	536							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAAGTCTCGAGTGATTTTA	0.557000													45	45					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152108121	152108121	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:152108121G>C	ENST00000331426.5	-	4	524	c.373C>G	c.(373-375)Cta>Gta	p.L125V		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	125							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGAGTTTCTAGAGTAACTTCT	0.378000													20	53					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130147	187130147	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:187130147G>A	ENST00000378802.4	+	9	1523	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	407					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TGAAGATTGTGAAGTGGGTAA	0.413000													10	43					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201027589	201027589	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:201027589C>G	ENST00000362061.3	-	28	3782	c.3556G>C	c.(3556-3558)Gac>Cac	p.D1186H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1186H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1186					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCAGGAAGTCAAACACATTC	0.547000													8	73					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	977542	977542	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:977542G>C	ENST00000537687.1	+	9	3293	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.E969Q|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.E183Q|WNK1_ENST00000315939.6_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGATACCTGAACAGAAGCC	0.468000													9	10					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999200	127999200	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:127999200C>T	ENST00000324460.6	-	8	1839	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	546					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GCAAACTTCTCAGCATCATTA	0.403000										Prostate(1;0.17)			33	61					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958807	24958807	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:24958807C>T	ENST00000289968.6	-	14	1306	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E413K	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	413	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACTTACCCTTCATTTCTGGCC	0.408000													21	41					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146673525	146673525	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:146673525G>A	ENST00000392299.2	+	5	1796	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	GRM1_ENST00000507907.1_Missense_Mutation_p.M442I|GRM1_ENST00000282753.1_Missense_Mutation_p.M442I|GRM1_ENST00000355289.4_Missense_Mutation_p.M442I|GRM1_ENST00000492807.2_Missense_Mutation_p.M442I|GRM1_ENST00000361719.2_Missense_Mutation_p.M442I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	442					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCGATGCCATGAAGCCCATCG	0.552000													14	84					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9009156	9009156	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:9009156C>G	ENST00000344836.4	-	10	1231	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	USP7_ENST00000535863.1_Missense_Mutation_p.E246Q|USP7_ENST00000381886.4_Missense_Mutation_p.E329Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	345					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TAATAATCTTCTCTTCTATCA	0.308000													8	85					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316318	46316318	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:46316318G>C	ENST00000465950.1	-	4	4437	c.3228C>G	c.(3226-3228)atC>atG	p.I1076M	SCAF11_ENST00000549162.1_Missense_Mutation_p.I1199M|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Missense_Mutation_p.I1391M|SCAF11_ENST00000419565.2_Missense_Mutation_p.I1391M			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1391					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						AAAATGGCTTGATGGCCAATT	0.328000													17	29					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704841	40704841	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:40704841G>A	ENST00000372771.4	+	8	4494	c.4467G>A	c.(4465-4467)agG>agA	p.R1489R		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1489					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GACTACTAAGGAGTGAAAAGG	0.373000													15	50					0	0	1	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782846	27782846	+	Missense_Mutation	SNP	C	C	T	rs141452609	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:27782846C>T	ENST00000359465.4	+	1	25	c.25C>T	c.(25-27)Cca>Tca	p.P9S		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CAAATCTGCTCCAGTCCCTAA	0.428000													37	37					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443615	56443615	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:56443615C>T	ENST00000588751.1	-	1	87	c.63G>A	c.(61-63)ctG>ctA	p.L21L	NLRP13_ENST00000342929.3_Silent_p.L21L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	21	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAGGGCCATCAGGTAAGGCA	0.542000													11	38					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63927922	63927922	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:63927922G>C	ENST00000260118.6	-	9	1328	c.926C>G	c.(925-927)tCt>tGt	p.S309C		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	309	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CTGAAATGAAGAAATATTTCC	0.299000													4	30					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222732047	222732047	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:222732047C>T	ENST00000350027.4	-	11	1461	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	TAF1A_ENST00000366890.1_Missense_Mutation_p.M322I|TAF1A_ENST00000391882.1_Missense_Mutation_p.M322I|TAF1A_ENST00000352967.4_Missense_Mutation_p.M436I	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	436					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CAGATCTCTTCATCCGCTTAA	0.299000													12	63					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254927	16254927	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:16254927G>A	ENST00000259727.4	+	4	540	c.426G>A	c.(424-426)gtG>gtA	p.V142V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	142					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TGGAATTCGTGAAACTTGTCC	0.448000													54	41					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100353572	100353572	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:100353572G>C	ENST00000259365.4	+	9	1083		c.e9-1		TMOD1_ENST00000395211.2_Splice_Site|TMOD1_ENST00000375175.1_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CTTGACTAAAGAGCCAGCCCC	0.413000													15	9					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153045	4153045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:4153045G>T	ENST00000404826.2	+	24	3698	c.3559G>T	c.(3559-3561)Gag>Tag	p.E1187*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.E1187*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1187	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACTGCCAGTGAGACCAGCCT	0.662000													39	67					2.46787e-29	2.66329e-29	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56031260	56031260	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:56031260G>C	ENST00000309675.2	+	1	617	c.585G>C	c.(583-585)agG>agC	p.R195S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGAAGCACAGGAGCGAGATCT	0.532000													25	31					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752202	2752202	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:2752202C>T	ENST00000312371.4	+	7	1555	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	396							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCTCCGCTGCCACCTGGGGGC	0.677000													10	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454071	179454071	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179454071C>G	ENST00000589042.1	-	304	62605	c.62381G>C	c.(62380-62382)aGa>aCa	p.R20794T	TTN_ENST00000591111.1_Missense_Mutation_p.R19153T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11729T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18226T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11854T|TTN_ENST00000342175.6_Missense_Mutation_p.R11921T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19153	Fibronectin type-III 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTTGCCTCTAACCCCTGC	0.453000													20	42					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67762389	67762389	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:67762389C>G	ENST00000317506.3	-	11	1493	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	RANBP10_ENST00000602677.1_Missense_Mutation_p.E490Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.E373Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.E434Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.E231Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	460										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGTGCTCTGCCTCCATC	0.587000													13	17					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111437634	111437634	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:111437634C>G	ENST00000271324.5	+	5	492	c.380C>G	c.(379-381)tCa>tGa	p.S127*	CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	127					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CGTTACCACTCAGACAATAGC	0.502000													14	33					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103371487	103371487	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:103371487G>A	ENST00000331272.7	-	8	1635	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	339					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GGCAGTACAGGGTGCTGTCGT	0.602000													5	12					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:38859417C>T	ENST00000264651.2	-	1	585	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	177	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458000													55	47					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134898367	134898367	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:134898367G>A	ENST00000607359.1	+	8	1429	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	225						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAGCCTCCCTGAGGAGGAAGG	0.637000													6	23					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197636626	197636626	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:197636626G>C	ENST00000263956.3	-	15	2195	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	702						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAATGTTCCAGAGCTGGGGTT	0.383000													14	33					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56921890	56921890	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:56921890G>A	ENST00000438926.2	+	18	2261	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K	SLC12A3_ENST00000262502.5_Silent_p.K743K|SLC12A3_ENST00000563236.1_Silent_p.K744K|SLC12A3_ENST00000566786.1_Silent_p.K743K	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	744					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGTTCAAGAAGAACTGGCAGT	0.597000													6	28					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3078210	3078210	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:3078210G>A	ENST00000573514.1	-	8	2993	c.803C>T	c.(802-804)tCc>tTc	p.S268F	CCDC64B_ENST00000572449.1_Missense_Mutation_p.S475F|CCDC64B_ENST00000389347.4_Missense_Mutation_p.S475F			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	475										breast(1)|endometrium(2)|large_intestine(1)	4						CGACGACGCGGAGGCGCTCAG	0.731000													4	12					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816339	38816339	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:38816339C>G	ENST00000476049.1	-	3	387	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	KRT222_ENST00000394052.3_Missense_Mutation_p.E116Q			Q8N1A0	KT222_HUMAN	keratin 222	116						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGCTGCTTTTCGATGCCGCGC	0.473000													50	39					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984665	104984665	+	Silent	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:104984665T>C	ENST00000372582.1	+	8	1785	c.1029T>C	c.(1027-1029)agT>agC	p.S343S	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.S343S	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	343	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACATGCCAGTGTTTTGCTGC	0.368000													20	50					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69390915	69390915	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:69390915C>G	ENST00000254942.3	-	10	1531	c.1515G>C	c.(1513-1515)caG>caC	p.Q505H	TERF2_ENST00000603068.1_Missense_Mutation_p.Q463H	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	463					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCCCATATTTCTGCACTCCAG	0.428000													12	60					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23397735	23397735	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:23397735G>A	ENST00000400181.4	+	13	1535	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	KDM1A_ENST00000356634.3_Silent_p.E453E|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.E477E	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	453	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATTTGAAAGAGAAAATTAAAG	0.363000													10	36					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129317506	129317506	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:129317506C>T	ENST00000393232.1	+	4	490	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	NRF1_ENST00000393230.2_Missense_Mutation_p.R125C|NRF1_ENST00000223190.4_Missense_Mutation_p.R125C|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000353868.4_Missense_Mutation_p.R125C|NRF1_ENST00000393231.3_Missense_Mutation_p.R125C|NRF1_ENST00000311967.2_Missense_Mutation_p.R125C	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	125					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATATACTACTCGTGTGGGACA	0.403000													44	175					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909745	32909745	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:32909745G>A	ENST00000304056.4	-	4	1783	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	362										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGGGTCTTTGGAAACCAGGTA	0.393000													48	76					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673161	125673161	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:125673161G>A	ENST00000373659.3	-	2	1279	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AGTGCTTTTTGAGAGCAGACT	0.428000													8	49					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371928	126371928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:126371928C>T	ENST00000394329.3	+	9	9770	c.9757C>T	c.(9757-9759)Caa>Taa	p.Q3253*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1551*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3253	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q3253E(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATAACCACTCAAGGCTTCTT	0.438000													15	52					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764092	140764092	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140764092C>T	ENST00000518325.1	+	1	1626	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCCTCTCAGCAGCAACA	0.557000													35	55					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237969511	237969511	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:237969511C>T	ENST00000366574.2	+	99	14543	c.14226C>T	c.(14224-14226)caC>caT	p.H4742H	RYR2_ENST00000360064.6_Silent_p.H4748H|RYR2_ENST00000542537.1_Silent_p.H4726H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4742					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCCGCTCACCTTCTCGACA	0.408000													3	29					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39137060	39137060	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:39137060C>G	ENST00000377755.4	-	5	986	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	KRT40_ENST00000398486.2_Missense_Mutation_p.E318Q			Q6A162	K1C40_HUMAN	keratin 40	318	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GCTTGGAGCTCAATTTCCAGA	0.547000													24	102					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84894931	84894931	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:84894931G>A	ENST00000403245.3	-	13	1751	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S470F|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	546					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATTGGAGGTAGAAATCGATCT	0.338000													11	27					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97165167	97165167	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:97165167G>C	ENST00000310865.3	-	0	771									neuralized E3 ubiquitin protein ligase 3																		TGGGTGTTGGGAGCCGGCTGG	0.642000													5	21					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31543047	31543047	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:31543047G>A	ENST00000380473.3	+	6	685	c.672G>A	c.(670-672)ctG>ctA	p.L224L	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	224																	ACAGCTACCTGAGGAACCAAG	0.458000													7	25					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123778075	123778075	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:123778075C>G	ENST00000321355.2	+	1	967	c.937C>G	c.(937-939)Cca>Gca	p.P313A		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCTTTATCTCCAGGATAAAT	0.279000													3	12					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111273	23111273	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:23111273G>C	ENST00000400191.3	+	3	533	c.515G>C	c.(514-516)aGc>aCc	p.S172T	EPHB2_ENST00000374632.3_Missense_Mutation_p.S172T|EPHB2_ENST00000374627.1_Missense_Mutation_p.S166T|EPHB2_ENST00000544305.1_Missense_Mutation_p.S172T|EPHB2_ENST00000374630.3_Missense_Mutation_p.S172T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	172					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGTCCCGCAGCGGCTTCTAC	0.622000													4	9					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201354909	201354909	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:201354909C>T	ENST00000391967.2	-	4	1352	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	LAD1_ENST00000367313.3_Missense_Mutation_p.E365K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	351						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ATATCTGCCTCTTCCTCCTTG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	63					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542637	32542637	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:32542637G>T	ENST00000360538.2	-	3	2002	c.1886C>A	c.(1885-1887)tCc>tAc	p.S629Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.S564Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	629	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTGCTTCTGGATCGTTTACT	0.413000													33	132					9.04072e-19	9.72361e-19	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112614424	112614424	+	Silent	SNP	G	G	A	rs151318870		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:112614424G>A	ENST00000341068.3	-	12	2170	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	466					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AACCAAAGATGAGCTGGGTTT	0.358000													11	20					0	0	1	0	0
IL18BP	10068	broad.mit.edu	37	11	71712863	71712863	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:71712863G>A	ENST00000404792.1	+	5	1463	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	IL18BP_ENST00000260049.5_Missense_Mutation_p.E181K|IL18BP_ENST00000337131.5_Missense_Mutation_p.E181K|IL18BP_ENST00000393705.4_Missense_Mutation_p.E181K|IL18BP_ENST00000393707.4_Missense_Mutation_p.R90K|IL18BP_ENST00000497194.2_3'UTR|IL18BP_ENST00000393703.4_Missense_Mutation_p.E181K	NM_005699.3|NM_173042.2	NP_005690.2|NP_766630.2	O95998	I18BP_HUMAN	interleukin 18 binding protein	181					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCCACCCAAGAAGCCCTGCC	0.602000													7	8					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193066729	193066729	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:193066729C>T	ENST00000367440.3	-	3	823	c.348G>A	c.(346-348)atG>atA	p.M116I	GLRX2_ENST00000367439.3_Missense_Mutation_p.M115I|GLRX2_ENST00000472197.1_5'UTR	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	115	Glutaredoxin.				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	TTTCACCAGTCATTTTGTAAA	0.393000													6	36					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132967087	132967087	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:132967087G>C	ENST00000275216.1	-	1	55	c.56C>G	c.(55-57)tCa>tGa	p.S19*		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	19						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GACATCATTTGACCAGTTGTT	0.378000													51	119					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18933032	18933032	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:18933032C>G	ENST00000284878.7	+	5	1332	c.584C>G	c.(583-585)tCt>tGt	p.S195C	CXADR_ENST00000306618.10_Intron|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.S195C	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	195	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATGACTTCATCTGTTATATCT	0.368000													11	39					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74865189	74865189	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:74865189G>A	ENST00000241436.4	+	4	452	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.E94K|POLK_ENST00000504026.1_Missense_Mutation_p.E94K|POLK_ENST00000508526.1_Missense_Mutation_p.E94K|POLK_ENST00000352007.5_Missense_Mutation_p.E94K|POLK_ENST00000380481.3_Missense_Mutation_p.E4K	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	94					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AATGGAATTAGAACAAAGCCG	0.323000								DNA polymerases (catalytic subunits)					15	46					0	0	1	0	0
RP5-1063M23.2	0	broad.mit.edu	37	12	3432571	3432571	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:3432571G>C	ENST00000432994.2	+	0	1066																											CCGCTCAGATGAGGATGCAGG	0.642000													13	27					0	0	1	0	0
TMA7	51372	broad.mit.edu	37	3	48482013	48482013	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:48482013G>C	ENST00000438607.2	+	3	175	c.135G>C	c.(133-135)gcG>gcC	p.A45A	RP11-24C3.2_ENST00000438872.1_RNA	NM_015933.3	NP_057017.1			translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						AGCTAAAAGCGAAGGCCGCGG	0.567000													3	10					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113332689	113332689	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:113332689G>C	ENST00000263331.5	+	15	3371	c.2791G>C	c.(2791-2793)Gag>Cag	p.E931Q	POLR1B_ENST00000409894.3_Missense_Mutation_p.E748Q|POLR1B_ENST00000541869.1_Missense_Mutation_p.E969Q|POLR1B_ENST00000417433.2_Missense_Mutation_p.E875Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.E720Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	931					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GATGTTAATTGAGAGTATGGC	0.502000													19	54					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434389	121434389	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:121434389G>A	ENST00000257555.6	+	6	1379	c.1153G>A	c.(1153-1155)Gca>Aca	p.A385T	HNF1A_ENST00000402929.1_Missense_Mutation_p.A385T|HNF1A_ENST00000400024.2_Missense_Mutation_p.A385T|HNF1A_ENST00000544413.1_Missense_Mutation_p.A385T|HNF1A_ENST00000543427.1_Missense_Mutation_p.A268T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.A385T			P20823	HNF1A_HUMAN	HNF1 homeobox A	385					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCCTGACAGCACTGCACAG	0.672000									Hepatic Adenoma, Familial Clustering of				3	15					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775567	231775567	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:231775567G>C	ENST00000392040.1	-	2	303	c.111C>G	c.(109-111)ctC>ctG	p.L37L	GPR55_ENST00000392039.2_Silent_p.L37L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	37					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCAGCAGGTTGAGGAGCAGGC	0.542000													17	33					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56082770	56082770	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:56082770C>G	ENST00000395471.3	-	7	1321	c.516G>C	c.(514-516)aaG>aaC	p.K172N	PSPH_ENST00000275605.3_Missense_Mutation_p.K172N|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	172					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATTATTTTCTTAAAATGAA	0.353000													11	41					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655994	40655994	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:40655994C>G	ENST00000406785.2	-	2	1616	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T	SLC8A1_ENST00000402441.1_Missense_Mutation_p.R476T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R476T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R476T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R476T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R476T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R476T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R476T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R476T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R476T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1		Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GATACCCACTCTGATTTCCTT	0.413000													16	41					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57085884	57085884	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:57085884C>G	ENST00000330619.8	+	4	868	c.182C>G	c.(181-183)tCa>tGa	p.S61*	ZNF470_ENST00000601902.1_Nonsense_Mutation_p.S61*|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.S61*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACCTAGTTTCAGTGGGTAAG	0.423000													8	74					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653652	159653652	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:159653652C>T	ENST00000297267.9	+	11	2308	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S640L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	703	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCCCATTCAGGGGCCGCA	0.682000													6	13					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69986862	69986862	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:69986862G>A	ENST00000543146.2	+	9	1198	c.716G>A	c.(715-717)gGa>gAa	p.G239E	CCT2_ENST00000544368.2_Missense_Mutation_p.G286E|CCT2_ENST00000299300.6_Missense_Mutation_p.G286E	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	286					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTTAAGCATGGAATAAATTGC	0.328000													7	31					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63294731	63294731	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:63294731G>C	ENST00000317868.4	+	7	1024	c.817G>C	c.(817-819)Gat>Cat	p.D273H	ATG4C_ENST00000371120.3_Missense_Mutation_p.D273H	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	273					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGATGTAATTGATAAACAGAG	0.308000													8	62					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1231917	1231917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:1231917C>T	ENST00000510568.1	-	2	807	c.216G>A	c.(214-216)tgG>tgA	p.W72*	CTBP1_ENST00000515690.1_Intron|CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000382952.3_Intron			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	0					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TCCCGTCCCTCCAACTCCCCC	0.692000													4	19					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561713	65561713	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:65561713G>A	ENST00000335987.3	+	2	664	c.312G>A	c.(310-312)aaG>aaA	p.K104K	OVOL1_ENST00000532448.1_Silent_p.K42K	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	104					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGCGCACCAAGATGAAGGTAA	0.622000													7	37					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26873030	26873030	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:26873030C>G	ENST00000398145.2	-	4	821	c.205G>C	c.(205-207)Gac>Cac	p.D69H	HPS4_ENST00000336873.5_Missense_Mutation_p.D69H|HPS4_ENST00000398141.1_Missense_Mutation_p.D64H|HPS4_ENST00000402105.3_Missense_Mutation_p.D64H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	69					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGAGGAGAGTCAGAAATGTCA	0.453000									Hermansky-Pudlak syndrome				6	34					0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116701556	116701556	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:116701556G>C	ENST00000375345.1	+	3	239	c.177G>C	c.(175-177)aaG>aaC	p.K59N	APOC3_ENST00000227667.3_Missense_Mutation_p.K41N|APOC3_ENST00000470144.1_3'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	41				QQA -> AQQ (in Ref. 8; AA sequence).	Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACGCCACCAAGACCGCCAAGG	0.642000													6	8					0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452382	76452382	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:76452382G>C	ENST00000311638.3	+	5	695	c.627G>C	c.(625-627)tgG>tgC	p.W209C	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.W167C|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.W209C|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	209						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTTCTGTTGGGACTGTTGTC	0.343000													15	51					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140051322	140051322	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:140051322C>T	ENST00000371561.3	+	6	1898	c.801C>T	c.(799-801)ctC>ctT	p.L267L	GRIN1_ENST00000371553.3_Silent_p.L288L|GRIN1_ENST00000371559.4_Silent_p.L267L|GRIN1_ENST00000371555.4_Silent_p.L288L|GRIN1_ENST00000315048.3_Silent_p.L267L|GRIN1_ENST00000371550.4_Silent_p.L267L|GRIN1_ENST00000371560.3_Silent_p.L288L|GRIN1_ENST00000350902.5_Silent_p.L267L|GRIN1_ENST00000471122.1_Intron|GRIN1_ENST00000371546.4_Silent_p.L288L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	267					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TAGGCATCCTCGGGCTGCAGC	0.687000													8	5					0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107361153	107361153	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:107361153C>G	ENST00000443043.1	+	3	879	c.204C>G	c.(202-204)ttC>ttG	p.F68L	C6orf203_ENST00000405204.2_Missense_Mutation_p.F63L|C6orf203_ENST00000311381.5_Missense_Mutation_p.F63L	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	63										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		ATAATATTTTCTCACTGAGAC	0.318000													28	112					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101256	25101256	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:25101256C>T	ENST00000216341.4	-	4	514	c.408G>A	c.(406-408)gtG>gtA	p.V136V	GZMB_ENST00000382542.1_Silent_p.V170V|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Silent_p.*91*|GZMB_ENST00000415355.3_Silent_p.V124V|GZMB_ENST00000382540.1_Silent_p.V91V			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	136	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCCCTGGCTTCACCTGGGCCT	0.602000													22	12					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636292	50636292	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:50636292G>A	ENST00000303434.4	+	8	831	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TRABD_ENST00000380909.4_Missense_Mutation_p.E238K|TRABD_ENST00000395829.1_Missense_Mutation_p.E238K|TRABD_ENST00000395827.1_Missense_Mutation_p.E238K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	238										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GGACCTACTGGAGCAGATGAT	0.642000													8	43					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44492001	44492001	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:44492001G>A	ENST00000425708.2	-	5	1099	c.758C>T	c.(757-759)tCt>tTt	p.S253F	ZNF445_ENST00000396077.2_Missense_Mutation_p.S253F			P59923	ZN445_HUMAN	zinc finger protein 445	253	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTCTGAGCAGAGTCCAGCCA	0.502000													15	35					0	0	1	0	0
TAF11	6882	broad.mit.edu	37	6	34846473	34846473	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:34846473C>T	ENST00000361288.4	-	5	661	c.530G>A	c.(529-531)gGa>gAa	p.G177E	TAF11_ENST00000420584.2_Missense_Mutation_p.E145K|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	177					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						TGGCATTTCTCCCCACTTCTC	0.398000													10	57					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	799519	799519	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:799519C>T	ENST00000347755.5	-	16	2662	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	PIDD_ENST00000411829.2_Missense_Mutation_p.E824K	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	841	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCCTGGCGCTCAGCCCAGGAG	0.667000													5	16					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814382	64814382	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:64814382C>T	ENST00000396679.1	-	11	944	c.730G>A	c.(730-732)Gag>Aag	p.E244K	CENPK_ENST00000510693.1_Missense_Mutation_p.E181K|CENPK_ENST00000242872.3_Missense_Mutation_p.E244K|CENPK_ENST00000508421.1_Missense_Mutation_p.E214K|CENPK_ENST00000514814.1_Missense_Mutation_p.E244K	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	244					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGCAGCAGCTCAACATAAGGT	0.348000													22	33					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105461075	105461075	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:105461075C>G	ENST00000549240.1	+	3	2039	c.231C>G	c.(229-231)ctC>ctG	p.L77L	C14orf79_ENST00000550614.1_Silent_p.L77L|C14orf79_ENST00000547315.1_Silent_p.L319L|C14orf79_ENST00000549584.1_Intron			Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	319										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			AACTGACACTCTTTAATAGCG	0.473000													23	24					0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133496770	133496770	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:133496770C>T	ENST00000353411.6	-	4	406	c.223G>A	c.(223-225)Gat>Aat	p.D75N	SKP1_ENST00000521216.1_Missense_Mutation_p.D75N|SKP1_ENST00000522855.1_Missense_Mutation_p.D75N|SKP1_ENST00000522552.1_Missense_Mutation_p.D75N|SKP1_ENST00000517625.1_Missense_Mutation_p.D75N	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	75					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTTCTCATCATCTTCAGGA	0.433000													8	40					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043804	108043804	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:108043804G>C	ENST00000278612.8	-	13	2012	c.1907C>G	c.(1906-1908)tCt>tGt	p.S636C	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	636	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAATCATTAGATGGTTGTTT	0.368000													8	36					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611218	62611218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:62611218G>C	ENST00000281156.4	-	5	820	c.542C>G	c.(541-543)tCa>tGa	p.S181*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGAGTCCTCTGAGCCATTTAA	0.393000													18	60					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627241	82627241	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:82627241C>T	ENST00000220669.5	-	4	265	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000519523.1_Missense_Mutation_p.E83K|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.E83K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	83							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AAATTCTTCTCACAATAAGGA	0.383000													7	46					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128013	152128013	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:152128013A>G	ENST00000316073.3	-	3	1626	c.1562T>C	c.(1561-1563)tTc>tCc	p.F521S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	521	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGAAACTCTGGCC	0.507000													9	745					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124800130	124800130	+	Missense_Mutation	SNP	G	G	A	rs140747102	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:124800130G>A	ENST00000358776.4	+	4	466	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ACADSB_ENST00000368869.4_Missense_Mutation_p.R49K|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	151					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACACTGATTAGAAAACATGGA	0.373000													8	37					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172196596	172196596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:172196596C>T	ENST00000239223.3	-	3	957	c.715G>A	c.(715-717)Gag>Aag	p.E239K	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	239	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TCAATGGCCTCGTTGAACCAG	0.498000													12	91					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81391457	81391457	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:81391457C>G	ENST00000568107.2	+	5	1056	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGTGCCCTCTCTATGACCCTA	0.448000													20	81					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121718011	121718011	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:121718011G>C	ENST00000393376.1	-	22	2638	c.2543C>G	c.(2542-2544)tCt>tGt	p.S848C	AASS_ENST00000417368.2_Missense_Mutation_p.S848C|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	848	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TAAATGTCCAGAAGGATGTCT	0.393000													116	171					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859345	38859345	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:38859345C>G	ENST00000264651.2	-	1	657	c.601G>C	c.(601-603)Gat>Cat	p.D201H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	201	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTTCTGAGATCTTCAATTATT	0.368000													25	30					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35261672	35261672	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:35261672G>A	ENST00000373953.3	+	12	1740	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Missense_Mutation_p.D466N	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	492					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGTCAGCGCCGATGGCACCCA	0.572000													7	29					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342731	94342731	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:94342731C>G	ENST00000436063.2	-	2	817	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E254Q(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTATTTATCTCAGAAAGAGAT	0.368000													9	58					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766419	20766419	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:20766419G>A	ENST00000359062.3	+	3	1094	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	352					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E352K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGTCATGGGCGAGGCCCACGG	0.532000													7	36					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74318274	74318274	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:74318274G>A	ENST00000395792.2	+	12	1685	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	AFP_ENST00000226359.2_Missense_Mutation_p.D529N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	529	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCTCTGATGACAAGTTCAT	0.468000									Alpha-Fetoprotein, Hereditary Persistence of				7	34					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954631	70954631	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:70954631C>T	ENST00000334414.6	-	17	4296	c.4252G>A	c.(4252-4254)Gac>Aac	p.D1418N	PTPRB_ENST00000451516.2_Missense_Mutation_p.D1110N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1417N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1330N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1110N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1200N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1110N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1200	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGTCAAAGTCCCCAGAGGCT	0.483000													7	42					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3297377	3297377	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:3297377G>A	ENST00000252032.9	-	18	1599	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	C20orf194_ENST00000453730.2_Missense_Mutation_p.S249F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	511										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AACCAGCCAGGAGCAGAATCT	0.527000													9	9					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19283028	19283028	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:19283028G>A	ENST00000538714.1	+	2	137	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E45K|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.E45K|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E45K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E45K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E45K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E45K|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E45K	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	45							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGTCACCGGCGAGGCGGTGGT	0.736000													3	4					0	0	1	0	0
ZNF580	51157	broad.mit.edu	37	19	56153912	56153912	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:56153912C>T	ENST00000543039.1	+	1	495	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Missense_Mutation_p.S13F|ZNF580_ENST00000325333.5_Missense_Mutation_p.S13F	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	13	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CACCCTCGGTCCTCCTCTCCG	0.682000													3	24					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2951870	2951870	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:2951870C>T	ENST00000396946.4	-	23	3483	c.3080G>A	c.(3079-3081)cGa>cAa	p.R1027Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1027	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTCTTCTCTCGGGAGTAGAT	0.592000			Mis		DLBCL								14	42					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996025	11996025	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:11996025A>T	ENST00000333796.3	-	1	561	c.245T>A	c.(244-246)cTc>cAc	p.L82H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	82					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CATATTCTGGAGCCCAGCCCC	0.572000													13	22					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159398603	159398603	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:159398603C>T	ENST00000367069.2	-	8	1860	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	RSPH3_ENST00000449822.1_Missense_Mutation_p.M312I|RSPH3_ENST00000252655.1_Missense_Mutation_p.M550I|RSPH3_ENST00000297262.3_Missense_Mutation_p.M454I			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	550										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGGACTTCCTCATTGCTGTTT	0.438000													42	99					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146865208	146865208	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:146865208C>G	ENST00000367495.3	+	1	380	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGGTCCTCAACTGGGACA	0.667000													8	18					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139195229	139195229	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:139195229C>A	ENST00000232217.2	-	1	129	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	25					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TCCTCCTTACCCAGGGCCTTC	0.552000													5	22					1.23904e-05	1.26965e-05	1	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37462900	37462900	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:37462900G>A	ENST00000381792.2	-	18	2422	c.2282C>T	c.(2281-2283)gCc>gTc	p.A761V	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A761V|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A748V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A739V			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	748	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCGGTAGCCGGCACACAGCAT	0.607000													3	19					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182343483	182343483	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:182343483G>C	ENST00000397033.2	+	5	986		c.e5-1		ITGA4_ENST00000478440.1_Splice_Site	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCATTTTAGATTATGTGAA	0.254000													5	19					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523412	49523412	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49523412C>T	ENST00000336023.5	-	2	191	c.97G>A	c.(97-99)Gat>Aat	p.D33N	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	33					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATCTGGCCATCGGGCTGGATG	0.612000													19	61					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717522	139717522	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:139717522C>T	ENST00000263552.6	+	16	1957	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	TBXAS1_ENST00000448866.1_Silent_p.F472F|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000416849.2_Silent_p.F519F|TBXAS1_ENST00000336425.5_Silent_p.F472F|TBXAS1_ENST00000436047.2_Silent_p.F473F|TBXAS1_ENST00000458722.1_Silent_p.F518F|TBXAS1_ENST00000425687.1_Silent_p.F405F|TBXAS1_ENST00000411653.1_Intron	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	472					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACCTGCCCTTCGGGGCCGGCC	0.682000													12	43					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108417567	108417567	+	Missense_Mutation	SNP	G	G	T	rs144018167		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:108417567G>T	ENST00000370056.4	-	2	551	c.277C>A	c.(277-279)Ctt>Att	p.L93I	VAV3_ENST00000527011.1_Missense_Mutation_p.L93I|VAV3_ENST00000371846.4_Missense_Mutation_p.L28I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	93	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCCTCGAAAAGTTCACTTTTC	0.358000													8	31					0.000157383	0.000160239	1	1	0
MNX1	3110	broad.mit.edu	37	7	156798481	156798481	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:156798481C>A	ENST00000252971.6	-	3	1239	c.939G>T	c.(937-939)caG>caT	p.Q313H	MNX1_ENST00000543409.1_Missense_Mutation_p.Q101H|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	313					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgccgcccTTCTGTTTCTCCG	0.692000													19	104					2.35188e-11	2.50973e-11	1	1	0
ZC2HC1A	51101	broad.mit.edu	37	8	79610720	79610720	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:79610720C>G	ENST00000263849.4	+	7	778	c.676C>G	c.(676-678)Cat>Gat	p.H226D		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	226																	ATCTCCCTCTCATAAAGGGAT	0.343000													24	42					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070037	73070037	+	RNA	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:73070037G>T	ENST00000429829.1	-	0	2551					NR_001564.2																						AAGGAAAATAGTTAAGTCAAT	0.313000													10	9					4.68919e-08	4.90514e-08	1	1	0
MYH7	4625	broad.mit.edu	37	14	23897789	23897789	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:23897789C>T	ENST00000355349.3	-	15	1660	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	500	Myosin head-like.		E -> A (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGTACTCCTCCTGCTCC	0.527000													12	51					0	0	1	0	0
SNORA76C	677842	broad.mit.edu	37	17	62223773	62223773	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:62223773C>T	ENST00000408535.2	+	0	75					NR_002995.1																						CATGTGCTTGCGCATAACTGG	0.637000													50	33					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659483	145659483	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145659483C>T	ENST00000409379.3	-	21	3294	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1089					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.E930K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCACCAGCTCAGCCACACAC	0.687000													4	16					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043387	7043387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:7043387C>A	ENST00000310085.4	-	1	1341	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	427										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAAAGTTCCTCATTTCGTTCC	0.458000													24	117					4.47668e-21	4.82571e-21	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8719950	8719950	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:8719950G>A	ENST00000378641.3	+	21	2726	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E751K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E751K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	751	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGTTTATGAAGAAGGAGG	0.418000													9	43					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:81111228G>A	ENST00000228644.3	+	1	538	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587000													23	44					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160638470	160638470	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:160638470C>T	ENST00000366953.3	-	11	1920	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L		NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	554					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTTCTTAGTTCAATGGAATGT	0.388000													3	26					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320151	38320151	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:38320151C>T	ENST00000379705.3	-	3	1677	c.820G>A	c.(820-822)Gac>Aac	p.D274N	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.D274N|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D274N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D274N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D274N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D274N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D274N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	274	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGACTATTGTCATCTCGGTAA	0.413000													26	84					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122762736	122762736	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:122762736G>C	ENST00000358808.2	-	23	4052	c.3898C>G	c.(3898-3900)Cag>Gag	p.Q1300E	CLIP1_ENST00000537178.1_Missense_Mutation_p.Q1265E|CLIP1_ENST00000540539.1_5'UTR|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q1300E|CLIP1_ENST00000540338.1_Missense_Mutation_p.Q1311E|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q886E|CLIP1_ENST00000361654.4_Missense_Mutation_p.Q1189E|CLIP1_ENST00000536634.1_5'UTR	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1311					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCGTCTGCCTGAGTGTCTGTA	0.348000													15	114					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784385	130784385	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:130784385C>T	ENST00000265909.4	-	1	2019	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E484K|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	484					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGATCCTTCTCTAAGCATGAC	0.542000													12	45					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81303956	81303956	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:81303956G>C	ENST00000258168.2	+	7	1497	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	BCMO1_ENST00000425577.2_Missense_Mutation_p.E277Q	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	346					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GGACTTCAAGGAGAACTCCAG	0.562000													7	38					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243787	141243787	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:141243787G>C	ENST00000287008.3	-	3	2256	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PCDH1_ENST00000536585.1_Missense_Mutation_p.I681M|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.I691M|PCDH1_ENST00000394536.3_Missense_Mutation_p.I703M|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	703	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCAGCACATTGATGGTGACAC	0.552000													25	29					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230673086	230673086	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:230673086C>G	ENST00000283943.5	-	15	2256		c.e15-1		TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCTGCAATGTCTGTAAAAACC	0.398000													14	31					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30987369	30987369	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:30987369C>T	ENST00000435645.1	+	0	502																											TTTACTGTCTCATGGATGACA	0.463000													14	24					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033777	79033777	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:79033777C>G	ENST00000446378.2	+	2	9220	c.9189C>G	c.(9187-9189)atC>atG	p.I3063M		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3063						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)		ATTATAACATCTCCCCAGACC	0.338000													3	48					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70550975	70550975	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:70550975G>C	ENST00000265872.6	+	25	3524	c.3405G>C	c.(3403-3405)aaG>aaC	p.K1135N	CCAR1_ENST00000543719.1_Missense_Mutation_p.K1120N|CCAR1_ENST00000535016.1_Missense_Mutation_p.K1120N	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1135					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATAATGTAAAGAATGAAGACA	0.274000													7	50					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123787	31123787	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:31123787G>A	ENST00000304166.4	+	7	649	c.360G>A	c.(358-360)gaG>gaA	p.E120E	ADCYAP1R1_ENST00000396211.2_Silent_p.E120E|ADCYAP1R1_ENST00000409363.1_Silent_p.E99E|ADCYAP1R1_ENST00000409489.1_Silent_p.E120E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	120					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACTGCACGGAGGATGGCTGGT	0.507000													11	17					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498891	61498891	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:61498891G>C	ENST00000424789.2	+	25	5552	c.5548G>C	c.(5548-5550)Gat>Cat	p.D1850H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.D1860H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1850							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGGGATCATAGATAAAACAGC	0.577000													25	27					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74481203	74481203	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:74481203C>G	ENST00000437994.2	+	15	2157	c.1726C>G	c.(1726-1728)Ctt>Gtt	p.L576V	CD109_ENST00000422508.2_Missense_Mutation_p.L499V|CD109_ENST00000287097.5_Missense_Mutation_p.L576V	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	576						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAAGTCTCTCTTAGGATCTC	0.353000													12	62					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92184931	92184931	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:92184931G>A	ENST00000212355.4	-	10	1969	c.1504C>T	c.(1504-1506)Ctg>Ttg	p.L502L	TGFBR3_ENST00000370399.2_Silent_p.L501L|TGFBR3_ENST00000525962.1_Silent_p.L502L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	502	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CAGCCATTCAGAGGAGACTCC	0.532000													13	48					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604652	57604652	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:57604652C>G	ENST00000243077.3	+	83	13372	c.12906C>G	c.(12904-12906)cgC>cgG	p.R4302R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4302	EGF-like 19.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGGCGACCGCTGCCAGTACC	0.662000													5	22					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18342046	18342046	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:18342046G>C	ENST00000251900.4	-	5	489	c.330C>G	c.(328-330)gtC>gtG	p.V110V		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	110					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V110V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGGGGAATCGACAAGCCTCC	0.418000													22	48					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39909602	39909602	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:39909602C>T	ENST00000325301.2	+	6	1090	c.666C>T	c.(664-666)gaC>gaT	p.D222D	MIEF1_ENST00000404569.1_Silent_p.D222D|MIEF1_ENST00000402881.1_Silent_p.D222D	NM_019008.4	NP_061881.2			mitochondrial elongation factor 1	222																	CTGGTGAAGACACCATCATGA	0.527000													22	25					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12433418	12433418	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:12433418G>C	ENST00000293725.5	-	2	316	c.111C>G	c.(109-111)atC>atG	p.I37M	ZNF563_ENST00000595977.1_Missense_Mutation_p.I37M	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCAGGTTCCTGATGGTTTCTT	0.408000													26	51					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257196	140257196	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140257196C>T	ENST00000398631.2	+	1	2139	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGCTCACGCTGCTGC	0.677000													9	40					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939751	939751	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:939751C>G	ENST00000265846.5	-	8	1002	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ADAP1_ENST00000539900.1_Missense_Mutation_p.K272N|ADAP1_ENST00000449296.2_Missense_Mutation_p.K189N	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	261	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TGGGCCCCGTCTTCTCCATGT	0.652000													40	60					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116199	42116199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:42116199G>T	ENST00000457542.2	+	29	4439	c.4153G>T	c.(4153-4155)Gag>Tag	p.E1385*	MAPKBP1_ENST00000456763.2_Nonsense_Mutation_p.E1391*|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.E1268*|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.E1224*|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1391								p.E1385K(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCACCCCCTGAGAAGACTCC	0.637000													19	27					1.67942e-08	1.76062e-08	1	1	0
CLC	1178	broad.mit.edu	37	19	40224976	40224976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:40224976G>A	ENST00000221804.4	-	3	325	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	84	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TGGCCATCCTGAAAGGGCATA	0.542000													9	42					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708363	13708363	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:13708363C>G	ENST00000265104.4	-	76	13311	c.13207G>C	c.(13207-13209)Gta>Cta	p.V4403L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4403					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGCTGAGTACCCTTTGCATT	0.478000									Kartagener syndrome				16	142					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30937180	30937180	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:30937180C>T	ENST00000338343.4	+	2	492	c.105C>T	c.(103-105)ttC>ttT	p.F35F	FBXL19_ENST00000380310.2_Silent_p.F55F|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Silent_p.F35F|FBXL19_ENST00000565690.1_Silent_p.F35F			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	55	Arg-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTGCCACTTCTGCCGAGACA	0.711000													3	7					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791992	42791992	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:42791992G>A	ENST00000572681.2	+	7	3591	c.3523G>A	c.(3523-3525)Gat>Aat	p.D1175N	CIC_ENST00000160740.3_Missense_Mutation_p.D266N|CIC_ENST00000575354.2_Missense_Mutation_p.D266N			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	266	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCCACCCAGATTGGAAGTG	0.637000			"""Mis, F, S"""		oligodendroglioma								3	10					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103868035	103868035	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:103868035C>G	ENST00000361198.5	-	11	1566	c.943G>C	c.(943-945)Ggg>Cgg	p.G315R	LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632000													5	27					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163136547	163136547	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:163136547C>G	ENST00000263642.2	-	8	1995	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	534					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGCATGGCTCCTGTATTTGG	0.338000													24	37					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41204656	41204656	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:41204656G>C	ENST00000399959.2	+	12	2025		c.e12-1		DDX3X_ENST00000542215.1_Splice_Site|DDX3X_ENST00000478993.1_Splice_Site|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Splice_Site	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTTCTTTCAGATGCTGGCTC	0.323000										HNSCC(61;0.18)			22	48					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13057601	13057601	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:13057601G>C	ENST00000506447.1	+	20	4206	c.4126G>C	c.(4126-4128)Gag>Cag	p.E1376Q	CEP192_ENST00000430049.2_Missense_Mutation_p.E901Q|CEP192_ENST00000325971.8_Missense_Mutation_p.E780Q	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	971										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCGAGTGCCCGAGGAGTTGAA	0.502000													7	22					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76841076	76841076	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:76841076C>G	ENST00000286733.4	-	8	1056	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	NAAA_ENST00000505594.1_Missense_Mutation_p.E218Q|NAAA_ENST00000399497.3_Missense_Mutation_p.E319Q|NAAA_ENST00000507956.1_Missense_Mutation_p.E319Q|NAAA_ENST00000511606.1_5'UTR	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	319					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAAGTGCCTCCAGGCTGAGG	0.443000													7	40					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538703	113538703	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:113538703A>T	ENST00000505019.1	-	6	2620	c.2495T>A	c.(2494-2496)cTa>cAa	p.L832Q	C4orf21_ENST00000445203.2_Missense_Mutation_p.L801Q|C4orf21_ENST00000309071.5_Missense_Mutation_p.L832Q	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	832										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTGTTCACATAGCGACTTTAA	0.373000													8	29					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20621513	20621513	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:20621513C>T	ENST00000202677.7	-	6	389	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGATTCCTTCACATCTTATC	0.383000													9	11					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29245120	29245120	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:29245120C>G	ENST00000379558.4	+	11	1808	c.1457C>G	c.(1456-1458)tCg>tGg	p.S486W	FAM179A_ENST00000403861.2_Missense_Mutation_p.S431W|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	486							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCTTTCTCGAACCCGGAG	0.572000													14	42					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579839	62579839	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:62579839G>C	ENST00000371158.2	+	35	4690	c.4576G>C	c.(4576-4578)Gag>Cag	p.E1526Q	INADL_ENST00000543708.1_Missense_Mutation_p.E340Q|INADL_ENST00000545929.1_Missense_Mutation_p.E171Q|INADL_ENST00000316485.6_Missense_Mutation_p.E1556Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1526					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTACCGGGATGAGGAGAACTT	0.582000													8	15					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175443099	175443099	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:175443099C>T	ENST00000296522.6	-	2	659	c.213G>A	c.(211-213)ctG>ctA	p.L71L	HPGD_ENST00000296521.7_Silent_p.L71L|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000504433.1_Silent_p.L71L|HPGD_ENST00000542498.1_Silent_p.L71L|HPGD_ENST00000541923.1_5'UTR|HPGD_ENST00000422112.2_Silent_p.L71L	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	71					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TCTTACCTCTCAGTTGTTGCT	0.552000													13	64					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939984	169939984	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:169939984G>T	ENST00000327239.4	+	6	1963	c.459G>T	c.(457-459)aaG>aaT	p.K153N	DHRS9_ENST00000602501.1_Missense_Mutation_p.K153N|DHRS9_ENST00000412271.1_Missense_Mutation_p.K153N|DHRS9_ENST00000421653.1_Missense_Mutation_p.K6N|DHRS9_ENST00000432060.2_Missense_Mutation_p.K213N|DHRS9_ENST00000357546.2_Missense_Mutation_p.K153N|DHRS9_ENST00000428522.1_Missense_Mutation_p.K153N|DHRS9_ENST00000436483.2_Missense_Mutation_p.K153N	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	153					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTTGGTCAAGAAAGCTCAAG	0.463000													13	54					6.31663e-08	6.57867e-08	1	1	0
HDAC1	3065	broad.mit.edu	37	1	32796439	32796439	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:32796439C>T	ENST00000373548.3	+	9	993	c.909C>T	c.(907-909)taC>taT	p.Y303Y	HDAC1_ENST00000373541.2_Silent_p.Y110Y|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	303	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GCGGTGGTTACACCATTCGTA	0.547000													6	9					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34759174	34759174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:34759174G>A	ENST00000374789.3	-	4	746	c.421C>T	c.(421-423)Cga>Tga	p.R141*	PARD3_ENST00000350537.4_Nonsense_Mutation_p.R141*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R141*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R141*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R141*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R141*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R141*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R141*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R141*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R141*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R141*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	141					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTACTGCGTCGAACATGAAGA	0.413000													22	48					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44289058	44289058	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:44289058C>G	ENST00000329255.3	-	3	995	c.892G>C	c.(892-894)Gag>Cag	p.E298Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	298					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGTAGTTCTCAGCTCGGGTG	0.642000													8	19					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40947030	40947030	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:40947030C>T	ENST00000295974.8	-	7	1522	c.893G>A	c.(892-894)aGa>aAa	p.R298K	APBB2_ENST00000506352.1_Missense_Mutation_p.R298K|APBB2_ENST00000513140.1_Missense_Mutation_p.R298K|APBB2_ENST00000508593.1_Missense_Mutation_p.R299K	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	298	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTCACTGACTCTTTTCCAGCC	0.537000													7	42					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953865	161953865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:161953865G>C	ENST00000294794.3	-	8	2276	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*	OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.S101*|OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.S619*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	618	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTCCACGTCTGAGTGGCCCTG	0.612000													5	28					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841441	1841441	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:1841441G>A	ENST00000415638.3	-	2	1171	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	IGFALS_ENST00000215539.3_Silent_p.I326I	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	326					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCAGCTGCCGGATGCGGTTGT	0.667000													10	17					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1587039	1587039	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:1587039G>A	ENST00000397374.3	-	2	145	c.18C>T	c.(16-18)ctC>ctT	p.L6L	DUSP8_ENST00000331588.4_Silent_p.L6L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	6					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTTCCTCGGGAGCCGGTCCC	0.697000													5	24					0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87994324	87994324	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:87994324T>C	ENST00000525899.1	-	3	652	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E	GJB7_ENST00000296882.3_Missense_Mutation_p.K103E	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	103					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTGTGCCTTTTCTCTCTACCC	0.443000													10	69					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770303	9770303	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:9770303G>C	ENST00000381844.4	-	1	442	c.279C>G	c.(277-279)atC>atG	p.I93M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I93M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	93					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCGTGGTGCAGATGGATCTCA	0.557000													7	68					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36340483	36340483	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:36340483G>C	ENST00000378910.5	-	6	680	c.681C>G	c.(679-681)ccC>ccG	p.P227P	NPHS1_ENST00000353632.6_Silent_p.P227P	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCCTTGATGGGGGCCTCCA	0.587000													7	29					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48274561	48274561	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:48274561G>A	ENST00000225964.5	-	10	848	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	244	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGAGGCCCACGCTCACCAGGA	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						6	39					0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371817	107371817	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:107371817C>T	ENST00000552029.1	-	2	2744	c.676G>A	c.(676-678)Gct>Act	p.A226T	MTERFD3_ENST00000240050.4_Missense_Mutation_p.A226T|MTERFD3_ENST00000392830.2_Missense_Mutation_p.A226T|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCCTTTATAGCTGTGGGAGAA	0.373000													25	41					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809359	148809359	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:148809359G>A	ENST00000378061.2	-	3	306	c.174C>T	c.(172-174)atC>atT	p.I58I	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	58	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCATCCATGTGATCAAATCTG	0.418000													81	130					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064705	78064705	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:78064705G>T	ENST00000299642.4	+	3	673	c.588G>T	c.(586-588)aaG>aaT	p.K196N	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.K187N|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	187					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GCAGCAGCAAGAGATACATAT	0.488000													6	22					0.217242	0.21747	1	1	0
F2	2147	broad.mit.edu	37	11	46742353	46742353	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:46742353G>A	ENST00000311907.5	+	4	335	c.279G>A	c.(277-279)gcG>gcA	p.A93A	F2_ENST00000530231.1_Silent_p.A93A	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	93					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTGAGACAGCGAGGACGCCTC	0.562000													16	81					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885074	88885074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:88885074G>A	ENST00000319675.3	-	1	1222	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	376										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGCTCCTCGGAAGCCCCCG	0.587000													7	24					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122496605	122496605	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:122496605C>G	ENST00000383659.1	-	2	335	c.213G>C	c.(211-213)caG>caC	p.Q71H	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Missense_Mutation_p.Q71H			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	71						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGAATCGTATCTGCTTGCCAT	0.438000													10	42					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907348	16907348	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:16907348G>C	ENST00000430580.2	-	16	2370	c.1483C>G	c.(1483-1485)Cac>Gac	p.H495D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	495	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGTTCTTGTGAGGCTGGTTG	0.473000													21	1148					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123245649	123245649	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:123245649C>G	ENST00000264501.4	+	64	11235	c.10862C>G	c.(10861-10863)tCt>tGt	p.S3621C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S3621C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S3621C			Q2LD37	K1109_HUMAN	KIAA1109	3621					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGCATTTCTGCTTCTGGA	0.388000													8	13					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75013811	75013811	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:75013811C>A	ENST00000401621.2	-	28	3408	c.3288G>T	c.(3286-3288)ctG>ctT	p.L1096L	DNAJC9-AS1_ENST00000440197.2_RNA|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000310715.3_Silent_p.L1096L|RP11-152N13.5_ENST00000457147.1_RNA|TTC18_ENST00000355577.3_Silent_p.L565L|TTC18_ENST00000394865.1_Silent_p.L1066L|RP11-152N13.5_ENST00000394864.2_RNA|TTC18_ENST00000340329.3_Silent_p.L336L|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1096							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAATTTCAGCTACATGA	0.423000													12	28					1.5842e-08	1.66446e-08	1	1	0
CRTAM	56253	broad.mit.edu	37	11	122735385	122735385	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:122735385G>A	ENST00000227348.4	+	7	822	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	CRTAM_ENST00000533709.1_Missense_Mutation_p.E60K	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	259					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GATTGACAAGGAAGAGAAAGA	0.378000													4	13					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18931463	18931463	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:18931463G>A	ENST00000377304.4	-	3	671	c.253C>T	c.(253-255)Cct>Tct	p.P85S	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.P73S	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	85							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGAATAGGAACACTTAAT	0.294000													9	67					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789372	164789372	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:164789372A>G	ENST00000420696.2	+	7	1249	c.1061A>G	c.(1060-1062)aAt>aGt	p.N354S	PBX1_ENST00000540236.1_Missense_Mutation_p.N354S|PBX1_ENST00000540246.1_Missense_Mutation_p.N249S|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.N249S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000401534.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	354					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CAGTCACTCAATGGGGATTCT	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								28	42					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172245	207172245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:207172245C>G	ENST00000374423.3	+	5	3379	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	998							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCAGTGGTTCAAAAACAAGT	0.373000													3	39					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20145702	20145702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:20145702G>A	ENST00000345530.3	-	17	1838	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.R564*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.R140*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	575										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGTTACTCGAGCATCCAAG	0.388000													39	80					0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133496746	133496746	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:133496746C>T	ENST00000353411.6	-	4	430	c.247G>A	c.(247-249)Gat>Aat	p.D83N	SKP1_ENST00000521216.1_Missense_Mutation_p.D83N|SKP1_ENST00000522855.1_Missense_Mutation_p.D83N|SKP1_ENST00000522552.1_Missense_Mutation_p.D83N|SKP1_ENST00000517625.1_Missense_Mutation_p.D83N	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGATATCATCTGTTCGCTTT	0.418000													7	37					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29896949	29896949	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:29896949C>G	ENST00000308713.5	-	8	1857	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E400Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E374Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E330Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	444	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGTGTCTCTGACAGCAGC	0.592000													7	42					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16077427	16077427	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:16077427C>G	ENST00000505450.1	-	2	715	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	PROM1_ENST00000539194.1_Missense_Mutation_p.E35Q|PROM1_ENST00000540805.1_Missense_Mutation_p.E35Q|PROM1_ENST00000543373.1_Missense_Mutation_p.E35Q|PROM1_ENST00000508167.1_Missense_Mutation_p.E35Q|PROM1_ENST00000510224.1_Missense_Mutation_p.E35Q|PROM1_ENST00000447510.2_Missense_Mutation_p.E35Q	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	35					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GCAGGCAATTCATAATTCCAA	0.507000													4	5					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35682019	35682019	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:35682019G>A	ENST00000216106.5	+	7	1455	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E334K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	443					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAACTGGCTGAGGTGTGGAA	0.338000													9	64					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50773824	50773824	+	Silent	SNP	C	C	T	rs139912757	byFrequency	TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:50773824C>T	ENST00000433963.1	+	12	1865	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	USP8_ENST00000307179.4_Silent_p.L455L|USP8_ENST00000396444.3_Silent_p.L455L|USP8_ENST00000425032.3_Silent_p.L378L			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	455					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTCCAACTCTCATGTTAACAG	0.393000													18	24					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781679	147781679	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:147781679G>C	ENST00000340253.5	+	4	565	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	FBXO38_ENST00000296701.6_Missense_Mutation_p.E133Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.E133Q|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.E133Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	133						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTCCTAGAAGCTTTGCA	0.458000													15	81					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100948238	100948238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:100948238C>G	ENST00000193391.7	-	17	3806	c.3619G>C	c.(3619-3621)Gag>Cag	p.E1207Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1207					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGGAAAGCTCACTGCTCTCA	0.542000													10	43					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651200	152651200	+	Missense_Mutation	SNP	C	C	T	rs147947110		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:152651200C>T	ENST00000367255.5	-	78	15221	c.14620G>A	c.(14620-14622)Gag>Aag	p.E4874K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4803K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4621K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4874K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4803K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4874					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCGTCTCACCAATGGCA	0.527000										HNSCC(10;0.0054)			6	37					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150063558	150063558	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:150063558C>G	ENST00000340413.2	-	4	546	c.470G>C	c.(469-471)aGa>aCa	p.R157T	NUP43_ENST00000460354.2_Missense_Mutation_p.R157T|NUP43_ENST00000367404.4_Missense_Mutation_p.R157T|NUP43_ENST00000367403.3_Missense_Mutation_p.R218T	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	157					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTGATCAGCTCTGAAGAGATT	0.448000													17	110					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277320	41277320	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:41277320C>T	ENST00000349496.5	+	11	2069	c.1789C>T	c.(1789-1791)Cca>Tca	p.P597S	CTNNB1_ENST00000405570.1_Missense_Mutation_p.P597S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P597S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P597S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P590S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	597					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AAATACCATTCCATTGTTTGT	0.388000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				31	34					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8069870	8069870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr18:8069870C>G	ENST00000332175.8	+	8	2356	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	PTPRM_ENST00000444013.1_Nonsense_Mutation_p.S227*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.S440*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.S378*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.S440*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	440	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.S440L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACAGAAAACTCACACCCTCAA	0.468000													4	10					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125903970	125903970	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:125903970C>G	ENST00000409134.3	-	9	1071	c.852G>C	c.(850-852)ctG>ctC	p.L284L	ALDH7A1_ENST00000447989.2_Silent_p.L311L|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Silent_p.L284L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	284					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCTGCACCATCAGGCCCACCT	0.468000													33	64					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39730068	39730068	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:39730068G>C	ENST00000005257.2	+	3	582	c.202G>C	c.(202-204)Gat>Cat	p.D68H	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	68					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						CGATATCTTAGATACAGCTGG	0.458000													13	47					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110454794	110454794	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:110454794G>C	ENST00000265175.5	+	22	3596	c.3541G>C	c.(3541-3543)Gag>Cag	p.E1181Q	SEC24B_ENST00000504968.2_Missense_Mutation_p.E1211Q|SEC24B_ENST00000399100.2_Missense_Mutation_p.E1146Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1181					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TAACTTCATAGAGGATGTGCT	0.289000													18	57					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31155151	31155151	+	Missense_Mutation	SNP	G	G	A	rs60815794		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:31155151G>A	ENST00000268281.4	-	7	786	c.728C>T	c.(727-729)tCt>tTt	p.S243F	PRSS36_ENST00000418068.2_Missense_Mutation_p.S243F|PRSS36_ENST00000569305.1_Missense_Mutation_p.S243F	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	243	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGCCCCCCAGAGTCACCCTA	0.592000													9	22					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746173	145746173	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145746173C>A	ENST00000292524.1	+	3	1027	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	LRRC14_ENST00000529022.1_Missense_Mutation_p.S294Y	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	294										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ATGGGCTCCTCTCTCCTTTCA	0.642000													8	46					0.000274275	0.000278657	1	1	0
C9orf16	79095	broad.mit.edu	37	9	130925761	130925761	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:130925761C>G	ENST00000372994.1	+	2	267	c.119C>G	c.(118-120)tCc>tGc	p.S40C	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	40										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CAGATCAACTCCTGTCTGGAC	0.597000													3	17					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157015987	157015987	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:157015987G>A	ENST00000348165.5	+	16	2402	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	681					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCTGAGGAAAGACAGCTTGCT	0.428000													63	82					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685658	51685658	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:51685658G>C	ENST00000267012.4	-	10	1293	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	BIN2_ENST00000544402.1_Nonsense_Mutation_p.S385*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.S384*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.S379*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	411						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGGGGGTGCTGAGGTCCTCTG	0.592000													5	31					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201081	71201081	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:71201081G>C	ENST00000273936.5	+	1	399	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATAACAAGAGACTCTATTAC	0.363000													13	36					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833340	41833340	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:41833340C>G	ENST00000327492.3	-	2	716	c.10G>C	c.(10-12)Gag>Cag	p.E4Q		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	4					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ACTTTGATCTCTAGCTGCATG	0.557000													9	22					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35801946	35801946	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:35801946C>A	ENST00000342694.2	+	9	1836	c.1581C>A	c.(1579-1581)ctC>ctA	p.L527L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	527	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGGCTCGCTCATGACAGCCC	0.517000													14	34					2.35188e-11	2.50973e-11	1	1	0
ACVR1	90	broad.mit.edu	37	2	158626892	158626892	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:158626892C>T	ENST00000263640.3	-	7	1207	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	ACVR1_ENST00000434821.1_Missense_Mutation_p.E260K|ACVR1_ENST00000410057.2_Missense_Mutation_p.E260K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E260K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	260	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AAGATATTTTCATGCCTCAGC	0.438000													9	88					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15510157	15510157	+	Silent	SNP	G	G	A	rs139542300		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:15510157G>A	ENST00000380733.4	-	2	373	c.30C>T	c.(28-30)ctC>ctT	p.L10L	PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380715.1_Silent_p.L10L|PSIP1_ENST00000380716.4_Silent_p.L10L|PSIP1_ENST00000397519.2_Silent_p.L10L|PSIP1_ENST00000380738.4_Silent_p.L10L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	10	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGGCGAAGATGAGGTCTCCAG	0.622000													54	89					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81332032	81332032	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:81332032C>T	ENST00000222390.5	-	18	2278	c.2052G>A	c.(2050-2052)atG>atA	p.M684I	HGF_ENST00000457544.2_Missense_Mutation_p.M679I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	684	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAACCATTCTCATTTTATGTT	0.378000													26	62					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53373410	53373410	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:53373410C>T	ENST00000229416.6	-	8	1411	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	310					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CCTCGCTCCTCCCGAGTTCTA	0.443000													38	64					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060619	56060619	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:56060619C>G	ENST00000584396.1	-	2	230	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	VEZF1_ENST00000581208.1_Missense_Mutation_p.E57Q			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	57					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TTTAATGTTTCTGGTGCACCC	0.463000													17	117					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145667657	145667657	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145667657G>A	ENST00000409379.3	-	6	746	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	239					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCTCTCCATGAACCGCTTCC	0.632000													14	38					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20915655	20915655	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:20915655C>G	ENST00000555656.1	-	6	2314	c.297G>C	c.(295-297)atG>atC	p.M99I	OSGEP_ENST00000554249.1_Missense_Mutation_p.M116I|OSGEP_ENST00000206542.4_Missense_Mutation_p.M298I			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	298					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CCTGGGCTATCATCGCTCCAT	0.478000													12	7					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856480	115856480	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:115856480C>G	ENST00000264363.2	-	6	2096	c.1418G>C	c.(1417-1419)cGa>cCa	p.R473P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	473	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACAAGTCTGTCGAGGGAGGAC	0.398000													6	20					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512416	35512416	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:35512416G>A	ENST00000599564.1	+	15	1818	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.E496K|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.E262K|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E489K			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	496						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTGTCTTCTGAGATCCGCTA	0.557000													5	20					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870500	88870500	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:88870500C>G	ENST00000303236.3	-	14	3178	c.2877G>C	c.(2875-2877)gtG>gtC	p.V959V	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Silent_p.V808V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	959	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCATTGCAGTCACTAACCCAA	0.468000													17	52					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690354	17690354	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:17690354T>A	ENST00000399839.1	-	2	484	c.214A>T	c.(214-216)Aag>Tag	p.K72*	CECR1_ENST00000449907.2_Nonsense_Mutation_p.K30*|CECR1_ENST00000262607.3_Nonsense_Mutation_p.K72*|CECR1_ENST00000399837.2_Nonsense_Mutation_p.K72*	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	72	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGCCTCCTTCATCTCAGCG	0.502000													4	35					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852559	20852559	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:20852559G>A	ENST00000262715.5	-	23	3370	c.3330C>T	c.(3328-3330)ctC>ctT	p.L1110L	TEP1_ENST00000556935.1_Silent_p.L1002L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1110					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTGCAGGTAGAGCTTCTGGA	0.607000													21	92					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728902	3728902	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:3728902C>A	ENST00000254963.2	+	8	859	c.714C>A	c.(712-714)ctC>ctA	p.L238L	HSPA12B_ENST00000542646.1_Silent_p.L72L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	238							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AGCAGCTACTCATCGCCCTGG	0.667000													13	43					2.31682e-05	2.3639e-05	1	1	0
TNR	7143	broad.mit.edu	37	1	175331835	175331835	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:175331835C>T	ENST00000367674.2	-	14	3526	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	TNR_ENST00000263525.2_Missense_Mutation_p.E940K			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGCTTTCCTCCCTGCCCCGC	0.542000													7	41					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79385269	79385269	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:79385269C>T	ENST00000264895.6	+	48	7298	c.6858C>T	c.(6856-6858)ttC>ttT	p.F2286F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2285					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGATGCCTTCAGCTTTACAC	0.438000													6	28					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131283145	131283145	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:131283145C>T	ENST00000261653.6	-	9	877	c.711G>A	c.(709-711)atG>atA	p.M237I	STX2_ENST00000392373.2_Missense_Mutation_p.M237I	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	237	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTGTGGCATTCATAACATTTC	0.328000													3	34					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328286	48328286	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:48328286A>T	ENST00000319988.1	+	1	512	c.512A>T	c.(511-513)gAg>gTg	p.E171V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGCCCAATGAGATAGACAAC	0.547000													4	24					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156290665	156290665	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:156290665C>G	ENST00000295688.3	-	7	854	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	CCT3_ENST00000368261.3_Missense_Mutation_p.E147Q|CCT3_ENST00000368259.2_Missense_Mutation_p.E154Q|CCT3_ENST00000472765.2_Missense_Mutation_p.E147Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	192					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATGTCAATCTCTTTCCGACCA	0.398000													23	104					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012050	57012050	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:57012050C>G	ENST00000200676.3	+	11	1159	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	CETP_ENST00000379780.2_Silent_p.L283L|CETP_ENST00000566128.1_Silent_p.L278L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	343					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCCACTGCCTCAAGATGCCCA	0.582000													9	52					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597683	11597683	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:11597683G>C	ENST00000262442.4	+	22	4859	c.4791G>C	c.(4789-4791)aaG>aaC	p.K1597N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGACACCAAGAGGCTTGCCT	0.512000													11	14					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105893477	105893477	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:105893477C>G	ENST00000357060.3	-	35	4612	c.4497G>C	c.(4495-4497)caG>caC	p.Q1499H	WDR96_ENST00000428666.1_Missense_Mutation_p.Q1471H|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1499										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACTCAATCTGAAGTATTC	0.333000													16	26					0	0	1	0	0
PLN	5350	broad.mit.edu	37	6	118880183	118880183	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:118880183C>G	ENST00000357525.5	+	2	291	c.99C>G	c.(97-99)atC>atG	p.I33M	CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000419517.2_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	33					blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	p.I33I(1)|p.I33M(1)		large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATCTATTTATCAATTTCTGTC	0.413000													21	41					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388444	24388444	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:24388444G>C	ENST00000330966.7	-	33	4097	c.3935C>G	c.(3934-3936)tCa>tGa	p.S1312*	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.S1309*|MYOM3_ENST00000338909.5_Nonsense_Mutation_p.S202*			Q5VTT5	MYOM3_HUMAN	myomesin 3	1309										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTTGCCCTGAGAGATCTGT	0.527000													22	44					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227663158	227663158	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:227663158G>A	ENST00000305123.5	-	1	1317	c.297C>T	c.(295-297)agC>agT	p.S99S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCTCGGCCTCGCTGTCCGCCG	0.632000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	62					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325355	74325355	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:74325355C>G	ENST00000322348.4	-	1	1369	c.508G>C	c.(508-510)Gat>Cat	p.D170H		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	170					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTGAAGGTATCAGGTGCCTTA	0.383000													29	102					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818013	7818013	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:7818013G>A	ENST00000329434.2	-	1	507	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F159L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAAAAAATAGAAGGAAGTAG	0.388000													12	40					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052418	52052418	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:52052418G>A	ENST00000340057.1	+	2	90	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	15					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TACTGCTGCTGAGCCTGGAGG	0.453000													63	130					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27296677	27296677	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:27296677C>T	ENST00000380032.3	-	2	219	c.136G>A	c.(136-138)Gat>Aat	p.D46N	EQTN_ENST00000537675.1_Missense_Mutation_p.D46N|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000380031.1_Missense_Mutation_p.D46N	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		GGAGTATGATCTTCATTCTTT	0.294000													28	22					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11649747	11649747	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:11649747C>G	ENST00000252456.2	+	1	216	c.5C>G	c.(4-6)tCc>tGc	p.S2C	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	2					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCAGCATGTCCTCTGCTCAC	0.652000													7	3					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51967777	51967777	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:51967777G>A	ENST00000232888.6	-	14	1354	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	427					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TGGAGAACTTGAGGCTGTTGA	0.587000													32	28					0	0	1	0	0
CCNG1	900	broad.mit.edu	37	5	162868150	162868150	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:162868150G>A	ENST00000340828.2	+	3	555	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000393929.1_Missense_Mutation_p.E111K|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000511683.2_5'UTR	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	111					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ATCAATAGAAGAGGAAAGGAA	0.393000													12	53					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122842964	122842964	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:122842964G>A	ENST00000316218.7	+	9	756	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	221	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CATCAAGGAGGAGTACAGCGT	0.547000													14	44					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145622831	145622831	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145622831G>C	ENST00000349769.3	-	22	2350	c.2256C>G	c.(2254-2256)ggC>ggG	p.G752G		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	752					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAAGAGGGAGCCCGAATCCC	0.682000													9	63					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100266	27100266	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:27100266C>G	ENST00000607124.1	-	1	263	c.264G>C	c.(262-264)tcG>tcC	p.S88S	HIST1H2BJ_ENST00000541790.1_Silent_p.S88S|HIST1H2BJ_ENST00000339812.2_Silent_p.S88S			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	88					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AGGTGATGGTCGAGCGCTTGT	0.597000													43	40					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636368	120636368	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:120636368G>A	ENST00000551150.1	-	5	955	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.R214C|RPLP0_ENST00000546989.1_Missense_Mutation_p.R178C|RPLP0_ENST00000228306.4_Missense_Mutation_p.R214C			P05388	RLA0_HUMAN	ribosomal protein, large, P0	214					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAGGAAGCGAGAATGCAGA	0.512000													6	21					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328587	23328587	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:23328587G>C	ENST00000597761.2	+	4	940	c.741G>C	c.(739-741)aaG>aaC	p.K247N		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CTACACATAAGAGAATTCATA	0.323000													3	8					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104180	142104180	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:142104180G>C	ENST00000390379.1	-	0	284																											ACTCCAGCCTGAGCGGGAAAT	0.512000													95	114					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995303	36995303	+	Silent	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:36995303G>T	ENST00000274963.8	+	15	1875	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	568	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCTGGTGTGTGATCCCTCGGG	0.662000													24	48					6.21321e-17	6.675e-17	1	1	0
WDR54	84058	broad.mit.edu	37	2	74650038	74650038	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:74650038C>T	ENST00000348227.4	+	3	352	c.264C>T	c.(262-264)ctC>ctT	p.L88L	WDR54_ENST00000409791.1_Silent_p.L36L|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	88										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGCTGGTACTCACCTCACATC	0.547000													10	10					0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456069	131456069	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:131456069C>G	ENST00000322030.8	+	6	1002	c.645C>G	c.(643-645)aaC>aaG	p.N215K	SET_ENST00000409104.3_Missense_Mutation_p.N206K|SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.N204K|SET_ENST00000372692.4_Missense_Mutation_p.N228K	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	228					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTGGCCAAACCCATTACAGT	0.383000			T	NUP214	AML								15	89					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790721	57790721	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:57790721T>C	ENST00000396776.2	+	3	820	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	GAPT_ENST00000318469.2_Missense_Mutation_p.F120L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	120					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCAGTCTAATTTCGAGGAGCA	0.383000													12	52					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37672480	37672480	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:37672480G>C	ENST00000315215.7	+	2	696	c.333G>C	c.(331-333)gaG>gaC	p.E111D	GPR124_ENST00000412232.2_Missense_Mutation_p.E111D			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	111					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E104E(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACTGCTGGAGAAGCTGTAAG	0.597000													12	113					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139491	160139491	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:160139491C>T	ENST00000409990.3	-	2	346	c.90G>A	c.(88-90)ttG>ttA	p.L30L	WDSUB1_ENST00000392796.3_Silent_p.L30L|WDSUB1_ENST00000359774.4_Silent_p.L30L|WDSUB1_ENST00000358147.4_Silent_p.L30L|WDSUB1_ENST00000409124.1_Silent_p.L30L	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	30						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTGTTTTGTCCAAGGAGCAAG	0.443000													11	34					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868907	97868907	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:97868907G>C	ENST00000437310.1	+	1	738	c.678G>C	c.(676-678)ttG>ttC	p.L226F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACAATCTTGAAAAAGAAGT	0.353000													9	28					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3947661	3947661	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:3947661C>G	ENST00000381638.2	-	38	6147	c.6023G>C	c.(6022-6024)aGa>aCa	p.R2008T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2008							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGAACAGCTCTCTTTCCCTA	0.338000													5	25					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123201014	123201014	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:123201014C>G	ENST00000264501.4	+	51	9049	c.8676C>G	c.(8674-8676)ttC>ttG	p.F2892L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.F2892L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.F2892L			Q2LD37	K1109_HUMAN	KIAA1109	2892					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCTGTGTTCAAAGTAGGAG	0.438000													12	47					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126201309	126201309	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:126201309G>A	ENST00000290868.2	-	20	1963	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	UROC1_ENST00000383579.3_Missense_Mutation_p.S697L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	637					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGGTTCCCTGACCAGCAGCG	0.612000													11	17					0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064598	191064598	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:191064598G>A	ENST00000340623.4	+	2	423	c.12G>A	c.(10-12)atG>atA	p.M4I	C2orf88_ENST00000443551.2_Missense_Mutation_p.M4I|C2orf88_ENST00000409870.1_Missense_Mutation_p.M4I|C2orf88_ENST00000396974.2_Missense_Mutation_p.M4I	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	4										kidney(1)|large_intestine(1)|lung(1)	3						TGGGCTGCATGAAATCAAAGC	0.418000													25	43					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947523	145947523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145947523G>A	ENST00000292562.7	-	5	1797	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGAACTTTCTGATGCTGAATG	0.537000													16	77					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14708975	14708975	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:14708975G>A	ENST00000218075.4	+	8	1604	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	GLRA2_ENST00000443437.2_Silent_p.Q269Q|GLRA2_ENST00000355020.4_Silent_p.Q358Q	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	358					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGAAGAGGCAGAATAAGGTAT	0.458000													11	40					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798583	212798583	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:212798583C>T	ENST00000294829.3	+	1	795	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	122										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCAGGCTTCTGCCCCTGAG	0.542000													33	47					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053920	32053920	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:32053920C>A	ENST00000438447.1	+	10	2219	c.1831C>A	c.(1831-1833)Cag>Aag	p.Q611K	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q611K			O15018	PDZD2_HUMAN	PDZ domain containing 2	611	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATTCGTGGACAGATGGGGAT	0.493000													4	56					1.23904e-05	1.26965e-05	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72209518	72209518	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:72209518G>C	ENST00000343721.5	-	0	207				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCATGCAGCGATGGCTCTCA	0.413000													35	61					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414021	48414021	+	Missense_Mutation	SNP	C	C	T	rs138904328		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:48414021C>T	ENST00000249598.1	-	2	1006	c.847G>A	c.(847-849)Gtg>Atg	p.V283M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	283					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTCTTGAGCACGCTCTCTTGT	0.577000													6	13					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54531267	54531267	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:54531267G>C	ENST00000373968.3	-	1	193	c.129C>G	c.(127-129)atC>atG	p.I43M		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	43	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGAAGCCGTTGATGCCTGGAG	0.537000													5	25					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102466467	102466467	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:102466467G>A	ENST00000360184.4	+	17	4110	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1316	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGGCAGTGAAGAGCGCGT	0.567000													19	16					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188405	98188405	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:98188405G>A	ENST00000357947.3	-	5	846	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	207	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCTGTAACTGAATACAATAA	0.463000													10	51					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530919	190530919	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:190530919G>C	ENST00000260952.4	+	4	474	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607829.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	21	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGATTTAAAAGAGGACTTACT	0.348000													31	60					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903653	11903653	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:11903653C>T	ENST00000405977.1	+	5	1533	c.908C>T	c.(907-909)gCg>gTg	p.A303V	BTBD3_ENST00000378226.2_Missense_Mutation_p.A303V|BTBD3_ENST00000399006.2_Missense_Mutation_p.A242V|BTBD3_ENST00000254977.3_Missense_Mutation_p.A242V	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	303								p.A303E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CAAGATCTGGCGTTGAGCATT	0.453000													13	55					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914648	120914648	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:120914648C>G	ENST00000355697.2	-	11	677	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.E211Q	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	220					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TTAATGGATTCAAGACTTCGG	0.468000													16	33					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130786001	130786001	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:130786001C>T	ENST00000325390.3	-	0	2866					NR_026758.1																						CATATGGCCTCGTCAAAGCTC	0.473000													3	14					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011733	68011733	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:68011733C>A	ENST00000268793.4	-	6	1205		c.e6-1			NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3						meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTACTACTTTCTGCAGAAACA	0.498000													11	7					9.70103e-10	1.0306e-09	1	1	0
CD33	945	broad.mit.edu	37	19	51729084	51729084	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:51729084C>T	ENST00000436584.2	+	2	118	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CD33_ENST00000391796.3_Silent_p.L148L|CD33_ENST00000421133.2_Silent_p.L21L|CD33_ENST00000262262.4_Silent_p.L148L			P20138	CD33_HUMAN	CD33 molecule	148	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAAAATCCTCATCCCTGGCA	0.572000													6	25					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189662	58189662	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:58189662G>A	ENST00000318203.5	+	5	1388	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	231					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTAGGCCTGAAGAGGGAGG	0.413000													6	24					0	0	1	0	0
PYCRL	65263	broad.mit.edu	37	8	144687950	144687950	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:144687950C>G	ENST00000220966.6	-	6	810	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	PYCRL_ENST00000377579.3_Missense_Mutation_p.E112Q|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	249					proline biosynthetic process		pyrroline-5-carboxylate reductase activity	p.L248_A256delLEQGGLRAA(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGCCCTGCTCCAGGGCGTGG	0.677000													16	22					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970739	57970739	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:57970739C>G	ENST00000302592.6	-	1	914	c.915G>C	c.(913-915)ttG>ttC	p.L305F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCTTATTCCTCAAGCTGTAGA	0.438000													10	44					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110130	140110130	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:140110130C>T	ENST00000371521.4	+	11	1391	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	NDOR1_ENST00000427047.2_Silent_p.L402L|NDOR1_ENST00000458322.2_Silent_p.L429L|NDOR1_ENST00000344894.5_Silent_p.L436L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	436	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGGTGCCCCTCTGGGTGCGGC	0.622000													23	14					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981314	67981314	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:67981314C>T	ENST00000422611.2	-	15	2037	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	SLC12A4_ENST00000537830.2_Silent_p.G658G|SLC12A4_ENST00000338335.3_Silent_p.G664G|SLC12A4_ENST00000572037.1_Silent_p.G616G|SLC12A4_ENST00000541864.2_Silent_p.G633G|SLC12A4_ENST00000316341.3_Silent_p.G664G|SLC12A4_ENST00000576616.1_Silent_p.G664G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	664					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCTCGGATCCCGTCACCCC	0.667000													3	6					0	0	1	0	0
CHKA	1119	broad.mit.edu	37	11	67821493	67821493	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:67821493C>G	ENST00000265689.4	-	12	1362	c.1336G>C	c.(1336-1338)Gat>Cat	p.D446H	CHKA_ENST00000356135.5_Missense_Mutation_p.D428H|CHKA_ENST00000533728.1_5'UTR	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	446					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AAATAGGCATCAAACCTTGCT	0.587000													7	18					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5094390	5094390	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:5094390C>G	ENST00000422873.1	-	8	1246	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.E349Q|C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	0						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGGTGTGGCTCTCTGTTTGCT	0.612000													15	19					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95761557	95761557	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:95761557G>A	ENST00000311106.3	-	3	600	c.363C>T	c.(361-363)ttC>ttT	p.F121F	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F74F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	121					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGATCATTGAAGAGATTTA	0.413000													10	44					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513597	169513597	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:169513597C>T	ENST00000367796.3	-	12	2128	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	F5_ENST00000367797.3_Missense_Mutation_p.E638K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	638	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGGTGTCCTCATGCCTCTTT	0.493000													7	24					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35928750	35928750	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:35928750G>T	ENST00000374694.1	-	1	1612	c.1608C>A	c.(1606-1608)ttC>ttA	p.F536L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	536					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGAGCACGGTGAACAGGCCCA	0.662000													8	14					3.09899e-07	3.21701e-07	1	1	0
CALN1	83698	broad.mit.edu	37	7	71252775	71252775	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:71252775C>G	ENST00000395275.2	-	7	1159	c.771G>C	c.(769-771)cgG>cgC	p.R257R	CALN1_ENST00000412588.1_Silent_p.R257R|CALN1_ENST00000329008.5_Silent_p.R215R|CALN1_ENST00000431984.1_Silent_p.R215R|CALN1_ENST00000395276.2_Silent_p.R215R|CALN1_ENST00000405452.2_Silent_p.R215R	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	215						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCATGCCGCTCCGGAGTATCT	0.587000													9	22					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108138883	108138883	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:108138883C>G	ENST00000370056.4	-	25	2575	c.2301G>C	c.(2299-2301)aaG>aaC	p.K767N	VAV3_ENST00000415432.2_Missense_Mutation_p.K207N|VAV3_ENST00000544443.1_Missense_Mutation_p.K171N|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.K767N	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	767					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTTCTGGCTCCTTGTATGGAA	0.408000													32	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962241	151962241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:151962241G>A	ENST00000355193.2	-	8	1284	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q356*					lysine (K)-specific methyltransferase 2C									p.Q356K(4)									CAAAAGAACTGATCTAAGAGG	0.413000													30	263					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100317292	100317292	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:100317292C>G	ENST00000262233.6	+	2	309	c.170C>G	c.(169-171)tCa>tGa	p.S57*	EML1_ENST00000334192.4_Nonsense_Mutation_p.S57*|EML1_ENST00000327921.9_Nonsense_Mutation_p.S26*|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	57						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGCTCAAATCAGCTCTAGCT	0.532000													6	25					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175432719	175432719	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:175432719C>G	ENST00000392547.2	-	6	1311	c.1212G>C	c.(1210-1212)agG>agC	p.R404S	WIPF1_ENST00000392546.2_Missense_Mutation_p.R404S|WIPF1_ENST00000409891.1_Missense_Mutation_p.R404S|WIPF1_ENST00000272746.5_Missense_Mutation_p.R404S|WIPF1_ENST00000467149.1_5'UTR|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.R404S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	404	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTACTCCACTCCTGGATGGCA	0.602000													3	16					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918366	48918366	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:48918366C>T	ENST00000311378.4	+	2	2245	c.1717C>T	c.(1717-1719)Ctt>Ttt	p.L573F	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.L480F|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	573						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAAGGAGTTTCTTGGCTTGCA	0.612000													17	18					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53602710	53602710	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:53602710C>G	ENST00000342160.3	-	44	6380	c.5923G>C	c.(5923-5925)Gag>Cag	p.E1975Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E1975Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1975					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGCCAACCTCTTGGGTCATA	0.433000													14	31					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223693	154223693	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:154223693C>T	ENST00000428931.1	+	13	1557	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P464S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P475S|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P464S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	464					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACATCGGCTCCACAGATGTC	0.537000													9	61					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566127	155566127	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:155566127C>A	ENST00000295101.2	+	2	1192	c.715C>A	c.(715-717)Cct>Act	p.P239T	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	239					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGGCAGACACCTGAGGGTGA	0.448000													4	40					0.00909568	0.00919203	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132402357	132402357	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:132402357G>C	ENST00000337331.5	-	25	3668	c.3582C>G	c.(3580-3582)gaC>gaG	p.D1194E	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1194					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTACAGCTTTGTCAAGTTTCC	0.338000													8	40					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81574986	81574986	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:81574986G>T	ENST00000394660.2	+	9	1448	c.1088G>T	c.(1087-1089)gGc>gTc	p.G363V	IL16_ENST00000302987.4_Missense_Mutation_p.G363V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	363	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAGAGGCCGGCGTGGGCCTG	0.647000													13	44					1.49906e-05	1.53444e-05	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129150099	129150099	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:129150099G>C	ENST00000540052.1	+	3	3395	c.3351G>C	c.(3349-3351)aaG>aaC	p.K1117N	BCORL1_ENST00000218147.7_Missense_Mutation_p.K1117N|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1117N|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1117N	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1117					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCGCCCAAGAAGATGAAGT	0.572000													13	14					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933236	150933236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:150933236G>T	ENST00000271640.5	+	16	2888	c.2698G>T	c.(2698-2700)Gag>Tag	p.E900*	SETDB1_ENST00000368969.4_Nonsense_Mutation_p.E900*|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	900	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)			GGACCCTGAAGAGTCCAATGA	0.527000													18	24					8.00594e-06	8.23912e-06	1	1	0
BDKRB2	624	broad.mit.edu	37	14	96707622	96707622	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:96707622C>T	ENST00000542454.2	+	3	3964	c.876C>T	c.(874-876)ttC>ttT	p.F292F	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.F319F|BDKRB2_ENST00000539359.1_Silent_p.F292F|BDKRB2_ENST00000306005.3_Silent_p.F319F			P30411	BKRB2_HUMAN	bradykinin receptor B2	319					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCGCCTCCTTCATGGCCTACA	0.572000													15	12					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33760083	33760083	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:33760083C>G	ENST00000255486.4	-	1	133	c.77G>C	c.(76-78)aGa>aCa	p.R26T	STARD13_ENST00000336934.5_Intron|STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron	NM_178007.2	NP_821075.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTGCATTCTCTGCACCAGCG	0.527000													4	28					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853728	35853728	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:35853728C>G	ENST00000377988.2	+	13	2598	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	TMEM8B_ENST00000377991.4_Missense_Mutation_p.S437C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	437					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GGGGTCCCATCTGGAGCCCGG	0.617000													31	41					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441439	111441439	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:111441439C>T	ENST00000265162.5	+	10	1986	c.1644C>T	c.(1642-1644)aaC>aaT	p.N548N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	548					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTGTGCTTAACGTGAACGGTG	0.438000													17	51					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296573	114296573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:114296573C>T	ENST00000309235.5	+	5	819	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	ZNF483_ENST00000358151.4_Nonsense_Mutation_p.Q221*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.Q221*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	221	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTGATTTCCCAGCTAAAGTG	0.388000													44	56					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139229046	139229046	+	Silent	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:139229046G>C	ENST00000422142.2	+	5	675	c.603G>C	c.(601-603)ctG>ctC	p.L201L		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	201	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGGAGTGTCTGATGACCCGGC	0.632000													7	24					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41537115	41537115	+	Nonsense_Mutation	SNP	C	C	T	rs137853039		TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr22:41537115C>T	ENST00000263253.7	+	10	3161	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	648					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAGAAAAACGAAGGACCAG	0.443000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				3	34					0	0	1	0	0
MIR380	494329	broad.mit.edu	37	14	101491412	101491412	+	RNA	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr14:101491412C>G	ENST00000362112.2	-	0	29					NR_029872.1																						TGGTCCACATCTTCTCAATAT	0.493000													39	27					0	0	1	0	0
PIFO	128344	broad.mit.edu	37	1	111892843	111892843	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:111892843G>A	ENST00000369738.4	+	5	870	c.505G>A	c.(505-507)Gag>Aag	p.E169K	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.E136K	NM_181643.4	NP_857594.2			primary cilia formation																		CCTAAAAGCTGAGGTAATAAG	0.428000													19	73					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152009018	152009018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:152009018G>A	ENST00000355193.2	-	5	822	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q202*					lysine (K)-specific methyltransferase 2C																		ATATTCTGCTGAGGAGATCGT	0.368000													44	81					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320899	152320899	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:152320899A>G	ENST00000243326.5	+	29	5348	c.4865A>G	c.(4864-4866)cAa>cGa	p.Q1622R	RIF1_ENST00000430328.2_Missense_Mutation_p.Q1622R|RIF1_ENST00000444746.2_Missense_Mutation_p.Q1622R|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1622R|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1622R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCGAAAAACAAGATGAAAGT	0.328000													7	29					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639936	3639936	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:3639936G>A	ENST00000294008.3	-	12	4343	c.3703C>T	c.(3703-3705)Ccc>Tcc	p.P1235S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1235	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AACAGCCAGGGAGCCCCTCTC	0.672000								Direct reversal of damage					15	33					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019607	41019607	+	RNA	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:41019607C>T	ENST00000585538.1	+	0	446					NR_002773.1																						AGCTGCCTCCCAAGGCTGCAG	0.662000													18	25					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633884	106633884	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:106633884C>T	ENST00000378026.4	-	2	863	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	243						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTGGTGAGCTCCGTCAGCCGC	0.552000													3	53					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30778107	30778107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:30778107C>T	ENST00000324685.6	+	11	1774	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	RNF40_ENST00000563683.1_Nonsense_Mutation_p.Q407*|RNF40_ENST00000357890.5_Nonsense_Mutation_p.Q347*|RNF40_ENST00000402121.3_Nonsense_Mutation_p.Q139*	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	447					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGGTCATTCAGCTGGAGGA	0.597000													9	14					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622557	38622557	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:38622557G>A	ENST00000413689.1	-	17	3286	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G	SCN5A_ENST00000333535.4_Silent_p.G1031G|SCN5A_ENST00000425664.1_Silent_p.G1031G|SCN5A_ENST00000455624.2_Silent_p.G1031G|SCN5A_ENST00000449557.2_Silent_p.G1031G|SCN5A_ENST00000450102.2_Silent_p.G1031G|SCN5A_ENST00000423572.2_Silent_p.G1031G|SCN5A_ENST00000414099.2_Silent_p.G1031G|SCN5A_ENST00000443581.1_Silent_p.G1031G|SCN5A_ENST00000451551.2_Silent_p.G1031G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1031					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGTTGCTCGCCTTCCTCAA	0.642000													4	20					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49421015	49421015	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49421015C>T	ENST00000301067.7	-	48	14733	c.14734G>A	c.(14734-14736)Gaa>Aaa	p.E4912K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GAGGGTTCTTCAGGAGGTGGG	0.627000													20	35					0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72163588	72163588	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:72163588C>G	ENST00000261263.3	+	2	424	c.168C>G	c.(166-168)ttC>ttG	p.F56L		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	56					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGGCATCATTCTTAACAAAGA	0.299000													13	17					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180427	101180427	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:101180427G>A	ENST00000370508.5	-	2	281	c.254C>T	c.(253-255)tCt>tTt	p.S85F	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.S64F	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	85					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCAAGACGAGAAGCACAGCT	0.468000													10	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466074	179466074	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179466074G>A	ENST00000589042.1	-	287	55874	c.55650C>T	c.(55648-55650)ttC>ttT	p.F18550F	TTN_ENST00000591111.1_Silent_p.F16909F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.F9485F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.F15982F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F9610F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.F9677F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16909	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACACGGAAGAAATATTGCT	0.453000													14	29					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43909277	43909277	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:43909277C>T	ENST00000562955.1	+	61	8464	c.8464C>T	c.(8464-8466)Cgc>Tgc	p.R2822C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1980C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2879						peroxisome		p.R1980C(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCGGCGCCATCGCCCTGAGTC	0.612000													13	23					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427927	47427927	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:47427927G>C	ENST00000295454.3	+	9	1609	c.1317G>C	c.(1315-1317)aaG>aaC	p.K439N	GABRB1_ENST00000538619.1_Missense_Mutation_p.K369N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	439					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAAAGTCAAGATCCCCGACT	0.567000													26	86					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270114	185270114	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:185270114G>A	ENST00000367498.3	-	10	1732	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	IVNS1ABP_ENST00000392007.3_Silent_p.L152L|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	370					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTGCAGCTATGAGTTTGCCAT	0.433000													7	50					0	0	1	0	0
KDELR2	11014	broad.mit.edu	37	7	6502618	6502618	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:6502618C>G	ENST00000490996.1	-	4	539	c.540G>C	c.(538-540)aaG>aaC	p.K180N	KDELR2_ENST00000258739.4_3'UTR|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	NM_001100603.1	NP_001094073.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	0					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCTTCTGGCTCTTTTCCTCTG	0.333000													13	52					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891136	150891136	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:150891136G>A	ENST00000370350.3	+	5	542	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	153						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCCTGGAGGAACAGGGCGC	0.642000													14	37					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27017147	27017147	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:27017147G>A	ENST00000314616.6	+	26	3673	c.3390G>A	c.(3388-3390)ctG>ctA	p.L1130L	SUPT6H_ENST00000347486.4_Silent_p.L1130L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1130					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGGCAGAGCTGAGCTGTCGAT	0.522000													62	45					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138677162	138677162	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:138677162G>A	ENST00000298480.5	+	28	3237	c.3163G>A	c.(3163-3165)Gac>Aac	p.D1055N	KCNT1_ENST00000491806.2_Missense_Mutation_p.D1020N|KCNT1_ENST00000371757.2_Missense_Mutation_p.D1055N|KCNT1_ENST00000263604.3_Intron|KCNT1_ENST00000487664.1_Missense_Mutation_p.D1010N|KCNT1_ENST00000490355.2_Missense_Mutation_p.D1033N|KCNT1_ENST00000488444.2_Missense_Mutation_p.D1034N|KCNT1_ENST00000486577.2_Missense_Mutation_p.D1012N			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1055						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGCCCCACGACCTCAGAGC	0.667000													16	10					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67569779	67569779	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:67569779C>T	ENST00000521381.1	+	4	1056	c.440C>T	c.(439-441)tCa>tTa	p.S147L	PIK3R1_ENST00000521657.1_Missense_Mutation_p.S147L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S147L|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S147L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	147	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGGAATGTTCAACTCTATAC	0.468000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			22	130					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749625	165749625	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:165749625G>C	ENST00000366882.1	-	22	2378	c.2224C>G	c.(2224-2226)Ctg>Gtg	p.L742V	PDE10A_ENST00000539869.2_Missense_Mutation_p.L752V|PDE10A_ENST00000354448.4_Missense_Mutation_p.L742V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	742					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATGCTTTCAGAAGAGGCTCC	0.473000													13	17					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498863	216498863	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:216498863C>A	ENST00000366943.2	-	6	1313	c.927G>T	c.(925-927)ccG>ccT	p.P309P	USH2A_ENST00000366942.3_Silent_p.P309P|USH2A_ENST00000307340.3_Silent_p.P309P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	309	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGACCCGCGGGTGGCTGC	0.532000										HNSCC(13;0.011)			7	38					0.00198382	0.00200909	1	1	0
WNK3	65267	broad.mit.edu	37	X	54275687	54275687	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:54275687G>C	ENST00000354646.2	-	17	3532	c.3094C>G	c.(3094-3096)Ctt>Gtt	p.L1032V	WNK3_ENST00000375169.3_Missense_Mutation_p.L1032V|WNK3_ENST00000375159.2_Missense_Mutation_p.L1032V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1032					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGAGTTGTAAGAGAGTTACCA	0.433000													10	60					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38087162	38087162	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:38087162G>A	ENST00000308059.6	+	2	561	c.540G>A	c.(538-540)gaG>gaA	p.E180E	DLEC1_ENST00000452631.2_Silent_p.E180E|DLEC1_ENST00000346219.3_Silent_p.E180E			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	180					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGGACCTCGAGAGCCTTGTCA	0.517000													12	9					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309554	24309554	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:24309554C>G	ENST00000357002.4	+	4	867	c.752C>G	c.(751-753)tCa>tGa	p.S251*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.S166*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	251					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGCAACTCTCAACCCTTACT	0.338000													5	20					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54262803	54262803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:54262803G>A	ENST00000371429.3	-	12	1835	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*	NDC1_ENST00000537333.1_Nonsense_Mutation_p.Q78*|NDC1_ENST00000234725.8_Nonsense_Mutation_p.Q298*|NDC1_ENST00000540001.1_Nonsense_Mutation_p.Q413*	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTTGGTGTCTGAAAAGCAGTT	0.428000													7	42					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284343	33284343	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:33284343G>A	ENST00000431845.2	-	2	502	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ZBTB22_ENST00000418724.1_Silent_p.L117L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	117	BTB.				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						CAGCCATGCTGAGGCGGCCAG	0.557000													16	84					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343433	99343433	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:99343433G>A	ENST00000307518.5	+	9	1301	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	ANKRD2_ENST00000455090.1_Missense_Mutation_p.G285E|ANKRD2_ENST00000298808.5_Missense_Mutation_p.G312E|ANKRD2_ENST00000370655.1_Missense_Mutation_p.G318E			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	345					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGGCTGGAGGGGCCTAATGAT	0.672000													7	5					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192473	51192473	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:51192473G>A	ENST00000293441.1	-	15	2046	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	SHANK1_ENST00000391813.1_Silent_p.F63F|SHANK1_ENST00000359082.3_Silent_p.F667F|SHANK1_ENST00000391814.1_Silent_p.F676F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	676	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGAGCACGAACCCAAACC	0.612000													13	38					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86824073	86824073	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:86824073C>T	ENST00000414194.2	+	17	3096	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	DMTF1_ENST00000331242.7_Missense_Mutation_p.S701L|DMTF1_ENST00000394703.5_Missense_Mutation_p.S701L|DMTF1_ENST00000413276.2_Missense_Mutation_p.S631L|DMTF1_ENST00000432937.2_Missense_Mutation_p.S613L			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	701	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATCGTTCCTTCACCACATGGC	0.333000													38	55					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30583543	30583543	+	Silent	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:30583543C>A	ENST00000395219.1	-	1	185	c.54G>T	c.(52-54)cgG>cgT	p.R18R	ZNF688_ENST00000223459.6_5'UTR	NM_001024683.1	NP_001019854.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TGAAGGGACCCCGCGGTCCTG	0.637000													18	30					1.67942e-08	1.76062e-08	1	1	0
BNC1	646	broad.mit.edu	37	15	83935682	83935682	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:83935682C>T	ENST00000345382.2	-	3	426	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	BNC1_ENST00000569704.1_Missense_Mutation_p.R107Q|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	114					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R114Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGAAGAGCCGGTCCAGTAG	0.502000													18	24					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829391	65829391	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:65829391G>A	ENST00000528302.1	+	15	1902	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	SF3B2_ENST00000322535.6_Silent_p.L633L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	633					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCCATGGCTGATTGCCATGC	0.547000													6	5					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831328	47831328	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr21:47831328G>A	ENST00000359568.5	+	28	5448	c.5341G>A	c.(5341-5343)Ggg>Agg	p.G1781R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1781					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.G1781R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCCCAGGCCGGGGGCCCTCG	0.692000													5	14					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52820520	52820520	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:52820520G>A	ENST00000371586.2	-	22	2487	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.F777F|CC2D1B_ENST00000438831.1_Silent_p.F158F	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	783	C2.									breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ACCCTTTGTGGAAGATCTCAA	0.532000													9	80					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610301	68610301	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:68610301G>A	ENST00000226413.4	-	2	751	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.S200L|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	243					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GGGTCCTGATGAAGGACCCGT	0.418000													8	18					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651746	75651746	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:75651746T>G	ENST00000565683.1	-	17	1993	c.1982A>C	c.(1981-1983)cAt>cCt	p.H661P	MAN2C1_ENST00000569482.1_Missense_Mutation_p.M657L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.M558L|MAN2C1_ENST00000267978.5_Missense_Mutation_p.M657L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	652					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCATAGCCCATGCTGGGCACT	0.642000													5	17					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36465636	36465636	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:36465636C>G	ENST00000265748.2	+	19	2982	c.2761C>G	c.(2761-2763)Cat>Gat	p.H921D	ANLN_ENST00000396068.2_Missense_Mutation_p.H884D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	921	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGCAACATTCATTCTTCAGG	0.269000													6	30					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70838038	70838038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:70838038C>T	ENST00000358731.4	+	30	6621	c.6358C>T	c.(6358-6360)Cag>Tag	p.Q2120*	BDP1_ENST00000380675.2_Nonsense_Mutation_p.Q256*	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2120					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGATGATTATCAGGAAGTTTC	0.353000													6	45					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183197634	183197634	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:183197634G>C	ENST00000264144.4	+	11	1659	c.1594G>C	c.(1594-1596)Gac>Cac	p.D532H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D532H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	532	Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGGGAATTGTGACCGGCTGAC	0.562000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	38					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	920728	920728	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:920728C>A	ENST00000262301.11	-	8	1251		c.e8+1		LMF1_ENST00000568897.1_Splice_Site|LMF1_ENST00000543238.1_Splice_Site|LMF1_ENST00000399843.2_Splice_Site	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1							endoplasmic reticulum membrane|integral to membrane		p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CAGGCTCATACCTTCCGAAGG	0.602000													5	66					0.014758	0.0148985	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95185910	95185910	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:95185910G>A	ENST00000354268.4	+	10	1407	c.1334G>A	c.(1333-1335)tGt>tAt	p.C445Y	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.C15Y|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C445Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	445					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATATGGCACTGTAAAACACTG	0.313000													21	72					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609722	117609722	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:117609722G>A	ENST00000368508.3	-	43	7175	c.6977C>T	c.(6976-6978)tCt>tTt	p.S2326F	ROS1_ENST00000368507.3_Missense_Mutation_p.S2320F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2326					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)		AGGCTTGCCAGAAGGGCAGTA	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								25	40					0	0	1	0	0
SEC22C	9117	broad.mit.edu	37	3	42605142	42605142	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:42605142G>C	ENST00000273156.7	-	3	428	c.219C>G	c.(217-219)atC>atG	p.I73M	SEC22C_ENST00000417572.1_Missense_Mutation_p.I73M|SEC22C_ENST00000423701.2_Missense_Mutation_p.I73M|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000536332.1_Missense_Mutation_p.I3M|SEC22C_ENST00000264454.3_Missense_Mutation_p.I73M	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	73	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGCAGGAGCAGATAGCCATGC	0.527000													14	14					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614413	112614413	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:112614413G>A	ENST00000341068.3	-	12	2181	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	470					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGGTCACTGAACCAAAGAT	0.363000													11	19					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179336235	179336235	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:179336235C>T	ENST00000493866.1	+	3	244	c.219C>T	c.(217-219)ttC>ttT	p.F73F	NDUFB5_ENST00000259037.3_Silent_p.F125F|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.F113F	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	125					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	CCCGTAATTTCTATGATAGTC	0.373000													25	75					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48725807	48725807	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:48725807C>T	ENST00000294952.8	+	17	2025	c.1868C>T	c.(1867-1869)tCa>tTa	p.S623L	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S623L|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S592L	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	623										endometrium(2)|kidney(4)|lung(9)	15						GCTGCTGTGTCAAATACTGCT	0.478000													6	30					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100402854	100402854	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:100402854C>G	ENST00000358173.3	-	16	3236	c.2768G>C	c.(2767-2769)aGa>aCa	p.R923T	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	923	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCTTCGTATCTTCCCATTTT	0.597000													4	10					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72081788	72081788	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:72081788G>C	ENST00000343721.5	-	0	837				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCCATGGTAAGACTGCTTGCT	0.483000													21	55					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39730044	39730044	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:39730044G>A	ENST00000005257.2	+	3	558	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	60					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GCTAGATGGGGAGGAAGTCCA	0.438000													9	43					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248549	94248549	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:94248549C>T	ENST00000515393.1	-	9	1482	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	MCTP1_ENST00000505208.1_Missense_Mutation_p.V274M|MCTP1_ENST00000429576.2_Missense_Mutation_p.V228M|MCTP1_ENST00000505078.1_Missense_Mutation_p.V11M|MCTP1_ENST00000312216.8_Missense_Mutation_p.V274M	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	495	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CGGAACTTCACGTAGGGATCG	0.468000													4	48					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127652731	127652731	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr9:127652731C>G	ENST00000373555.4	-	16	1767	c.1434G>C	c.(1432-1434)gtG>gtC	p.V478V		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	478	Gln-rich.					Golgi cisterna membrane		p.V478V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGCCACGCTCACAATTTCTC	0.532000													28	23					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388000													8	33					0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424499	67424499	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:67424499G>A	ENST00000564104.1	-	2	1066	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TPPP3_ENST00000290942.5_Silent_p.F75F|TPPP3_ENST00000562206.1_Silent_p.F75F|TPPP3_ENST00000393957.2_Silent_p.F75F			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	75					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		GGGCCTTCTTGAACTCCTCAT	0.567000													64	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438393	179438393	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179438393C>T	ENST00000589042.1	-	326	72690	c.72466G>A	c.(72466-72468)Gat>Aat	p.D24156N	TTN_ENST00000591111.1_Missense_Mutation_p.D22515N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15091N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21588N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15216N|TTN_ENST00000342175.6_Missense_Mutation_p.D15283N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22515							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTAATGATCAATTTTGGCA	0.438000													53	106					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203030125	203030125	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:203030125G>A	ENST00000367240.2	+	22	3276	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PPFIA4_ENST00000272198.6_Missense_Mutation_p.E432K|PPFIA4_ENST00000295706.4_Missense_Mutation_p.E432K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E432K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E916K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E645K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	432					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGTCACCCATGAAGAGATGGA	0.557000													31	50					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128852289	128852289	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:128852289C>G	ENST00000249373.3	+	12	2641	c.2361C>G	c.(2359-2361)ttC>ttG	p.F787L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	787					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTCGGACTTCTGAGCCTGCA	0.592000			Mis		skin basal cell								17	37					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113010200	113010200	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:113010200G>C	ENST00000369686.5	+	1	145	c.41G>C	c.(40-42)gGa>gCa	p.G14A	WNT2B_ENST00000256640.5_5'UTR	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		agcatttttggaattcaacta	0.348000													14	28					0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822510	1822510	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:1822510C>G	ENST00000177742.3	-	3	420	c.390G>C	c.(388-390)aaG>aaC	p.K130N	MRPS34_ENST00000397375.2_Missense_Mutation_p.K123N			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	123						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						CGCTCTCAGTCTTCCCTGATG	0.632000													26	50					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100883892	100883892	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:100883892G>C	ENST00000358544.2	+	61	11898	c.11787G>C	c.(11785-11787)caG>caC	p.Q3929H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3904H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACAGTGCAGCTCAAGCAGC	0.552000													30	66					0	0	1	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537254	140537254	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140537254C>T	ENST00000539533.1	+	1	1678	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C															p.R560S(2)									AACGACAACTCGCCCTTCGTG	0.706000													28	35					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:69058566C>T	ENST00000288368.4	+	34	4487	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000													7	39					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779421	150779421	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:150779421C>T	ENST00000392818.3	-	2	587	c.230G>A	c.(229-231)aGa>aAa	p.R77K	TMUB1_ENST00000462940.1_Missense_Mutation_p.R77K|TMUB1_ENST00000297533.4_Missense_Mutation_p.R77K|TMUB1_ENST00000482202.1_Missense_Mutation_p.R77K|TMUB1_ENST00000476627.1_Missense_Mutation_p.R77K	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	77						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTGACCTCTGTGTCTCAG	0.672000													39	108					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927168	31927168	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:31927168C>G	ENST00000300870.10	+	4	1807	c.1598C>G	c.(1597-1599)tCa>tGa	p.S533*		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	533					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACTTGTTTCTCAAATCTTATT	0.353000													14	25					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139661983	139661983	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:139661983G>A	ENST00000303045.6	-	46	3818	c.3372C>T	c.(3370-3372)ctC>ctT	p.L1124L	COL22A1_ENST00000435777.1_Silent_p.L1104L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1124	Collagen-like 10.|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)			GTAGACCAGGGAGGCCTGGGG	0.517000										HNSCC(7;0.00092)			7	44					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97664722	97664722	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:97664722G>C	ENST00000333396.7	-	9	1741	c.1159C>G	c.(1159-1161)Caa>Gaa	p.Q387E	MINA_ENST00000394198.2_Missense_Mutation_p.Q387E|MINA_ENST00000360258.4_Missense_Mutation_p.Q386E	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ATCTTTTCTTGAGCTTCATCC	0.383000													11	41					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420803	49420803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:49420803C>T	ENST00000301067.7	-	48	14945	c.14946G>A	c.(14944-14946)tgG>tgA	p.W4982*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCACTCCTTTCCATTTCTTGA	0.627000													17	31					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105817941	105817941	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:105817941C>G	ENST00000353479.5	-	16	1520	c.1230G>C	c.(1228-1230)ctG>ctC	p.L410L	COL17A1_ENST00000369733.3_Silent_p.L410L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	410	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACACAGTCTTCAGGTCTCCTG	0.498000													8	54					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59876559	59876559	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:59876559C>T	ENST00000259008.2	-	9	1509	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	BRIP1_ENST00000577598.1_Silent_p.Q414Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	414	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAAACCGAAGCTGAACTTCTG	0.408000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					9	54					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102306329	102306329	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr10:102306329C>G	ENST00000299163.6	+	6	985	c.885C>G	c.(883-885)ttC>ttG	p.F295L		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGTGAACTTCTGGTATAAGG	0.398000													47	54					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158540090	158540090	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:158540090C>T	ENST00000367102.2	-	12	1420	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SERAC1_ENST00000367101.1_Missense_Mutation_p.E427K|SERAC1_ENST00000367104.3_Missense_Mutation_p.E427K			Q96JX3	SRAC1_HUMAN	serine active site containing 1	427					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TATCTGTCTTCATCCTCCATA	0.532000													6	19					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911205	80911205	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr13:80911205C>T	ENST00000377102.1	-	2	1613	c.636G>A	c.(634-636)gtG>gtA	p.V212V	SPRY2_ENST00000540649.1_Silent_p.V212V|SPRY2_ENST00000377104.3_Silent_p.V212V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	212	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CATAGTCAATCACGTTCTGGG	0.502000													5	20					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174210656	174210656	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:174210656C>G	ENST00000251507.4	+	5	752	c.578C>G	c.(577-579)tCt>tGt	p.S193C	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S156C|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	193	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGATAGCATCTTTTCCAATC	0.368000													11	47					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063385	73063385	+	RNA	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chrX:73063385G>C	ENST00000429829.1	-	0	9203					NR_001564.2																						GATGCAAGGGGAATATGTGGA	0.368000													15	14					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998272	119998272	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:119998272G>C	ENST00000341846.5	-	3	1327	c.906C>G	c.(904-906)ttC>ttG	p.F302L	TRIM29_ENST00000529044.1_Missense_Mutation_p.F41L|TRIM29_ENST00000541857.1_Missense_Mutation_p.F35L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	302					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATTGGTGGTGAAGCTCTGGA	0.557000													5	13					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256842	63256842	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:63256842C>T	ENST00000323865.3	-	1	938	c.705G>A	c.(703-705)aaG>aaA	p.K235K	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	235					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCGCTCCGGTCTTCTCCACCT	0.612000													13	47					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923810	158923810	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr6:158923810C>G	ENST00000367097.3	+	13	4472	c.3115C>G	c.(3115-3117)Cag>Gag	p.Q1039E	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1039					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTGCAGTCAGTGCAGTGG	0.731000													6	14					0	0	1	0	0
GPD1L	23171	broad.mit.edu	37	3	32181752	32181752	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:32181752C>G	ENST00000282541.5	+	4	600	c.399C>G	c.(397-399)ctC>ctG	p.L133L		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	133					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						GGCTGAAGCTCATTTCTGACA	0.502000													32	42					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155461192	155461192	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:155461192C>G	ENST00000499023.2	-	11	1079	c.953G>C	c.(952-954)aGa>aCa	p.R318T	PLRG1_ENST00000393905.2_Missense_Mutation_p.R318T|PLRG1_ENST00000302078.5_Missense_Mutation_p.R309T	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	318						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GGCTTTAGTTCTCACATCCCA	0.353000													6	38					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123596797	123596797	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:123596797T>C	ENST00000336139.4	-	8	2217	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	ZNF202_ENST00000529691.1_Missense_Mutation_p.K619E|ZNF202_ENST00000530393.1_Missense_Mutation_p.K619E			O95125	ZN202_HUMAN	zinc finger protein 202	619					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTGAATGGTTTCTCCCCAGTG	0.537000													8	48					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545586	23545586	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:23545586C>T	ENST00000376979.3	-	3	741	c.443G>A	c.(442-444)tGa>tAa	p.*148*		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	0						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGTTTCACTCAGTGGAATCC	0.532000													20	31					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432523	40432523	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:40432523C>T	ENST00000372809.5	+	8	1028	c.885C>T	c.(883-885)ttC>ttT	p.F295F	MFSD2A_ENST00000420632.2_Silent_p.F126F|MFSD2A_ENST00000372811.5_Silent_p.F282F|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	295					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCGCCTACTTCCGGGGCCTAC	0.577000													31	65					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7015087	7015087	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:7015087C>T	ENST00000007969.8	+	3	425	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	LRRC23_ENST00000433346.1_Missense_Mutation_p.H69Y|LRRC23_ENST00000443597.2_Missense_Mutation_p.H69Y|LRRC23_ENST00000429740.1_Missense_Mutation_p.H69Y|LRRC23_ENST00000323702.5_Missense_Mutation_p.H69Y|LRRC23_ENST00000449039.1_Intron|LRRC23_ENST00000436789.1_Missense_Mutation_p.H69Y	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	69										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGGGCTGGCTCATGCTTATGT	0.542000													9	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465750	179465750	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:179465750C>G	ENST00000589042.1	-	288	56105	c.55881G>C	c.(55879-55881)aaG>aaC	p.K18627N	TTN_ENST00000591111.1_Missense_Mutation_p.K16986N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9562N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16059N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9687N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K9754N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16986							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTTCTTTCTTTGTCCCAG	0.488000													34	50					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149584395	149584395	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:149584395C>G	ENST00000230671.2	+	12	1809	c.1438C>G	c.(1438-1440)Cag>Gag	p.Q480E	SLC6A7_ENST00000524041.1_Missense_Mutation_p.Q480E	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	480						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGCAGGCATTCAGAGGTTCTG	0.647000													12	70					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130775333	130775333	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:130775333G>A	ENST00000509018.1	-	24	3891	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1279F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S1229F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1242F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1237F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S952F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1237F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1229	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGACGCCACAGAAATAGTGTC	0.358000													6	29					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365615	167365615	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:167365615G>C	ENST00000367862.5	+	10	1282	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.K337N|POU2F1_ENST00000420254.3_Missense_Mutation_p.K337N|POU2F1_ENST00000429375.2_Missense_Mutation_p.K297N|POU2F1_ENST00000367866.2_Missense_Mutation_p.K360N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	337	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCAGCTTTAAGAACATGTGCA	0.408000													43	59					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415667	57415667	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr20:57415667G>A	ENST00000313949.7	+	1	895	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTCAAGTTGCGAAGCCCCGAC	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	17					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332916	153332916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr4:153332916G>A	ENST00000281708.4	-	2	1269	c.40C>T	c.(40-42)Cga>Tga	p.R14*	FBXW7_ENST00000604872.1_Nonsense_Mutation_p.R14*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R14*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R14*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	14					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCTCCAGTTCGTCGTCTTTTG	0.483000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								8	18					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844827	3844827	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:3844827G>C	ENST00000309890.7	-	13	1817	c.1667C>G	c.(1666-1668)tCa>tGa	p.S556*	ATP2A3_ENST00000352011.3_Nonsense_Mutation_p.S556*|ATP2A3_ENST00000359983.3_Nonsense_Mutation_p.S556*|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Nonsense_Mutation_p.S556*|ATP2A3_ENST00000397043.3_Nonsense_Mutation_p.S556*|ATP2A3_ENST00000397035.3_Nonsense_Mutation_p.S556*	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	556					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGCGTGTCTGAGCCTGAGCC	0.662000													28	26					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845010	101845010	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:101845010A>T	ENST00000360264.3	+	18	2486	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	CUX1_ENST00000292535.7_Missense_Mutation_p.K811N|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.K755N|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.K653N|CUX1_ENST00000546411.2_Missense_Mutation_p.K709N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.K789N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	811					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACAGGTGAAAAATGAGGTGG	0.672000													6	19					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67719481	67719481	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr16:67719481C>T	ENST00000268797.7	-	2	483	c.138G>A	c.(136-138)gaG>gaA	p.E46E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	46						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTTCATCTCCTCAGCAAGCT	0.597000													5	27					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45882443	45882443	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:45882443G>A	ENST00000443527.2	+	4	597	c.575G>A	c.(574-576)cGc>cAc	p.R192H	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Missense_Mutation_p.R110H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	171					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ACATACAAGCGCTTTCAGGCC	0.582000													12	22					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872836	130872836	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:130872836C>T	ENST00000357462.5	-	2	680	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	POTEF_ENST00000409914.2_Missense_Mutation_p.R196Q|POTEF_ENST00000360967.5_Missense_Mutation_p.R196Q|POTEF_ENST00000361163.4_Missense_Mutation_p.R196Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	196						cell cortex	ATP binding	p.R196Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGTTGACATCGTCTGTCCAG	0.413000													12	49					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245118	100245118	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr7:100245118C>G	ENST00000160382.5	-	8	814	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	236					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTTCTCCTTCTTCTTCCAGT	0.602000													28	41					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34845617	34845617	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:34845617C>A	ENST00000505624.1	+	3	197	c.94C>A	c.(94-96)Cac>Aac	p.H32N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	32							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATCCCAGCTCACCAGCAAAC	0.458000													4	48					1.024e-07	1.06532e-07	1	1	0
TPP1	1200	broad.mit.edu	37	11	6637565	6637565	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:6637565G>A	ENST00000533371.1	-	7	1125	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TPP1_ENST00000299427.6_Silent_p.L352L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	352					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGAGCAGGGTGAGACCCCGAG	0.562000													7	39					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692637	145692637	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr8:145692637C>T	ENST00000301332.2	+	4	759	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	128					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTTGGCCCTTCTGGCATGGCT	0.642000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	82					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112308684	112308684	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:112308684G>A	ENST00000475700.1	+	3	2820	c.462G>A	c.(460-462)atG>atA	p.M154I	DDX20_ENST00000369702.4_Missense_Mutation_p.M546I			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	546	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGCAAATGAAGAATTCTG	0.453000													10	50					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521830	156521830	+	Silent	SNP	C	C	G			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:156521830C>G	ENST00000361170.2	-	14	1516	c.1506G>C	c.(1504-1506)ctG>ctC	p.L502L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	502					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATTCCAGCTCAGGAAGTCCT	0.562000													20	24					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191839597	191839597	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:191839597C>T	ENST00000361099.3	-	24	2584	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.E733K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	733					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E733*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CGAGACACCTCGTCAAACTCC	0.498000													10	20					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362795	36362795	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:36362795G>A	ENST00000221891.4	+	6	899	c.707G>A	c.(706-708)aGa>aAa	p.R236K	APLP1_ENST00000586861.1_Missense_Mutation_p.R230K|APLP1_ENST00000537454.2_Missense_Mutation_p.R197K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	236					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGGAGCAGAGTAGAGGGG	0.632000													8	39					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593352	131593352	+	Silent	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr12:131593352C>T	ENST00000261654.5	+	18	2530	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	GPR133_ENST00000535015.1_Silent_p.L689L|GPR133_ENST00000543617.1_Silent_p.L176L|GPR133_ENST00000376682.4_Silent_p.L343L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	657					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGCTGCACCTCTACAGCATGG	0.582000													19	52					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36041932	36041932	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr19:36041932G>C	ENST00000262623.3	-	20	2995	c.2967C>G	c.(2965-2967)atC>atG	p.I989M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	989					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGAAGTTGAAGATGTTGGGCA	0.602000													3	10					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250459	177250459	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr1:177250459C>T	ENST00000361539.4	+	8	2459	c.2147C>T	c.(2146-2148)gCa>gTa	p.A716V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	716																	CAGGACTCTGCACTCTTGCAG	0.537000													17	66					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428416	2428416	+	Silent	SNP	G	G	A			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:2428416G>A	ENST00000452833.1	-	20	3065	c.3057C>T	c.(3055-3057)ctC>ctT	p.L1019L	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Silent_p.L1017L|TRPM5_ENST00000533060.1_Silent_p.L1017L|TRPM5_ENST00000528453.1_Silent_p.L1017L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1017						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAGGTGGCTGAGCAGGATGA	0.647000													4	12					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599500	56599500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr2:56599500delC	ENST00000407595.2	+	4	1841	c.1339delC	c.(1339-1341)cctfs	p.P448fs	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	448										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGAAGGCAACCTCCAACTAG	0.478													2	4	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
OR5H7P	79291	broad.mit.edu	37	3	97957496	97957496	+	RNA	DEL	T	T	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:97957496delT	ENST00000508616.1	+	0	26																											CATGGTACAATTTTTTTCCTT	0.378													21	97	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2																						CATGCCTGACCAGACAACCAGG	0.574													7	62	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140856490	140856490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:140856490delG	ENST00000308177.3	+	1	911	c.807delG	c.(805-807)acgfs	p.T269fs	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGCAACGGATCTGGATG	0.592													11	72	---	---	---	---					
C5orf54	63920	broad.mit.edu	37	5	159820772	159820773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr5:159820772_159820773insT	ENST00000408953.3	-	2	2232_2233	c.1725_1726insA	c.(1723-1728)aaagttfs	p.V576fs	C5orf54_ENST00000523213.1_Frame_Shift_Ins_p.V576fs	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	576										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aaacgaggaactttttttgaaa	0.342													2	4	---	---	---	---					
CEP164	22897	broad.mit.edu	37	11	117266891	117266891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr11:117266891delG	ENST00000278935.3	+	25	3358	c.3211delG	c.(3211-3213)ggafs	p.G1071fs	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1071					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAATCCCTTGGAACAGTGAG	0.562													14	38	---	---	---	---					
TMEM87A	25963	broad.mit.edu	37	15	42503922	42503923	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr15:42503922_42503923insT	ENST00000389834.4	-	20	1915_1916	c.1651_1652insA	c.(1651-1653)aggfs	p.R551fs	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Frame_Shift_Ins_p.R490fs	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	551						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CATTTTGGACCTTTCAAAGTGT	0.381													32	68	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578510	7578510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T5-01A-11D-A42E-08	TCGA-XF-A9T5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4824b72-e9d3-44b8-9d1e-251a692a1496	084c1476-0737-4206-a102-5ae4ec488f5f	g.chr17:7578510delG	ENST00000420246.2	-	5	552	c.420delC	c.(418-420)accfs	p.T140fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.T140fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.T140fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.T140fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T140fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T140fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	140	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(4)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.C141fs*8(2)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.A6_P10delAKTCP(1)|p.K7_T8delKT(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*29(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.K139fs*29(1)|p.T140I(1)|p.C141fs*34(1)|p.C141fs*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)		GCACAGGGCAGGTCTTGGCCA	0.562		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)			24	20	---	---	---	---