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
PRPF40A	55660	broad.mit.edu	37	2	153515522	153515522	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:153515522C>G	ENST00000410080.1	-	24	3049	c.2508G>C	c.(2506-2508)gaG>gaC	p.E836D		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	863					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TATAACTTCTCTCTGAGTAGC	0.323000													5	15					0	0	0.014758	0	0
EXOC1	55763	broad.mit.edu	37	4	56768625	56768625	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:56768625G>A	ENST00000381295.2	+	18	2801	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	EXOC1_ENST00000346134.7_Missense_Mutation_p.G818E|EXOC1_ENST00000349598.6_Missense_Mutation_p.G803E	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	818					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GAGTACCCTGGAAAGGAAGTA	0.388000													10	46					0	0	0.058154	0	0
PDCD4	27250	broad.mit.edu	37	10	112641289	112641289	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:112641289G>C	ENST00000393104.2	+	4	669	c.309G>C	c.(307-309)aaG>aaC	p.K103N	PDCD4_ENST00000280154.7_Missense_Mutation_p.K114N	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	114					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GACTACCAAAGAAAGGTTGGT	0.433000													19	91					0	0	0.049695	0	0
PPP4R4	57718	broad.mit.edu	37	14	94732160	94732160	+	Missense_Mutation	SNP	C	C	G	rs147765941		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:94732160C>G	ENST00000304338.3	+	22	2468	c.2314C>G	c.(2314-2316)Cga>Gga	p.R772G		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	772						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R772*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAAACTGATTCGAAGCCAGTC	0.368000													12	111					0	0	0.080935	0	0
RYR1	6261	broad.mit.edu	37	19	38966027	38966027	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:38966027C>G	ENST00000355481.4	+	29	4361	c.4230C>G	c.(4228-4230)ctC>ctG	p.L1410L	RYR1_ENST00000359596.3_Silent_p.L1410L|RYR1_ENST00000360985.3_Silent_p.L1410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1410	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCCCCGACTCCCTCACGACG	0.622000													4	34					0	0	0.009096	0	0
TRIM5	85363	broad.mit.edu	37	11	5687293	5687293	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:5687293C>G	ENST00000305836.5	-	6	1088	c.786G>C	c.(784-786)ttG>ttC	p.L262F	TRIM5_ENST00000396853.4_Missense_Mutation_p.L263F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L262F|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Missense_Mutation_p.L262F|TRIM5_ENST00000380034.3_Missense_Mutation_p.L262F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L262F			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	262					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGGCTTCTTCAAGGTCACGT	0.398000													15	41					0	0	0.024245	0	0
RBBP9	10741	broad.mit.edu	37	20	18474623	18474623	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:18474623G>A	ENST00000337227.4	-	3	302	c.227C>T	c.(226-228)tCt>tTt	p.S76F	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	76						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GATGGCCCCAGAACTGTGGCC	0.493000													23	125					0	0	0.083992	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194497	70194497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:70194497G>T	ENST00000253925.7	+	16	2349	c.2134G>T	c.(2134-2136)Gaa>Taa	p.E712*	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E712*	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	712					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCCAGCTCGGGAAGTGGACAG	0.602000													64	163					2.73361e-28	3.34108e-28	0.048971	1	0
GAREM	64762	broad.mit.edu	37	18	29867522	29867522	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:29867522C>T	ENST00000399218.4	-	4	1093	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.V346V	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGTCGGTTTTCACATCACGGA	0.557000													24	109					0	0	0.076483	0	0
LGR5	8549	broad.mit.edu	37	12	71977759	71977759	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:71977759C>G	ENST00000266674.5	+	18	2280	c.1969C>G	c.(1969-1971)Ctg>Gtg	p.L657V	LGR5_ENST00000536515.1_Missense_Mutation_p.L585V|LGR5_ENST00000540815.2_Missense_Mutation_p.L633V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	657						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGCTTACTCTGGCAGCCCT	0.448000													27	95					0	0	0.108266	0	0
SNTG2	54221	broad.mit.edu	37	2	1079260	1079260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:1079260C>G	ENST00000308624.5	+	2	258	c.129C>G	c.(127-129)atC>atG	p.I43M	SNTG2_ENST00000407292.1_Missense_Mutation_p.I43M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	43					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTATGACATCCGGCTGAAGC	0.473000													21	97					0	0	0.069288	0	0
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706000													6	11					0	0	0.021553	0	0
ABCC1	4363	broad.mit.edu	37	16	16232288	16232288	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:16232288G>A	ENST00000399408.2	+	31	4565	c.4390G>A	c.(4390-4392)Gat>Aat	p.D1464N	ABCC1_ENST00000349029.5_Missense_Mutation_p.D1339N|ABCC1_ENST00000399410.3_Missense_Mutation_p.D1454N|ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000351154.5_Missense_Mutation_p.D1395N|ABCC1_ENST00000346370.5_Missense_Mutation_p.D1398N			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1454	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTTGTGTTGGATGAGGCCAC	0.602000													10	32					0	0	0.069234	0	0
TRPM3	80036	broad.mit.edu	37	9	73230868	73230868	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:73230868C>G	ENST00000377110.3	-	17	2689	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	TRPM3_ENST00000377105.1_Missense_Mutation_p.E675Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E675Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E678Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E820Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E688Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E663Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E843Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E816Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E678Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E665Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E688Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGGGCTTCTCTGGTTCTTCT	0.458000													21	77					0	0	0.062417	0	0
MCTP1	79772	broad.mit.edu	37	5	94248593	94248593	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:94248593C>T	ENST00000515393.1	-	9	1438	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	MCTP1_ENST00000429576.2_Missense_Mutation_p.R213K|MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000312216.8_Missense_Mutation_p.R259K|MCTP1_ENST00000505208.1_Missense_Mutation_p.R259K	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	480	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)		CTTGAGGTCTCTCCCTTCAAT	0.468000													56	39					0	0	0.048971	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761376	26761376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:26761376G>T	ENST00000529632.2	+	13	2834	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E880*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E880*|SEZ6L_ENST00000411842.2_Nonsense_Mutation_p.E77*|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.E653*|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E816*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	880	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGGGCTGCCTGAAAATGGATA	0.522000													100	128					1.50986e-39	1.85545e-39	0.048971	1	0
CTNNA3	29119	broad.mit.edu	37	10	69281696	69281696	+	Silent	SNP	G	G	C	rs74142830	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:69281696G>C	ENST00000433211.2	-	5	657	c.483C>G	c.(481-483)ctC>ctG	p.L161L	CTNNA3_ENST00000545309.1_Silent_p.L161L|CTNNA3_ENST00000373744.4_Silent_p.L161L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAACATTTTTGAGAGACTCAA	0.383000													3	76					0	0	0.004672	0	0
TRAM1	23471	broad.mit.edu	37	8	71508503	71508503	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:71508503C>G	ENST00000521425.1	-	5	1258	c.222G>C	c.(220-222)ctG>ctC	p.L74L	TRAM1_ENST00000536748.1_Silent_p.L129L|TRAM1_ENST00000262213.2_Silent_p.L160L|TRAM1_ENST00000521049.1_Intron			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	160					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTTACGTCATCAGGTTATGGG	0.363000													19	79					0	0	0.038395	0	0
GABPA	2551	broad.mit.edu	37	21	27137078	27137078	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:27137078G>C	ENST00000354828.3	+	9	1643	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	GABPA_ENST00000400075.3_Missense_Mutation_p.E372D	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	372					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TGAACTATGAGAAACTCAGTC	0.333000													9	50					0	0	0.047766	0	0
MAST1	22983	broad.mit.edu	37	19	12954349	12954349	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12954349C>T	ENST00000251472.4	+	4	294	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MAST1_ENST00000591495.1_Silent_p.D81D	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	85					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGGGCGGACGGACGCCGGT	0.667000													6	62					0	0	0.038147	0	0
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:54966652C>T	ENST00000394636.4	+	2	829	c.492C>T	c.(490-492)ttC>ttT	p.F164F	IRX5_ENST00000320990.5_Silent_p.F164F|IRX5_ENST00000558597.1_Silent_p.F98F|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	164					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.F164F(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCACCTGGTTCGCCAACGCGC	0.597000													28	205					0	0	0.030593	0	0
ASXL3	80816	broad.mit.edu	37	18	31318552	31318552	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:31318552C>G	ENST00000269197.5	+	11	1184	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCCAGTTTCTGCACAGACA	0.488000													3	39					0	0	0.004672	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657919	72657919	+	RNA	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:72657919C>T	ENST00000425256.1	-	0	1992																											ctatggagctcagttgaggca	0.488000													32	138					0	0	0.086207	0	0
COMTD1	118881	broad.mit.edu	37	10	76993969	76993969	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:76993969C>T	ENST00000372538.3	-	7	733	c.651G>A	c.(649-651)ggG>ggA	p.G217G	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	217						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCAGCACCTTCCCGCGCCACA	0.706000													5	46					0	0	0.021553	0	0
GPR17	2840	broad.mit.edu	37	2	128408752	128408752	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128408752C>A	ENST00000544369.1	+	4	1138	c.527C>A	c.(526-528)gCa>gAa	p.A176E	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000272644.3_Missense_Mutation_p.A176E|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.A176E|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	176						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCTCTACGCACACCTGGCC	0.642000													65	96					3.30712e-30	4.05302e-30	0.048971	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52832714	52832714	+	RNA	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:52832714C>T	ENST00000451298.1	-	0	573																											TGTCTAGAAACTGTATGACTT	0.348000													3	2					0	0	0.004672	0	0
FAM96A	84191	broad.mit.edu	37	15	64380955	64380955	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64380955C>T	ENST00000557835.1	-	2	246	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	FAM96A_ENST00000300030.3_Missense_Mutation_p.E74K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E74K|FAM96A_ENST00000559950.1_Missense_Mutation_p.E74K			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	74					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TATTCTTCTTCATTTATCTCC	0.378000													8	45					0	0	0.047766	0	0
MAP4K4	9448	broad.mit.edu	37	2	102493575	102493575	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:102493575C>T	ENST00000413150.2	+	23	2717	c.2662C>T	c.(2662-2664)Ctt>Ttt	p.L888F	MAP4K4_ENST00000350198.4_Missense_Mutation_p.L892F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L772F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1006F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1013F|MAP4K4_ENST00000347699.4_Missense_Mutation_p.L973F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L776F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1054F	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	973	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AATGGACGTACTTGAGGGCTT	0.433000													24	37					0	0	0.083992	0	0
NLRP7	199713	broad.mit.edu	37	19	55453113	55453113	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:55453113G>A	ENST00000446217.1	-	4	453	c.51C>T	c.(49-51)ttC>ttT	p.F17F	NLRP7_ENST00000448121.2_5'UTR|NLRP7_ENST00000592784.1_5'UTR|NLRP7_ENST00000588756.1_5'UTR|NLRP7_ENST00000340844.2_5'UTR|NLRP7_ENST00000328092.5_5'UTR|NLRP7_ENST00000590030.1_5'UTR			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGTTAAGGCTGAAGAACTGGG	0.468000													6	33					0	0	0.029380	0	0
TERF2	7014	broad.mit.edu	37	16	69419321	69419321	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:69419321A>G	ENST00000254942.3	-	2	464	c.448T>C	c.(448-450)Tcg>Ccg	p.S150P	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000603068.1_Missense_Mutation_p.S108P|TERF2_ENST00000567296.2_Missense_Mutation_p.S150P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	108	TRFH dimerization.				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)				TCAATCCGCGACAGACACTGC	0.488000													45	346					0	0	0.048971	0	0
CFAP221	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:120413990G>A	ENST00000602047.1	+	25	2721	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E823K			Q4G0U5	PCDP1_HUMAN		823						cilium	calmodulin binding	p.E537K(1)				Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473000													10	45					0	0	0.080935	0	0
MICAL2	9645	broad.mit.edu	37	11	12248632	12248632	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:12248632C>G	ENST00000256194.4	+	15	2237	c.1949C>G	c.(1948-1950)tCt>tGt	p.S650C	MICAL2_ENST00000379612.3_Missense_Mutation_p.S650C|MICAL2_ENST00000537344.1_Missense_Mutation_p.S650C|MICAL2_ENST00000527546.1_Missense_Mutation_p.S650C|MICAL2_ENST00000342902.5_Missense_Mutation_p.S650C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	650						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCATCCATTTCTAATAACTAT	0.448000													5	27					0	0	0.047766	0	0
POT1	25913	broad.mit.edu	37	7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:124503594G>A	ENST00000357628.3	-	8	954	c.356C>T	c.(355-357)tCa>tTa	p.S119L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	119					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATACTTGCTTGAAGTGCGAGG	0.423000													14	102					0	0	0.105934	0	0
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:207041526C>A	ENST00000407325.2	-	3	808	c.446G>T	c.(445-447)cGa>cTa	p.R149L	GPR1_ENST00000437420.1_Missense_Mutation_p.R149L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463000													17	48					1.67942e-08	1.98797e-08	0.038395	1	0
KRT6B	3854	broad.mit.edu	37	12	52845415	52845415	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:52845415G>C	ENST00000252252.3	-	1	495	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	150	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAATTTGCAGGTTGAGGGGA	0.612000													17	122					0	0	0.049695	0	0
TP63	8626	broad.mit.edu	37	3	189597922	189597922	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:189597922C>T	ENST00000418709.2	+	11	1447	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V	TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000437221.1_Silent_p.V379V|TP63_ENST00000354600.5_Intron|TP63_ENST00000264731.3_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AATCTGACGTCTTCTTTAGAC	0.438000										HNSCC(45;0.13)			25	99					0	0	0.030593	0	0
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645101G>A	ENST00000395961.3	-	4	719	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_ENST00000371440.3_Missense_Mutation_p.P185S|BCAS1_ENST00000371435.2_Missense_Mutation_p.P185S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P88S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592000													24	154					0	0	0.069288	0	0
CD1C	911	broad.mit.edu	37	1	158261130	158261130	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158261130T>A	ENST00000368170.3	+	2	547	c.268T>A	c.(268-270)Ttc>Atc	p.F90I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	90					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTATTTCGTTTCTACCTCTT	0.398000													21	110					0	0	0.055883	0	0
PIPOX	51268	broad.mit.edu	37	17	27379941	27379941	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27379941G>A	ENST00000323372.4	+	3	593	c.267G>A	c.(265-267)caG>caA	p.Q89Q	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	89					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TTAACAGGCAGACTGGATTAC	0.468000													35	21					0	0	0.059317	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957605	96957605	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:96957605C>T	ENST00000323853.5	-	17	2271	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	732	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTGTCTTTCCAGTCTCCTTC	0.567000													13	52					0	0	0.105934	0	0
COMT	1312	broad.mit.edu	37	22	19951777	19951777	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:19951777C>G	ENST00000361682.6	+	5	952	c.570C>G	c.(568-570)ctC>ctG	p.L190L	COMT_ENST00000406520.3_Silent_p.L190L|COMT_ENST00000407537.1_Silent_p.L140L|COMT_ENST00000403710.1_Silent_p.L190L|COMT_ENST00000449653.1_Silent_p.L140L|COMT_ENST00000403184.1_Silent_p.L190L|COMT_ENST00000493893.1_3'UTR	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	190					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TGGTCTTCCTCGACCACTGGA	0.592000													31	70					0	0	0.037714	0	0
PSME4	23198	broad.mit.edu	37	2	54167130	54167130	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54167130C>T	ENST00000404125.1	-	4	563	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAATATTTTCTACAGAACTG	0.343000													56	57					0	0	0.048971	0	0
NRARP	441478	broad.mit.edu	37	9	140196037	140196037	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:140196037C>T	ENST00000356628.2	-	1	666	c.344G>A	c.(343-345)tGa>tAa	p.*115*		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	0					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGGCGGGCATCACCGGCCGCT	0.731000													4	6					0	0	0.009096	0	0
PTPRB	5787	broad.mit.edu	37	12	70938355	70938355	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70938355G>A	ENST00000334414.6	-	22	5520	c.5476C>T	c.(5476-5478)Ccc>Tcc	p.P1826S	PTPRB_ENST00000550358.1_Missense_Mutation_p.P1738S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1608S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1518S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1518S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1518S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1608	Tyrosine-protein phosphatase.				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)			GTAGTGATGGGTAAAGAAAAA	0.408000													12	15					0	0	0.093190	0	0
ALG2	85365	broad.mit.edu	37	9	101980827	101980827	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:101980827C>T	ENST00000476832.1	-	2	701	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ALG2_ENST00000319033.6_Missense_Mutation_p.E121K	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	214					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCCAGCTTTTCAGGAACAACT	0.448000													26	69					0	0	0.091800	0	0
RFX6	222546	broad.mit.edu	37	6	117241560	117241560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:117241560C>G	ENST00000332958.2	+	12	1286	c.1270C>G	c.(1270-1272)Caa>Gaa	p.Q424E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	424					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTGGCTCTCAAGCCCTTCT	0.418000													27	123					0	0	0.108266	0	0
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:96706267C>T	ENST00000389672.5	+	3	582	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R182C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R88C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	87	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R88C(2)|p.R182C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAACTGGCTTCGTACAAACTG	0.428000													24	150					0	0	0.076483	0	0
RAD50	10111	broad.mit.edu	37	5	131925448	131925448	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925448G>A	ENST00000378823.3	+	9	1772	c.954G>A	c.(952-954)ctG>ctA	p.L318L	RAD50_ENST00000265335.6_Silent_p.L457L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	457					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAATGAGCTGAAAAATGTGA	0.343000								Homologous recombination					10	21					0	0	0.080935	0	0
APOB	338	broad.mit.edu	37	2	21225673	21225673	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:21225673T>C	ENST00000233242.1	-	29	12748	c.12621A>G	c.(12619-12621)aaA>aaG	p.K4207K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4207					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATCCCAGGTTTCCCCGGAA	0.433000													12	65					0	0	0.093190	0	0
PDXK	8566	broad.mit.edu	37	21	45161560	45161560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:45161560G>A	ENST00000291565.4	+	3	338	c.155G>A	c.(154-156)tGg>tAg	p.W52*	PDXK_ENST00000468090.1_Nonsense_Mutation_p.W52*|PDXK_ENST00000467908.1_Nonsense_Mutation_p.W12*	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	52					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TATGCCCACTGGAAGGGCCAA	0.577000													5	83					0	0	0.021553	0	0
CCKBR	887	broad.mit.edu	37	11	6292495	6292495	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:6292495C>T	ENST00000525462.1	+	4	1276	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R272C|CCKBR_ENST00000334619.2_Missense_Mutation_p.R356C			P32239	GASR_HUMAN	cholecystokinin B receptor	356					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACACGTGGCGCGCCTTTGA	0.567000													16	58					0	0	0.028581	0	0
TMEM67	91147	broad.mit.edu	37	8	94767171	94767171	+	Missense_Mutation	SNP	C	C	T	rs146838062		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:94767171C>T	ENST00000453321.3	+	1	87	c.29C>T	c.(28-30)gCa>gTa	p.A10V	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	10					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGGGGTGGCAATGGCGGTT	0.642000													23	107					0	0	0.099896	0	0
VDR	7421	broad.mit.edu	37	12	48240460	48240460	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:48240460C>T	ENST00000229022.3	-	9	1168	c.887G>A	c.(886-888)cGc>cAc	p.R296H	VDR_ENST00000549336.1_Missense_Mutation_p.R296H|VDR_ENST00000535672.1_Missense_Mutation_p.R264H|VDR_ENST00000395324.2_Missense_Mutation_p.R296H|VDR_ENST00000550325.1_Missense_Mutation_p.R346H	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	296	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCACTGACGCGGTACTTGTA	0.542000													28	33					0	0	0.108266	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998908	56998908	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:56998908G>A	ENST00000179765.5	-	15	2806	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	BAZ2A_ENST00000379441.3_Silent_p.V871V|BAZ2A_ENST00000549884.1_Silent_p.V899V|BAZ2A_ENST00000551812.1_Silent_p.V901V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	901	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCAGCAGCCTGACCAGCAGGT	0.557000													9	55					0	0	0.058154	0	0
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:39995950G>C	ENST00000205143.4	+	6	959	c.952G>C	c.(952-954)Gat>Cat	p.D318H	DLL3_ENST00000356433.5_Missense_Mutation_p.D318H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	318	EGF-like 3.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACATGTGCAGATGGACCCTG	0.617000													45	104					0	0	0.048971	0	0
OR4S1	256148	broad.mit.edu	37	11	48328337	48328337	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48328337C>T	ENST00000319988.1	+	1	563	c.563C>T	c.(562-564)gCa>gTa	p.A188V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTGGCCTGTGCAGACACCTAC	0.463000													32	23					0	0	0.045705	0	0
AHSG	197	broad.mit.edu	37	3	186337720	186337720	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:186337720C>G	ENST00000411641.2	+	6	969	c.750C>G	c.(748-750)ttC>ttG	p.F250L	AHSG_ENST00000273784.5_Missense_Mutation_p.F251L			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	250	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCATGGTGTTCCAAACACAGG	0.458000													16	49					0	0	0.038395	0	0
SCN9A	6335	broad.mit.edu	37	2	167151173	167151173	+	Splice_Site	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:167151173C>T	ENST00000375387.4	-	8	1245		c.e8-1		SCN9A_ENST00000409672.1_Splice_Site|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAAAATATTCTGTTGAAGAA	0.303000													6	31					0	0	0.021553	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27888132	27888132	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:27888132G>T	ENST00000326019.6	+	2	1273	c.991G>T	c.(991-993)Gat>Tat	p.D331Y		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	331						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGGTAGCCAAGATGATGAGAT	0.398000													21	106					5.35356e-11	6.42142e-11	0.076483	1	0
SLC38A1	81539	broad.mit.edu	37	12	46598164	46598164	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:46598164G>C	ENST00000398637.5	-	11	1436	c.742C>G	c.(742-744)Cca>Gca	p.P248A	SLC38A1_ENST00000552197.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000546893.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000439706.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000549049.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	248					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTAGCTCTGGAACAATGCAG	0.323000													29	140					0	0	0.030593	0	0
XIST	7503	broad.mit.edu	37	X	73071333	73071333	+	RNA	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:73071333T>C	ENST00000429829.1	-	0	1255					NR_001564.2																						TCCGCCATTTTGGACAACCTA	0.502000													42	253					0	0	0.048971	0	0
ACOT11	26027	broad.mit.edu	37	1	55072835	55072835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:55072835G>A	ENST00000371316.3	+	14	1481	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E467K	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	467	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCAGGTAGACGAGGACGACGC	0.647000													9	28					0	0	0.047766	0	0
CAP2	10486	broad.mit.edu	37	6	17426839	17426839	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:17426839A>G	ENST00000229922.2	+	3	672	c.140A>G	c.(139-141)gAa>gGa	p.E47G	CAP2_ENST00000378990.2_Missense_Mutation_p.E47G|CAP2_ENST00000493172.1_Missense_Mutation_p.E47G|CAP2_ENST00000489374.1_Missense_Mutation_p.E47G|CAP2_ENST00000465994.1_Missense_Mutation_p.E47G	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	47					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCCTCCGTGGAAGCCTTTGAC	0.537000													30	56					0	0	0.059317	0	0
TRIM38	10475	broad.mit.edu	37	6	25972225	25972225	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:25972225G>A	ENST00000357085.3	+	5	1112	c.636G>A	c.(634-636)ctG>ctA	p.L212L	TRIM38_ENST00000349458.3_Silent_p.L212L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	212					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAGTAGACTGAGGGACTATG	0.488000													32	58					0	0	0.041601	0	0
KRT39	390792	broad.mit.edu	37	17	39120762	39120762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39120762C>T	ENST00000355612.2	-	2	522	c.487G>A	c.(487-489)Gag>Aag	p.E163K	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	163	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGAATTCTCGGCCTTGGTA	0.443000													38	131					0	0	0.069456	0	0
SIL1	64374	broad.mit.edu	37	5	138386694	138386694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:138386694G>A	ENST00000394817.2	-	4	425	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SIL1_ENST00000509534.1_Nonsense_Mutation_p.Q103*|SIL1_ENST00000265195.5_Nonsense_Mutation_p.Q96*|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	96	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCCAGTCTGAAGATTCAGC	0.493000									Marinesco-Sjgren syndrome				47	82					0	0	0.048971	0	0
RAD50	10111	broad.mit.edu	37	5	131925479	131925479	+	Missense_Mutation	SNP	G	G	A	rs145031602	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925479G>A	ENST00000378823.3	+	9	1803	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	RAD50_ENST00000265335.6_Missense_Mutation_p.E468K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	468					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGCAGTTGGAAGGATCTTC	0.318000								Homologous recombination					11	18					0	0	0.024245	0	0
PHF12	57649	broad.mit.edu	37	17	27235835	27235835	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27235835C>T	ENST00000332830.4	-	12	3234	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	808					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCACATGTTCACAGCTCCTC	0.507000													8	64					0	0	0.058154	0	0
RADIL	55698	broad.mit.edu	37	7	4917471	4917471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:4917471G>T	ENST00000399583.3	-	2	487	c.300C>A	c.(298-300)taC>taA	p.Y100*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Y100*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	100	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGTCCAGGGCGTACCGCTCCA	0.682000													14	95					2.61681e-11	3.14716e-11	0.020292	1	0
C6orf10	10665	broad.mit.edu	37	6	32261160	32261160	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261160C>G	ENST00000375015.4	-	26	1487	c.1287G>C	c.(1285-1287)aaG>aaC	p.K429N	C6orf10_ENST00000442822.2_Missense_Mutation_p.K421N|C6orf10_ENST00000527965.1_Missense_Mutation_p.K414N|C6orf10_ENST00000533191.1_Missense_Mutation_p.K428N|C6orf10_ENST00000447241.2_Missense_Mutation_p.K430N|C6orf10_ENST00000375007.4_Missense_Mutation_p.K428N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	430						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTGCCTCAGTCTTCTCTACTT	0.468000													39	213					0	0	0.069456	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221398	1221398	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:1221398C>T	ENST00000338555.2	+	4	1303	c.159C>T	c.(157-159)ccC>ccT	p.P53P	SCNN1D_ENST00000379116.5_Silent_p.P217P|SCNN1D_ENST00000400928.3_Silent_p.P53P|SCNN1D_ENST00000325425.8_Silent_p.P119P					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGGAGCTGCCCGCCTCGTTCC	0.697000													3	6					0	0	0.009096	0	0
TRIM35	23087	broad.mit.edu	37	8	27168708	27168708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:27168708G>C	ENST00000305364.4	-	1	128	c.45C>G	c.(43-45)ttC>ttG	p.F15L	TRIM35_ENST00000521253.1_Missense_Mutation_p.F15L	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	15					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACTCCTCCTTGAAGGAGCGGG	0.706000													5	5					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			39	25					0	0	0.039052	0	0
PHB2	11331	broad.mit.edu	37	12	7076925	7076925	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7076925G>A	ENST00000535923.1	-	6	906	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	PHB2_ENST00000440277.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R209W|PHB2_ENST00000399433.2_Missense_Mutation_p.R209W|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	209					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						AATTGGGCCCGCTGGGCCTCC	0.587000													53	193					0	0	0.048971	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506789	37506789	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:37506789G>C	ENST00000374660.1	+	39	3538	c.3439G>C	c.(3439-3441)Gaa>Caa	p.E1147Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1028Q|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1028Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAGTGTAGAAAGTAATTT	0.284000													8	30					0	0	0.047766	0	0
AFMID	125061	broad.mit.edu	37	17	76187059	76187059	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76187059G>C	ENST00000409257.5	+	2	126	c.72G>C	c.(70-72)gaG>gaC	p.E24D	AFMID_ENST00000589256.1_Missense_Mutation_p.E24D|AFMID_ENST00000327898.5_Missense_Mutation_p.E24D|AFMID_ENST00000591952.1_Missense_Mutation_p.E24D|AFMID_ENST00000586731.1_Missense_Mutation_p.E7D|AFMID_ENST00000588800.1_Missense_Mutation_p.E24D	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	24						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAGCTGGAGAATCAGTACT	0.572000													11	20					0	0	0.080935	0	0
CCDC39	339829	broad.mit.edu	37	3	180349347	180349347	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:180349347C>T	ENST00000273654.4	-	20	2779	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	CCDC39_ENST00000442201.2_Silent_p.E636E			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	636					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTCAGCTTCTCAATTTTAC	0.338000													27	20					0	0	0.108266	0	0
CDCA7	83879	broad.mit.edu	37	2	174231089	174231089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:174231089C>T	ENST00000306721.3	+	8	1217	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410101.3_Nonsense_Mutation_p.R328*|CDCA7_ENST00000410019.3_Nonsense_Mutation_p.R251*|CDCA7_ENST00000347703.3_Nonsense_Mutation_p.R293*	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	293					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTGGGGCGTTCGAGGCCAGTT	0.522000													38	71					0	0	0.064281	0	0
ITGAD	3681	broad.mit.edu	37	16	31422500	31422500	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31422500G>A	ENST00000389202.2	+	13	1509	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	487					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCAGACCCGAGGGGGCCAG	0.642000													25	97					0	0	0.099896	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35917362	35917362	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:35917362C>T	ENST00000325722.3	-	13	2163	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V80V	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	643	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTCGAGCTGCACCCCATCAG	0.507000											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	111					0	0	0.048971	0	0
GALNT3	2591	broad.mit.edu	37	2	166627186	166627186	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166627186T>A	ENST00000392701.3	-	2	800	c.25A>T	c.(25-27)Aaa>Taa	p.K9*		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	9					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTGTAATTTTACTAGTCGC	0.284000													35	46					0	0	0.069456	0	0
MKI67	4288	broad.mit.edu	37	10	129904991	129904991	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904991C>T	ENST00000368654.3	-	13	5488	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1345K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1705	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGGGACTTCAGACTTTCCC	0.468000													14	64					0	0	0.020292	0	0
PGRMC1	10857	broad.mit.edu	37	X	118374364	118374364	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:118374364G>A	ENST00000217971.7	+	2	532	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	141	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	p.D141N(1)		lung(6)	6						TGAGTACGATGACCTTTCTGA	0.483000													29	97					0	0	0.034045	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126696	37126696	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:37126696C>T	ENST00000336755.5	+	2	473	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.L122F	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	123							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTCTTCTTCTCTTCAATCTAA	0.368000													25	196					0	0	0.083992	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473242	66473242	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66473242C>T	ENST00000533211.1	-	14	2051	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E574K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E574K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	574					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACCAGCTCGTGCAGCTGC	0.667000													11	29					0	0	0.069234	0	0
GPR61	83873	broad.mit.edu	37	1	110086651	110086651	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086651C>G	ENST00000527748.1	+	2	1690	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	336						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCTTCACTTCCAACCCTTTC	0.532000													31	907					0	0	0.041601	0	0
HOXB4	3214	broad.mit.edu	37	17	46654260	46654260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46654260C>G	ENST00000332503.5	-	2	2371	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TGGGCGATCTCCACCCTCCGG	0.602000													35	136					0	0	0.064281	0	0
PAH	5053	broad.mit.edu	37	12	103246654	103246654	+	Nonsense_Mutation	SNP	G	G	A	rs5030850		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:103246654G>A	ENST00000553106.1	-	7	1253	c.781C>T	c.(781-783)Cga>Tga	p.R261*	PAH_ENST00000307000.2_Nonsense_Mutation_p.R256*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	261			R -> P (in PKU).|R -> Q (in PKU; mild; haplotypes 1,2,4,22, 24,28; dbSNP:rs5030849).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGAAGACTCGGAAGGCCAGG	0.542000													5	82					0	0	0.021553	0	0
MKI67	4288	broad.mit.edu	37	10	129904961	129904961	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904961C>T	ENST00000368654.3	-	13	5518	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1355K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1715	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGAAGAGCTCGATGAAGCCG	0.498000													15	58					0	0	0.033300	0	0
ADCK4	79934	broad.mit.edu	37	19	41206059	41206059	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41206059C>T	ENST00000324464.3	-	12	1357	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	ADCK4_ENST00000243583.6_Silent_p.T311T|ADCK4_ENST00000450541.1_Silent_p.T311T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	352	Protein kinase.		T -> R (in dbSNP:rs36012476).			integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCAGACACAGCGTCAGGAGCT	0.557000													21	24					0	0	0.055883	0	0
DDHD1	80821	broad.mit.edu	37	14	53539349	53539349	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:53539349A>C	ENST00000357758.3	-	6	1652	c.1469T>G	c.(1468-1470)aTa>aGa	p.I490R	DDHD1_ENST00000323669.5_Missense_Mutation_p.I490R|DDHD1_ENST00000395606.1_Missense_Mutation_p.I497R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	490					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATAATACATTATGTCCATTGC	0.338000													17	52					0	0	0.033300	0	0
GRM2	2912	broad.mit.edu	37	3	51751819	51751819	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:51751819C>T	ENST00000395052.3	+	5	2765	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.S566F	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	844					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGGGCCAGCTCCAGCCTTGGC	0.627000													13	44					0	0	0.105934	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000													3	27					0	0	0.004672	0	0
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:29576387G>A	ENST00000377034.4	-	16	2318	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	GABBR1_ENST00000355973.3_Silent_p.F544F|GABBR1_ENST00000377016.4_Silent_p.F599F|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.F544F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	661					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.F661F(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCTGGCAGACGAAAGGAAACT	0.547000													15	73					0	0	0.024245	0	0
KDM1A	23028	broad.mit.edu	37	1	23408824	23408824	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:23408824A>G	ENST00000400181.4	+	20	2514	c.2410A>G	c.(2410-2412)Atc>Gtc	p.I804V	KDM1A_ENST00000356634.3_Missense_Mutation_p.I780V|KDM1A_ENST00000542151.1_Missense_Mutation_p.I804V|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	780	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						GGCTCAGCCAATCACTCCTGG	0.527000													19	51					0	0	0.049695	0	0
WDR33	55339	broad.mit.edu	37	2	128464101	128464101	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128464101C>G	ENST00000322313.4	-	22	3965	c.3807G>C	c.(3805-3807)caG>caC	p.Q1269H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1269					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)		TGGGCACTCTCTGAGCAGGTC	0.517000													17	79					0	0	0.033300	0	0
DGKH	160851	broad.mit.edu	37	13	42623082	42623082	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:42623082C>G	ENST00000261491.5	+	1	194	c.173C>G	c.(172-174)tCg>tGg	p.S58W	DGKH_ENST00000540693.1_Missense_Mutation_p.S58W|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.S58W	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGTCTACCTCGGGGCAGATC	0.706000													2	6					0	0	0.004672	0	0
COL6A6	131873	broad.mit.edu	37	3	130289928	130289928	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:130289928G>A	ENST00000358511.6	+	6	2699	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E890K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	890	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATACTGCTGAGGCACTGGG	0.537000													4	22					0	0	0.009096	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140711698G>A	ENST00000517417.1	+	1	1447	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E483K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCAATGAGAATGCACA	0.537000													39	97					0	0	0.092188	0	0
SPAG4	6676	broad.mit.edu	37	20	34206013	34206013	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:34206013C>G	ENST00000374273.3	+	5	655	c.543C>G	c.(541-543)ttC>ttG	p.F181L	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	181					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGCATTCTGGCTGGGGC	0.557000													23	105					0	0	0.108266	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	79					0	0	0.014758	0	0
CARD10	29775	broad.mit.edu	37	22	37898637	37898637	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:37898637G>A	ENST00000403299.1	-	12	1975	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	CARD10_ENST00000406271.3_Missense_Mutation_p.R301W|CARD10_ENST00000251973.5_Missense_Mutation_p.R587W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	587					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R587G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCACAGCCCCGAGCCAGGAGG	0.617000													13	41					0	0	0.105934	0	0
KLHL12	59349	broad.mit.edu	37	1	202880307	202880307	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880307C>G	ENST00000367261.3	-	5	810	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	KLHL12_ENST00000435533.3_Missense_Mutation_p.E236Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	198				FE -> LG (in Ref. 3; BAD96792).	Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGACAGCCTCAAAGACTGGC	0.473000													87	132					0	0	0.048971	0	0
WLS	79971	broad.mit.edu	37	1	68697918	68697918	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:68697918A>T	ENST00000262348.4	-	1	318	c.65T>A	c.(64-66)cTc>cAc	p.L22H	WLS_ENST00000540432.1_Missense_Mutation_p.L22H|WLS_ENST00000370976.3_Missense_Mutation_p.L22H|WLS_ENST00000354777.2_Missense_Mutation_p.L22H|WLS_ENST00000370971.1_Missense_Mutation_p.L22H	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	22					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TTGGAACACGAGCAGAATCCC	0.488000													15	72					0	0	0.049695	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784028	156784028	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:156784028C>T	ENST00000392306.2	-	4	536	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E105K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E123K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	123	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGCGCTCTCGCTGAACCGC	0.692000													7	40					0	0	0.047766	0	0
HK1	3098	broad.mit.edu	37	10	71144659	71144659	+	Silent	SNP	G	G	A	rs148999865		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:71144659G>A	ENST00000448642.2	+	17	2321	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Silent_p.T609T|HK1_ENST00000298649.3_Silent_p.T608T|HK1_ENST00000360289.2_Silent_p.T597T|HK1_ENST00000404387.2_Silent_p.T613T			P19367	HXK1_HUMAN	hexokinase 1	609	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.T608T(1)|p.T613T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCCAGCAGACGAGTCTGGACG	0.587000													9	173					0	0	0.047766	0	0
ITGA4	3676	broad.mit.edu	37	2	182360109	182360109	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:182360109G>C	ENST00000397033.2	+	13	1781	c.1351G>C	c.(1351-1353)Ggt>Cgt	p.G451R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	451					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)	TGTAGCAGTTGGTGCTTTTCG	0.348000													40	75					0	0	0.111260	0	0
RPGR	6103	broad.mit.edu	37	X	38147258	38147258	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:38147258C>T	ENST00000378505.2	-	14	1785	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T	RPGR_ENST00000342811.3_Missense_Mutation_p.A537T|RPGR_ENST00000318842.7_Missense_Mutation_p.A537T|RPGR_ENST00000309513.3_Missense_Mutation_p.A475T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.A537T|RPGR_ENST00000338898.3_3'UTR	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	537	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCAGTAAGAGCTGTATCCTGC	0.338000													23	52					0	0	0.069288	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155170	38155170	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:38155170C>T	ENST00000406386.3	+	17	6478	c.6223C>T	c.(6223-6225)Ctt>Ttt	p.L2075F	TRIOBP_ENST00000403663.2_Missense_Mutation_p.L362F|TRIOBP_ENST00000407319.2_Missense_Mutation_p.L362F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2075					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGTTCAGGCTCTTCGGGCCCA	0.652000													5	28					0	0	0.021553	0	0
KLHL12	59349	broad.mit.edu	37	1	202880190	202880190	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880190C>G	ENST00000367261.3	-	5	927	c.709G>C	c.(709-711)Gat>Cat	p.D237H	KLHL12_ENST00000435533.3_Missense_Mutation_p.D275H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	237					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTCAGCATCTATTACATCT	0.438000													86	122					0	0	0.048971	0	0
TSC1	7248	broad.mit.edu	37	9	135778175	135778175	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135778175C>G	ENST00000298552.3	-	18	2430		c.e18-1		TSC1_ENST00000440111.2_Splice_Site|TSC1_ENST00000545250.1_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGATCTTTCTAGCAGAGAC	0.423000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	24					0	0	0.039052	0	0
MLH1	4292	broad.mit.edu	37	3	37092133	37092133	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:37092133G>C	ENST00000231790.2	+	19	2476	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	MLH1_ENST00000539477.1_Missense_Mutation_p.E513Q|MLH1_ENST00000435176.1_Missense_Mutation_p.E656Q|MLH1_ENST00000458205.2_Missense_Mutation_p.E513Q|MLH1_ENST00000455445.2_Missense_Mutation_p.E513Q|MLH1_ENST00000536378.1_Intron	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	754					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CAAAGTCTTTGAGAGGTGTTA	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	51					0	0	0.020292	0	0
DNAH17	8632	broad.mit.edu	37	17	76435210	76435210	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76435210C>T	ENST00000389840.5	-	73	11849	c.11725G>A	c.(11725-11727)Gac>Aac	p.D3909N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D3918N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCACGTCCAGGGCGTTC	0.552000													14	45					0	0	0.020292	0	0
SETX	23064	broad.mit.edu	37	9	135205429	135205429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135205429G>A	ENST00000372169.2	-	10	1738	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	SETX_ENST00000393220.1_Missense_Mutation_p.S519F|SETX_ENST00000224140.5_Missense_Mutation_p.S519F			Q7Z333	SETX_HUMAN	senataxin	519					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACAGTGAAGATATCATTGC	0.448000													5	142					0	0	0.014758	0	0
ECM1	1893	broad.mit.edu	37	1	150482400	150482400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:150482400C>T	ENST00000369047.4	+	4	351	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Nonsense_Mutation_p.Q76*|ECM1_ENST00000369049.4_Nonsense_Mutation_p.Q103*	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	76					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTATAGTGCAGCCCCCTCC	0.617000													12	75					0	0	0.080935	0	0
IGBP1	3476	broad.mit.edu	37	X	69353901	69353901	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:69353901C>T	ENST00000342206.6	+	1	603	c.104C>T	c.(103-105)tCc>tTc	p.S35F	IGBP1_ENST00000356413.4_Missense_Mutation_p.S35F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	35					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CCCGCCGGTTCCCGGATAGTC	0.562000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	39					0	0	0.043863	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358897	21358897	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:21358897A>G	ENST00000256958.2	+	11	1523	c.1427A>G	c.(1426-1428)aAc>aGc	p.N476S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	476	Kazal-like.				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)	GTCTGTGGAAACAATGGAATA	0.383000													15	49					0	0	0.020292	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958378	122958378	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:122958378G>A	ENST00000543897.1	-	12	3431	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S208F|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.S597F|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S359F			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	597						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGGACTGGAGGCATGTCC	0.488000													52	201					0	0	0.048971	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983432	17983432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983432G>A	ENST00000222248.3	+	1	651	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	102			A -> P.		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGTCCTCACCGCCCTGCTCTT	0.662000													5	72					0	0	0.029380	0	0
RAD50	10111	broad.mit.edu	37	5	131925368	131925368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925368G>C	ENST00000378823.3	+	9	1692	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	RAD50_ENST00000265335.6_Missense_Mutation_p.E431Q	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	431					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGATAGATGAGATAAGAGA	0.284000								Homologous recombination					7	20					0	0	0.038147	0	0
STARD6	147323	broad.mit.edu	37	18	51851180	51851180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:51851180G>C	ENST00000581310.1	-	9	918	c.545C>G	c.(544-546)tCa>tGa	p.S182*	STARD6_ENST00000307844.3_Nonsense_Mutation_p.S182*|STARD6_ENST00000580990.2_Nonsense_Mutation_p.S58*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	182	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTCAATTATTGATGGGGACAA	0.358000													8	41					0	0	0.047766	0	0
PARD3B	117583	broad.mit.edu	37	2	206480357	206480357	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:206480357G>A	ENST00000406610.2	+	23	3645	c.3438G>A	c.(3436-3438)ccG>ccA	p.P1146P	PARD3B_ENST00000349953.3_Silent_p.P1045P|PARD3B_ENST00000351153.1_Silent_p.P1077P|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Silent_p.P1084P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1146	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCCACCCCCGCCAGCTCCCC	0.617000													22	76					0	0	0.062417	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567199	99567199	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:99567199G>A	ENST00000331335.5	-	5	3791	c.3321C>T	c.(3319-3321)gtC>gtT	p.V1107V	FILIP1L_ENST00000487087.1_Silent_p.V683V|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.V867V|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.V1107V|FILIP1L_ENST00000471562.1_Silent_p.V867V	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1107						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						TACTGCTGGTGACTTTATTGG	0.458000													37	153					0	0	0.069456	0	0
KMT2D	8085	broad.mit.edu	37	12	49434818	49434818	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:49434818G>C	ENST00000301067.7	-	31	6734	c.6735C>G	c.(6733-6735)ctC>ctG	p.L2245L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCGGGGTTTGAGGAATGGGT	0.657000													18	52					0	0	0.043863	0	0
KCNA10	3744	broad.mit.edu	37	1	111061247	111061247	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:111061247C>T	ENST00000369771.2	-	1	550	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	55						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTGGTGCTTTCGCTGATGAGG	0.582000													14	79					0	0	0.020292	0	0
MYOM3	127294	broad.mit.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:24419481G>A	ENST00000330966.7	-	10	1211	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.S349L|MYOM3_ENST00000329601.7_Missense_Mutation_p.S349L			Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.									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)		TCCGAAGGGCGAGGGCACCCG	0.642000													9	28					0	0	0.047766	0	0
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:159547979G>A	ENST00000307765.5	+	10	1014	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.E222K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E255K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E174K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264000													10	14					0	0	0.069234	0	0
IQCB1	9657	broad.mit.edu	37	3	121491405	121491405	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:121491405C>G	ENST00000310864.6	-	14	1780	c.1566G>C	c.(1564-1566)atG>atC	p.M522I	IQCB1_ENST00000349820.6_Splice_Site_p.M389I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	522					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGCACATACTCATTAGCTGTT	0.443000													25	103					0	0	0.034045	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683979	33683979	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:33683979G>A	ENST00000504830.1	-	4	1151	c.816C>T	c.(814-816)ctC>ctT	p.L272L	ADAMTS12_ENST00000352040.3_Silent_p.L272L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	272	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATGATGGTGAGGATGTAGG	0.468000										HNSCC(64;0.19)			30	83					0	0	0.050027	0	0
RBM41	55285	broad.mit.edu	37	X	106359927	106359927	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:106359927C>T	ENST00000372487.1	-	2	104	c.78G>A	c.(76-78)ctG>ctA	p.L26L	RBM41_ENST00000372479.3_Silent_p.L26L|RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Silent_p.L26L	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	26							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGAGGCTTTTCAGCTGCCTCT	0.443000													18	42					0	0	0.055883	0	0
MTUS1	57509	broad.mit.edu	37	8	17611429	17611429	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:17611429C>T	ENST00000381869.3	-	2	2361	c.1888G>A	c.(1888-1890)Gtt>Att	p.V630I	MTUS1_ENST00000519263.1_Missense_Mutation_p.V630I|MTUS1_ENST00000262102.6_Missense_Mutation_p.V630I|MTUS1_ENST00000381862.3_Missense_Mutation_p.V630I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	630						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AACGCAGAAACGGACCCGGTC	0.438000													5	92					0	0	0.021553	0	0
EHMT2	10919	broad.mit.edu	37	6	31847893	31847893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31847893C>G	ENST00000395728.3	-	27	3771	c.3772G>C	c.(3772-3774)Gag>Cag	p.E1258Q	EHMT2_ENST00000375537.4_Missense_Mutation_p.E1201Q|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.E1224Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.E1167Q			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1201					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGCCGAGCTCGGGCAGCAGC	0.652000													5	45					0	0	0.014758	0	0
OR2W5	441932	broad.mit.edu	37	1	247654547	247654547	+	RNA	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:247654547G>A	ENST00000522351.1	+	0	178							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)			CCTGACCCTGGTGGGCAACAC	0.488000													5	85					0	0	0.014758	0	0
PCDH20	64881	broad.mit.edu	37	13	61987145	61987145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:61987145C>T	ENST00000409186.1	-	5	3192	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	PCDH20_ENST00000409204.4_Missense_Mutation_p.V363I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCTTGTGGAACTTTCTGACTG	0.433000													31	76					0	0	0.041601	0	0
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:16337172C>T	ENST00000400202.1	-	3	4054	c.3342G>A	c.(3340-3342)acG>acA	p.T1114T	NRIP1_ENST00000400199.1_Silent_p.T1114T|NRIP1_ENST00000318948.4_Silent_p.T1114T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.T1114T(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438000													53	85					0	0	0.048971	0	0
CD248	57124	broad.mit.edu	37	11	66083095	66083095	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66083095C>T	ENST00000311330.3	-	1	1420	c.1404G>A	c.(1402-1404)gtG>gtA	p.V468V	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	468	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGCAGGGATCACAGGAGGCT	0.622000													34	125					0	0	0.080422	0	0
CD97	976	broad.mit.edu	37	19	14517528	14517528	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:14517528G>C	ENST00000242786.5	+	16	2145	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	CD97_ENST00000358600.3_Missense_Mutation_p.E596Q|CD97_ENST00000357355.3_Missense_Mutation_p.E640Q|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	689					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGACTTTGAGCAGGGCTT	0.622000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	191					0	0	0.069456	0	0
CRYAA	1409	broad.mit.edu	37	21	44592274	44592274	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:44592274G>T	ENST00000291554.2	+	3	498	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	CRYAA_ENST00000398133.1_Missense_Mutation_p.D116Y|CRYAA_ENST00000398132.1_Missense_Mutation_p.D99Y|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	136					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCTGTCTGCCGATGGCATGCT	0.657000													17	74					0.000422831	0.000492757	0.028581	1	0
DGKD	8527	broad.mit.edu	37	2	234358738	234358738	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:234358738G>A	ENST00000264057.2	+	16	2011	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	DGKD_ENST00000409813.3_Missense_Mutation_p.E623K	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCCACAGCGAGAGCTTCGG	0.622000													6	38					0	0	0.038147	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745310	140745310	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140745310C>G	ENST00000518069.1	+	1	1413	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTCTATCTTCTCTGTGA	0.542000													33	120					0	0	0.054565	0	0
SNAP91	9892	broad.mit.edu	37	6	84303326	84303326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:84303326G>C	ENST00000428679.2	-	18	2160	c.1567C>G	c.(1567-1569)Cct>Gct	p.P523A	SNAP91_ENST00000521743.1_Missense_Mutation_p.P523A|SNAP91_ENST00000520302.1_Missense_Mutation_p.P521A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P523A|SNAP91_ENST00000439399.2_Missense_Mutation_p.P523A|SNAP91_ENST00000195649.6_Missense_Mutation_p.P523A|SNAP91_ENST00000521485.1_Missense_Mutation_p.P523A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	523	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		gcaggagaaggagcagTTGCG	0.622000													3	6					0	0	0.014758	0	0
STIP1	10963	broad.mit.edu	37	11	63971071	63971071	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:63971071G>A	ENST00000358794.5	+	13	2230	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	STIP1_ENST00000538945.1_Silent_p.Q488Q|STIP1_ENST00000305218.4_Silent_p.Q512Q	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	512					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AACAGATGCAGAAGGACCCCC	0.597000													10	43					0	0	0.069234	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													25	20					0	0	0.030593	0	0
CHST1	8534	broad.mit.edu	37	11	45671793	45671793	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:45671793G>C	ENST00000308064.2	-	4	1351	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	227					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGACCTTGAGGTTTAATC	0.687000													19	26					0	0	0.043863	0	0
C9orf172	389813	broad.mit.edu	37	9	139739870	139739870	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139739870C>T	ENST00000436881.1	+	1	1004	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	335	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						CGCACCTTCCCAATCCAGGAA	0.692000													6	22					0	0	0.021553	0	0
SAMD4A	23034	broad.mit.edu	37	14	55203778	55203778	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:55203778G>C	ENST00000392067.3	+	3	752	c.752G>C	c.(751-753)cGa>cCa	p.R251P	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R251P|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R250P	NM_015589.5	NP_056404.4	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	251					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCTTTGAAACGATCTGTGTCC	0.502000													69	135					0	0	0.048971	0	0
EPN3	55040	broad.mit.edu	37	17	48618226	48618226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48618226C>T	ENST00000541226.1	+	6	1044	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	EPN3_ENST00000268933.3_Missense_Mutation_p.S351L|EPN3_ENST00000537145.1_Missense_Mutation_p.S379L			Q9H201	EPN3_HUMAN	epsin 3	422						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCGATCCCCTCAGGAACCGTC	0.632000													12	43					0	0	0.093190	0	0
WDR12	55759	broad.mit.edu	37	2	203765749	203765749	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203765749G>A	ENST00000261015.4	-	3	979	c.230C>T	c.(229-231)tCa>tTa	p.S77L	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12						cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGAACTTACTGATGAGATGTT	0.383000													6	33					0	0	0.021553	0	0
FKBP10	60681	broad.mit.edu	37	17	39973408	39973408	+	Missense_Mutation	SNP	G	G	A	rs137853882		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39973408G>A	ENST00000321562.4	+	2	448	c.344G>A	c.(343-345)cGa>cAa	p.R115Q		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	115	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AACGAGCGGCGACGCCTCATT	0.647000													16	68					0	0	0.024245	0	0
CNTD2	79935	broad.mit.edu	37	19	40729535	40729535	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:40729535C>T	ENST00000433940.1	-	3	486	c.438G>A	c.(436-438)cgG>cgA	p.R146R	CNTD2_ENST00000430325.2_Intron|CNTD2_ENST00000513948.1_Intron			B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	0					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						gccccaagttccggacctcag	0.592000													55	88					0	0	0.048971	0	0
CELF2	10659	broad.mit.edu	37	10	11207533	11207533	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:11207533G>A	ENST00000379261.4	+	2	230	c.138G>A	c.(136-138)caG>caA	p.Q46Q	CELF2_ENST00000608830.1_Silent_p.Q22Q|CELF2_ENST00000315874.4_Silent_p.Q22Q|CELF2_ENST00000542579.1_Silent_p.Q53Q|CELF2_ENST00000417956.2_Silent_p.Q22Q|CELF2_ENST00000427450.1_Silent_p.Q22Q|CELF2_ENST00000354440.2_Silent_p.Q22Q|CELF2_ENST00000399850.3_Silent_p.Q22Q|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000354897.3_Silent_p.Q22Q|CELF2_ENST00000450189.1_Silent_p.Q53Q|CELF2_ENST00000609692.1_Silent_p.Q22Q|CELF2_ENST00000416382.2_Silent_p.Q46Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	46	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGTCGGACAGATCCCCCGGT	0.522000													27	91					0	0	0.099896	0	0
POLE	5426	broad.mit.edu	37	12	133210898	133210898	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:133210898C>G	ENST00000320574.5	-	43	5921	c.5878G>C	c.(5878-5880)Gat>Cat	p.D1960H	POLE_ENST00000535270.1_Missense_Mutation_p.D1933H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1960					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		tcctccccatctctttcctcc	0.522000								DNA polymerases (catalytic subunits)					17	62					0	0	0.038395	0	0
SETD5	55209	broad.mit.edu	37	3	9517349	9517349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:9517349C>A	ENST00000402466.1	+	24	4377	c.3609C>A	c.(3607-3609)agC>agA	p.S1203R	SETD5_ENST00000407969.1_Missense_Mutation_p.S1320R|SETD5_ENST00000402198.1_Missense_Mutation_p.S1301R|SETD5_ENST00000302463.6_Missense_Mutation_p.S1203R|SETD5_ENST00000406341.1_Missense_Mutation_p.S1301R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1301	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTATTCCAGCCCCGCCCACC	0.547000													13	52					6.94344e-10	8.28437e-10	0.038395	1	0
FOXJ2	55810	broad.mit.edu	37	12	8205417	8205417	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:8205417G>C	ENST00000162391.3	+	11	2841	c.1696G>C	c.(1696-1698)Gat>Cat	p.D566H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	566					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGAGATCCCTGATGACTTCGA	0.532000													4	11					0	0	0.009096	0	0
MUC13	56667	broad.mit.edu	37	3	124646788	124646788	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:124646788C>G	ENST00000311075.3	-	2	140	c.102G>C	c.(100-102)gcG>gcC	p.A34A	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	34	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GACCACTAGTCGCAGTTTCTG	0.453000													25	100					0	0	0.091800	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000													7	42					0	0	0.029380	0	0
KIAA0947	23379	broad.mit.edu	37	5	5489267	5489267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:5489267C>T	ENST00000296564.7	+	19	6847	c.6625C>T	c.(6625-6627)Cca>Tca	p.P2209S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2209										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAGATATACCATGGGGTAT	0.383000													7	42					0	0	0.038147	0	0
GPR61	83873	broad.mit.edu	37	1	110086421	110086421	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086421C>G	ENST00000527748.1	+	2	1460	c.777C>G	c.(775-777)ctC>ctG	p.L259L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	259						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGAATCTCTCAGCAGCCGCT	0.672000													25	727					0	0	0.083992	0	0
GDF3	9573	broad.mit.edu	37	12	7842947	7842947	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7842947C>G	ENST00000329913.3	-	2	669	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	208					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTCTATCTTCTTTGACCAGT	0.493000													23	49					0	0	0.062417	0	0
ACACA	31	broad.mit.edu	37	17	35479509	35479509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:35479509G>A	ENST00000353139.5	-	49	6563	c.6082C>T	c.(6082-6084)Cga>Tga	p.R2028*	ACACA_ENST00000394406.2_Nonsense_Mutation_p.R1991*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R1913*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R1933*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.R117*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1991	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTACTGTTCGGGTTTCTACA	0.463000													24	117					0	0	0.099896	0	0
AGAP1	116987	broad.mit.edu	37	2	236617866	236617866	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:236617866C>T	ENST00000304032.8	+	2	787	c.207C>T	c.(205-207)gtC>gtT	p.V69V	AGAP1_ENST00000409457.1_Silent_p.V69V|AGAP1_ENST00000336665.5_Silent_p.V69V|AGAP1_ENST00000409538.1_Silent_p.V334V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCGATCTGTCCCGGAGCTCA	0.557000													43	151					0	0	0.048971	0	0
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:160431725C>A	ENST00000356956.1	+	4	569	c.421C>A	c.(421-423)Cct>Act	p.P141T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	141					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGGAACTCCTGAATTTGT	0.333000													9	33					9.70103e-10	1.1544e-09	0.069234	1	0
RGMB	285704	broad.mit.edu	37	5	98115321	98115321	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:98115321A>G	ENST00000308234.7	+	4	699	c.297A>G	c.(295-297)aaA>aaG	p.K99K	RGMB_ENST00000513185.1_Silent_p.K58K|RGMB_ENST00000504776.1_3'UTR	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	58					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAATCCAGAAATGCACCACGG	0.493000													91	82					0	0	0.048971	0	0
HYDIN	54768	broad.mit.edu	37	16	70908274	70908274	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:70908274C>T	ENST00000393567.2	-	64	11032	c.10882G>A	c.(10882-10884)Gaa>Aaa	p.E3628K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3628										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTATGTCTTCCTGGCTGGTG	0.507000													19	223					0	0	0.076483	0	0
KRT73	319101	broad.mit.edu	37	12	53004528	53004528	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:53004528C>T	ENST00000305748.3	-	7	1236	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	401	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCAGGGCGCCCTCCAGCTC	0.637000													13	69					0	0	0.020292	0	0
RNF6	6049	broad.mit.edu	37	13	26793668	26793668	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:26793668T>C	ENST00000381588.4	-	3	871	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Y40C|RNF6_ENST00000381570.3_Missense_Mutation_p.Y40C|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	40					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTGATAATAGGCCTCTTC	0.408000													29	67					0	0	0.030593	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770988	145770988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145770988C>G	ENST00000276826.5	-	5	2367	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.W722C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.W722C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	722	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACTCGCTGCTCCAGGCCAGCA	0.592000													12	33					0	0	0.093190	0	0
MCM8	84515	broad.mit.edu	37	20	5937835	5937835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937835G>A	ENST00000378896.3	+	6	927	c.550G>A	c.(550-552)Gat>Aat	p.D184N	MCM8_ENST00000378886.2_Missense_Mutation_p.D184N|MCM8_ENST00000378883.1_Missense_Mutation_p.D184N|MCM8_ENST00000265187.4_Missense_Mutation_p.D184N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	184					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATTGTCTAATGATGGAGAAAC	0.383000													6	36					0	0	0.038147	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:102738085G>C	ENST00000210633.3	+	5	547	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157Q|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157Q			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000													6	20					0	0	0.021553	0	0
PTPRO	5800	broad.mit.edu	37	12	15733754	15733754	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15733754G>C	ENST00000281171.4	+	22	3451	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E230Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1013Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E202Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E202Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E230Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1041	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCAGTGTAATGAGAAAAGGAG	0.463000													13	54					0	0	0.020292	0	0
DNAH11	8701	broad.mit.edu	37	7	21920409	21920409	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:21920409G>A	ENST00000328843.6	+	76	12337	c.12306G>A	c.(12304-12306)ctG>ctA	p.L4102L	DNAH11_ENST00000409508.3_Silent_p.L4095L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4102	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGGAGACTGAGGTTTGGCC	0.478000									Kartagener syndrome				39	117					0	0	0.092188	0	0
CASZ1	54897	broad.mit.edu	37	1	10715772	10715772	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:10715772G>A	ENST00000377022.3	-	9	1916	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D	CASZ1_ENST00000344008.5_Silent_p.D533D	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTGCAGTCGTCCAGCGGGC	0.612000													10	47					0	0	0.058154	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100797	74100797	+	Missense_Mutation	SNP	C	C	T	rs147227290		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:74100797C>T	ENST00000338820.3	-	4	840	c.691G>A	c.(691-693)Gac>Aac	p.D231N	DNAJB12_ENST00000444643.2_Missense_Mutation_p.D197N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.D231N|DNAJB12_ENST00000461919.1_5'UTR	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	197					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GGGGAGATGTCGGCCTCAAAG	0.607000													9	36					0	0	0.047766	0	0
TNK2	10188	broad.mit.edu	37	3	195594701	195594701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:195594701G>C	ENST00000333602.6	-	12	3040	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*	TNK2_ENST00000381916.2_Nonsense_Mutation_p.S886*|TNK2_ENST00000428187.1_Nonsense_Mutation_p.S840*|TNK2_ENST00000392400.1_Nonsense_Mutation_p.S808*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	808	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGTGAGCTTGAGAGCCGGGG	0.711000													7	41					0	0	0.038147	0	0
CDH11	1009	broad.mit.edu	37	16	64981702	64981702	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:64981702G>T	ENST00000268603.4	-	13	2810	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	CDH11_ENST00000566827.1_Missense_Mutation_p.P606H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	732					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGAGCCGTGGGGTCATTGTC	0.562000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			151	79					1.50598e-64	1.86081e-64	0.048971	1	0
NUP205	23165	broad.mit.edu	37	7	135262738	135262738	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:135262738C>T	ENST00000285968.6	+	6	869	c.843C>T	c.(841-843)atC>atT	p.I281I	NUP205_ENST00000440390.2_Silent_p.I75I	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	281					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTTTGATATCAGTTTTATAG	0.363000													10	52					0	0	0.069234	0	0
GPR61	83873	broad.mit.edu	37	1	110086532	110086532	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086532C>T	ENST00000527748.1	+	2	1571	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGACAGTTCCTGCTCTGTT	0.607000													24	536					0	0	0.076483	0	0
NUDT19	390916	broad.mit.edu	37	19	33202726	33202726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:33202726G>T	ENST00000397061.3	+	3	991	c.991G>T	c.(991-993)Gaa>Taa	p.E331*		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	331						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AAAGACTGAGGAAATCATGAA	0.348000													11	60					1.58986e-06	1.86726e-06	0.069234	1	0
GPR61	83873	broad.mit.edu	37	1	110086715	110086715	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086715C>G	ENST00000527748.1	+	2	1754	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAGTTTGTCTGCTTCTTCA	0.562000													16	498					0	0	0.038395	0	0
RANBP2	5903	broad.mit.edu	37	2	109384816	109384816	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:109384816C>G	ENST00000283195.6	+	20	7947	c.7821C>G	c.(7819-7821)atC>atG	p.I2607M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2607					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATCTTCAATCAACTACACAT	0.328000													69	220					0	0	0.048971	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918001	48918001	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48918001G>C	ENST00000311378.4	+	2	1880	c.1352G>C	c.(1351-1353)cGg>cCg	p.R451P	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R358P	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	451	NTR.					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)			TGCAAGCCTCGGCAGAAGCTC	0.647000													6	81					0	0	0.021553	0	0
RALBP1	10928	broad.mit.edu	37	18	9535846	9535846	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:9535846G>C	ENST00000019317.4	+	10	2102	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	RALBP1_ENST00000383432.3_Missense_Mutation_p.E627Q			Q15311	RBP1_HUMAN	ralA binding protein 1	627					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CGGCGTCCTTGAGCCAAAAGC	0.657000													4	9					0	0	0.014758	0	0
DISP2	85455	broad.mit.edu	37	15	40659556	40659556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:40659556C>G	ENST00000267889.3	+	8	1330	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	415					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGCACTTTCTGCTTGACAG	0.587000													86	276					0	0	0.048971	0	0
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:62845433C>G	ENST00000512091.2	+	17	3501	c.2754C>G	c.(2752-2754)atC>atG	p.I918M	LPHN3_ENST00000504896.1_Missense_Mutation_p.I918M|LPHN3_ENST00000514996.1_Missense_Mutation_p.I918M|LPHN3_ENST00000514591.1_Missense_Mutation_p.I918M|LPHN3_ENST00000545650.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506720.1_Missense_Mutation_p.I986M|LPHN3_ENST00000507625.1_Missense_Mutation_p.I986M|LPHN3_ENST00000508693.1_Missense_Mutation_p.I986M|LPHN3_ENST00000506700.1_Missense_Mutation_p.I918M|LPHN3_ENST00000508946.1_Missense_Mutation_p.I918M|LPHN3_ENST00000511324.1_Missense_Mutation_p.I986M|LPHN3_ENST00000509896.1_Missense_Mutation_p.I986M|LPHN3_ENST00000506746.1_Missense_Mutation_p.I986M|LPHN3_ENST00000507164.1_Missense_Mutation_p.I986M|LPHN3_ENST00000514157.1_Missense_Mutation_p.I918M			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTCTGCATCAGTCTCTTTG	0.458000													13	184					0	0	0.020292	0	0
LRP1B	53353	broad.mit.edu	37	2	140990860	140990860	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:140990860T>C	ENST00000389484.3	-	91	14666	c.13695A>G	c.(13693-13695)ttA>ttG	p.L4565L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4565					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATATATAATTTTGCAT	0.333000										TSP Lung(27;0.18)			26	14					0	0	0.034045	0	0
ITGA5	3678	broad.mit.edu	37	12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:54799103G>A	ENST00000293379.4	-	12	1333	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	358					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTGAGGCCGCCCGTCAGGG	0.647000													6	26					0	0	0.021553	0	0
MPDZ	8777	broad.mit.edu	37	9	13176368	13176368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:13176368G>C	ENST00000319217.7	-	20	2945	c.2698C>G	c.(2698-2700)Ctg>Gtg	p.L900V	MPDZ_ENST00000381022.2_Missense_Mutation_p.L900V|MPDZ_ENST00000381015.4_Missense_Mutation_p.L900V|MPDZ_ENST00000447879.1_Missense_Mutation_p.L900V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L900V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L900V|MPDZ_ENST00000541718.1_Missense_Mutation_p.L900V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	900					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)		AGTTCCTCCAGAGACATATGC	0.378000													4	26					0	0	0.009096	0	0
RECQL4	9401	broad.mit.edu	37	8	145737627	145737627	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145737627C>T	ENST00000428558.2	-	19	3177	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1046					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	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)			TCCTTCTCCTCAGCGGTCAAG	0.637000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				11	37					0	0	0.105934	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84657546	84657546	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:84657546G>A	ENST00000286744.5	+	22	4044	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1274K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1274	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGATGTGGAAAGTTCTTC	0.318000													9	64					0	0	0.080935	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124236904	124236904	+	Silent	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:124236904A>T	ENST00000330342.3	+	17	2378	c.2130A>T	c.(2128-2130)ggA>ggT	p.G710G		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	710					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGAAGAGGGAAATCACCAGG	0.398000													12	48					0	0	0.093190	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689640	33689640	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:33689640C>T	ENST00000269187.5	-	10	2397	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	SLC39A6_ENST00000590986.1_Silent_p.Q728Q	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	728						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCCCAGCATTCTGTAAAAAGA	0.343000													32	166					0	0	0.059317	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973649	228973649	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228973649G>A	ENST00000392056.3	-	3	191	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R49C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	49						cytoplasm	protein binding	p.R49C(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTGCTGCGAAGAACCTGG	0.413000													46	67					0	0	0.042209	0	0
CACNG4	27092	broad.mit.edu	37	17	64961035	64961035	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:64961035G>C	ENST00000262138.3	+	1	10	c.8G>C	c.(7-9)cGa>cCa	p.R3P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	3					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCATGGTGCGATGCGACCGC	0.761000													5	8					0	0	0.014758	0	0
SCML2	10389	broad.mit.edu	37	X	18283889	18283889	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:18283889G>A	ENST00000251900.4	-	8	923	c.764C>T	c.(763-765)tCt>tTt	p.S255F	SCML2_ENST00000398048.3_5'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	255					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			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)					GGAAGGAGAAGACTCTGTTTT	0.363000													24	26					0	0	0.069288	0	0
IFT81	28981	broad.mit.edu	37	12	110581342	110581342	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:110581342G>C	ENST00000242591.5	+	9	1443	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	IFT81_ENST00000361948.4_Missense_Mutation_p.E313Q|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000552912.1_Missense_Mutation_p.E313Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	313					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCTTGAACTTGAATCTAAAGT	0.308000													22	115					0	0	0.083992	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856191	54856191	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54856191C>T	ENST00000333896.5	+	13	2266	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	SPTBN1_ENST00000356805.4_Silent_p.L640L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	640					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCGCCGCCTCTGGAAGTTCT	0.592000													37	132					0	0	0.086207	0	0
DIDO1	11083	broad.mit.edu	37	20	61537316	61537316	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:61537316G>A	ENST00000266070.4	-	6	1836	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	DIDO1_ENST00000266071.5_Missense_Mutation_p.S504L|DIDO1_ENST00000395343.1_Missense_Mutation_p.S504L|DIDO1_ENST00000370366.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395340.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395335.2_Missense_Mutation_p.S504L|DIDO1_ENST00000370368.1_Missense_Mutation_p.S504L|DIDO1_ENST00000354665.4_Missense_Mutation_p.S504L|DIDO1_ENST00000370371.4_Missense_Mutation_p.S504L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	504					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)					GCTCGCCCACGACGGCGTGCT	0.532000													10	203					0	0	0.069234	0	0
GMPPA	29926	broad.mit.edu	37	2	220367145	220367145	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:220367145G>A	ENST00000358215.3	+	6	840	c.471G>A	c.(469-471)gaG>gaA	p.E157E	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Silent_p.E157E|GMPPA_ENST00000341142.3_Silent_p.E157E|GMPPA_ENST00000373908.1_Silent_p.E157E|GMPPA_ENST00000313597.5_Silent_p.E157E	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	157					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCATCGTTGAGAATCCACAGA	0.582000													10	24					0	0	0.069234	0	0
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:3441290C>T	ENST00000344733.5	+	18	5127	c.4223C>T	c.(4222-4224)gCt>gTt	p.A1408V	RGS12_ENST00000338806.4_Missense_Mutation_p.A760V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662000													6	24					0	0	0.021553	0	0
MAP7	9053	broad.mit.edu	37	6	136667001	136667001	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:136667001C>T	ENST00000354570.3	-	17	2642	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	MAP7_ENST00000544465.1_Silent_p.Q729Q|MAP7_ENST00000438100.2_Silent_p.Q729Q|MAP7_ENST00000454590.1_Silent_p.Q766Q|MAP7_ENST00000432797.2_Silent_p.Q598Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	744					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TACCTGCAGTCTGCTGTGTCT	0.488000													8	31					0	0	0.047766	0	0
BCAS1	8537	broad.mit.edu	37	20	52645063	52645063	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645063G>A	ENST00000395961.3	-	4	757	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BCAS1_ENST00000371440.3_Silent_p.F197F|BCAS1_ENST00000371435.2_Silent_p.F197F|BCAS1_ENST00000411563.1_Silent_p.F100F	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	197						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCTTGAAGAATTTGTCAA	0.557000													33	205					0	0	0.059317	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793638	100793638	+	Silent	SNP	C	C	T	rs147080547		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:100793638C>T	ENST00000361529.3	+	4	336	c.258C>T	c.(256-258)taC>taT	p.Y86Y	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	86					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTCCGGTACGGCAACCCTG	0.687000													7	122					0	0	0.047766	0	0
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982405G>C	ENST00000359651.3	+	6	3976	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q|ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632000													25	85					0	0	0.083992	0	0
ZNF112	7665	broad.mit.edu	37	19	44832455	44832455	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44832455G>C	ENST00000354340.4	-	4	1906	c.1855C>G	c.(1855-1857)Caa>Gaa	p.Q619E	ZNF112_ENST00000337401.4_Missense_Mutation_p.Q625E|ZNF112_ENST00000536500.1_Missense_Mutation_p.Q642E	NM_013380.3	NP_037512.3			zinc finger protein 112									p.Q625E(1)|p.Q619E(1)									TGATGGCCTTGAAGGTGTGAA	0.458000													25	171					0	0	0.091800	0	0
FABP9	646480	broad.mit.edu	37	8	82373707	82373707	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:82373707C>G	ENST00000379071.2	-	1	107	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	18							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			ATGTAATCCTCAAAGTTTTCA	0.393000													26	127					0	0	0.030593	0	0
ORM2	5005	broad.mit.edu	37	9	117093120	117093120	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:117093120G>A	ENST00000431067.2	+	3	342	c.306G>A	c.(304-306)gaG>gaA	p.E102E	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				TCCAGCGGGAGAATGGGACCG	0.542000													32	18					0	0	0.064281	0	0
ZNF229	7772	broad.mit.edu	37	19	44936420	44936420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44936420G>C	ENST00000291187.4	-	5	537	c.215C>G	c.(214-216)tCa>tGa	p.S72*	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.S72*	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCACCCACTGAGAGTAGGTT	0.468000													22	144					0	0	0.083992	0	0
AIM1	202	broad.mit.edu	37	6	106968294	106968294	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:106968294C>G	ENST00000369066.3	+	2	2474	c.1987C>G	c.(1987-1989)Caa>Gaa	p.Q663E		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	663							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCACTCCTCAAAGGCCAGA	0.493000													16	68					0	0	0.028581	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772943	140772943	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140772943G>C	ENST00000398604.2	+	1	563	c.563G>C	c.(562-564)gGa>gCa	p.G188A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGAGCCATAAAC	0.632000													12	32					0	0	0.080935	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208508	13208508	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:13208508G>A	ENST00000197268.8	+	2	181	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	21						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACCTAGGGGAGTATGATCC	0.473000													16	45					0	0	0.033300	0	0
OR6K6	128371	broad.mit.edu	37	1	158725151	158725151	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158725151C>T	ENST00000368144.2	+	1	642	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GTGGCTTCCTCCTTGTGCTTC	0.478000													26	144					0	0	0.091800	0	0
MAP3K4	4216	broad.mit.edu	37	6	161527688	161527688	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:161527688C>G	ENST00000392142.4	+	20	4147	c.3999C>G	c.(3997-3999)caC>caG	p.H1333Q	MAP3K4_ENST00000366919.2_Missense_Mutation_p.H1283Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H1329Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.H1279Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1333					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGTTATGCACGTTGGCTTGA	0.398000													4	47					0	0	0.014758	0	0
PYCR1	5831	broad.mit.edu	37	17	79891091	79891091	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:79891091C>G	ENST00000329875.8	-	7	1023	c.959G>C	c.(958-960)tGa>tCa	p.*320S	PYCR1_ENST00000402252.2_Nonstop_Mutation_p.*347S|PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000403172.4_Nonstop_Mutation_p.*289S|PYCR1_ENST00000577756.1_3'UTR	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	0					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CAGGACGTGTCAATCCTTGCC	0.622000													32	48					0	0	0.074837	0	0
ICA1L	130026	broad.mit.edu	37	2	203650663	203650663	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203650663C>G	ENST00000392237.2	-	13	1468	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	ICA1L_ENST00000358299.2_Missense_Mutation_p.Q437H	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	437										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTGGACTCTGTGAAGGCA	0.328000													38	79					0	0	0.104719	0	0
TTN	7273	broad.mit.edu	37	2	179451491	179451491	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179451491G>A	ENST00000589042.1	-	308	64361	c.64137C>T	c.(64135-64137)acC>acT	p.T21379T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T12314T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T12506T|TTN_ENST00000359218.5_Silent_p.T12439T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.T19738T|TTN_ENST00000342992.6_Silent_p.T18811T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19738	Ig-like 113.						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)			CACTGTTCTTGGTCATTTCAG	0.448000													57	82					0	0	0.048971	0	0
ASXL2	55252	broad.mit.edu	37	2	25982476	25982476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:25982476C>G	ENST00000435504.4	-	9	1107	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.E12Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E12Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E244Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGTGTCTCAACGTCAATG	0.423000													64	104					0	0	0.048971	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635586	109635586	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:109635586C>T	ENST00000338272.8	+	2	1155	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B							Golgi membrane|integral to membrane				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						GAAAGTACCTCGTCTCAAAAC	0.453000													90	297					0	0	0.048971	0	0
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:38643647G>A	ENST00000299084.4	+	7	1977	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	373	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423000									Legius syndrome				42	104					0	0	0.086207	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26031885C>G	ENST00000244661.2	-	1	403	c.404G>C	c.(403-405)aGa>aCa	p.R135T		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATTTACGCTCTTTCTCCGCG	0.453000													20	71					0	0	0.049695	0	0
INTS4	92105	broad.mit.edu	37	11	77629999	77629999	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:77629999G>C	ENST00000534064.1	-	15	1824	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	597					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAAACAGCTGATGACACCAG	0.458000													24	158					0	0	0.099896	0	0
SPSB3	90864	broad.mit.edu	37	16	1828497	1828497	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:1828497G>A	ENST00000566339.1	-	3	573	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SPSB3_ENST00000301717.4_Silent_p.F81F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	81					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCTACAGAAGGAGGCCT	0.697000													12	28					0	0	0.080935	0	0
ELF3	1999	broad.mit.edu	37	1	201982087	201982087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982087C>G	ENST00000359651.3	+	5	3803	c.611C>G	c.(610-612)tCt>tGt	p.S204C	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.S204C|ELF3_ENST00000367284.5_Missense_Mutation_p.S204C			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	204					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGGTGCTTCTCGGAGCTCC	0.647000													11	40					0	0	0.069234	0	0
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:117662862C>T	ENST00000317775.6	-	25	4470	c.3785G>A	c.(3784-3786)cGa>cAa	p.R1262Q	NOS1_ENST00000338101.4_Missense_Mutation_p.R1296Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1262					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1262Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGAAGCTTCGGAAAGGGGC	0.617000													42	160					0	0	0.111260	0	0
MTMR2	8898	broad.mit.edu	37	11	95591730	95591730	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:95591730G>C	ENST00000393223.3	-	8	981	c.319C>G	c.(319-321)Cta>Gta	p.L107V	MTMR2_ENST00000346299.5_Missense_Mutation_p.L179V|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.L107V|MTMR2_ENST00000409459.1_Missense_Mutation_p.L107V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	179	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCATTAGATTCTCAAAT	0.318000													40	160					0	0	0.048971	0	0
GPR61	83873	broad.mit.edu	37	1	110086287	110086287	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086287C>A	ENST00000527748.1	+	2	1326	c.643C>A	c.(643-645)Ctt>Att	p.L215I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	215						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTTGCTGTCCTTTACTTTCT	0.607000													31	992					2.4375e-19	2.97111e-19	0.034045	1	0
DNAH2	146754	broad.mit.edu	37	17	7680153	7680153	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7680153G>A	ENST00000572933.1	+	32	6464	c.5004G>A	c.(5002-5004)ctG>ctA	p.L1668L	DNAH2_ENST00000389173.2_Silent_p.L1668L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1668	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGCCTGCTGACAGCGAAGG	0.562000													14	6					0	0	0.038395	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861083	77861083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:77861083G>C	ENST00000380835.2	-	6	1137	c.971C>G	c.(970-972)tCa>tGa	p.S324*		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	324					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGGACTACTTGAGAGATGCTG	0.443000													14	60					0	0	0.024245	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277009	123277009	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:123277009G>C	ENST00000264501.4	+	83	14737	c.14364G>C	c.(14362-14364)aaG>aaC	p.K4788N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4788N			Q2LD37	K1109_HUMAN	KIAA1109	4788					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						CTACTGTGAAGAATTCTAGTT	0.363000													19	29					0	0	0.043863	0	0
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:35434793G>A	ENST00000439785.1	+	5	1370	c.926G>A	c.(925-927)aGa>aAa	p.R309K	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.R308K|ZNF30_ENST00000426813.2_Missense_Mutation_p.R227K|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309K	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448000													19	97					0	0	0.049695	0	0
AOC1	26	broad.mit.edu	37	7	150554983	150554983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:150554983G>A	ENST00000493429.1	+	4	2009	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	AOC1_ENST00000416793.2_Missense_Mutation_p.M475I|AOC1_ENST00000360937.4_Missense_Mutation_p.M475I|AOC1_ENST00000467291.1_Missense_Mutation_p.M475I					amine oxidase, copper containing 1																		ACGGGGTGATGGAGGCCAAGA	0.577000													38	71					0	0	0.086207	0	0
GSTM5	2949	broad.mit.edu	37	1	110255280	110255280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110255280C>G	ENST00000369812.5	+	2	148	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM5_ENST00000256593.3_Nonsense_Mutation_p.S26*|GSTM5_ENST00000369813.1_5'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	26	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACACAGACTCAAGCTATGTG	0.607000													20	690					0	0	0.049695	0	0
DHPS	1725	broad.mit.edu	37	19	12790678	12790678	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12790678G>A	ENST00000210060.7	-	3	566	c.431C>T	c.(430-432)gCg>gTg	p.A144V	DHPS_ENST00000351660.5_Missense_Mutation_p.A144V|DHPS_ENST00000594424.1_Missense_Mutation_p.A102V|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	144					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GTATGTGGGCGCCAGGCACTT	0.597000													32	62					0	0	0.041601	0	0
USP54	159195	broad.mit.edu	37	10	75301468	75301468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:75301468G>A	ENST00000339859.4	-	7	701	c.601C>T	c.(601-603)Cga>Tga	p.R201*	USP54_ENST00000319786.7_Nonsense_Mutation_p.R201*|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Nonsense_Mutation_p.R201*|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	201					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTTTCTCTCGTCTTTCCAGC	0.453000													16	53					0	0	0.033300	0	0
C4orf19	55286	broad.mit.edu	37	4	37592524	37592524	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:37592524G>A	ENST00000284437.6	+	3	1025	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G283R|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	283										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CGATGGAGATGGGGATGGGGA	0.532000													68	92					0	0	0.048971	0	0
PRKD3	23683	broad.mit.edu	37	2	37487476	37487476	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487476C>T	ENST00000379066.1	-	15	2698	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E646K			O94806	KPCD3_HUMAN	protein kinase D3	646	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAGACTCGTTCTGGGGTTTCA	0.393000													12	46					0	0	0.093190	0	0
DSP	1832	broad.mit.edu	37	6	7583321	7583321	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:7583321C>A	ENST00000379802.3	+	24	6167	c.5826C>A	c.(5824-5826)ctC>ctA	p.L1942L	DSP_ENST00000418664.2_Silent_p.L1343L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1942	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGATAAACTCAGACAGCGCC	0.522000													26	52					8.24728e-16	9.99872e-16	0.099896	1	0
EPS15L1	58513	broad.mit.edu	37	19	16552747	16552747	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:16552747G>A	ENST00000597937.1	-	3	125	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L41F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.L41F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L41F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L41F	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	41	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTAGAAAAAGCGCAGCTTCA	0.517000											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	160					0	0	0.054565	0	0
OR4X2	119764	broad.mit.edu	37	11	48267481	48267481	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48267481C>T	ENST00000302329.3	+	1	874	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GATCCTGAACCCTGTCATCTA	0.483000													16	28					0	0	0.033300	0	0
C6orf10	10665	broad.mit.edu	37	6	32261600	32261600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261600C>G	ENST00000375015.4	-	26	1047	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	C6orf10_ENST00000442822.2_Missense_Mutation_p.E275Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.E268Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E282Q|C6orf10_ENST00000447241.2_Missense_Mutation_p.E284Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E282Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	284						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGTCTTTCTCTAAATCAGTG	0.388000													8	280					0	0	0.038147	0	0
DNAH9	1770	broad.mit.edu	37	17	11700983	11700983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:11700983G>A	ENST00000262442.4	+	43	8361	c.8293G>A	c.(8293-8295)Gag>Aag	p.E2765K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2765K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						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)		TGGTATTGGGGAGCCCAAATA	0.498000													10	33					0	0	0.058154	0	0
ECI2	10455	broad.mit.edu	37	6	4131046	4131046	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:4131046G>A	ENST00000465828.1	-	3	462	c.177C>T	c.(175-177)aaC>aaT	p.N59N	ECI2_ENST00000380118.3_Silent_p.N89N|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Silent_p.N59N|ECI2_ENST00000380125.2_Silent_p.N59N|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	89	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATTTGGCCTTGTTGATCAAGT	0.448000													39	139					0	0	0.039052	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983483	17983483	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983483G>A	ENST00000222248.3	+	1	702	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	119					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGCACCTACGAGGTACCGGA	0.667000													6	52					0	0	0.029380	0	0
TCTE1	202500	broad.mit.edu	37	6	44254253	44254253	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:44254253C>T	ENST00000371505.4	-	3	416	c.294G>A	c.(292-294)aaG>aaA	p.K98K	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	98										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGCATCTGCTTCAGGATAG	0.582000													20	112					0	0	0.049695	0	0
TTN	7273	broad.mit.edu	37	2	179473525	179473525	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179473525T>C	ENST00000589042.1	-	274	52437	c.52213A>G	c.(52213-52215)Act>Gct	p.T17405A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8340A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8532A|TTN_ENST00000359218.5_Missense_Mutation_p.T8465A|TTN_ENST00000591111.1_Missense_Mutation_p.T15764A|TTN_ENST00000342992.6_Missense_Mutation_p.T14837A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15764	Fibronectin type-III 26.						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)			TTTTCCAAAGTGTAGTTTATG	0.378000													20	83					0	0	0.055883	0	0
OGDHL	55753	broad.mit.edu	37	10	50947854	50947854	+	Silent	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:50947854G>T	ENST00000374103.4	-	17	2257	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	OGDHL_ENST00000419399.1_Silent_p.P667P|OGDHL_ENST00000432695.1_Silent_p.P515P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	724					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGGGCATTGGGGCTGGCCA	0.572000													14	27					4.3838e-07	5.17564e-07	0.105934	1	0
BEST3	144453	broad.mit.edu	37	12	70066697	70066697	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70066697C>G	ENST00000330891.5	-	8	1142	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	BEST3_ENST00000476098.1_Missense_Mutation_p.E93Q|BEST3_ENST00000488961.1_Missense_Mutation_p.E93Q|BEST3_ENST00000331471.4_Missense_Mutation_p.E306Q|BEST3_ENST00000553096.1_Missense_Mutation_p.E200Q	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	306						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTTAGTTTCAAAATCATCA	0.328000													10	39					0	0	0.080935	0	0
GSTM5	2949	broad.mit.edu	37	1	110257886	110257886	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110257886C>A	ENST00000369813.1	+	5	1373	c.468C>A	c.(466-468)ctC>ctA	p.L156L	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTCCTTTCTCTTTGATGCCC	0.478000													23	409					3.62473e-10	4.33622e-10	0.062417	1	0
MAD2L2	10459	broad.mit.edu	37	1	11740482	11740482	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:11740482G>A	ENST00000235310.3	-	5	1015	c.87C>T	c.(85-87)ctC>ctT	p.L29L	MAD2L2_ENST00000376669.5_Silent_p.L29L|MAD2L2_ENST00000376672.1_Silent_p.L29L|MAD2L2_ENST00000376667.3_Silent_p.L29L|MAD2L2_ENST00000376692.4_Silent_p.L29L			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	29	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAGAGGATGAGATGCACAG	0.647000								DNA polymerases (catalytic subunits)					50	144					0	0	0.048971	0	0
MCCC1	56922	broad.mit.edu	37	3	182790262	182790262	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182790262C>G	ENST00000492597.1	-	4	758	c.56G>C	c.(55-57)gGa>gCa	p.G19A	MCCC1_ENST00000539926.1_5'UTR|MCCC1_ENST00000265594.4_Missense_Mutation_p.G128A			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	128					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AAAACCGCATCCTGGATGGAT	0.398000													7	39					0	0	0.029380	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:33283569G>A	ENST00000431845.2	-	2	1276	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	ZBTB22_ENST00000418724.1_Silent_p.V375V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					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						CACAGAAGTTGACCTGCTCCT	0.602000													28	131					0	0	0.034045	0	0
GSTM5	2949	broad.mit.edu	37	1	110257880	110257880	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110257880C>A	ENST00000369813.1	+	5	1367	c.462C>A	c.(460-462)tcC>tcA	p.S154S	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCCCATCCTCCTTTCTCTTTG	0.473000													24	439					7.87624e-14	9.52329e-14	0.076483	1	0
KAT5	10524	broad.mit.edu	37	11	65481068	65481068	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:65481068G>A	ENST00000341318.4	+	5	779	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	KAT5_ENST00000530446.1_Missense_Mutation_p.R130Q|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000377046.3_Missense_Mutation_p.R149Q|KAT5_ENST00000352980.4_Missense_Mutation_p.R97Q	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	149					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R182L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGCAGAAACGGAAGGTGGAG	0.547000													24	81					0	0	0.076483	0	0
ERCC3	2071	broad.mit.edu	37	2	128015226	128015226	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128015226C>T	ENST00000493187.2	-	15	2566	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	ERCC3_ENST00000285398.2_Silent_p.R765R			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	765	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCGCCTTGCTCCGCGATGAGT	0.582000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	90					0	0	0.055883	0	0
BRD7	29117	broad.mit.edu	37	16	50354583	50354583	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50354583C>G	ENST00000394688.3	-	14	1762	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	BRD7_ENST00000394689.2_Missense_Mutation_p.D536H			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	535					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCTTCAGAGTCAAAAACTTCA	0.433000													26	410					0	0	0.091800	0	0
KCNB2	9312	broad.mit.edu	37	8	73848919	73848919	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:73848919C>T	ENST00000523207.1	+	3	1917	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	443					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)			TTGAGCGGGCCAAAAGGAACG	0.458000													21	95					0	0	0.069288	0	0
MCCC1	56922	broad.mit.edu	37	3	182789047	182789047	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182789047C>G	ENST00000492597.1	-	5	965	c.263G>C	c.(262-264)aGa>aCa	p.R88T	MCCC1_ENST00000539926.1_Missense_Mutation_p.R62T|MCCC1_ENST00000265594.4_Missense_Mutation_p.R197T			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	197	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATAGCCAATTCTCCTGGCGTG	0.483000													30	75					0	0	0.034045	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081070	53081070	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:53081070T>C	ENST00000305901.5	-	1	1139	c.1012A>G	c.(1012-1014)Agc>Ggc	p.S338G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	338					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGAGTTTGCTCCAGGGTTTG	0.652000													19	44					0	0	0.062417	0	0
PDSS1	23590	broad.mit.edu	37	10	26998684	26998684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:26998684C>T	ENST00000376215.5	+	5	507	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	PDSS1_ENST00000376203.5_Missense_Mutation_p.H152Y	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	152					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAATATTCATCATAACAACTC	0.393000													27	112					0	0	0.037714	0	0
CNTN1	1272	broad.mit.edu	37	12	41337481	41337481	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:41337481A>T	ENST00000551295.2	+	13	1579	c.1462A>T	c.(1462-1464)Aat>Tat	p.N488Y	CNTN1_ENST00000360099.3_Missense_Mutation_p.N488Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.N477Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.N488Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	488	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTGCAGAAAATAACAGAGG	0.333000													6	30					0	0	0.029380	0	0
SCN3A	6328	broad.mit.edu	37	2	166019259	166019259	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166019259C>G	ENST00000360093.3	-	8	1265	c.774G>C	c.(772-774)ctG>ctC	p.L258L	SCN3A_ENST00000283254.7_Silent_p.L258L|SCN3A_ENST00000409101.3_Silent_p.L258L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	258						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAACACGCTCAGACAGAACA	0.483000													23	82					0	0	0.083992	0	0
SRCAP	10847	broad.mit.edu	37	16	30749639	30749639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:30749639G>A	ENST00000262518.4	+	34	8663	c.8278G>A	c.(8278-8280)Gaa>Aaa	p.E2760K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2698K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2602K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2760	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTGGTAGAGGAAAAGGAACT	0.627000													7	71					0	0	0.038147	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:154544295G>A	ENST00000368476.3	+	5	1260	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	332					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642000													5	34					0	0	0.014758	0	0
PLCE1	51196	broad.mit.edu	37	10	96018855	96018855	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:96018855C>G	ENST00000371380.3	+	12	3997	c.3762C>G	c.(3760-3762)ctC>ctG	p.L1254L	PLCE1_ENST00000371385.3_Silent_p.L946L|PLCE1_ENST00000260766.3_Silent_p.L1254L|PLCE1_ENST00000371375.1_Silent_p.L946L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGCCCCACTCTACACCAACC	0.478000													36	132					0	0	0.098360	0	0
TTC40	54777	broad.mit.edu	37	10	134752189	134752189	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:134752189C>G	ENST00000368586.5	-	5	540	c.440G>C	c.(439-441)gGa>gCa	p.G147A	TTC40_ENST00000368585.3_Missense_Mutation_p.G147A|TTC40_ENST00000368582.2_Missense_Mutation_p.G147A	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGACGATATCCAGGCTTGAG	0.537000													18	100					0	0	0.043863	0	0
TIMM44	10469	broad.mit.edu	37	19	7992973	7992973	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:7992973C>T	ENST00000270538.3	-	11	1385	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	373					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGACGTTGTCAATGTCTAGG	0.637000													6	26					0	0	0.029380	0	0
CLK1	1195	broad.mit.edu	37	2	201726128	201726128	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:201726128C>T	ENST00000434813.2	-	3	683	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Missense_Mutation_p.E75K	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	75					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTCTGTACTCATCAATGTAG	0.373000													26	88					0	0	0.083992	0	0
HEATR3	55027	broad.mit.edu	37	16	50118104	50118104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50118104G>T	ENST00000299192.7	+	9	1383	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E312*|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	398							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGCATTTATGGAGAATTCCTT	0.502000													12	155					5.50884e-06	6.45321e-06	0.093190	1	0
LAMB4	22798	broad.mit.edu	37	7	107674733	107674733	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:107674733G>C	ENST00000388781.3	-	31	4821	c.4738C>G	c.(4738-4740)Caa>Gaa	p.Q1580E	LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1580E|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1580E|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1580	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAGTGATTTGAGCTTGTTGT	0.328000													42	81					0	0	0.111260	0	0
STX4	6810	broad.mit.edu	37	16	31051064	31051064	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31051064C>G	ENST00000394998.1	+	11	1171	c.828C>G	c.(826-828)atC>atG	p.I276M	STX4_ENST00000313843.3_Missense_Mutation_p.I278M|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	278	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGATTGCCATCTGTGTGTCCA	0.587000													49	185					0	0	0.048971	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978449	1978449	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:1978449C>T	ENST00000255641.8	+	4	732	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	79	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCCGATCAAGTCCCGGG	0.731000													4	13					0	0	0.009096	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204401357	204401357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204401357C>A	ENST00000367187.3	-	28	4682	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.E1348*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1376	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAGATCTTCTCATGGCGGCAG	0.537000											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	124					3.46703e-50	4.27221e-50	0.048971	1	0
CELSR3	1951	broad.mit.edu	37	3	48697790	48697790	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:48697790C>T	ENST00000544264.1	-	1	2558	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E760K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	760	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGTACTCCTTCATTGTG	0.567000													17	53					0	0	0.033300	0	0
ZNF280D	54816	broad.mit.edu	37	15	56950642	56950642	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:56950642C>T	ENST00000559237.1	-	16	2681	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K	ZNF280D_ENST00000559000.1_Silent_p.K666K|ZNF280D_ENST00000396245.1_Silent_p.K383K|ZNF280D_ENST00000267807.7_Silent_p.K679K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAATGCTTCTTAAAAATAC	0.259000													5	38					0	0	0.029380	0	0
ANO7	50636	broad.mit.edu	37	2	242128095	242128095	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:242128095G>A	ENST00000274979.8	+	1	172	c.69G>A	c.(67-69)gtG>gtA	p.V23V	ANO7_ENST00000402530.3_Silent_p.V23V|ANO7_ENST00000402430.3_Silent_p.V23V	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	23						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GTCCCGCAGTGAGGACGGGAC	0.677000													26	34					0	0	0.108266	0	0
MOAP1	64112	broad.mit.edu	37	14	93649993	93649993	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:93649993C>A	ENST00000556883.1	-	2	1079	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	MOAP1_ENST00000298894.4_Missense_Mutation_p.D199Y			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	199					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttctctacatctggcacctgc	0.473000													28	103					1.5548e-18	1.89007e-18	0.108266	1	0
MCCC1	56922	broad.mit.edu	37	3	182788887	182788887	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182788887C>G	ENST00000492597.1	-	6	1036	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	MCCC1_ENST00000539926.1_Missense_Mutation_p.E86Q|MCCC1_ENST00000265594.4_Missense_Mutation_p.E221Q			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	221	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AATTCTTGTTCTGATCTAACA	0.383000													12	58					0	0	0.105934	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	51					0	0	0.009096	0	0
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:143701978G>T	ENST00000408922.2	+	1	957	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K296fs*1(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433000													16	64					1.02788e-11	1.23951e-11	0.033300	1	0
ASB18	401036	broad.mit.edu	37	2	237150037	237150037	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:237150037C>T	ENST00000330842.6	-	1	221	c.127G>A	c.(127-129)Gac>Aac	p.D43N	ASB18_ENST00000409749.3_Missense_Mutation_p.D72N|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	72					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCAGATGGTCGAGGTCCCCT	0.517000													26	28					0	0	0.099896	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33631370	33631370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:33631370G>T	ENST00000321505.4	+	14	4426	c.4246G>T	c.(4246-4248)Gga>Tga	p.G1416*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.G1422*					KIAA1549-like																		CAAGAGGAAGGGATATTACGA	0.517000													9	18					2.17888e-05	2.54579e-05	0.058154	1	0
KIAA0754	643314	broad.mit.edu	37	1	39879235	39879235	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:39879235A>C	ENST00000530275.1	+	1	3085	c.2890A>C	c.(2890-2892)Acc>Ccc	p.T964P	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	964	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			TGCAGTGCCCACCCCAGAGGA	0.731000													4	80					0	0	0.029380	0	0
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086556C>G	ENST00000527748.1	+	2	1595	c.912C>G	c.(910-912)ttC>ttG	p.F304L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577000													22	705					0	0	0.069288	0	0
C6orf222	389384	broad.mit.edu	37	6	36298448	36298448	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:36298448G>C	ENST00000437635.2	-	2	197	c.20C>G	c.(19-21)cCa>cGa	p.P7R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	7										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGCCTCCTTGGGCACCTTGG	0.532000													12	80					0	0	0.020292	0	0
MCM8	84515	broad.mit.edu	37	20	5937805	5937805	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937805G>C	ENST00000378896.3	+	6	897	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MCM8_ENST00000378886.2_Missense_Mutation_p.E174Q|MCM8_ENST00000378883.1_Missense_Mutation_p.E174Q|MCM8_ENST00000265187.4_Missense_Mutation_p.E174Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	174					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GCATGCAGCTGAGTTACAAGC	0.368000													6	42					0	0	0.038147	0	0
SERPING1	710	broad.mit.edu	37	11	57379282	57379282	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:57379282C>T	ENST00000403558.1	+	6	1617	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	SERPING1_ENST00000278407.4_Silent_p.L374L|SERPING1_ENST00000378323.4_Silent_p.L379L|SERPING1_ENST00000378324.2_Silent_p.L322L|SERPING1_ENST00000340687.6_Intron	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	374				E -> V (in Ref. 19; AA sequence).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AACAGGCTCTCAGCCCTTCTG	0.522000													78	121					0	0	0.048971	0	0
LSM2	57819	broad.mit.edu	37	6	31766264	31766264	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31766264G>A	ENST00000375661.5	-	3	318	c.92C>T	c.(91-93)tCt>tTt	p.S31F	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	31					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CTGATCCACAGAATGGAGGGT	0.473000													28	55					0	0	0.034045	0	0
TET2	54790	broad.mit.edu	37	4	106156981	106156981	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:106156981G>A	ENST00000540549.1	+	3	2742	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	TET2_ENST00000394764.1_Missense_Mutation_p.E628K|TET2_ENST00000545826.1_Missense_Mutation_p.E628K|TET2_ENST00000305737.2_Missense_Mutation_p.E628K|TET2_ENST00000413648.2_Missense_Mutation_p.E628K|TET2_ENST00000380013.4_Missense_Mutation_p.E628K|TET2_ENST00000513237.1_Missense_Mutation_p.E649K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	628	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACACAGCTGGAGCACAAGTC	0.478000			"""Mis N, F"""		MDS								5	29					0	0	0.014758	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123020	12123020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:12123020G>A	ENST00000379388.2	+	4	3324	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	998					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAGAACCTGAGCACAGCCC	0.463000													7	209					0	0	0.038147	0	0
MALSU1	115416	broad.mit.edu	37	7	23349004	23349004	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:23349004G>C	ENST00000466681.1	+	4	700	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	183						mitochondrion											GATGCTTCCAGAAACCAGAGA	0.388000													18	93					0	0	0.043863	0	0
GALC	2581	broad.mit.edu	37	14	88411957	88411957	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:88411957C>T	ENST00000261304.2	-	14	1716	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K	GALC_ENST00000544807.2_Missense_Mutation_p.R481K|GALC_ENST00000393568.4_Missense_Mutation_p.R514K|GALC_ENST00000393569.2_Missense_Mutation_p.R511K	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	537					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTAATGGGTCTCTGGTTGAG	0.428000													45	93					0	0	0.048971	0	0
MYCBP2	23077	broad.mit.edu	37	13	77825302	77825302	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:77825302C>T	ENST00000407578.2	-	15	2631	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	MYCBP2_ENST00000544440.2_Missense_Mutation_p.D751N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D751N|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGACTCTGTCTGGCCGTCCA	0.468000													15	42					0	0	0.033300	0	0
NOL7	51406	broad.mit.edu	37	6	13620657	13620657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:13620657C>T	ENST00000451315.2	+	7	672	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	AL441883.1_ENST00000600057.1_Missense_Mutation_p.R66K|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	214						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GTTCCTGTCTCTTGCCAACAA	0.333000													15	53					0	0	0.038395	0	0
ARID1A	8289	broad.mit.edu	37	1	27097694	27097694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:27097694C>T	ENST00000324856.7	+	12	3654	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q712*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1095*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1095	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTGAAAAAGCAGTATATCCA	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	74					0	0	0.105934	0	0
GPR61	83873	broad.mit.edu	37	1	110086286	110086286	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086286C>T	ENST00000527748.1	+	2	1325	c.642C>T	c.(640-642)gtC>gtT	p.V214V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	214						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTTGCTGTCCTTTACTTTC	0.607000													28	989					0	0	0.091800	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874326	31874326	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:31874326C>T	ENST00000334151.2	-	1	109	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCTGCCACATCCACAGCCATA	0.597000													92	147					0	0	0.048971	0	0
POLR2B	5431	broad.mit.edu	37	4	57860643	57860643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:57860643C>T	ENST00000381227.1	+	5	730	c.317C>T	c.(316-318)tCa>tTa	p.S106L	POLR2B_ENST00000431623.2_Missense_Mutation_p.S31L|POLR2B_ENST00000314595.5_Missense_Mutation_p.S106L|POLR2B_ENST00000441246.2_Missense_Mutation_p.S99L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGTGCTCCTTCACCAATGATG	0.338000													8	24					0	0	0.038147	0	0
USHBP1	83878	broad.mit.edu	37	19	17373412	17373412	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17373412C>T	ENST00000252597.3	-	4	764	c.591G>A	c.(589-591)acG>acA	p.T197T	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.T133T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	197							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGAGGCCTGCGTGCGGACCA	0.657000													42	58					0	0	0.111260	0	0
ZNF671	79891	broad.mit.edu	37	19	58238866	58238866	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:58238866C>G	ENST00000317398.6	-	1	126	c.31G>C	c.(31-33)Gat>Cat	p.D11H	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.D11H	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		TGCAGAGCATCAGACGCGTCT	0.667000													8	41					0	0	0.038147	0	0
MUC16	94025	broad.mit.edu	37	19	9083641	9083641	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9083641G>C	ENST00000397910.4	-	1	8377	c.8174C>G	c.(8173-8175)tCt>tGt	p.S2725C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2725	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGTGGAAGAAGGATGGAG	0.468000													29	119					0	0	0.037714	0	0
LMO7	4008	broad.mit.edu	37	13	76427499	76427499	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:76427499C>A	ENST00000357063.3	+	29	6052	c.4792C>A	c.(4792-4794)Cag>Aag	p.Q1598K	LMO7_ENST00000341547.4_Missense_Mutation_p.Q1264K|LMO7_ENST00000526202.1_Missense_Mutation_p.Q1190K|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1598K|LMO7_ENST00000321797.8_Missense_Mutation_p.Q1313K|LMO7_ENST00000465261.2_Missense_Mutation_p.Q1313K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1598						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGCTTCACAGTCAGGCTC	0.542000													11	37					7.03913e-09	8.35433e-09	0.093190	1	0
NUCB1	4924	broad.mit.edu	37	19	49425626	49425626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:49425626C>G	ENST00000405315.4	+	13	1665	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	NUCB1_ENST00000263273.5_Nonsense_Mutation_p.S444*|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Nonsense_Mutation_p.S444*	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	444						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTGGACACTTCAGAAAAGAAA	0.592000													42	92					0	0	0.048971	0	0
GTPBP8	29083	broad.mit.edu	37	3	112709949	112709949	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:112709949G>A	ENST00000383677.3	+	1	118	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GTPBP8_ENST00000383678.2_Missense_Mutation_p.E35K|RP11-484K9.4_ENST00000609673.1_RNA	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	35					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGCTTTTGCTGAGGTGCTGCG	0.632000													24	59					0	0	0.091800	0	0
FAM96A	84191	broad.mit.edu	37	15	64381003	64381003	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64381003C>T	ENST00000557835.1	-	2	198	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	FAM96A_ENST00000300030.3_Missense_Mutation_p.E58K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E58K|FAM96A_ENST00000559950.1_Missense_Mutation_p.E58K			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	58					chromosome segregation			p.E58K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTTCCAGTTCTTCTAAAGTA	0.363000													11	59					0	0	0.105934	0	0
OR11H12	440153	broad.mit.edu	37	14	19377844	19377844	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:19377844T>C	ENST00000550708.1	+	1	323	c.251T>C	c.(250-252)tTa>tCa	p.L84S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCCTTTTTAGAGATATGG	0.418000													67	120					0	0	0.048971	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771388	90771388	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:90771388A>T	ENST00000411539.2	+	14	2287	c.2027A>T	c.(2026-2028)gAg>gTg	p.E676V	SEMA4B_ENST00000379122.3_Missense_Mutation_p.E671V|SEMA4B_ENST00000332496.6_Missense_Mutation_p.E676V	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTGGTGGAGGACGGGGTG	0.622000													11	14					0	0	0.069234	0	0
SEC16A	9919	broad.mit.edu	37	9	139358996	139358996	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139358996G>A	ENST00000313050.7	-	7	4395	c.4322C>T	c.(4321-4323)tCt>tTt	p.S1441F	SEC16A_ENST00000431893.2_Missense_Mutation_p.S1263F|SEC16A_ENST00000290037.6_Missense_Mutation_p.S1263F|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1263F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1263					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTTCAGGAGAAGTTGGTCT	0.438000													16	44					0	0	0.024245	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26123851C>T	ENST00000314332.5	-	1	287	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2BC_ENST00000396984.1_Silent_p.E94E			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E94D(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCGTCTGGATCTCCCTGGAGG	0.597000													24	153					0	0	0.083992	0	0
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:6592946C>G	ENST00000321612.6	-	10	1456	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507000													18	90					0	0	0.038395	0	0
NOX5	79400	broad.mit.edu	37	15	69320560	69320560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:69320560C>G	ENST00000260364.5	+	4	427	c.126C>G	c.(124-126)ttC>ttG	p.F42L	NOX5_ENST00000388866.3_Missense_Mutation_p.F60L|NOX5_ENST00000530406.2_Missense_Mutation_p.F60L|NOX5_ENST00000448182.3_Missense_Mutation_p.F42L|NOX5_ENST00000455873.3_Missense_Mutation_p.F53L|RP11-809H16.2_ENST00000557966.1_RNA			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	60	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CACAGTCCTTCTTTGCAGAGC	0.577000													29	159					0	0	0.050027	0	0
GPR61	83873	broad.mit.edu	37	1	110086724	110086724	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086724C>T	ENST00000527748.1	+	2	1763	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	360						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGCTTCTTCAAGCCAGCTC	0.557000													14	466					0	0	0.028581	0	0
MTRF1L	54516	broad.mit.edu	37	6	153316427	153316427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:153316427C>A	ENST00000367233.5	-	3	366	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MTRF1L_ENST00000367230.1_Nonsense_Mutation_p.E123*|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Nonsense_Mutation_p.E123*	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	123						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCATCTGTTTCTTCTGAGGGA	0.303000													5	18					0.00198382	0.00229411	0.029380	1	0
DNTT	1791	broad.mit.edu	37	10	98064410	98064410	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:98064410C>T	ENST00000419175.1	+	1	326	c.156C>T	c.(154-156)ctC>ctT	p.L52L	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Silent_p.L52L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	52	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGCGTTCCTCATGGAGCTGG	0.493000													8	35					0	0	0.047766	0	0
FKRP	79147	broad.mit.edu	37	19	47259808	47259808	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:47259808C>G	ENST00000318584.5	+	4	1398	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	FKRP_ENST00000391909.3_Missense_Mutation_p.I367M|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	367						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTGGGCATCTACTTGGAGG	0.701000													7	25					0	0	0.029380	0	0
ACTL9	284382	broad.mit.edu	37	19	8808334	8808334	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:8808334C>T	ENST00000324436.3	-	1	838	c.718G>A	c.(718-720)Ggc>Agc	p.G240S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGGCAGGCCGGCCTGGAGC	0.657000													14	45					0	0	0.020292	0	0
NFASC	23114	broad.mit.edu	37	1	204956661	204956661	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204956661T>C	ENST00000367172.4	+	24	3235	c.2907T>C	c.(2905-2907)taT>taC	p.Y969Y	NFASC_ENST00000404076.1_Silent_p.Y948Y|NFASC_ENST00000539706.1_Silent_p.Y965Y|NFASC_ENST00000404907.1_Silent_p.Y965Y|NFASC_ENST00000367171.4_Silent_p.Y954Y|NFASC_ENST00000513543.1_Silent_p.Y965Y|NFASC_ENST00000360049.4_Silent_p.Y965Y|NFASC_ENST00000339876.6_Silent_p.Y862Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Silent_p.Y969Y|NFASC_ENST00000367169.4_Silent_p.Y862Y|NFASC_ENST00000338515.6_Silent_p.Y969Y|NFASC_ENST00000367170.4_Silent_p.Y969Y|NFASC_ENST00000401399.1_Silent_p.Y862Y			O94856	NFASC_HUMAN	neurofascin	969	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCTCAAATATGTGGCCTGTA	0.488000													19	138					0	0	0.069288	0	0
ZNF28	7576	broad.mit.edu	37	19	53303586	53303586	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:53303586G>A	ENST00000438150.2	-	2	2246	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ZNF28_ENST00000360272.4_Silent_p.F451F|ZNF28_ENST00000457749.2_Silent_p.F504F|ZNF28_ENST00000414252.2_Silent_p.F451F			P17035	ZNF28_HUMAN	zinc finger protein 28	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATCACTCCGGAAAGCCTTGT	0.393000													30	161					0	0	0.054565	0	0
LIMS2	55679	broad.mit.edu	37	2	128399744	128399744	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128399744C>A	ENST00000409455.1	-	6	1160	c.525G>T	c.(523-525)ctG>ctT	p.L175L	LIMS2_ENST00000409254.1_Silent_p.L28L|LIMS2_ENST00000410038.1_Silent_p.L28L|LIMS2_ENST00000409808.2_Silent_p.L175L|LIMS2_ENST00000409286.1_Silent_p.L28L|LIMS2_ENST00000410011.1_Silent_p.L175L|LIMS2_ENST00000409754.1_Silent_p.L28L|LIMS2_ENST00000355119.4_Silent_p.L180L|LIMS2_ENST00000324938.5_Silent_p.L204L|LIMS2_ENST00000545738.2_Silent_p.L202L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	180	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCACCCTTCAGCTCGCGGG	0.692000													8	11					0.00307968	0.00355226	0.038147	1	0
PRKD3	23683	broad.mit.edu	37	2	37487528	37487528	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487528C>G	ENST00000379066.1	-	15	2647		c.e15-1		PRKD3_ENST00000234179.2_Splice_Site			O94806	KPCD3_HUMAN	protein kinase D3						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GGTGCAAATTCTGAAGAGAGG	0.388000													7	37					0	0	0.038147	0	0
HOXB8	3218	broad.mit.edu	37	17	46691841	46691841	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46691841C>T	ENST00000239144.4	-	1	460	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	HOXB8_ENST00000576562.1_Missense_Mutation_p.V76M|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TGGCACGCCACGGCGCACGGG	0.662000													13	46					0	0	0.020292	0	0
RERG	85004	broad.mit.edu	37	12	15262116	15262116	+	Silent	SNP	C	C	T	rs147938337	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15262116C>T	ENST00000256953.2	-	5	864	c.528G>A	c.(526-528)aaG>aaA	p.K176K	RERG_ENST00000536465.1_Silent_p.K176K|RERG_ENST00000546331.1_Silent_p.K157K|RERG_ENST00000538313.1_Silent_p.K176K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	176					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCGCCTCGTCTTGCCCTGCA	0.522000													37	86					0	0	0.069456	0	0
KIAA0753	9851	broad.mit.edu	37	17	6526348	6526348	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:6526348G>C	ENST00000361413.3	-	6	1316	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q21E|KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q21E	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	320						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCAGTAAACTGAGTGACAAAC	0.498000													13	35					0	0	0.105934	0	0
DISP1	84976	broad.mit.edu	37	1	223175804	223175804	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:223175804A>G	ENST00000284476.6	+	8	1229	c.1065A>G	c.(1063-1065)ggA>ggG	p.G355G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGACACTGGGAAACTACATCG	0.502000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	174					0	0	0.038147	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533267	22533267	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:22533267C>T	ENST00000404369.4	-	3	688	c.273G>A	c.(271-273)ctG>ctA	p.L91L	STEAP1B_ENST00000406890.2_Silent_p.L72L	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	72						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TTACTTCCCTCAGAAGAGTGT	0.403000													12	86					0	0	0.024245	0	0
IQCH	64799	broad.mit.edu	37	15	67649729	67649729	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:67649729G>C	ENST00000335894.4	+	7	750	c.684G>C	c.(682-684)gtG>gtC	p.V228V	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Silent_p.V55V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	228										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGCAGAAGTGAAGTTCTTTC	0.383000													10	44					0	0	0.080935	0	0
CEP85L	387119	broad.mit.edu	37	6	118845073	118845073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:118845073C>G	ENST00000368491.3	-	4	1652	c.1031G>C	c.(1030-1032)gGa>gCa	p.G344A	CEP85L_ENST00000360290.3_Missense_Mutation_p.G242A|CEP85L_ENST00000392500.3_Missense_Mutation_p.G347A|CEP85L_ENST00000419517.2_Missense_Mutation_p.G344A|CEP85L_ENST00000368488.5_Missense_Mutation_p.G347A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	344						centrosome											ACGAGATGATCCAGTCAAAAC	0.279000													18	77					0	0	0.062417	0	0
CHD2	1106	broad.mit.edu	37	15	93467687	93467687	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467687G>A	ENST00000394196.4	+	3	1267	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CHD2_ENST00000557381.1_Missense_Mutation_p.E67K|CHD2_ENST00000536619.1_Missense_Mutation_p.E80K|CHD2_ENST00000420239.2_Missense_Mutation_p.E67K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	67	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTCGGAATCTGAGAGCGAATC	0.522000													63	106					0	0	0.048971	0	0
EIF2B2	8892	broad.mit.edu	37	14	75469786	75469786	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:75469786C>T	ENST00000266126.5	+	1	173	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	31					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CGCGCAGCTCCGAGGAAATGG	0.667000													19	39					0	0	0.043863	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867740	31867740	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31867740T>A	ENST00000375527.2	-	2	1518	c.1343A>T	c.(1342-1344)gAg>gTg	p.E448V	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACACTGGCCTCCAGCACGTT	0.652000													30	42					0	0	0.045705	0	0
FASLG	356	broad.mit.edu	37	1	172628518	172628518	+	Silent	SNP	G	G	A	rs143516344	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:172628518G>A	ENST00000367721.2	+	1	361	c.177G>A	c.(175-177)ccG>ccA	p.P59P	FASLG_ENST00000340030.3_Silent_p.P59P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	59	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ctccgccgccgccgccaccac	0.617000													25	13					0	0	0.099896	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287107	29287107	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:29287107C>T	ENST00000266943.6	-	3	1139	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R257Q	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	257					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAGCAAAAATCGTCTCTTACC	0.338000													9	27					0	0	0.047766	0	0
CHD2	1106	broad.mit.edu	37	15	93467681	93467681	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467681G>A	ENST00000394196.4	+	3	1261	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CHD2_ENST00000557381.1_Missense_Mutation_p.E65K|CHD2_ENST00000536619.1_Missense_Mutation_p.E78K|CHD2_ENST00000420239.2_Missense_Mutation_p.E65K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	65	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGTCAGTCGGAATCTGAGAG	0.522000													55	111					0	0	0.048971	0	0
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:38840895C>G	ENST00000359357.3	+	49	7054	c.6800C>G	c.(6799-6801)tCt>tGt	p.S2267C	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2484C|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2231C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAGCAGCTCTGCTCTCAGC	0.502000													22	94					0	0	0.083992	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47507475	47507475	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:47507475A>C	ENST00000337137.4	+	12	1567	c.1401A>C	c.(1399-1401)gaA>gaC	p.E467D	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.E420D|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.E408D|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.E389D	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	467						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGAAGGAAATACTAGAAG	0.358000													12	43					0	0	0.105934	0	0
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:53855012A>G	ENST00000458035.1	+	4	1201	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388000													3	74					0	0	0.004672	0	0
DICER1	23405	broad.mit.edu	37	14	95562205	95562205	+	Silent	SNP	G	G	A	rs145027662	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:95562205G>A	ENST00000526495.1	-	25	5343	c.5052C>T	c.(5050-5052)ctC>ctT	p.L1684L	DICER1_ENST00000393063.1_Silent_p.L1684L|DICER1_ENST00000541352.1_Silent_p.L1684L|DICER1_ENST00000556045.1_Silent_p.L582L|DICER1_ENST00000343455.3_Silent_p.L1684L|DICER1_ENST00000527414.1_Silent_p.L1684L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1684	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAAAAGCCTGGAGAAGGTAAG	0.393000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				31	45					0	0	0.045705	0	0
MCM8	84515	broad.mit.edu	37	20	5937839	5937839	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937839G>A	ENST00000378896.3	+	6	931	c.554G>A	c.(553-555)gGa>gAa	p.G185E	MCM8_ENST00000378886.2_Missense_Mutation_p.G185E|MCM8_ENST00000378883.1_Missense_Mutation_p.G185E|MCM8_ENST00000265187.4_Missense_Mutation_p.G185E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	185					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCTAATGATGGAGAAACAATG	0.383000													5	37					0	0	0.029380	0	0
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158589083G>C	ENST00000368147.4	-	45	6639	c.6459C>G	c.(6457-6459)gtC>gtG	p.V2153V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473000													7	239					0	0	0.029380	0	0
SH2D3A	10045	broad.mit.edu	37	19	6752630	6752630	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:6752630A>G	ENST00000245908.6	-	10	1974	c.1705T>C	c.(1705-1707)Tcg>Ccg	p.S569P	SH2D3A_ENST00000437152.3_Missense_Mutation_p.S476P	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	569					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGGCGCTGCGACAGGACGCCG	0.667000													2	4					0	0	0.004672	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966617	26966617	+	Silent	SNP	G	G	C	rs147060997	by1000genomes	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966617G>C	ENST00000528896.2	-	10	1133	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	KIAA0100_ENST00000389003.3_Silent_p.L210L|KIAA0100_ENST00000544884.1_Silent_p.L210L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	353						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAGGGAGTTGAGGCAGACAA	0.473000													14	147					0	0	0.020292	0	0
XIST	7503	broad.mit.edu	37	X	73069448	73069448	+	RNA	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:73069448G>A	ENST00000429829.1	-	0	3140					NR_001564.2																						TCAACGTACCGAGTAAGGAAA	0.403000													34	38					0	0	0.064281	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378715	101378715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:101378715C>T	ENST00000312938.4	-	6	2538	c.1958G>A	c.(1957-1959)tGt>tAt	p.C653Y		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACATATGGAACATATAAATTC	0.413000													21	86					0	0	0.049695	0	0
KDM6A	7403	broad.mit.edu	37	X	44966654	44966654	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:44966654G>A	ENST00000377967.4	+	27	3919		c.e27-1		KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCCACAATAGGTATTGTCTT	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								22	21					0	0	0.069288	0	0
RAD50	10111	broad.mit.edu	37	5	131925439	131925439	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925439G>A	ENST00000378823.3	+	9	1763	c.945G>A	c.(943-945)caG>caA	p.Q315Q	RAD50_ENST00000265335.6_Silent_p.Q454Q	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	454			V -> L (in dbSNP:rs28903090).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGAAGCAGAATGAGCTGA	0.353000								Homologous recombination					10	18					0	0	0.080935	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919414	94919414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:94919414G>A	ENST00000289495.5	+	18	3906	c.3690G>A	c.(3688-3690)atG>atA	p.M1230I	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M1308I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M1032I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.M1032I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M1187I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M1187I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1032						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCTTGGAATGACAGCATCCC	0.413000										HNSCC(28;0.073)			11	51					0	0	0.080935	0	0
PDSS1	23590	broad.mit.edu	37	10	26998684	26998684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:26998684C>T	ENST00000376215.5	+	5	507	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	PDSS1_ENST00000376203.5_Missense_Mutation_p.H152Y	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	152					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAATATTCATCATAACAACTC	0.393000													27	112					0	0	0.134883	0	0
CASZ1	54897	broad.mit.edu	37	1	10715772	10715772	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:10715772G>A	ENST00000377022.3	-	9	1916	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D	CASZ1_ENST00000344008.5_Silent_p.D533D	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTGCAGTCGTCCAGCGGGC	0.612000													10	47					0	0	0.058154	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100797	74100797	+	Missense_Mutation	SNP	C	C	T	rs147227290		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:74100797C>T	ENST00000338820.3	-	4	840	c.691G>A	c.(691-693)Gac>Aac	p.D231N	DNAJB12_ENST00000444643.2_Missense_Mutation_p.D197N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.D231N|DNAJB12_ENST00000461919.1_5'UTR	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	197					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GGGGAGATGTCGGCCTCAAAG	0.607000													9	36					0	0	0.047766	0	0
SPAG4	6676	broad.mit.edu	37	20	34206013	34206013	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr20:34206013C>G	ENST00000374273.3	+	5	655	c.543C>G	c.(541-543)ttC>ttG	p.F181L	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	181					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGCATTCTGGCTGGGGC	0.557000													23	105					0	0	0.108266	0	0
PRPF40A	55660	broad.mit.edu	37	2	153515522	153515522	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:153515522C>G	ENST00000410080.1	-	24	3049	c.2508G>C	c.(2506-2508)gaG>gaC	p.E836D		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	863					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TATAACTTCTCTCTGAGTAGC	0.323000													5	15					0	0	0.014758	0	0
SRCAP	10847	broad.mit.edu	37	16	30749639	30749639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:30749639G>A	ENST00000262518.4	+	34	8663	c.8278G>A	c.(8278-8280)Gaa>Aaa	p.E2760K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E2602K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2698K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2760	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTGGTAGAGGAAAAGGAACT	0.627000													7	71					0	0	0.038147	0	0
TNK2	10188	broad.mit.edu	37	3	195594701	195594701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:195594701G>C	ENST00000333602.6	-	12	3040	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*	TNK2_ENST00000428187.1_Nonsense_Mutation_p.S840*|TNK2_ENST00000392400.1_Nonsense_Mutation_p.S808*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.S886*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	808	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGTGAGCTTGAGAGCCGGGG	0.711000													7	41					0	0	0.038147	0	0
CCKBR	887	broad.mit.edu	37	11	6292495	6292495	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:6292495C>T	ENST00000525462.1	+	4	1276	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R272C|CCKBR_ENST00000334619.2_Missense_Mutation_p.R356C			P32239	GASR_HUMAN	cholecystokinin B receptor	356					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACACGTGGCGCGCCTTTGA	0.567000													16	58					0	0	0.146539	0	0
PPP4R4	57718	broad.mit.edu	37	14	94732160	94732160	+	Missense_Mutation	SNP	C	C	G	rs147765941		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:94732160C>G	ENST00000304338.3	+	22	2468	c.2314C>G	c.(2314-2316)Cga>Gga	p.R772G		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	772						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R772*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAAACTGATTCGAAGCCAGTC	0.368000													12	111					0	0	0.080935	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879235	39879235	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:39879235A>C	ENST00000530275.1	+	1	3085	c.2890A>C	c.(2890-2892)Acc>Ccc	p.T964P	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	964	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			TGCAGTGCCCACCCCAGAGGA	0.731000													4	80					0	0	0.029380	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:154544295G>A	ENST00000368476.3	+	5	1260	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	332					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642000													5	34					0	0	0.014758	0	0
MCM8	84515	broad.mit.edu	37	20	5937835	5937835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr20:5937835G>A	ENST00000378896.3	+	6	927	c.550G>A	c.(550-552)Gat>Aat	p.D184N	MCM8_ENST00000378883.1_Missense_Mutation_p.D184N|MCM8_ENST00000265187.4_Missense_Mutation_p.D184N|MCM8_ENST00000378886.2_Missense_Mutation_p.D184N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	184					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATTGTCTAATGATGGAGAAAC	0.383000													6	36					0	0	0.038147	0	0
PAH	5053	broad.mit.edu	37	12	103246654	103246654	+	Nonsense_Mutation	SNP	G	G	A	rs5030850		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:103246654G>A	ENST00000553106.1	-	7	1253	c.781C>T	c.(781-783)Cga>Tga	p.R261*	PAH_ENST00000307000.2_Nonsense_Mutation_p.R256*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	261			R -> P (in PKU).|R -> Q (in PKU; mild; haplotypes 1,2,4,22, 24,28; dbSNP:rs5030849).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGAAGACTCGGAAGGCCAGG	0.542000													5	82					0	0	0.021553	0	0
MTUS1	57509	broad.mit.edu	37	8	17611429	17611429	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr8:17611429C>T	ENST00000381869.3	-	2	2361	c.1888G>A	c.(1888-1890)Gtt>Att	p.V630I	MTUS1_ENST00000519263.1_Missense_Mutation_p.V630I|MTUS1_ENST00000381862.3_Missense_Mutation_p.V630I|MTUS1_ENST00000262102.6_Missense_Mutation_p.V630I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	630						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AACGCAGAAACGGACCCGGTC	0.438000													5	92					0	0	0.021553	0	0
C9orf172	389813	broad.mit.edu	37	9	139739870	139739870	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:139739870C>T	ENST00000436881.1	+	1	1004	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	335	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						CGCACCTTCCCAATCCAGGAA	0.692000													6	22					0	0	0.021553	0	0
GAREM	64762	broad.mit.edu	37	18	29867522	29867522	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr18:29867522C>T	ENST00000399218.4	-	4	1093	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	GAREM_ENST00000269209.6_Silent_p.V346V|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGTCGGTTTTCACATCACGGA	0.557000													24	109					0	0	0.076483	0	0
LGR5	8549	broad.mit.edu	37	12	71977759	71977759	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:71977759C>G	ENST00000266674.5	+	18	2280	c.1969C>G	c.(1969-1971)Ctg>Gtg	p.L657V	LGR5_ENST00000536515.1_Missense_Mutation_p.L585V|LGR5_ENST00000540815.2_Missense_Mutation_p.L633V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	657						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGCTTACTCTGGCAGCCCT	0.448000													27	95					0	0	0.108266	0	0
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:29576387G>A	ENST00000377034.4	-	16	2318	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	GABBR1_ENST00000355973.3_Silent_p.F544F|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Silent_p.F599F|GABBR1_ENST00000377012.4_Silent_p.F544F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	661					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.F661F(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCTGGCAGACGAAAGGAAACT	0.547000													15	73					0	0	0.132662	0	0
SNTG2	54221	broad.mit.edu	37	2	1079260	1079260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:1079260C>G	ENST00000308624.5	+	2	258	c.129C>G	c.(127-129)atC>atG	p.I43M	SNTG2_ENST00000407292.1_Missense_Mutation_p.I43M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	43					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTATGACATCCGGCTGAAGC	0.473000													21	97					0	0	0.069288	0	0
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706000													6	11					0	0	0.021553	0	0
ABCC1	4363	broad.mit.edu	37	16	16232288	16232288	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:16232288G>A	ENST00000399408.2	+	31	4565	c.4390G>A	c.(4390-4392)Gat>Aat	p.D1464N	ABCC1_ENST00000346370.5_Missense_Mutation_p.D1398N|ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000399410.3_Missense_Mutation_p.D1454N|ABCC1_ENST00000351154.5_Missense_Mutation_p.D1395N|ABCC1_ENST00000349029.5_Missense_Mutation_p.D1339N			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1454	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTTGTGTTGGATGAGGCCAC	0.602000													10	32					0	0	0.069234	0	0
CD97	976	broad.mit.edu	37	19	14517528	14517528	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:14517528G>C	ENST00000242786.5	+	16	2145	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	CD97_ENST00000358600.3_Missense_Mutation_p.E596Q|CD97_ENST00000357355.3_Missense_Mutation_p.E640Q|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	689					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGACTTTGAGCAGGGCTT	0.622000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	191					0	0	0.069456	0	0
PGRMC1	10857	broad.mit.edu	37	X	118374364	118374364	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chrX:118374364G>A	ENST00000217971.7	+	2	532	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	141	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	p.D141N(1)		lung(6)	6						TGAGTACGATGACCTTTCTGA	0.483000													29	97					0	0	0.125774	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126696	37126696	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:37126696C>T	ENST00000336755.5	+	2	473	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.L122F	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	123							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTCTTCTTCTCTTCAATCTAA	0.368000													25	196					0	0	0.083992	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													8	28					0	0	0.038147	0	0
TRPM3	80036	broad.mit.edu	37	9	73230868	73230868	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:73230868C>G	ENST00000377110.3	-	17	2689	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	TRPM3_ENST00000396292.4_Missense_Mutation_p.E688Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E816Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E688Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E843Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E820Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E675Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E678Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E665Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E678Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E675Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E663Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGGGCTTCTCTGGTTCTTCT	0.458000													21	77					0	0	0.062417	0	0
TTN	7273	broad.mit.edu	37	2	179473525	179473525	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:179473525T>C	ENST00000589042.1	-	274	52437	c.52213A>G	c.(52213-52215)Act>Gct	p.T17405A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T14837A|TTN_ENST00000342175.6_Missense_Mutation_p.T8532A|TTN_ENST00000591111.1_Missense_Mutation_p.T15764A|TTN_ENST00000460472.2_Missense_Mutation_p.T8340A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8465A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15764	Fibronectin type-III 26.						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)			TTTTCCAAAGTGTAGTTTATG	0.378000													20	83					0	0	0.055883	0	0
RALBP1	10928	broad.mit.edu	37	18	9535846	9535846	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr18:9535846G>C	ENST00000019317.4	+	10	2102	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	RALBP1_ENST00000383432.3_Missense_Mutation_p.E627Q			Q15311	RBP1_HUMAN	ralA binding protein 1	627					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CGGCGTCCTTGAGCCAAAAGC	0.657000													4	9					0	0	0.014758	0	0
DISP2	85455	broad.mit.edu	37	15	40659556	40659556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:40659556C>G	ENST00000267889.3	+	8	1330	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	415					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGCACTTTCTGCTTGACAG	0.587000													86	276					0	0	0.139131	0	0
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr4:62845433C>G	ENST00000512091.2	+	17	3501	c.2754C>G	c.(2752-2754)atC>atG	p.I918M	LPHN3_ENST00000508946.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506700.1_Missense_Mutation_p.I918M|LPHN3_ENST00000514996.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506746.1_Missense_Mutation_p.I986M|LPHN3_ENST00000514157.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506720.1_Missense_Mutation_p.I986M|LPHN3_ENST00000507164.1_Missense_Mutation_p.I986M|LPHN3_ENST00000514591.1_Missense_Mutation_p.I918M|LPHN3_ENST00000504896.1_Missense_Mutation_p.I918M|LPHN3_ENST00000509896.1_Missense_Mutation_p.I986M|LPHN3_ENST00000507625.1_Missense_Mutation_p.I986M|LPHN3_ENST00000511324.1_Missense_Mutation_p.I986M|LPHN3_ENST00000545650.1_Missense_Mutation_p.I918M|LPHN3_ENST00000508693.1_Missense_Mutation_p.I986M			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTCTGCATCAGTCTCTTTG	0.458000													13	184					0	0	0.119110	0	0
WDR33	55339	broad.mit.edu	37	2	128464101	128464101	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:128464101C>G	ENST00000322313.4	-	22	3965	c.3807G>C	c.(3805-3807)caG>caC	p.Q1269H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1269					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)		TGGGCACTCTCTGAGCAGGTC	0.517000													17	79					0	0	0.033300	0	0
ITGA5	3678	broad.mit.edu	37	12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:54799103G>A	ENST00000293379.4	-	12	1333	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	358					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTGAGGCCGCCCGTCAGGG	0.647000													6	26					0	0	0.021553	0	0
KLHL12	59349	broad.mit.edu	37	1	202880307	202880307	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:202880307C>G	ENST00000367261.3	-	5	810	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	KLHL12_ENST00000435533.3_Missense_Mutation_p.E236Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	198				FE -> LG (in Ref. 3; BAD96792).	Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGACAGCCTCAAAGACTGGC	0.473000													87	132					0	0	0.139131	0	0
ZNF280D	54816	broad.mit.edu	37	15	56950642	56950642	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:56950642C>T	ENST00000559237.1	-	16	2681	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K	ZNF280D_ENST00000267807.7_Silent_p.K679K|ZNF280D_ENST00000559000.1_Silent_p.K666K|ZNF280D_ENST00000396245.1_Silent_p.K383K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAATGCTTCTTAAAAATAC	0.259000													5	38					0	0	0.029380	0	0
HK1	3098	broad.mit.edu	37	10	71144659	71144659	+	Silent	SNP	G	G	A	rs148999865		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:71144659G>A	ENST00000448642.2	+	17	2321	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	HK1_ENST00000404387.2_Silent_p.T613T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T608T|HK1_ENST00000359426.6_Silent_p.T609T|HK1_ENST00000360289.2_Silent_p.T597T			P19367	HXK1_HUMAN	hexokinase 1	609	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.T608T(1)|p.T613T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCCAGCAGACGAGTCTGGACG	0.587000													9	173					0	0	0.047766	0	0
MPDZ	8777	broad.mit.edu	37	9	13176368	13176368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:13176368G>C	ENST00000319217.7	-	20	2945	c.2698C>G	c.(2698-2700)Ctg>Gtg	p.L900V	MPDZ_ENST00000381015.4_Missense_Mutation_p.L900V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L900V|MPDZ_ENST00000381022.2_Missense_Mutation_p.L900V|MPDZ_ENST00000541718.1_Missense_Mutation_p.L900V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L900V|MPDZ_ENST00000447879.1_Missense_Mutation_p.L900V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	900					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)		AGTTCCTCCAGAGACATATGC	0.378000													4	26					0	0	0.009096	0	0
MOAP1	64112	broad.mit.edu	37	14	93649993	93649993	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:93649993C>A	ENST00000556883.1	-	2	1079	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	MOAP1_ENST00000298894.4_Missense_Mutation_p.D199Y			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	199					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttctctacatctggcacctgc	0.473000													28	103					1.5548e-18	2.16949e-18	0.108266	1	0
CTNNA3	29119	broad.mit.edu	37	10	69281696	69281696	+	Silent	SNP	G	G	C	rs74142830	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:69281696G>C	ENST00000433211.2	-	5	657	c.483C>G	c.(481-483)ctC>ctG	p.L161L	CTNNA3_ENST00000545309.1_Silent_p.L161L|CTNNA3_ENST00000373744.4_Silent_p.L161L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAACATTTTTGAGAGACTCAA	0.383000													3	76					0	0	0.115264	0	0
CYP2A6	1548	broad.mit.edu	37	19	41354576	41354576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:41354576C>A	ENST00000301141.5	-	3	456	c.436G>T	c.(436-438)Gag>Tag	p.E146*	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	146					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATGCGCTCCTCGATGCCTCGC	0.692000													15	64					4.7546e-09	6.45421e-09	0.146539	1	0
ACACA	31	broad.mit.edu	37	17	35479509	35479509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:35479509G>A	ENST00000353139.5	-	49	6563	c.6082C>T	c.(6082-6084)Cga>Tga	p.R2028*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.R1913*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R1933*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.R1991*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.R117*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1991	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTACTGTTCGGGTTTCTACA	0.463000													24	117					0	0	0.099896	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473242	66473242	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:66473242C>T	ENST00000533211.1	-	14	2051	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E574K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E574K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	574					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACCAGCTCGTGCAGCTGC	0.667000													11	29					0	0	0.069234	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124236904	124236904	+	Silent	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:124236904A>T	ENST00000330342.3	+	17	2378	c.2130A>T	c.(2128-2130)ggA>ggT	p.G710G		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	710					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGAAGAGGGAAATCACCAGG	0.398000													12	48					0	0	0.093190	0	0
CACNG4	27092	broad.mit.edu	37	17	64961035	64961035	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:64961035G>C	ENST00000262138.3	+	1	10	c.8G>C	c.(7-9)cGa>cCa	p.R3P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	3					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCATGGTGCGATGCGACCGC	0.761000													5	8					0	0	0.014758	0	0
KLHL12	59349	broad.mit.edu	37	1	202880190	202880190	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:202880190C>G	ENST00000367261.3	-	5	927	c.709G>C	c.(709-711)Gat>Cat	p.D237H	KLHL12_ENST00000435533.3_Missense_Mutation_p.D275H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	237					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTCAGCATCTATTACATCT	0.438000													86	122					0	0	0.139131	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	51					0	0	0.009096	0	0
GABPA	2551	broad.mit.edu	37	21	27137078	27137078	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr21:27137078G>C	ENST00000354828.3	+	9	1643	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	GABPA_ENST00000400075.3_Missense_Mutation_p.E372D	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	372					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TGAACTATGAGAAACTCAGTC	0.333000													9	50					0	0	0.047766	0	0
MLH1	4292	broad.mit.edu	37	3	37092133	37092133	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:37092133G>C	ENST00000231790.2	+	19	2476	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	MLH1_ENST00000458205.2_Missense_Mutation_p.E513Q|MLH1_ENST00000435176.1_Missense_Mutation_p.E656Q|MLH1_ENST00000536378.1_Intron|MLH1_ENST00000539477.1_Missense_Mutation_p.E513Q|MLH1_ENST00000455445.2_Missense_Mutation_p.E513Q	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	754					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CAAAGTCTTTGAGAGGTGTTA	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	51					0	0	0.119110	0	0
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:54966652C>T	ENST00000394636.4	+	2	829	c.492C>T	c.(490-492)ttC>ttT	p.F164F	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.F98F|IRX5_ENST00000320990.5_Silent_p.F164F			P78411	IRX5_HUMAN	iroquois homeobox 5	164					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.F164F(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCACCTGGTTCGCCAACGCGC	0.597000													28	205					0	0	0.116897	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33631370	33631370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:33631370G>T	ENST00000321505.4	+	14	4426	c.4246G>T	c.(4246-4248)Gga>Tga	p.G1416*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.G1422*					KIAA1549-like																		CAAGAGGAAGGGATATTACGA	0.517000													9	18					2.17888e-05	2.87957e-05	0.058154	1	0
SPTBN1	6711	broad.mit.edu	37	2	54856191	54856191	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:54856191C>T	ENST00000333896.5	+	13	2266	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	SPTBN1_ENST00000356805.4_Silent_p.L640L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	640					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCGCCGCCTCTGGAAGTTCT	0.592000													37	132					0	0	0.086207	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793638	100793638	+	Silent	SNP	C	C	T	rs147080547		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:100793638C>T	ENST00000361529.3	+	4	336	c.258C>T	c.(256-258)taC>taT	p.Y86Y	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	86					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTCCGGTACGGCAACCCTG	0.687000													7	122					0	0	0.047766	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918001	48918001	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:48918001G>C	ENST00000311378.4	+	2	1880	c.1352G>C	c.(1351-1353)cGg>cCg	p.R451P	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R358P|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	451	NTR.					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)			TGCAAGCCTCGGCAGAAGCTC	0.647000													6	81					0	0	0.021553	0	0
SETX	23064	broad.mit.edu	37	9	135205429	135205429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:135205429G>A	ENST00000372169.2	-	10	1738	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	SETX_ENST00000224140.5_Missense_Mutation_p.S519F|SETX_ENST00000393220.1_Missense_Mutation_p.S519F			Q7Z333	SETX_HUMAN	senataxin	519					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACAGTGAAGATATCATTGC	0.448000													5	142					0	0	0.014758	0	0
DIDO1	11083	broad.mit.edu	37	20	61537316	61537316	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr20:61537316G>A	ENST00000266070.4	-	6	1836	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	DIDO1_ENST00000266071.5_Missense_Mutation_p.S504L|DIDO1_ENST00000370366.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395340.1_Missense_Mutation_p.S504L|DIDO1_ENST00000354665.4_Missense_Mutation_p.S504L|DIDO1_ENST00000395343.1_Missense_Mutation_p.S504L|DIDO1_ENST00000370371.4_Missense_Mutation_p.S504L|DIDO1_ENST00000370368.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395335.2_Missense_Mutation_p.S504L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	504					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)					GCTCGCCCACGACGGCGTGCT	0.532000													10	203					0	0	0.069234	0	0
GMPPA	29926	broad.mit.edu	37	2	220367145	220367145	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:220367145G>A	ENST00000358215.3	+	6	840	c.471G>A	c.(469-471)gaG>gaA	p.E157E	GMPPA_ENST00000373908.1_Silent_p.E157E|GMPPA_ENST00000313597.5_Silent_p.E157E|GMPPA_ENST00000373917.3_Silent_p.E157E|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Silent_p.E157E	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	157					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCATCGTTGAGAATCCACAGA	0.582000													10	24					0	0	0.069234	0	0
IGBP1	3476	broad.mit.edu	37	X	69353901	69353901	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chrX:69353901C>T	ENST00000342206.6	+	1	603	c.104C>T	c.(103-105)tCc>tTc	p.S35F	IGBP1_ENST00000356413.4_Missense_Mutation_p.S35F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	35					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CCCGCCGGTTCCCGGATAGTC	0.562000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	39					0	0	0.043863	0	0
GPR61	83873	broad.mit.edu	37	1	110086651	110086651	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086651C>G	ENST00000527748.1	+	2	1690	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	336						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCTTCACTTCCAACCCTTTC	0.532000													31	907					0	0	0.144211	0	0
COMTD1	118881	broad.mit.edu	37	10	76993969	76993969	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:76993969C>T	ENST00000372538.3	-	7	733	c.651G>A	c.(649-651)ggG>ggA	p.G217G	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	217						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCAGCACCTTCCCGCGCCACA	0.706000													5	46					0	0	0.021553	0	0
EPS15L1	58513	broad.mit.edu	37	19	16552747	16552747	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:16552747G>A	ENST00000597937.1	-	3	125	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	EPS15L1_ENST00000535753.2_Missense_Mutation_p.L41F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.L41F|CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L41F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L41F	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	41	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTAGAAAAAGCGCAGCTTCA	0.517000											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	160					0	0	0.054565	0	0
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086556C>G	ENST00000527748.1	+	2	1595	c.912C>G	c.(910-912)ttC>ttG	p.F304L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577000													22	705					0	0	0.069288	0	0
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:201982405G>C	ENST00000359651.3	+	6	3976	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q|ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632000													25	85					0	0	0.083992	0	0
TET2	54790	broad.mit.edu	37	4	106156981	106156981	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr4:106156981G>A	ENST00000540549.1	+	3	2742	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	TET2_ENST00000305737.2_Missense_Mutation_p.E628K|TET2_ENST00000413648.2_Missense_Mutation_p.E628K|TET2_ENST00000380013.4_Missense_Mutation_p.E628K|TET2_ENST00000513237.1_Missense_Mutation_p.E649K|TET2_ENST00000545826.1_Missense_Mutation_p.E628K|TET2_ENST00000394764.1_Missense_Mutation_p.E628K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	628	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACACAGCTGGAGCACAAGTC	0.478000			"""Mis N, F"""		MDS								5	29					0	0	0.014758	0	0
BRD7	29117	broad.mit.edu	37	16	50354583	50354583	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:50354583C>G	ENST00000394688.3	-	14	1762	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	BRD7_ENST00000394689.2_Missense_Mutation_p.D536H			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	535					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCTTCAGAGTCAAAAACTTCA	0.433000													26	410					0	0	0.091800	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958378	122958378	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:122958378G>A	ENST00000543897.1	-	12	3431	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S359F|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.S597F|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S208F			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	597						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGGACTGGAGGCATGTCC	0.488000													52	201					0	0	0.139131	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983432	17983432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:17983432G>A	ENST00000222248.3	+	1	651	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	102			A -> P.		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGTCCTCACCGCCCTGCTCTT	0.662000													5	72					0	0	0.029380	0	0
NLRP7	199713	broad.mit.edu	37	19	55453113	55453113	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:55453113G>A	ENST00000446217.1	-	4	453	c.51C>T	c.(49-51)ttC>ttT	p.F17F	NLRP7_ENST00000340844.2_5'UTR|NLRP7_ENST00000588756.1_5'UTR|NLRP7_ENST00000590030.1_5'UTR|NLRP7_ENST00000592784.1_5'UTR|NLRP7_ENST00000448121.2_5'UTR|NLRP7_ENST00000328092.5_5'UTR			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGTTAAGGCTGAAGAACTGGG	0.468000													6	33					0	0	0.029380	0	0
GPR27	2850	broad.mit.edu	37	3	71803240	71803240	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:71803240G>C	ENST00000304411.2	+	1	40	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	EIF4E3_ENST00000421769.2_Intron|EIF4E3_ENST00000448225.1_Intron	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	14						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CGGCGGCGGCGAGGCGGCCGC	0.766000													2	3					0	0	0.115264	0	0
TERF2	7014	broad.mit.edu	37	16	69419321	69419321	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:69419321A>G	ENST00000254942.3	-	2	464	c.448T>C	c.(448-450)Tcg>Ccg	p.S150P	TERF2_ENST00000603068.1_Missense_Mutation_p.S108P|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.S150P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	108	TRFH dimerization.				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)				TCAATCCGCGACAGACACTGC	0.488000													45	346					0	0	0.139131	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123020	12123020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:12123020G>A	ENST00000379388.2	+	4	3324	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	998					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAGAACCTGAGCACAGCCC	0.463000													7	209					0	0	0.038147	0	0
CFAP221	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:120413990G>A	ENST00000602047.1	+	25	2721	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E823K			Q4G0U5	PCDP1_HUMAN		823						cilium	calmodulin binding	p.E537K(1)				Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473000													10	45					0	0	0.080935	0	0
TIMM44	10469	broad.mit.edu	37	19	7992973	7992973	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:7992973C>T	ENST00000270538.3	-	11	1385	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	373					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGACGTTGTCAATGTCTAGG	0.637000													6	26					0	0	0.029380	0	0
MICAL2	9645	broad.mit.edu	37	11	12248632	12248632	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:12248632C>G	ENST00000256194.4	+	15	2237	c.1949C>G	c.(1948-1950)tCt>tGt	p.S650C	MICAL2_ENST00000379612.3_Missense_Mutation_p.S650C|MICAL2_ENST00000537344.1_Missense_Mutation_p.S650C|MICAL2_ENST00000527546.1_Missense_Mutation_p.S650C|MICAL2_ENST00000342902.5_Missense_Mutation_p.S650C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	650						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCATCCATTTCTAATAACTAT	0.448000													5	27					0	0	0.047766	0	0
PARD3B	117583	broad.mit.edu	37	2	206480357	206480357	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:206480357G>A	ENST00000406610.2	+	23	3645	c.3438G>A	c.(3436-3438)ccG>ccA	p.P1146P	PARD3B_ENST00000349953.3_Silent_p.P1045P|PARD3B_ENST00000351153.1_Silent_p.P1077P|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Silent_p.P1084P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1146	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCCACCCCCGCCAGCTCCCC	0.617000													22	76					0	0	0.062417	0	0
ALG2	85365	broad.mit.edu	37	9	101980827	101980827	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:101980827C>T	ENST00000476832.1	-	2	701	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ALG2_ENST00000319033.6_Missense_Mutation_p.E121K	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	214					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCCAGCTTTTCAGGAACAACT	0.448000													26	69					0	0	0.091800	0	0
IQCH	64799	broad.mit.edu	37	15	67649729	67649729	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:67649729G>C	ENST00000335894.4	+	7	750	c.684G>C	c.(682-684)gtG>gtC	p.V228V	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Silent_p.V55V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	228										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGCAGAAGTGAAGTTCTTTC	0.383000													10	44					0	0	0.080935	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567199	99567199	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:99567199G>A	ENST00000331335.5	-	5	3791	c.3321C>T	c.(3319-3321)gtC>gtT	p.V1107V	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.V867V|FILIP1L_ENST00000487087.1_Silent_p.V683V|FILIP1L_ENST00000471562.1_Silent_p.V867V|FILIP1L_ENST00000354552.3_Silent_p.V1107V	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1107						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						TACTGCTGGTGACTTTATTGG	0.458000													37	153					0	0	0.069456	0	0
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:207041526C>A	ENST00000407325.2	-	3	808	c.446G>T	c.(445-447)cGa>cTa	p.R149L	GPR1_ENST00000437420.1_Missense_Mutation_p.R149L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463000													17	48					1.67942e-08	2.2593e-08	0.038395	1	0
KMT2D	8085	broad.mit.edu	37	12	49434818	49434818	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:49434818G>C	ENST00000301067.7	-	31	6734	c.6735C>G	c.(6733-6735)ctC>ctG	p.L2245L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCGGGGTTTGAGGAATGGGT	0.657000													18	52					0	0	0.043863	0	0
KRT6B	3854	broad.mit.edu	37	12	52845415	52845415	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:52845415G>C	ENST00000252252.3	-	1	495	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	150	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAATTTGCAGGTTGAGGGGA	0.612000													17	122					0	0	0.049695	0	0
KCNA10	3744	broad.mit.edu	37	1	111061247	111061247	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:111061247C>T	ENST00000369771.2	-	1	550	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	55						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTGGTGCTTTCGCTGATGAGG	0.582000													14	79					0	0	0.119110	0	0
CNTN1	1272	broad.mit.edu	37	12	41337481	41337481	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:41337481A>T	ENST00000551295.2	+	13	1579	c.1462A>T	c.(1462-1464)Aat>Tat	p.N488Y	CNTN1_ENST00000547849.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.N488Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.N477Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.N488Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	488	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTGCAGAAAATAACAGAGG	0.333000													6	30					0	0	0.029380	0	0
GTPBP8	29083	broad.mit.edu	37	3	112709949	112709949	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:112709949G>A	ENST00000383677.3	+	1	118	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GTPBP8_ENST00000383678.2_Missense_Mutation_p.E35K|RP11-484K9.4_ENST00000609673.1_RNA	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	35					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGCTTTTGCTGAGGTGCTGCG	0.632000													24	59					0	0	0.091800	0	0
NOL7	51406	broad.mit.edu	37	6	13620657	13620657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:13620657C>T	ENST00000451315.2	+	7	672	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	AL441883.1_ENST00000600057.1_Missense_Mutation_p.R66K|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	214						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GTTCCTGTCTCTTGCCAACAA	0.333000													15	53					0	0	0.038395	0	0
RYR1	6261	broad.mit.edu	37	19	38966027	38966027	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:38966027C>G	ENST00000355481.4	+	29	4361	c.4230C>G	c.(4228-4230)ctC>ctG	p.L1410L	RYR1_ENST00000359596.3_Silent_p.L1410L|RYR1_ENST00000360985.3_Silent_p.L1410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1410	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCCCCGACTCCCTCACGACG	0.622000													4	34					0	0	0.009096	0	0
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr4:159547979G>A	ENST00000307765.5	+	10	1014	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RXFP1_ENST00000343542.5_Missense_Mutation_p.E255K|RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.E222K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E174K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264000													10	14					0	0	0.069234	0	0
GPR61	83873	broad.mit.edu	37	1	110086286	110086286	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086286C>T	ENST00000527748.1	+	2	1325	c.642C>T	c.(640-642)gtC>gtT	p.V214V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	214						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTTGCTGTCCTTTACTTTC	0.607000													28	989					0	0	0.091800	0	0
IQCB1	9657	broad.mit.edu	37	3	121491405	121491405	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:121491405C>G	ENST00000310864.6	-	14	1780	c.1566G>C	c.(1564-1566)atG>atC	p.M522I	IQCB1_ENST00000349820.6_Splice_Site_p.M389I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	522					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGCACATACTCATTAGCTGTT	0.443000													25	103					0	0	0.125774	0	0
ZNF229	7772	broad.mit.edu	37	19	44936420	44936420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:44936420G>C	ENST00000291187.4	-	5	537	c.215C>G	c.(214-216)tCa>tGa	p.S72*	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.S72*|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCACCCACTGAGAGTAGGTT	0.468000													22	144					0	0	0.083992	0	0
POLR2B	5431	broad.mit.edu	37	4	57860643	57860643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr4:57860643C>T	ENST00000381227.1	+	5	730	c.317C>T	c.(316-318)tCa>tTa	p.S106L	POLR2B_ENST00000441246.2_Missense_Mutation_p.S99L|POLR2B_ENST00000431623.2_Missense_Mutation_p.S31L|POLR2B_ENST00000314595.5_Missense_Mutation_p.S106L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGTGCTCCTTCACCAATGATG	0.338000													8	24					0	0	0.038147	0	0
NUDT19	390916	broad.mit.edu	37	19	33202726	33202726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:33202726G>T	ENST00000397061.3	+	3	991	c.991G>T	c.(991-993)Gaa>Taa	p.E331*		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	331						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AAAGACTGAGGAAATCATGAA	0.348000													11	60					1.58986e-06	2.11982e-06	0.069234	1	0
AIM1	202	broad.mit.edu	37	6	106968294	106968294	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:106968294C>G	ENST00000369066.3	+	2	2474	c.1987C>G	c.(1987-1989)Caa>Gaa	p.Q663E		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	663							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCACTCCTCAAAGGCCAGA	0.493000													16	68					0	0	0.146539	0	0
OR2W5	441932	broad.mit.edu	37	1	247654547	247654547	+	RNA	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:247654547G>A	ENST00000522351.1	+	0	178							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)			CCTGACCCTGGTGGGCAACAC	0.488000													5	85					0	0	0.014758	0	0
PCDH20	64881	broad.mit.edu	37	13	61987145	61987145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr13:61987145C>T	ENST00000409186.1	-	5	3192	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	PCDH20_ENST00000409204.4_Missense_Mutation_p.V363I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCTTGTGGAACTTTCTGACTG	0.433000													31	76					0	0	0.144211	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772943	140772943	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:140772943G>C	ENST00000398604.2	+	1	563	c.563G>C	c.(562-564)gGa>gCa	p.G188A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGAGCCATAAAC	0.632000													12	32					0	0	0.080935	0	0
CD248	57124	broad.mit.edu	37	11	66083095	66083095	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:66083095C>T	ENST00000311330.3	-	1	1420	c.1404G>A	c.(1402-1404)gtG>gtA	p.V468V	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	468	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGCAGGGATCACAGGAGGCT	0.622000													34	125					0	0	0.080422	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208508	13208508	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:13208508G>A	ENST00000197268.8	+	2	181	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	21						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACCTAGGGGAGTATGATCC	0.473000													16	45					0	0	0.033300	0	0
ZNF671	79891	broad.mit.edu	37	19	58238866	58238866	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:58238866C>G	ENST00000317398.6	-	1	126	c.31G>C	c.(31-33)Gat>Cat	p.D11H	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.D11H|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		TGCAGAGCATCAGACGCGTCT	0.667000													8	41					0	0	0.038147	0	0
ACTL9	284382	broad.mit.edu	37	19	8808334	8808334	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:8808334C>T	ENST00000324436.3	-	1	838	c.718G>A	c.(718-720)Ggc>Agc	p.G240S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGGCAGGCCGGCCTGGAGC	0.657000													14	45					0	0	0.119110	0	0
NRARP	441478	broad.mit.edu	37	9	140196037	140196037	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:140196037C>T	ENST00000356628.2	-	1	666	c.344G>A	c.(343-345)tGa>tAa	p.*115*		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	0					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGGCGGGCATCACCGGCCGCT	0.731000													4	6					0	0	0.009096	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194497	70194497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:70194497G>T	ENST00000253925.7	+	16	2349	c.2134G>T	c.(2134-2136)Gaa>Taa	p.E712*	PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E712*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	712					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCCAGCTCGGGAAGTGGACAG	0.602000													64	163					2.73361e-28	3.85016e-28	0.139131	1	0
OR6K6	128371	broad.mit.edu	37	1	158725151	158725151	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:158725151C>T	ENST00000368144.2	+	1	642	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GTGGCTTCCTCCTTGTGCTTC	0.478000													26	144					0	0	0.091800	0	0
MAP3K4	4216	broad.mit.edu	37	6	161527688	161527688	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:161527688C>G	ENST00000392142.4	+	20	4147	c.3999C>G	c.(3997-3999)caC>caG	p.H1333Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.H1279Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H1329Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.H1283Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1333					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGTTATGCACGTTGGCTTGA	0.398000													4	47					0	0	0.014758	0	0
LMO7	4008	broad.mit.edu	37	13	76427499	76427499	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr13:76427499C>A	ENST00000357063.3	+	29	6052	c.4792C>A	c.(4792-4794)Cag>Aag	p.Q1598K	LMO7_ENST00000377534.3_Missense_Mutation_p.Q1598K|LMO7_ENST00000526202.1_Missense_Mutation_p.Q1190K|LMO7_ENST00000321797.8_Missense_Mutation_p.Q1313K|LMO7_ENST00000341547.4_Missense_Mutation_p.Q1264K|LMO7_ENST00000465261.2_Missense_Mutation_p.Q1313K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1598						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGCTTCACAGTCAGGCTC	0.542000													11	37					7.03913e-09	9.51233e-09	0.093190	1	0
GALC	2581	broad.mit.edu	37	14	88411957	88411957	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:88411957C>T	ENST00000261304.2	-	14	1716	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K	GALC_ENST00000393569.2_Missense_Mutation_p.R511K|GALC_ENST00000393568.4_Missense_Mutation_p.R514K|GALC_ENST00000544807.2_Missense_Mutation_p.R481K	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	537					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTAATGGGTCTCTGGTTGAG	0.428000													45	93					0	0	0.139131	0	0
CEP85L	387119	broad.mit.edu	37	6	118845073	118845073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:118845073C>G	ENST00000368491.3	-	4	1652	c.1031G>C	c.(1030-1032)gGa>gCa	p.G344A	CEP85L_ENST00000360290.3_Missense_Mutation_p.G242A|CEP85L_ENST00000392500.3_Missense_Mutation_p.G347A|CEP85L_ENST00000368488.5_Missense_Mutation_p.G347A|CEP85L_ENST00000419517.2_Missense_Mutation_p.G344A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	344						centrosome											ACGAGATGATCCAGTCAAAAC	0.279000													18	77					0	0	0.062417	0	0
RFX6	222546	broad.mit.edu	37	6	117241560	117241560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:117241560C>G	ENST00000332958.2	+	12	1286	c.1270C>G	c.(1270-1272)Caa>Gaa	p.Q424E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	424					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTGGCTCTCAAGCCCTTCT	0.418000													27	123					0	0	0.108266	0	0
MYOM3	127294	broad.mit.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:24419481G>A	ENST00000330966.7	-	10	1211	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	MYOM3_ENST00000329601.7_Missense_Mutation_p.S349L|MYOM3_ENST00000374434.3_Missense_Mutation_p.S349L|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.									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)		TCCGAAGGGCGAGGGCACCCG	0.642000													9	28					0	0	0.047766	0	0
ASXL2	55252	broad.mit.edu	37	2	25982476	25982476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:25982476C>G	ENST00000435504.4	-	9	1107	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.E12Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E244Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E12Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGTGTCTCAACGTCAATG	0.423000													64	104					0	0	0.139131	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635586	109635586	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:109635586C>T	ENST00000338272.8	+	2	1155	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B							Golgi membrane|integral to membrane				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						GAAAGTACCTCGTCTCAAAAC	0.453000													90	297					0	0	0.139131	0	0
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:38643647G>A	ENST00000299084.4	+	7	1977	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	373	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423000									Legius syndrome				42	104					0	0	0.086207	0	0
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:96706267C>T	ENST00000389672.5	+	3	582	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R182C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R88C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	87	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R88C(2)|p.R182C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAACTGGCTTCGTACAAACTG	0.428000													24	150					0	0	0.076483	0	0
DGKD	8527	broad.mit.edu	37	2	234358738	234358738	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:234358738G>A	ENST00000264057.2	+	16	2011	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	DGKD_ENST00000409813.3_Missense_Mutation_p.E623K	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCCACAGCGAGAGCTTCGG	0.622000													6	38					0	0	0.038147	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:26031885C>G	ENST00000244661.2	-	1	403	c.404G>C	c.(403-405)aGa>aCa	p.R135T		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATTTACGCTCTTTCTCCGCG	0.453000													20	71					0	0	0.049695	0	0
RAD50	10111	broad.mit.edu	37	5	131925448	131925448	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:131925448G>A	ENST00000378823.3	+	9	1772	c.954G>A	c.(952-954)ctG>ctA	p.L318L	RAD50_ENST00000265335.6_Silent_p.L457L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	457					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAATGAGCTGAAAAATGTGA	0.343000								Homologous recombination					10	21					0	0	0.080935	0	0
XIST	7503	broad.mit.edu	37	X	73071333	73071333	+	RNA	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chrX:73071333T>C	ENST00000429829.1	-	0	1255					NR_001564.2																						TCCGCCATTTTGGACAACCTA	0.502000													42	253					0	0	0.139131	0	0
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:117662862C>T	ENST00000317775.6	-	25	4470	c.3785G>A	c.(3784-3786)cGa>cAa	p.R1262Q	NOS1_ENST00000338101.4_Missense_Mutation_p.R1296Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1262					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1262Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGAAGCTTCGGAAAGGGGC	0.617000													42	160					0	0	0.111260	0	0
SNAP91	9892	broad.mit.edu	37	6	84303326	84303326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:84303326G>C	ENST00000428679.2	-	18	2160	c.1567C>G	c.(1567-1569)Cct>Gct	p.P523A	SNAP91_ENST00000195649.6_Missense_Mutation_p.P523A|SNAP91_ENST00000439399.2_Missense_Mutation_p.P523A|SNAP91_ENST00000521485.1_Missense_Mutation_p.P523A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P523A|SNAP91_ENST00000520302.1_Missense_Mutation_p.P521A|SNAP91_ENST00000521743.1_Missense_Mutation_p.P523A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	523	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		gcaggagaaggagcagTTGCG	0.622000													3	6					0	0	0.014758	0	0
GPR61	83873	broad.mit.edu	37	1	110086287	110086287	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086287C>A	ENST00000527748.1	+	2	1326	c.643C>A	c.(643-645)Ctt>Att	p.L215I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	215						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTTGCTGTCCTTTACTTTCT	0.607000													31	992					2.4375e-19	3.41705e-19	0.125774	1	0
NOXRED1	122945	broad.mit.edu	37	14	77861083	77861083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:77861083G>C	ENST00000380835.2	-	6	1137	c.971C>G	c.(970-972)tCa>tGa	p.S324*		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	324					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGGACTACTTGAGAGATGCTG	0.443000													14	60					0	0	0.132662	0	0
ZNF112	7665	broad.mit.edu	37	19	44832455	44832455	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:44832455G>C	ENST00000354340.4	-	4	1906	c.1855C>G	c.(1855-1857)Caa>Gaa	p.Q619E	ZNF112_ENST00000536500.1_Missense_Mutation_p.Q642E|ZNF112_ENST00000337401.4_Missense_Mutation_p.Q625E	NM_013380.3	NP_037512.3			zinc finger protein 112									p.Q625E(1)|p.Q619E(1)									TGATGGCCTTGAAGGTGTGAA	0.458000													25	171					0	0	0.091800	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277009	123277009	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr4:123277009G>C	ENST00000264501.4	+	83	14737	c.14364G>C	c.(14362-14364)aaG>aaC	p.K4788N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4788N			Q2LD37	K1109_HUMAN	KIAA1109	4788					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						CTACTGTGAAGAATTCTAGTT	0.363000													19	29					0	0	0.043863	0	0
APOB	338	broad.mit.edu	37	2	21225673	21225673	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:21225673T>C	ENST00000233242.1	-	29	12748	c.12621A>G	c.(12619-12621)aaA>aaG	p.K4207K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4207					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATCCCAGGTTTCCCCGGAA	0.433000													12	65					0	0	0.093190	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:26123851C>T	ENST00000314332.5	-	1	287	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2BC_ENST00000396984.1_Silent_p.E94E			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E94D(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCGTCTGGATCTCCCTGGAGG	0.597000													24	153					0	0	0.083992	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998908	56998908	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:56998908G>A	ENST00000179765.5	-	15	2806	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	BAZ2A_ENST00000549884.1_Silent_p.V899V|BAZ2A_ENST00000551812.1_Silent_p.V901V|BAZ2A_ENST00000379441.3_Silent_p.V871V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	901	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCAGCAGCCTGACCAGCAGGT	0.557000													9	55					0	0	0.058154	0	0
PDXK	8566	broad.mit.edu	37	21	45161560	45161560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr21:45161560G>A	ENST00000291565.4	+	3	338	c.155G>A	c.(154-156)tGg>tAg	p.W52*	PDXK_ENST00000468090.1_Nonsense_Mutation_p.W52*|PDXK_ENST00000467908.1_Nonsense_Mutation_p.W12*	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	52					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TATGCCCACTGGAAGGGCCAA	0.577000													5	83					0	0	0.021553	0	0
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr9:6592946C>G	ENST00000321612.6	-	10	1456	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507000													18	90					0	0	0.038395	0	0
NOX5	79400	broad.mit.edu	37	15	69320560	69320560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:69320560C>G	ENST00000260364.5	+	4	427	c.126C>G	c.(124-126)ttC>ttG	p.F42L	NOX5_ENST00000388866.3_Missense_Mutation_p.F60L|NOX5_ENST00000448182.3_Missense_Mutation_p.F42L|NOX5_ENST00000455873.3_Missense_Mutation_p.F53L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.F60L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	60	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CACAGTCCTTCTTTGCAGAGC	0.577000													29	159					0	0	0.050027	0	0
GPR61	83873	broad.mit.edu	37	1	110086724	110086724	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086724C>T	ENST00000527748.1	+	2	1763	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	360						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGCTTCTTCAAGCCAGCTC	0.557000													14	466					0	0	0.146539	0	0
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:143701978G>T	ENST00000408922.2	+	1	957	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K296fs*1(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433000													16	64					1.02788e-11	1.42104e-11	0.033300	1	0
GPR61	83873	broad.mit.edu	37	1	110086715	110086715	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086715C>G	ENST00000527748.1	+	2	1754	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAGTTTGTCTGCTTCTTCA	0.562000													16	498					0	0	0.038395	0	0
MTRF1L	54516	broad.mit.edu	37	6	153316427	153316427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:153316427C>A	ENST00000367233.5	-	3	366	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Nonsense_Mutation_p.E123*|MTRF1L_ENST00000367230.1_Nonsense_Mutation_p.E123*	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	123						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCATCTGTTTCTTCTGAGGGA	0.303000													5	18					0.00198382	0.00258759	0.029380	1	0
DNTT	1791	broad.mit.edu	37	10	98064410	98064410	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:98064410C>T	ENST00000419175.1	+	1	326	c.156C>T	c.(154-156)ctC>ctT	p.L52L	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Silent_p.L52L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	52	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGCGTTCCTCATGGAGCTGG	0.493000													8	35					0	0	0.047766	0	0
GSTM5	2949	broad.mit.edu	37	1	110255280	110255280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110255280C>G	ENST00000369812.5	+	2	148	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000256593.3_Nonsense_Mutation_p.S26*			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	26	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACACAGACTCAAGCTATGTG	0.607000													20	690					0	0	0.049695	0	0
FKBP10	60681	broad.mit.edu	37	17	39973408	39973408	+	Missense_Mutation	SNP	G	G	A	rs137853882		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:39973408G>A	ENST00000321562.4	+	2	448	c.344G>A	c.(343-345)cGa>cAa	p.R115Q		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	115	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AACGAGCGGCGACGCCTCATT	0.647000													16	68					0	0	0.132662	0	0
HYDIN	54768	broad.mit.edu	37	16	70908274	70908274	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:70908274C>T	ENST00000393567.2	-	64	11032	c.10882G>A	c.(10882-10884)Gaa>Aaa	p.E3628K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3628										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTATGTCTTCCTGGCTGGTG	0.507000													19	223					0	0	0.076483	0	0
PRKD3	23683	broad.mit.edu	37	2	37487528	37487528	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:37487528C>G	ENST00000379066.1	-	15	2647		c.e15-1		PRKD3_ENST00000234179.2_Splice_Site			O94806	KPCD3_HUMAN	protein kinase D3						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GGTGCAAATTCTGAAGAGAGG	0.388000													7	37					0	0	0.038147	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745310	140745310	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:140745310C>G	ENST00000518069.1	+	1	1413	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTCTATCTTCTCTGTGA	0.542000													33	120					0	0	0.054565	0	0
RERG	85004	broad.mit.edu	37	12	15262116	15262116	+	Silent	SNP	C	C	T	rs147938337	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:15262116C>T	ENST00000256953.2	-	5	864	c.528G>A	c.(526-528)aaG>aaA	p.K176K	RERG_ENST00000546331.1_Silent_p.K157K|RERG_ENST00000538313.1_Silent_p.K176K|RERG_ENST00000536465.1_Silent_p.K176K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	176					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCGCCTCGTCTTGCCCTGCA	0.522000													37	86					0	0	0.069456	0	0
MAST1	22983	broad.mit.edu	37	19	12954349	12954349	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:12954349C>T	ENST00000251472.4	+	4	294	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MAST1_ENST00000591495.1_Silent_p.D81D	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	85					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGGGCGGACGGACGCCGGT	0.667000													6	62					0	0	0.038147	0	0
DISP1	84976	broad.mit.edu	37	1	223175804	223175804	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:223175804A>G	ENST00000284476.6	+	8	1229	c.1065A>G	c.(1063-1065)ggA>ggG	p.G355G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGACACTGGGAAACTACATCG	0.502000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	174					0	0	0.038147	0	0
USP54	159195	broad.mit.edu	37	10	75301468	75301468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:75301468G>A	ENST00000339859.4	-	7	701	c.601C>T	c.(601-603)Cga>Tga	p.R201*	USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000408019.1_Nonsense_Mutation_p.R201*|USP54_ENST00000319786.7_Nonsense_Mutation_p.R201*			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	201					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTTTCTCTCGTCTTTCCAGC	0.453000													16	53					0	0	0.033300	0	0
SCN9A	6335	broad.mit.edu	37	2	167151173	167151173	+	Splice_Site	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:167151173C>T	ENST00000303354.6	-	8	1245		c.e8-1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000409435.1_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAAAATATTCTGTTGAAGAA	0.303000													6	31					0	0	0.021553	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155170	38155170	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr22:38155170C>T	ENST00000406386.3	+	17	6478	c.6223C>T	c.(6223-6225)Ctt>Ttt	p.L2075F	TRIOBP_ENST00000407319.2_Missense_Mutation_p.L362F|TRIOBP_ENST00000403663.2_Missense_Mutation_p.L362F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2075					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGTTCAGGCTCTTCGGGCCCA	0.652000													5	28					0	0	0.021553	0	0
KRT39	390792	broad.mit.edu	37	17	39120762	39120762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:39120762C>T	ENST00000355612.2	-	2	522	c.487G>A	c.(487-489)Gag>Aag	p.E163K	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	163	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGAATTCTCGGCCTTGGTA	0.443000													38	131					0	0	0.069456	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506789	37506789	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:37506789G>C	ENST00000374660.1	+	39	3538	c.3439G>C	c.(3439-3441)Gaa>Caa	p.E1147Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1028Q|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1028Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAGTGTAGAAAGTAATTT	0.284000													8	30					0	0	0.047766	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598164	46598164	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:46598164G>C	ENST00000398637.5	-	11	1436	c.742C>G	c.(742-744)Cca>Gca	p.P248A	SLC38A1_ENST00000546893.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000549049.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000439706.1_Missense_Mutation_p.P248A	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	248					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTAGCTCTGGAACAATGCAG	0.323000													29	140					0	0	0.116897	0	0
ICA1L	130026	broad.mit.edu	37	2	203650663	203650663	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:203650663C>G	ENST00000392237.2	-	13	1468	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	ICA1L_ENST00000358299.2_Missense_Mutation_p.Q437H	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	437										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTGGACTCTGTGAAGGCA	0.328000													38	79					0	0	0.104719	0	0
ELF3	1999	broad.mit.edu	37	1	201982087	201982087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:201982087C>G	ENST00000359651.3	+	5	3803	c.611C>G	c.(610-612)tCt>tGt	p.S204C	ELF3_ENST00000367284.5_Missense_Mutation_p.S204C|ELF3_ENST00000367283.3_Missense_Mutation_p.S204C|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	204					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGGTGCTTCTCGGAGCTCC	0.647000													11	40					0	0	0.069234	0	0
PRKD3	23683	broad.mit.edu	37	2	37487476	37487476	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:37487476C>T	ENST00000379066.1	-	15	2698	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E646K			O94806	KPCD3_HUMAN	protein kinase D3	646	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAGACTCGTTCTGGGGTTTCA	0.393000													12	46					0	0	0.093190	0	0
ACOT11	26027	broad.mit.edu	37	1	55072835	55072835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:55072835G>A	ENST00000371316.3	+	14	1481	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E467K	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	467	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCAGGTAGACGAGGACGACGC	0.647000													9	28					0	0	0.047766	0	0
HEATR3	55027	broad.mit.edu	37	16	50118104	50118104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:50118104G>T	ENST00000299192.7	+	9	1383	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E312*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	398							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGCATTTATGGAGAATTCCTT	0.502000													12	155					5.50884e-06	7.31262e-06	0.093190	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657919	72657919	+	RNA	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:72657919C>T	ENST00000425256.1	-	0	1992																											ctatggagctcagttgaggca	0.488000													32	138					0	0	0.086207	0	0
EIF2B2	8892	broad.mit.edu	37	14	75469786	75469786	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr14:75469786C>T	ENST00000266126.5	+	1	173	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	31					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CGCGCAGCTCCGAGGAAATGG	0.667000													19	39					0	0	0.043863	0	0
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr19:53855012A>G	ENST00000458035.1	+	4	1201	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388000													3	74					0	0	0.115264	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803315	142803315	+	RNA	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:142803315A>C	ENST00000423385.1	-	0	1650																											ACAGGATGTAAAGCATACACA	0.378000													2	3					0	0	0.115264	0	0
CELF2	10659	broad.mit.edu	37	10	11207533	11207533	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:11207533G>A	ENST00000379261.4	+	2	230	c.138G>A	c.(136-138)caG>caA	p.Q46Q	CELF2_ENST00000354440.2_Silent_p.Q22Q|CELF2_ENST00000399850.3_Silent_p.Q22Q|CELF2_ENST00000427450.1_Silent_p.Q22Q|CELF2_ENST00000315874.4_Silent_p.Q22Q|CELF2_ENST00000609692.1_Silent_p.Q22Q|CELF2_ENST00000417956.2_Silent_p.Q22Q|CELF2_ENST00000542579.1_Silent_p.Q53Q|CELF2_ENST00000450189.1_Silent_p.Q53Q|CELF2_ENST00000416382.2_Silent_p.Q46Q|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000608830.1_Silent_p.Q22Q|CELF2_ENST00000354897.3_Silent_p.Q22Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	46	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGTCGGACAGATCCCCCGGT	0.522000													27	91					0	0	0.099896	0	0
POLE	5426	broad.mit.edu	37	12	133210898	133210898	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:133210898C>G	ENST00000320574.5	-	43	5921	c.5878G>C	c.(5878-5880)Gat>Cat	p.D1960H	POLE_ENST00000535270.1_Missense_Mutation_p.D1933H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1960					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		tcctccccatctctttcctcc	0.522000								DNA polymerases (catalytic subunits)					17	62					0	0	0.038395	0	0
SETD5	55209	broad.mit.edu	37	3	9517349	9517349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:9517349C>A	ENST00000402466.1	+	24	4377	c.3609C>A	c.(3607-3609)agC>agA	p.S1203R	SETD5_ENST00000407969.1_Missense_Mutation_p.S1320R|SETD5_ENST00000302463.6_Missense_Mutation_p.S1203R|SETD5_ENST00000402198.1_Missense_Mutation_p.S1301R|SETD5_ENST00000406341.1_Missense_Mutation_p.S1301R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1301	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTATTCCAGCCCCGCCCACC	0.547000													13	52					6.94344e-10	9.46833e-10	0.038395	1	0
C6orf10	10665	broad.mit.edu	37	6	32261600	32261600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:32261600C>G	ENST00000375015.4	-	26	1047	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	C6orf10_ENST00000527965.1_Missense_Mutation_p.E268Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E275Q|C6orf10_ENST00000447241.2_Missense_Mutation_p.E284Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E282Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E282Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	284						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGTCTTTCTCTAAATCAGTG	0.388000													8	280					0	0	0.038147	0	0
MUC13	56667	broad.mit.edu	37	3	124646788	124646788	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr3:124646788C>G	ENST00000311075.3	-	2	140	c.102G>C	c.(100-102)gcG>gcC	p.A34A	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	34	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GACCACTAGTCGCAGTTTCTG	0.453000													25	100					0	0	0.091800	0	0
SIL1	64374	broad.mit.edu	37	5	138386694	138386694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:138386694G>A	ENST00000394817.2	-	4	425	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SIL1_ENST00000265195.5_Nonsense_Mutation_p.Q96*|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Nonsense_Mutation_p.Q103*	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	96	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCCAGTCTGAAGATTCAGC	0.493000									Marinesco-Sjgren syndrome				47	82					0	0	0.139131	0	0
RAD50	10111	broad.mit.edu	37	5	131925439	131925439	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:131925439G>A	ENST00000378823.3	+	9	1763	c.945G>A	c.(943-945)caG>caA	p.Q315Q	RAD50_ENST00000265335.6_Silent_p.Q454Q	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	454			V -> L (in dbSNP:rs28903090).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGAAGCAGAATGAGCTGA	0.353000								Homologous recombination					10	18					0	0	0.080935	0	0
RAD50	10111	broad.mit.edu	37	5	131925479	131925479	+	Missense_Mutation	SNP	G	G	A	rs145031602	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr5:131925479G>A	ENST00000378823.3	+	9	1803	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	RAD50_ENST00000265335.6_Missense_Mutation_p.E468K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	468					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGCAGTTGGAAGGATCTTC	0.318000								Homologous recombination					11	18					0	0	0.132662	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000													7	42					0	0	0.029380	0	0
PHF12	57649	broad.mit.edu	37	17	27235835	27235835	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:27235835C>T	ENST00000332830.4	-	12	3234	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	808					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCACATGTTCACAGCTCCTC	0.507000													8	64					0	0	0.058154	0	0
RADIL	55698	broad.mit.edu	37	7	4917471	4917471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:4917471G>T	ENST00000399583.3	-	2	487	c.300C>A	c.(298-300)taC>taA	p.Y100*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Y100*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	100	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGTCCAGGGCGTACCGCTCCA	0.682000													14	95					2.61681e-11	3.60112e-11	0.119110	1	0
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:38840895C>G	ENST00000359357.3	+	49	7054	c.6800C>G	c.(6799-6801)tCt>tGt	p.S2267C	DNAH8_ENST00000441566.1_Missense_Mutation_p.S2231C|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2484C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAGCAGCTCTGCTCTCAGC	0.502000													22	94					0	0	0.083992	0	0
DGKH	160851	broad.mit.edu	37	13	42623082	42623082	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr13:42623082C>G	ENST00000261491.5	+	1	194	c.173C>G	c.(172-174)tCg>tGg	p.S58W	DGKH_ENST00000540693.1_Missense_Mutation_p.S58W|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.S58W	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGTCTACCTCGGGGCAGATC	0.706000													2	6					0	0	0.115264	0	0
GPR61	83873	broad.mit.edu	37	1	110086421	110086421	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086421C>G	ENST00000527748.1	+	2	1460	c.777C>G	c.(775-777)ctC>ctG	p.L259L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	259						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGAATCTCTCAGCAGCCGCT	0.672000													25	727					0	0	0.083992	0	0
GDF3	9573	broad.mit.edu	37	12	7842947	7842947	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:7842947C>G	ENST00000329913.3	-	2	669	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	208					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTCTATCTTCTTTGACCAGT	0.493000													23	49					0	0	0.062417	0	0
OGDHL	55753	broad.mit.edu	37	10	50947854	50947854	+	Silent	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:50947854G>T	ENST00000374103.4	-	17	2257	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	OGDHL_ENST00000432695.1_Silent_p.P515P|OGDHL_ENST00000419399.1_Silent_p.P667P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	724					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGGGCATTGGGGCTGGCCA	0.572000													14	27					4.3838e-07	5.87116e-07	0.105934	1	0
AGAP1	116987	broad.mit.edu	37	2	236617866	236617866	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:236617866C>T	ENST00000304032.8	+	2	787	c.207C>T	c.(205-207)gtC>gtT	p.V69V	AGAP1_ENST00000409538.1_Silent_p.V334V|AGAP1_ENST00000336665.5_Silent_p.V69V|AGAP1_ENST00000409457.1_Silent_p.V69V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCGATCTGTCCCGGAGCTCA	0.557000													43	151					0	0	0.139131	0	0
MCM8	84515	broad.mit.edu	37	20	5937839	5937839	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr20:5937839G>A	ENST00000378896.3	+	6	931	c.554G>A	c.(553-555)gGa>gAa	p.G185E	MCM8_ENST00000378883.1_Missense_Mutation_p.G185E|MCM8_ENST00000265187.4_Missense_Mutation_p.G185E|MCM8_ENST00000378886.2_Missense_Mutation_p.G185E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	185					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCTAATGATGGAGAAACAATG	0.383000													5	37					0	0	0.029380	0	0
GPR61	83873	broad.mit.edu	37	1	110086532	110086532	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110086532C>T	ENST00000527748.1	+	2	1571	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGACAGTTCCTGCTCTGTT	0.607000													24	536					0	0	0.076483	0	0
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:158589083G>C	ENST00000368147.4	-	45	6639	c.6459C>G	c.(6457-6459)gtC>gtG	p.V2153V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473000													7	239					0	0	0.029380	0	0
BEST3	144453	broad.mit.edu	37	12	70066697	70066697	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:70066697C>G	ENST00000330891.5	-	8	1142	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	BEST3_ENST00000476098.1_Missense_Mutation_p.E93Q|BEST3_ENST00000331471.4_Missense_Mutation_p.E306Q|BEST3_ENST00000553096.1_Missense_Mutation_p.E200Q|BEST3_ENST00000488961.1_Missense_Mutation_p.E93Q	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	306						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTTAGTTTCAAAATCATCA	0.328000													10	39					0	0	0.080935	0	0
GSTM5	2949	broad.mit.edu	37	1	110257886	110257886	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110257886C>A	ENST00000369813.1	+	5	1373	c.468C>A	c.(466-468)ctC>ctA	p.L156L	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTCCTTTCTCTTTGATGCCC	0.478000													23	409					3.62473e-10	4.96539e-10	0.062417	1	0
GPR101	83550	broad.mit.edu	37	X	136112888	136112888	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chrX:136112888C>T	ENST00000298110.1	-	1	945	c.946G>A	c.(946-948)Ggc>Agc	p.G316S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	316						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCCATGCTGCCGTCGCTGGCC	0.597000													39	283					0	0	0.074837	0	0
TRIM35	23087	broad.mit.edu	37	8	27168708	27168708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr8:27168708G>C	ENST00000305364.4	-	1	128	c.45C>G	c.(43-45)ttC>ttG	p.F15L	TRIM35_ENST00000521253.1_Missense_Mutation_p.F15L	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	15					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACTCCTCCTTGAAGGAGCGGG	0.706000													5	5					0	0	0.021553	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966617	26966617	+	Silent	SNP	G	G	C	rs147060997	by1000genomes	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr17:26966617G>C	ENST00000528896.2	-	10	1133	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	KIAA0100_ENST00000544884.1_Silent_p.L210L|KIAA0100_ENST00000389003.3_Silent_p.L210L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	353						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAGGGAGTTGAGGCAGACAA	0.473000													14	147					0	0	0.119110	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:33283569G>A	ENST00000431845.2	-	2	1276	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	ZBTB22_ENST00000418724.1_Silent_p.V375V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					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						CACAGAAGTTGACCTGCTCCT	0.602000													28	131					0	0	0.125774	0	0
GSTM5	2949	broad.mit.edu	37	1	110257880	110257880	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:110257880C>A	ENST00000369813.1	+	5	1367	c.462C>A	c.(460-462)tcC>tcA	p.S154S	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCCCATCCTCCTTTCTCTTTG	0.473000													24	439					7.87624e-14	1.09392e-13	0.076483	1	0
CHST1	8534	broad.mit.edu	37	11	45671793	45671793	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:45671793G>C	ENST00000308064.2	-	4	1351	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	227					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGACCTTGAGGTTTAATC	0.687000													19	26					0	0	0.043863	0	0
KAT5	10524	broad.mit.edu	37	11	65481068	65481068	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr11:65481068G>A	ENST00000341318.4	+	5	779	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R97Q|KAT5_ENST00000530446.1_Missense_Mutation_p.R130Q|KAT5_ENST00000377046.3_Missense_Mutation_p.R149Q|KAT5_ENST00000534650.1_5'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	149					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R182L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGCAGAAACGGAAGGTGGAG	0.547000													24	81					0	0	0.076483	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A	rs142508797	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000													3	34					0	0	0.115264	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr10:102738085G>C	ENST00000210633.3	+	5	547	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157Q|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157Q|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000													6	20					0	0	0.021553	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561860	145561860	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:145561860G>A	ENST00000355594.4	+	10	1635	c.1548G>A	c.(1546-1548)ccG>ccA	p.P516P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	516										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAGACCGGTCATGGAGG	0.627000													57	201					0	0	0.139131	0	0
ERCC3	2071	broad.mit.edu	37	2	128015226	128015226	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:128015226C>T	ENST00000493187.2	-	15	2566	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	ERCC3_ENST00000285398.2_Silent_p.R765R			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	765	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCGCCTTGCTCCGCGATGAGT	0.582000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	90					0	0	0.055883	0	0
PTPRO	5800	broad.mit.edu	37	12	15733754	15733754	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr12:15733754G>C	ENST00000281171.4	+	22	3451	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E230Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E202Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E230Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1013Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E202Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1041	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCAGTGTAATGAGAAAAGGAG	0.463000													13	54					0	0	0.119110	0	0
DNAH11	8701	broad.mit.edu	37	7	21920409	21920409	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:21920409G>A	ENST00000328843.6	+	76	12337	c.12306G>A	c.(12304-12306)ctG>ctA	p.L4102L	DNAH11_ENST00000409508.3_Silent_p.L4095L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4102	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGGAGACTGAGGTTTGGCC	0.478000									Kartagener syndrome				39	117					0	0	0.092188	0	0
KCNB2	9312	broad.mit.edu	37	8	73848919	73848919	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr8:73848919C>T	ENST00000523207.1	+	3	1917	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	443					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)			TTGAGCGGGCCAAAAGGAACG	0.458000													21	95					0	0	0.069288	0	0
ASXL3	80816	broad.mit.edu	37	18	31318552	31318552	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr18:31318552C>G	ENST00000269197.5	+	11	1184	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCCAGTTTCTGCACAGACA	0.488000													3	39					0	0	0.115264	0	0
ITGAD	3681	broad.mit.edu	37	16	31422500	31422500	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr16:31422500G>A	ENST00000389202.2	+	13	1509	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	487					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCAGACCCGAGGGGGCCAG	0.642000													25	97					0	0	0.099896	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081070	53081070	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr15:53081070T>C	ENST00000305901.5	-	1	1139	c.1012A>G	c.(1012-1014)Agc>Ggc	p.S338G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	338					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGAGTTTGCTCCAGGGTTTG	0.652000													19	44					0	0	0.062417	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919414	94919414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr7:94919414G>A	ENST00000289495.5	+	18	3906	c.3690G>A	c.(3688-3690)atG>atA	p.M1230I	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M1187I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M1308I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M1032I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M1187I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.M1032I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1032						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCTTGGAATGACAGCATCCC	0.413000										HNSCC(28;0.073)			11	51					0	0	0.080935	0	0
ELF3	1999	broad.mit.edu	37	1	201981484	201981494	+	Frame_Shift_Del	DEL	CTGATGAGCTC	CTGATGAGCTC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201981484_201981494delCTGATGAGCTC	ENST00000359651.3	+	3	3590_3600	c.398_408delCTGATGAGCTC	c.(397-408)tctgatgagctcfs	p.SDEL133fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Del_p.SDEL133fs|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SDEL133fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTCAGTTGGATCA	0.583													66	66	---	---	---	---					
SRP9	6726	broad.mit.edu	37	1	225977051	225977051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:225977051delA	ENST00000304786.7	+	3	363	c.251delA	c.(250-252)gaafs	p.E84fs	SRP9_ENST00000366838.1_3'UTR|SRP9_ENST00000366839.4_3'UTR	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	84					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			endometrium(1)|kidney(1)|skin(1)	3						GTTACCATGGAAACTGAGTGA	0.363													16	15	---	---	---	---					
WDR43	23160	broad.mit.edu	37	2	29117734	29117735	+	In_Frame_Ins	INS	-	-	CCT			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:29117734_29117735insCCT	ENST00000407426.3	+	1	226_227	c.170_171insCCT	c.(169-174)cacctc>caCCTcctc	p.58_59insL		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	58						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CCTTCCGCGCACCTCAGTGGTA	0.678													8	12	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:146755630_146755632delGAC	ENST00000361719.2	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				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)	CCCGCCCGCGGACGACGACGACG	0.650													7	788	---	---	---	---					
CALHM2	51063	broad.mit.edu	37	10	105209459	105209459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:105209459delC	ENST00000393235.1	-	3	1437	c.240delG	c.(238-240)tggfs	p.W80fs	CALHM2_ENST00000369788.3_Frame_Shift_Del_p.W80fs|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Frame_Shift_Del_p.W80fs			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	80						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCACGAGGTTCCAGGTGTGGT	0.662													28	104	---	---	---	---					
LOC101927058	101927058	broad.mit.edu	37	12	43030862	43030862	+	RNA	DEL	A	A	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:43030862delA	ENST00000550337.1	-	0	405																											TAAGCTAGATAACCAATTGCA	0.453													13	84	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26966333	26966334	+	Splice_Site	INS	-	-	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966333_26966334insT	ENST00000528896.2	-	11	1302_1303	c.1228_1229insA	c.(1228-1230)aga>aAga	p.R410fs	KIAA0100_ENST00000544884.1_Splice_Site_p.R267fs|KIAA0100_ENST00000389003.3_Splice_Site_p.R267fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCTT	0.436													97	135	---	---	---	---					
CARD14	79092	broad.mit.edu	37	17	78156494	78156494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:78156494delC	ENST00000573882.1	+	5	790	c.254delC	c.(253-255)gccfs	p.A85fs	CARD14_ENST00000344227.2_Frame_Shift_Del_p.A85fs|CARD14_ENST00000570421.1_Frame_Shift_Del_p.A85fs			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	85	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGAACGGGGCCATCGCCTTC	0.592													19	41	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9073469	9073470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9073469_9073470insA	ENST00000397910.4	-	3	14179_14180	c.13976_13977insT	c.(13975-13977)ttcfs	p.F4659fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4661	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTACTGAGAAAATATCTGG	0.455													53	116	---	---	---	---					
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579													8	652	---	---	---	---					
WDR43	23160	broad.mit.edu	37	2	29117734	29117735	+	In_Frame_Ins	INS	-	-	CCT			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr2:29117734_29117735insCCT	ENST00000407426.3	+	1	226_227	c.170_171insCCT	c.(169-174)cacctc>caCCTcctc	p.58_59insL		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	58						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CCTTCCGCGCACCTCAGTGGTA	0.678													8	12	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	721fce39-6078-4d04-b4da-590f4b142a57	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													4	9	---	---	---	---