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
TCEAL2	140597	broad.mit.edu	37	X	101382355	101382355	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:101382355A>G	ENST00000372780.1	+	3	772	c.553A>G	c.(553-555)Aaa>Gaa	p.K185E	TCEAL2_ENST00000329035.2_Missense_Mutation_p.K185E	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAGAAAAAGCAAACAGAAATT	0.453000													49	143					0	0	0.000781405	0	0
IRS4	8471	broad.mit.edu	37	X	107975913	107975913	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:107975913C>T	ENST00000372129.2	-	1	3738	c.3662G>A	c.(3661-3663)cGg>cAg	p.R1221Q	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.R2Q	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1221						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTGGCACCCGGCGACTGCG	0.592000													75	185					0	0	0.000781405	0	0
IWS1	55677	broad.mit.edu	37	2	128255777	128255777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:128255777C>A	ENST00000295321.4	-	6	1763	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	IWS1_ENST00000455721.2_Intron|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	502	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTGTGTTTCACCTTTTTCT	0.299000													23	61					2.39556e-15	8.8648e-15	0.00278032	1	0
PRPS1	5631	broad.mit.edu	37	X	106893251	106893251	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:106893251G>T	ENST00000372435.4	+	7	1068	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	PRPS1_ENST00000543248.1_Missense_Mutation_p.V316F|PRPS1_ENST00000372428.4_Missense_Mutation_p.V249F|PRPS1_ENST00000372418.1_Missense_Mutation_p.V216F	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	316					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATTCAGCCATGTCCCTTTATA	0.423000													37	85					5.71845e-15	2.10543e-14	0.00111076	1	0
TMEM194A	23306	broad.mit.edu	37	12	57453784	57453784	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453784C>T	ENST00000300128.4	-	9	1236	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TMEM194A_ENST00000379391.3_Missense_Mutation_p.E332K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	405						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACTCCTGCTCATGGACAGAA	0.448000													15	46					0	0	0.000308642	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298323	67298323	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67298323C>T	ENST00000299798.11	+	13	1976	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	637					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGAGGTCTTCCAGCAGAACA	0.587000													8	20					0	0	0.000442599	0	0
IFT88	8100	broad.mit.edu	37	13	21175890	21175890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:21175890C>T	ENST00000382778.4	+	13	2004	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	IFT88_ENST00000537103.1_Nonsense_Mutation_p.Q268*|IFT88_ENST00000351808.5_Nonsense_Mutation_p.Q287*|IFT88_ENST00000319980.6_Nonsense_Mutation_p.Q296*			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	296					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGGCTGGTCAGTATTCAGA	0.338000													13	52					0	0	0.00185496	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:170216488C>T	ENST00000231706.5	-	4	1042	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517000													15	44					0	0	0.000308642	0	0
GSAP	54103	broad.mit.edu	37	7	76982908	76982908	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:76982908G>T	ENST00000257626.7	-	17	1467	c.1389C>A	c.(1387-1389)ctC>ctA	p.L463L		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		ATTCCTGAATGAGGTCAAATG	0.373000													15	41					6.72482e-11	2.439e-10	0.000308642	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103041631	103041631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103041631C>T	ENST00000375735.2	+	34	5312	c.5168C>T	c.(5167-5169)tCa>tTa	p.S1723L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S1723L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1723	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGTGAAGTCAATGGGACGA	0.323000													7	20					0	0	0.00198382	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824180	94824180	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:94824180G>T	ENST00000285949.5	+	4	748	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	250					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCTGGAGGGGGCCATTTCTGA	0.612000													8	25					5.4927e-09	1.96766e-08	0.000274275	1	0
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	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													35	61					0	0	0.00148497	0	0
OGFOD1	55239	broad.mit.edu	37	16	56509430	56509430	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:56509430G>A	ENST00000566157.1	+	12	1543	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E431K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	474							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGAGCCAGAATATGGCGG	0.383000													41	63					0	0	0.000781405	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621205	39621205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:39621205G>C	ENST00000379600.3	+	6	1029	c.707G>C	c.(706-708)aGa>aCa	p.R236T	NHLRC3_ENST00000379599.2_Missense_Mutation_p.R169T|NHLRC3_ENST00000470258.1_Missense_Mutation_p.R39T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	236						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GGAAATAAAAGAATCCAAGTA	0.358000													20	40					0	0	0.00152264	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834167	125834167	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:125834167C>T	ENST00000299308.3	+	2	230	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	74						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCATTCTTCATCTACCGAG	0.512000													48	97					0	0	0.000781405	0	0
UBE3B	89910	broad.mit.edu	37	12	109927779	109927779	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109927779C>G	ENST00000342494.3	+	8	1195	c.600C>G	c.(598-600)ctC>ctG	p.L200L	UBE3B_ENST00000537063.1_Silent_p.L200L|UBE3B_ENST00000536398.1_Silent_p.L200L|UBE3B_ENST00000280774.5_Silent_p.L200L|UBE3B_ENST00000540230.1_Silent_p.L200L|UBE3B_ENST00000434735.2_Silent_p.L200L|UBE3B_ENST00000340074.5_Silent_p.L200L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGGGACATCTCAACCAGCATG	0.428000													27	79					0	0	0.00178596	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873589	91873589	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:91873589C>T	ENST00000373094.1	+	7	4539	c.3694C>T	c.(3694-3696)Cac>Tac	p.H1232Y	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1214Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1195Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1222Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1224Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1195Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1232					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1232N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACTGCACTTCACCACAGCCC	0.587000													39	94					0	0	0.00128727	0	0
OR52L1	338751	broad.mit.edu	37	11	6008147	6008147	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6008147G>C	ENST00000332249.4	-	1	68	c.14C>G	c.(13-15)tCt>tGt	p.S5C		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAAAAAAGAAACCAAAGT	0.423000													16	41					0	0	0.000566183	0	0
LRRK2	120892	broad.mit.edu	37	12	40716180	40716180	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:40716180C>T	ENST00000298910.7	+	37	5435	c.5377C>T	c.(5377-5379)Cct>Tct	p.P1793S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1793					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAATGGTTTCCTGGGTTGCT	0.383000													40	109					0	0	0.00222228	0	0
EPAS1	2034	broad.mit.edu	37	2	46583348	46583348	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583348G>A	ENST00000263734.3	+	3	786	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	92	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTGTACCTGAAAGCCTTGG	0.517000													22	57					0	0	0.00278032	0	0
KCNA1	3736	broad.mit.edu	37	12	5021124	5021124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:5021124G>A	ENST00000382545.3	+	2	1687	c.580G>A	c.(580-582)Gat>Aat	p.D194N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	194					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAGCTGAAGGATGACAAGGA	0.572000													18	30					0	0	0.000566183	0	0
NOL10	79954	broad.mit.edu	37	2	10712233	10712233	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:10712233C>T	ENST00000345985.3	-	20	1991	c.1881G>A	c.(1879-1881)ctG>ctA	p.L627L	NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L|NOL10_ENST00000381685.5_Silent_p.L677L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478000													88	203					0	0	0.000781405	0	0
NKAP	79576	broad.mit.edu	37	X	119077327	119077327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:119077327C>G	ENST00000371410.3	-	1	408	c.242G>C	c.(241-243)aGa>aCa	p.R81T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	81	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGCCGCTCTCTAGAACGCGA	0.662000													15	25					0	0	0.000422831	0	0
ZMYM3	9203	broad.mit.edu	37	X	70471052	70471052	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471052C>T	ENST00000373998.1	-	4	1451	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZMYM3_ENST00000314425.5_Missense_Mutation_p.E252K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E254K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.E252K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.E252K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E254K|ZMYM3_ENST00000373982.1_Missense_Mutation_p.E254K|ZMYM3_ENST00000373978.1_Missense_Mutation_p.E254K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	252					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTACAACCTCAGGTTTTGGA	0.532000													14	59					0	0	0.00121646	0	0
UBE3B	89910	broad.mit.edu	37	12	109937445	109937445	+	Silent	SNP	C	C	G	rs150323950	by1000genomes	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109937445C>G	ENST00000342494.3	+	12	1543	c.948C>G	c.(946-948)ctC>ctG	p.L316L	UBE3B_ENST00000280774.5_Silent_p.L316L|UBE3B_ENST00000434735.2_Silent_p.L316L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	316					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TAGGCAACCTCCTACACTTGG	0.582000													6	12					0	0	0.00116845	0	0
AP5B1	91056	broad.mit.edu	37	11	65545581	65545581	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:65545581C>T	ENST00000532090.2	-	2	2593	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	738							protein binding			lung(1)	1						ACACGACTCTCAGCACCCTCT	0.637000													20	58					0	0	0.00229938	0	0
BRS3	680	broad.mit.edu	37	X	135572431	135572431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:135572431C>G	ENST00000370648.3	+	2	802	c.574C>G	c.(574-576)Cga>Gga	p.R192G		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	192					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATACACTTTTCGAGATCCCAA	0.383000													37	54					0	0	0.000692331	0	0
SERPINA9	327657	broad.mit.edu	37	14	94942572	94942572	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:94942572C>G	ENST00000546329.1	-	1	98	c.20G>C	c.(19-21)aGa>aCa	p.R7T	SERPINA9_ENST00000337425.5_5'UTR|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000539349.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	0					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		aatctctcctctccctccagc	0.448000													26	67					0	0	0.00047179	0	0
NTM	50863	broad.mit.edu	37	11	132082042	132082042	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:132082042G>A	ENST00000374786.1	+	3	1005		c.e3+1		NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCTCCCAAAGGTAAGAGAACA	0.453000													35	89					0	0	0.00111076	0	0
SLC30A6	55676	broad.mit.edu	37	2	32419022	32419022	+	Missense_Mutation	SNP	C	C	G	rs148435831		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:32419022C>G	ENST00000282587.5	+	8	503	c.466C>G	c.(466-468)Cgg>Ggg	p.R156G	SLC30A6_ENST00000406369.1_Missense_Mutation_p.R82G|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Missense_Mutation_p.R127G|SLC30A6_ENST00000435660.1_Missense_Mutation_p.R156G|SLC30A6_ENST00000379343.2_Missense_Mutation_p.R196G	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	156						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTTCTATTCGGAATAAACC	0.303000													29	87					0	0	0.00283554	0	0
WAC	51322	broad.mit.edu	37	10	28906704	28906704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:28906704G>A	ENST00000375664.4	+	13	2339	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	WAC_ENST00000375646.1_Missense_Mutation_p.R470Q|WAC_ENST00000347934.4_Missense_Mutation_p.R519Q|WAC_ENST00000354911.4_Missense_Mutation_p.R622Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GCAACTTTGCGAGAGCAAAGG	0.299000													6	22					0	0	0.000157383	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394660	39394660	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:39394660G>C	ENST00000254072.6	+	1	364	c.357G>C	c.(355-357)caG>caC	p.Q119H		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	119	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCTAAACCAGAGCTGTGGCT	0.622000													30	66					0	0	0.00111076	0	0
TECTA	7007	broad.mit.edu	37	11	120980049	120980049	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:120980049G>C	ENST00000392793.1	+	4	599	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E110Q			O75443	TECTA_HUMAN	tectorin alpha	110	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E110K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATTCGAGGCGAGATCTATTA	0.512000													28	58					0	0	0.00178596	0	0
HNRNPM	4670	broad.mit.edu	37	19	8533687	8533687	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:8533687C>T	ENST00000348943.3	+	10	979	c.747C>T	c.(745-747)ttC>ttT	p.F249F	HNRNPM_ENST00000325495.4_Silent_p.F288F	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	288	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAGGAGATTTCTTCCCTCCTG	0.408000													24	47					0	0	0.00106085	0	0
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211279C>A	ENST00000302030.2	+	1	663	c.638C>A	c.(637-639)tCg>tAg	p.S213*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S213L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAGGAACATCGTTCCTCCAA	0.542000													47	98					4.00472e-15	1.4782e-14	0.000781405	1	0
CENPE	1062	broad.mit.edu	37	4	104082504	104082504	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:104082504C>G	ENST00000265148.3	-	19	2042	c.1953G>C	c.(1951-1953)ctG>ctC	p.L651L	CENPE_ENST00000380026.3_Silent_p.L626L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	651					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTCTCCTTCAGCTCCAGAT	0.333000													4	43					0	0	0.00024832	0	0
C9	735	broad.mit.edu	37	5	39306727	39306727	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:39306727T>C	ENST00000263408.4	-	9	1503	c.1408A>G	c.(1408-1410)Agt>Ggt	p.S470G		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	470	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTTTTTGACTAATGAGAACA	0.363000													15	41					0	0	0.000958276	0	0
CATSPERG	57828	broad.mit.edu	37	19	38851428	38851428	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:38851428G>A	ENST00000409235.3	+	16	1940	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E569K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	609					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGTGCCCGTGGAGCAGCTTCT	0.607000													4	11					0	0	0.00116845	0	0
CRLF1	9244	broad.mit.edu	37	19	18705144	18705144	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:18705144C>T	ENST00000392386.3	-	7	1318	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	375					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						ACGCGTGCTTCTTGAGCCAGC	0.701000													8	22					0	0	0.000157383	0	0
ITGAE	3682	broad.mit.edu	37	17	3661136	3661136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:3661136G>C	ENST00000263087.4	-	9	982	c.884C>G	c.(883-885)tCa>tGa	p.S295*		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	295	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCGTGGCTTGAGGTGAAGAT	0.522000													44	56					0	0	0.0025221	0	0
ZNF439	90594	broad.mit.edu	37	19	11978815	11978815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:11978815C>T	ENST00000304030.2	+	3	1131	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R175C	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CATGTGTCCCCGTTATGTTCG	0.413000													17	66					0	0	0.00121646	0	0
HIP1	3092	broad.mit.edu	37	7	75190635	75190635	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:75190635C>G	ENST00000336926.6	-	13	1215	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E397Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	397					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTATACCTCAGTCTTCATG	0.453000			T	PDGFRB	CMML								39	125					0	0	0.00148497	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390686	52390686	+	RNA	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:52390686A>C	ENST00000443374.2	+	0	1875																											TATTGCTTCCACAAGTGGTTT	0.483000													3	25					0	0	6.4e-05	0	0
ZNF511	118472	broad.mit.edu	37	10	135125328	135125328	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:135125328G>T	ENST00000359035.3	+	5	666	c.663G>T	c.(661-663)agG>agT	p.R221S	ZNF511_ENST00000361518.5_Missense_Mutation_p.R221S|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.R156S			Q8NB15	ZN511_HUMAN	zinc finger protein 511	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CAGGTGAGAGGCGGATCTACA	0.602000													19	72					0.000132079	0.000454177	0.00121646	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31838041	31838041	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:31838041G>T	ENST00000397525.1	-	17	2493	c.2270C>A	c.(2269-2271)tCc>tAc	p.S757Y	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S757Y|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S412Y|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S583Y|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S733Y	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	757						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGACAGTTTGGAATTTGTAGT	0.468000													42	113					5.48756e-27	2.06741e-26	0.00285205	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968706	62968706	+	RNA	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:62968706G>C	ENST00000430983.1	-	0	1538					NR_026903.1																						CTTGGGTAAAGATCAATCATT	0.373000													27	125					0	0	0.000878237	0	0
SYTL3	94120	broad.mit.edu	37	6	159166530	159166530	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166530G>C	ENST00000297239.9	+	11	1068	c.874G>C	c.(874-876)Gac>Cac	p.D292H	SYTL3_ENST00000360448.3_Missense_Mutation_p.D224H|SYTL3_ENST00000367081.3_Missense_Mutation_p.D18H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	292					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AATTAGCATTGACAGCACCTG	0.323000													7	21					0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21228217	21228217	+	Silent	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:21228217A>G	ENST00000233242.1	-	26	11650	c.11523T>C	c.(11521-11523)aaT>aaC	p.N3841N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3841					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)	TGGCTACTGCATTTAGATCCA	0.458000													32	71					0	0	0.00058488	0	0
DPYSL5	56896	broad.mit.edu	37	2	27162914	27162914	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:27162914C>T	ENST00000288699.6	+	9	1121	c.963C>T	c.(961-963)atC>atT	p.I321I	DPYSL5_ENST00000401478.1_Silent_p.I321I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGAACATCGTGGCATCAG	0.527000													36	87					0	0	0.00170553	0	0
BRIP1	83990	broad.mit.edu	37	17	59763374	59763374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:59763374C>G	ENST00000259008.2	-	19	2995	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.E910Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	910	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GAGGTCACTTCAAGTGTAGAC	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					83	101					0	0	0.000781405	0	0
CHD4	1108	broad.mit.edu	37	12	6692427	6692427	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6692427G>C	ENST00000309577.6	-	26	4160	c.3997C>G	c.(3997-3999)Ctg>Gtg	p.L1333V	CHD4_ENST00000544040.1_Missense_Mutation_p.L1326V|CHD4_ENST00000544484.1_Missense_Mutation_p.L1330V|CHD4_ENST00000357008.2_Missense_Mutation_p.L1333V|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1333					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTTTGCCCAGATTTCGGGCT	0.537000													89	171					0	0	0.000781405	0	0
CEP41	95681	broad.mit.edu	37	7	130038848	130038848	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:130038848C>G	ENST00000223208.5	-	11	1276	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	CEP41_ENST00000343969.5_Missense_Mutation_p.E264Q|CEP41_ENST00000541543.1_Missense_Mutation_p.E248Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol		p.E336*(1)									ACCTTGGACTCTCTTCCGGAG	0.587000													53	128					0	0	0.000781405	0	0
WTAP	9589	broad.mit.edu	37	6	160169273	160169273	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:160169273G>C	ENST00000358372.4	+	6	2081	c.324G>C	c.(322-324)ctG>ctC	p.L108L	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.L108L	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	108					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTGCCCAACTGAGATCAACAA	0.418000													12	39					0	0	0.00244969	0	0
ITSN1	6453	broad.mit.edu	37	21	35144562	35144562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:35144562G>C	ENST00000381318.3	+	12	1528	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	ITSN1_ENST00000437442.2_Missense_Mutation_p.E414Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E414Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E414Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E414Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E414Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.E377Q|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.E414Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E414Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E414Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E414Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E414Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	414	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						gaagcaactggaaaagcagcg	0.602000													6	1					0	0	0.00116845	0	0
ZNF655	79027	broad.mit.edu	37	7	99158255	99158255	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:99158255G>C	ENST00000424881.1	+	2	293	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	ZNF655_ENST00000454654.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000440391.1_Missense_Mutation_p.E25Q|GS1-259H13.10_ENST00000455905.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000320583.5_Missense_Mutation_p.E25Q|ZNF655_ENST00000449244.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000394163.2_Missense_Mutation_p.E25Q|ZNF655_ENST00000425063.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000493277.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000357864.2_Missense_Mutation_p.E25Q|ZNF655_ENST00000252713.4_Missense_Mutation_p.E25Q|GS1-259H13.10_ENST00000486324.1_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	25					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GACCCAGTCTGAGTGTCTGTC	0.562000													22	49					0	0	0.00047179	0	0
LILRA2	11027	broad.mit.edu	37	19	55086014	55086014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55086014C>G	ENST00000251377.3	+	4	450	c.317C>G	c.(316-318)tCa>tGa	p.S106*	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.S94*|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.S106*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.S106*|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AATCACTCATCAGAGTACAGT	0.592000													15	30					0	0	0.00244969	0	0
GRM1	2911	broad.mit.edu	37	6	146708053	146708053	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:146708053T>A	ENST00000392299.2	+	7	2100	c.1630T>A	c.(1630-1632)Tgc>Agc	p.C544S	GRM1_ENST00000507907.1_Missense_Mutation_p.C544S|GRM1_ENST00000282753.1_Missense_Mutation_p.C544S|GRM1_ENST00000355289.4_Missense_Mutation_p.C544S|GRM1_ENST00000492807.2_Missense_Mutation_p.C544S|GRM1_ENST00000361719.2_Missense_Mutation_p.C544S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	544					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)	AGTGAGCTGCTGCTGGATTTG	0.408000													6	21					0	0	0.00198382	0	0
CMTR1	23070	broad.mit.edu	37	6	37414099	37414099	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:37414099G>T	ENST00000373451.4	+	4	482	c.318G>T	c.(316-318)ttG>ttT	p.L106F		NM_015050.2	NP_055865.1			cap methyltransferase 1	106																	GTGAAGGATTGGGTAAATACA	0.493000													10	161					0.000673444	0.00228877	0.000673444	1	0
EPAS1	2034	broad.mit.edu	37	2	46583934	46583934	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583934G>C	ENST00000263734.3	+	4	951	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	147	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGAACCTGAGTCTCAAAA	0.458000													16	33					0	0	0.000566183	0	0
RTN2	6253	broad.mit.edu	37	19	45998201	45998201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:45998201C>A	ENST00000245923.4	-	3	377	c.142G>T	c.(142-144)Gag>Tag	p.E48*	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Nonsense_Mutation_p.E48*	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	48						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCTCCTCCTCGTCCTCCTCT	0.617000													25	31					4.72057e-08	1.6746e-07	0.000586117	1	0
PIK3CA	5290	broad.mit.edu	37	3	178928074	178928074	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:178928074G>T	ENST00000263967.3	+	8	1509	c.1352G>T	c.(1351-1353)gGa>gTa	p.G451V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	451	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTACCTCATGGATTAGAAGAT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	102					9.65021e-13	3.5175e-12	0.00209593	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151203955	151203955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151203955C>T	ENST00000367321.3	+	5	749	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	MTHFD1L_ENST00000367307.4_Nonsense_Mutation_p.Q159*	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	159	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTTGCCCTTCAGATCTCTGA	0.308000													11	36					0	0	0.000978159	0	0
ADAM17	6868	broad.mit.edu	37	2	9642368	9642368	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:9642368C>T	ENST00000310823.3	-	13	1764	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	528	Disintegrin.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGGGCAGTCTCAAACTGACAG	0.468000													57	123					0	0	0.000781405	0	0
THAP8	199745	broad.mit.edu	37	19	36526495	36526495	+	Splice_Site	SNP	C	C	G	rs74384706	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:36526495C>G	ENST00000292894.1	-	4	1217		c.e4-1		AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Splice_Site	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8								DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGCTGTTGTCTAAGGCAAAG	0.552000													10	38					0	0	0.000308642	0	0
ACD	65057	broad.mit.edu	37	16	67692069	67692069	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67692069C>T	ENST00000219251.8	-	10	1606	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	ACD_ENST00000393919.4_Silent_p.Q428Q	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	428	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGTGCAGCTCTGGAGTGGGG	0.642000													13	29					0	0	0.000566183	0	0
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284000													10	16					0	0	0.000442599	0	0
OR2D3	120775	broad.mit.edu	37	11	6943194	6943194	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6943194T>C	ENST00000317834.3	+	1	990	c.962T>C	c.(961-963)gTt>gCt	p.V321A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAAACTAGTTGGGAGAAAG	0.398000													14	30					0	0	0.00185496	0	0
NR1D1	9572	broad.mit.edu	37	17	38253437	38253437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38253437G>C	ENST00000246672.3	-	2	881	c.251C>G	c.(250-252)tCa>tGa	p.S84*		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	84	Poly-Ser.				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					cgaggaagatgaggaagaagg	0.607000													15	38					0	0	0.00244969	0	0
PCDH8	5100	broad.mit.edu	37	13	53422431	53422431	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:53422431C>T	ENST00000377942.3	-	1	344	c.141G>A	c.(139-141)ggG>ggA	p.G47G	PCDH8_ENST00000338862.4_Silent_p.G47G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	47	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGCCAGGGTCCCGATGACCG	0.602000													24	85					0	0	0.00047179	0	0
HDLBP	3069	broad.mit.edu	37	2	242186257	242186257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:242186257C>G	ENST00000391975.1	-	16	2087	c.1860G>C	c.(1858-1860)gaG>gaC	p.E620D	HDLBP_ENST00000310931.4_Missense_Mutation_p.E620D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E620D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E587D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	620	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AATTGCTATTCTCTGCTGGAA	0.488000													61	144					0	0	0.000781405	0	0
GPR50	9248	broad.mit.edu	37	X	150349467	150349467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349467C>G	ENST00000218316.3	+	2	1481	c.1412C>G	c.(1411-1413)tCc>tGc	p.S471C		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	471	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCTTCCAGCAACCCC	0.552000													138	288					0	0	0.000781405	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041588	86041588	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:86041588C>A	ENST00000414626.2	+	9	2429	c.1540C>A	c.(1540-1542)Caa>Aaa	p.Q514K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q534K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	534					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGGAGAGACAAAAAAGGCA	0.328000													28	84					3.69857e-22	1.37916e-21	0.001512	1	0
UHRF1	29128	broad.mit.edu	37	19	4941939	4941939	+	RNA	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:4941939G>C	ENST00000592666.1	+	0	1645							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAGCGAGGACGAGTGGTGAGT	0.677000													2	4					0	0	6.4e-05	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158074650	158074650	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:158074650G>A	ENST00000359775.5	+	8	1948	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.Q353Q			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	353						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCAGTCACAGAGTGACATGG	0.607000													12	30					0	0	0.00136819	0	0
CHAT	1103	broad.mit.edu	37	10	50854586	50854586	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:50854586C>G	ENST00000395562.2	+	9	1370	c.901C>G	c.(901-903)Cgc>Ggc	p.R301G	CHAT_ENST00000339797.1_Missense_Mutation_p.R265G|CHAT_ENST00000337653.2_Missense_Mutation_p.R383G|CHAT_ENST00000395559.2_Missense_Mutation_p.R265G|CHAT_ENST00000455728.2_Missense_Mutation_p.R265G|CHAT_ENST00000351556.3_Missense_Mutation_p.R265G	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	383					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R383S(1)|p.R383C(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CATGATTGAGCGCTGCATCTG	0.642000													3	93					0	0	6.4e-05	0	0
DNAJA4	55466	broad.mit.edu	37	15	78566699	78566699	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:78566699C>T	ENST00000394855.3	+	5	894	c.666C>T	c.(664-666)cgC>cgT	p.R222R	DNAJA4_ENST00000446172.2_Silent_p.R166R|DNAJA4_ENST00000394852.3_Silent_p.R193R|DNAJA4_ENST00000343789.3_Silent_p.R193R	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	193					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CCAAGGACCGCTGCGAGAGCT	0.597000													18	36					0	0	0.00074312	0	0
ROS1	6098	broad.mit.edu	37	6	117662723	117662723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:117662723G>C	ENST00000368508.3	-	29	4940	c.4742C>G	c.(4741-4743)tCt>tGt	p.S1581C	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1575C	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1581	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGCTTGTGAGATTCTCTCCA	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	31					0	0	0.000157383	0	0
COL10A1	1300	broad.mit.edu	37	6	116442126	116442126	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:116442126C>G	ENST00000327673.4	-	2	1560	c.1153G>C	c.(1153-1155)Gat>Cat	p.D385H	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.D385H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	385	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCATCTGACCCAGGG	0.597000													6	40					0	0	0.00198382	0	0
DLG2	1740	broad.mit.edu	37	11	83641425	83641425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:83641425G>C	ENST00000398309.2	-	10	1597	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	DLG2_ENST00000398301.2_Nonsense_Mutation_p.S415*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.S376*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.S376*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.S343*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.S415*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.S315*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.S481*|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Nonsense_Mutation_p.S481*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.S130*	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	376						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATAGGGAGCTGAGAGGAGGAA	0.512000													19	51					0	0	0.00188189	0	0
GPC5	2262	broad.mit.edu	37	13	92560309	92560309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:92560309C>T	ENST00000377067.3	+	6	1771	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	467						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATGTTGTTCAGGTAAGTCC	0.313000													7	14					0	0	0.000157383	0	0
SRPK3	26576	broad.mit.edu	37	X	153048313	153048313	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153048313G>A	ENST00000489426.1	+	12	3129	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	SRPK3_ENST00000370100.1_Missense_Mutation_p.V146M|SRPK3_ENST00000370101.3_Missense_Mutation_p.V188M|SRPK3_ENST00000370108.3_Missense_Mutation_p.V188M|SRPK3_ENST00000370104.1_Missense_Mutation_p.V188M|SRPK3_ENST00000393786.3_Missense_Mutation_p.V188M			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	188	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCCCTGCGTGAAGAGCAT	0.642000													14	20					0	0	0.00244969	0	0
CCDC134	79879	broad.mit.edu	37	22	42209302	42209302	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:42209302C>T	ENST00000255784.5	+	5	449	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	115						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CGGCCTTCTTCGGCGATGTGG	0.592000													28	83					0	0	0.0024448	0	0
ZNF750	79755	broad.mit.edu	37	17	80788479	80788479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:80788479G>A	ENST00000269394.3	-	3	2544	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Nonsense_Mutation_p.R172*|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	571						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCGTGGTCGACCGGGGAAG	0.622000													23	36					0	0	0.001512	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75555297	75555297	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75555297G>A	ENST00000604729.1	+	15	3206	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	ZSWIM8_ENST00000603114.1_Splice_Site_p.G932D|ZSWIM8_ENST00000398706.2_Splice_Site_p.G970D|ZSWIM8_ENST00000605216.1_Splice_Site_p.G965D|ZSWIM8_ENST00000604524.1_Splice_Site_p.G965D					zinc finger, SWIM-type containing 8																		TTTCTCGCAGGCATGAAGACA	0.488000													42	107					0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189570	50189570	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50189570G>C	ENST00000284509.6	-	23	2757	c.2616C>G	c.(2614-2616)ttC>ttG	p.F872L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F872L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	872					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAGCATAAGAATTTGCACA	0.383000													68	140					0	0	0.000781405	0	0
PIDD	55367	broad.mit.edu	37	11	802583	802583	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:802583G>T	ENST00000347755.5	-	5	1075	c.934C>A	c.(934-936)Cca>Aca	p.P312T	PIDD_ENST00000411829.2_Missense_Mutation_p.P312T	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	312					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGCATTTCTGGAATGAGGGCT	0.587000													4	11					2.56e-06	8.99393e-06	0.00024832	1	0
DMBT1	1755	broad.mit.edu	37	10	124392811	124392811	+	Missense_Mutation	SNP	G	G	C	rs112645522		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:124392811G>C	ENST00000368909.3	+	49	6221	c.6115G>C	c.(6115-6117)Gag>Cag	p.E2039Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.E2029Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1411Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1411Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.E2029Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.E2039Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.E759Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2039	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGGACATTGAGGTGCAAAA	0.512000													25	55					0	0	0.000878237	0	0
RP11-508N22.8	0	broad.mit.edu	37	10	38466894	38466894	+	RNA	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:38466894C>T	ENST00000423162.1	+	0	359				RP11-508N22.9_ENST00000419779.1_lincRNA																							GAGAAAATCTCAAATAGATGG	0.338000													8	17					0	0	0.000157383	0	0
ABCG4	64137	broad.mit.edu	37	11	119029009	119029009	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:119029009C>G	ENST00000307417.3	+	10	1498	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L	ABCG4_ENST00000531739.1_Missense_Mutation_p.F378L|ABCG4_ENST00000449422.2_Missense_Mutation_p.F378L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	378					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATCCTCTTCAAGAGGACCT	0.577000													94	183					0	0	0.000781405	0	0
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373000													3	50					0	0	6.4e-05	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258109	6258109	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:6258109G>C	ENST00000379775.4	+	4	651	c.321G>C	c.(319-321)ttG>ttC	p.L107F	PFKFB3_ENST00000360521.2_Missense_Mutation_p.L107F|PFKFB3_ENST00000536985.1_Missense_Mutation_p.L87F|PFKFB3_ENST00000379782.3_Missense_Mutation_p.L107F|PFKFB3_ENST00000379785.1_Missense_Mutation_p.L107F|PFKFB3_ENST00000379789.4_Missense_Mutation_p.L87F|PFKFB3_ENST00000317350.4_Missense_Mutation_p.L107F|PFKFB3_ENST00000540253.1_Missense_Mutation_p.L121F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	107	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TAGCTGCCTTGAGAGATGTCA	0.592000													35	63					0	0	0.00111076	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033521	95033521	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95033521G>C	ENST00000557004.1	+	3	1285	c.864G>C	c.(862-864)gaG>gaC	p.E288D	SERPINA4_ENST00000555095.1_Missense_Mutation_p.E288D|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E288D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	288					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AAATGAGGGAGATTGAAGAGG	0.468000													15	27					0	0	0.000308642	0	0
ACTG1	71	broad.mit.edu	37	17	79479123	79479123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:79479123C>T	ENST00000575842.1	-	2	595	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ACTG1_ENST00000575087.1_Missense_Mutation_p.E57K|ACTG1_ENST00000573283.1_Missense_Mutation_p.E57K|ACTG1_ENST00000331925.2_Missense_Mutation_p.E57K			P63261	ACTG_HUMAN	actin, gamma 1	57					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCTGGGCCTCGTCGCCCACG	0.642000													50	27					0	0	0.000781405	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957212	33957212	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33957212G>A	ENST00000361328.3	+	6	1507	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E398K	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	452					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAATGGCAGAAGACTGTAA	0.577000													32	55					0	0	0.0024448	0	0
COL5A3	50509	broad.mit.edu	37	19	10116382	10116382	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10116382C>G	ENST00000264828.3	-	4	531	c.446G>C	c.(445-447)cGt>cCt	p.R149P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	149	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACGGCCACACGGTGCCACCT	0.627000													7	23					0	0	0.00198382	0	0
MEP1A	4224	broad.mit.edu	37	6	46801137	46801137	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:46801137G>T	ENST00000230588.4	+	11	1480	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	491	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGTGTGCAGTGGGGAGAACGA	0.468000													7	117					0.00198382	0.00672653	0.00198382	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140890566	140890566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140890566G>C	ENST00000252085.3	+	4	2767	c.2625G>C	c.(2623-2625)ttG>ttC	p.L875F	PCDHGA7_ENST00000518325.1_Missense_Mutation_p.L875F|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.L870F|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.L874F|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.L874F|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.L874F|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.L874F|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.L875F|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.L875F|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.L881F|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.L877F|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.L887F|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.L875F|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.L872F|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.L879F|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.L866F|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.L693F|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.L875F|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.L873F|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.L872F|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.L878F|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.L875F	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGGATTGAGCGCCCGCT	0.612000													37	129					0	0	0.00128727	0	0
ZNF479	90827	broad.mit.edu	37	7	57193755	57193755	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:57193755T>A	ENST00000331162.4	-	4	502	c.232A>T	c.(232-234)Aag>Tag	p.K78*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCATTTCTCTTTATATTCTGG	0.408000													29	90					0	0	0.000692331	0	0
ZNF768	79724	broad.mit.edu	37	16	30535908	30535908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:30535908C>T	ENST00000380412.5	-	2	1728	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	ZNF768_ENST00000562803.1_Missense_Mutation_p.C487Y	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	518					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCCTTTCCGCAGTCATCGCA	0.692000													11	32					0	0	0.00136819	0	0
KEAP1	9817	broad.mit.edu	37	19	10602630	10602630	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602630C>T	ENST00000171111.5	-	3	1495	c.948G>A	c.(946-948)gtG>gtA	p.V316V	KEAP1_ENST00000393623.2_Silent_p.V316V|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGCAGGGCATCACCTGCGTGG	0.637000													10	36					0	0	0.000673444	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475748	27475748	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:27475748G>A	ENST00000356183.4	-	34	5780	c.5765C>T	c.(5764-5766)gCg>gTg	p.A1922V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1922V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1922						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCTGCTCCCGCTGCAGCGGT	0.642000													46	120					0	0	0.000781405	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687786	151687786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151687786C>T	ENST00000325144.4	-	3	555	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AACTGATGATCTGCAATCTGA	0.547000													32	67					0	0	0.001512	0	0
SIAE	54414	broad.mit.edu	37	11	124524628	124524628	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124524628G>A	ENST00000263593.3	-	4	639	c.467C>T	c.(466-468)tCt>tTt	p.S156F	SIAE_ENST00000545756.1_Missense_Mutation_p.S121F			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	156						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GGGAGAGACAGAGAGGATGCG	0.488000													50	114					0	0	0.000781405	0	0
OR13C3	138803	broad.mit.edu	37	9	107298443	107298443	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:107298443C>A	ENST00000374781.2	-	1	694	c.652G>T	c.(652-654)Gcc>Tcc	p.A218S		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAGCACAGGCCAGCTTGAGG	0.383000													26	76					2.44723e-14	8.96498e-14	0.000720815	1	0
LMTK2	22853	broad.mit.edu	37	7	97821646	97821646	+	Silent	SNP	C	C	T	rs141759251		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:97821646C>T	ENST00000297293.5	+	11	2162	c.1869C>T	c.(1867-1869)caC>caT	p.H623H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	623					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGGACTTACACGTGACCAGTG	0.468000													17	48					0	0	0.000566183	0	0
KEAP1	9817	broad.mit.edu	37	19	10602926	10602926	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602926C>G	ENST00000171111.5	-	3	1199	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	KEAP1_ENST00000393623.2_Missense_Mutation_p.E218Q|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E218Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGAACTCCTCTTGCTTGGCC	0.607000													4	16					0	0	0.000602214	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115460	131115460	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131115460G>C	ENST00000300456.4	+	8	1261	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCAGGTGGCTGAGTTCTACGG	0.622000													15	42					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179431057	179431057	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179431057C>A	ENST00000589042.1	-	326	80026	c.79802G>T	c.(79801-79803)gGa>gTa	p.G26601V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24033V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17661V|TTN_ENST00000460472.2_Missense_Mutation_p.G17536V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17728V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24960V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24960	Fibronectin type-III 93.						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)			TACAACAATTCCTTTTCTTAA	0.438000													55	127					2.73381e-35	1.03261e-34	0.000781405	1	0
PRRG2	5639	broad.mit.edu	37	19	50086939	50086939	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:50086939G>A	ENST00000246794.5	+	3	395	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	76	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TTCCTGGGAAGAGGCCAGGGA	0.577000													26	60					0	0	0.000878237	0	0
NPHS1	4868	broad.mit.edu	37	19	36322242	36322242	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:36322242C>T	ENST00000378910.5	-	26	3342	c.3343G>A	c.(3343-3345)Gag>Aag	p.E1115K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1075K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1115					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCTCCTCATATTCGTTC	0.627000													32	52					0	0	0.0024448	0	0
HIF1AN	55662	broad.mit.edu	37	10	102295784	102295784	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:102295784C>T	ENST00000299163.6	+	1	169	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGGAGCCCTCGGCCCCGCCT	0.692000											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	6.4e-05	0	0
RPS18	6222	broad.mit.edu	37	6	33243622	33243622	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:33243622G>A	ENST00000439602.2	+	3	261	c.151G>A	c.(151-153)Gac>Aac	p.D51N	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	51					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AGCAGACATTGACCTCACCAA	0.512000													36	82					0	0	0.00148497	0	0
SCN9A	6335	broad.mit.edu	37	2	167168028	167168028	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:167168028G>A	ENST00000375387.4	-	2	579	c.239C>T	c.(238-240)cCc>cTc	p.P80L	SCN9A_ENST00000409435.1_Missense_Mutation_p.P80L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P80L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P80L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	80						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)	TGCATAGTAGGGGTCCAAGTC	0.448000													38	28					0	0	0.00111076	0	0
DNM1	1759	broad.mit.edu	37	9	130984548	130984548	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:130984548G>C	ENST00000341179.7	+	7	1014	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	DNM1_ENST00000475805.1_Missense_Mutation_p.E308Q|DNM1_ENST00000393594.3_Missense_Mutation_p.E308Q|DNM1_ENST00000372923.3_Missense_Mutation_p.E308Q|DNM1_ENST00000486160.1_Missense_Mutation_p.E308Q	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	308					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACTGTCCATTGAGAAGGAGGT	0.582000													19	66					0	0	0.00152264	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708459	29708459	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:29708459G>A	ENST00000406549.3	+	6	1488	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	673					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CAGTCACCCCGAGGGCTGAGC	0.637000													5	18					0	0	0.000602214	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407393	75407393	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75407393C>T	ENST00000394810.2	-	4	2166	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.E449K	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	673	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCATCTTCTTCAGGACCAGAT	0.592000													44	120					0	0	0.000781405	0	0
ITIH6	347365	broad.mit.edu	37	X	54777522	54777522	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:54777522C>A	ENST00000218436.6	-	12	3673	c.3644G>T	c.(3643-3645)aGg>aTg	p.R1215M		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1215					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ACTGGGATGCCTGTAGCGGTG	0.627000													6	12					3.59834e-05	0.000124617	0.00116845	1	0
PTPN14	5784	broad.mit.edu	37	1	214537946	214537946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:214537946G>C	ENST00000366956.5	-	18	3538	c.3344C>G	c.(3343-3345)cCg>cGg	p.P1115R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1115	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.P1115Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CACGATGGGCGGGTGCCGGTT	0.542000													3	64					0	0	6.4e-05	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101596009	101596009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:101596009G>C	ENST00000310954.6	-	6	1322	c.1036C>G	c.(1036-1038)Caa>Gaa	p.Q346E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	346					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCCAGCTTGAATTTCTGCT	0.219000													8	6					0	0	0.000157383	0	0
ECE2	9718	broad.mit.edu	37	3	184001650	184001650	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:184001650G>C	ENST00000402825.3	+	8	1248	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	ECE2_ENST00000404464.3_Missense_Mutation_p.Q298H|ECE2_ENST00000357474.5_Missense_Mutation_p.Q344H|ECE2_ENST00000359140.4_Missense_Mutation_p.Q269H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	416	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAGGGAGCAGATGCAGCAGG	0.597000													7	27					0	0	0.00198382	0	0
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000532462.1_Silent_p.T586T|PYGL_ENST00000544180.2_Silent_p.T552T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTGTACATCGTGATCACAT	0.512000													32	95					0	0	0.00178596	0	0
GUCY2C	2984	broad.mit.edu	37	12	14840914	14840914	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:14840914C>T	ENST00000261170.3	-	2	437	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	101					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCGAGGCCTTCACAGGTGCTA	0.488000													25	76					0	0	0.00106085	0	0
COMMD9	29099	broad.mit.edu	37	11	36297787	36297787	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:36297787G>C	ENST00000263401.5	-	5	372	c.356C>G	c.(355-357)tCt>tGt	p.S119C	COMMD9_ENST00000452374.2_Missense_Mutation_p.S77C|COMMD9_ENST00000532705.1_Silent_p.L107L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	119										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCGTGGCAGAGAGACTGTGGA	0.557000													12	32					0	0	0.00185496	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646791	122646791	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:122646791G>C	ENST00000195173.4	-	8	999	c.696C>G	c.(694-696)gaC>gaG	p.D232E	SEMA5B_ENST00000357599.3_Missense_Mutation_p.D232E|SEMA5B_ENST00000451055.2_Missense_Mutation_p.D286E			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	232	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGGCGTGGGTCATAGGGGC	0.612000													13	87					0	0	0.00185496	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015064	203015064	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:203015064C>G	ENST00000367240.2	+	8	1481	c.954C>G	c.(952-954)ctC>ctG	p.L318L	PPFIA4_ENST00000414050.2_Silent_p.L25L|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.L318L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	246					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCATGACCTCAATGACAAGC	0.587000													37	103					0	0	0.000814825	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370577	129370577	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129370577G>C	ENST00000370978.4	-	7	683	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	177	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTAGAAGTAGAAGGATGTTT	0.318000													19	52					0	0	0.000958276	0	0
YY1AP1	55249	broad.mit.edu	37	1	155649255	155649255	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:155649255C>T	ENST00000368340.5	-	3	592	c.484G>A	c.(484-486)Gag>Aag	p.E162K	YY1AP1_ENST00000311573.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E162K|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E24K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E24K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E24K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E90K|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E162K|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E24K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E13K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E24K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGCTCCTCCTCTTCTGGGCCA	0.483000													16	52					0	0	0.000308642	0	0
CCR5	1234	broad.mit.edu	37	3	46414985	46414985	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46414985A>G	ENST00000343801.4	+	3	949	c.592A>G	c.(592-594)Ata>Gta	p.I198V	CCR5_ENST00000292303.4_Missense_Mutation_p.I198V|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.I198V	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	198					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GACATTAAAGATAGTCATCTT	0.438000													110	127					0	0	0.000781405	0	0
TLE4	7091	broad.mit.edu	37	9	82335206	82335206	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:82335206G>A	ENST00000376520.4	+	17	2760	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	TLE4_ENST00000265284.6_Silent_p.V587V|TLE4_ENST00000376552.2_Silent_p.V612V|TLE4_ENST00000376544.3_Silent_p.V543V|TLE4_ENST00000376537.4_Silent_p.V644V|TLE4_ENST00000376534.4_Silent_p.V249V	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGACCTTGGTGAGGTAGGTTA	0.522000													12	40					0	0	0.000978159	0	0
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:24729739C>A	ENST00000206765.6	-	4	797	c.674G>T	c.(673-675)cGc>cTc	p.R225L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	225			R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587000													20	64					1.2644e-06	4.46368e-06	0.00152264	1	0
DDI1	414301	broad.mit.edu	37	11	103908506	103908506	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103908506C>G	ENST00000302259.3	+	1	1199	c.956C>G	c.(955-957)tCc>tGc	p.S319C	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	319					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTCTTTCTCCATACTTGAG	0.453000													33	86					0	0	0.00283554	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925874	43925874	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:43925874G>A	ENST00000389420.3	-	3	577	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S193F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	193						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCAGAAAAGAGTTATTTAA	0.328000													14	23					0	0	0.00185496	0	0
UGGT2	55757	broad.mit.edu	37	13	96506627	96506627	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:96506627G>T	ENST00000376747.3	-	35	4181	c.4111C>A	c.(4111-4113)Cgt>Agt	p.R1371S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1371	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCAGAAACGATATCCATCC	0.393000													9	31					0.000442599	0.00151126	0.000442599	1	0
C4orf27	54969	broad.mit.edu	37	4	170674911	170674911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:170674911C>T	ENST00000393381.2	-	2	199	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	42						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TAATGATTTTCTACTTCTTTT	0.368000													21	12					0	0	0.00121646	0	0
SORCS3	22986	broad.mit.edu	37	10	106970924	106970924	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:106970924G>T	ENST00000369701.3	+	17	2518	c.2291G>T	c.(2290-2292)aGc>aTc	p.S764I	SORCS3_ENST00000369699.4_Missense_Mutation_p.S50I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	764						integral to membrane	neuropeptide receptor activity	p.S764N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGGGAGAGCCAGTGTGTC	0.443000													12	22					2.61681e-11	9.5145e-11	0.00244969	1	0
GPR4	2828	broad.mit.edu	37	19	46094676	46094676	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46094676G>C	ENST00000323040.4	-	2	1393	c.449C>G	c.(448-450)tCg>tGg	p.S150W	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	150						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGGGGCGCCGAGTTGGCGCC	0.667000													23	65					0	0	0.00047179	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652749	115652749	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115652749C>G	ENST00000374228.4	-	1	444	c.213G>C	c.(211-213)caG>caC	p.Q71H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	71						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATGGCTCTCTGCTGTTGGT	0.632000													79	99					0	0	0.000781405	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44788618	44788618	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:44788618G>A	ENST00000260327.4	+	6	1295	c.732G>A	c.(730-732)gcG>gcA	p.A244A	CTDSPL2_ENST00000396780.1_Silent_p.A172A|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000558373.1_Silent_p.A172A|CTDSPL2_ENST00000558966.1_Silent_p.A244A	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	244			A -> V (in dbSNP:rs871923).				phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CAGCCCACGCGGAGGCCACCT	0.363000													14	34					0	0	0.000308642	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793471	11793471	+	RNA	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:11793471G>A	ENST00000344893.3	+	0	1673					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						AAACCTTCAGGAACCTGATGT	0.448000													12	43					0	0	0.000978159	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68112663	68112663	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:68112663G>A	ENST00000262215.3	-	38	5742	c.5353C>T	c.(5353-5355)Cta>Tta	p.L1785L	ARFGEF1_ENST00000518230.1_Silent_p.L623L|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.L1239L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1785					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTTAGTTAGAAACAAAAGC	0.433000													15	47					0	0	0.000308642	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800746	26800746	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:26800746G>C	ENST00000376236.4	+	7	1057	c.602G>C	c.(601-603)cGa>cCa	p.R201P		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	201	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCTGGCCCGAGATGTTCTG	0.473000													22	64					0	0	0.00278032	0	0
SYTL3	94120	broad.mit.edu	37	6	159166673	159166673	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166673G>C	ENST00000297239.9	+	11	1211	c.1017G>C	c.(1015-1017)aaG>aaC	p.K339N	SYTL3_ENST00000360448.3_Missense_Mutation_p.K271N|SYTL3_ENST00000367081.3_Missense_Mutation_p.K65N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	339	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAGAAGAAAAGAAGAAAAAGT	0.313000													7	31					0	0	0.000274275	0	0
METTL20	254013	broad.mit.edu	37	12	31819050	31819050	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:31819050G>A	ENST00000357721.3	+	3	559	c.344G>A	c.(343-345)aGa>aAa	p.R115K	METTL20_ENST00000412352.2_Missense_Mutation_p.R115K|METTL20_ENST00000538463.1_Missense_Mutation_p.R115K|METTL20_ENST00000538391.1_Intron|METTL20_ENST00000395763.3_Missense_Mutation_p.R115K	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	115						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						GATGTTGTCAGAGGAAAATCT	0.418000													14	31					0	0	0.00185496	0	0
ZNF175	7728	broad.mit.edu	37	19	52090205	52090205	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:52090205G>A	ENST00000262259.2	+	5	979	c.621G>A	c.(619-621)ctG>ctA	p.L207L	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	207					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTTGAAGCTGAACCTAGAAG	0.443000													18	61					0	0	0.00121646	0	0
CAMK2D	817	broad.mit.edu	37	4	114434999	114434999	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:114434999C>G	ENST00000454265.2	-	11	1748	c.890G>C	c.(889-891)aGa>aCa	p.R297T	CAMK2D_ENST00000418639.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R297T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.R297T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R297T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R297T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R297T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	297	Calmodulin-binding (By similarity).				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TAGTTTTCTTCTAGCATTAAA	0.353000													4	33					0	0	0.00024832	0	0
GFM1	85476	broad.mit.edu	37	3	158363446	158363446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:158363446C>T	ENST00000486715.1	+	2	467	c.110C>T	c.(109-111)tCa>tTa	p.S37L	GFM1_ENST00000478576.1_Missense_Mutation_p.S37L|GFM1_ENST00000264263.5_Missense_Mutation_p.S37L	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	37					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGATGGTCTTCATCAGGGGTG	0.368000													22	65					0	0	0.00229938	0	0
PAK7	57144	broad.mit.edu	37	20	9561234	9561234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:9561234G>C	ENST00000378429.3	-	5	1094	c.548C>G	c.(547-549)tCt>tGt	p.S183C	PAK7_ENST00000378423.1_Missense_Mutation_p.S183C|PAK7_ENST00000353224.5_Missense_Mutation_p.S183C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	183	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTCACCTCAGAATAGTAGGC	0.458000													70	102					0	0	0.000781405	0	0
CD226	10666	broad.mit.edu	37	18	67563226	67563226	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:67563226C>G	ENST00000280200.4	-	4	706	c.438G>C	c.(436-438)aaG>aaC	p.K146N	CD226_ENST00000577287.1_5'UTR|CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Missense_Mutation_p.K146N	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	146	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.K146N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTGTGACATTCTTTCCAGGTT	0.458000													18	32					0	0	0.00188189	0	0
CXorf22	170063	broad.mit.edu	37	X	35974113	35974113	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:35974113G>A	ENST00000297866.5	+	8	1276	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	404										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCACTGACAGGCACAGGACT	0.363000													21	69					0	0	0.00047179	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546212	2546212	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546212C>T	ENST00000567020.1	+	2	203	c.63C>T	c.(61-63)gaC>gaT	p.D21D	TBC1D24_ENST00000434757.2_Silent_p.D21D|TBC1D24_ENST00000293970.5_Silent_p.D21D|RP11-20I23.1_ENST00000564543.1_Silent_p.D21D	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	21					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCATCCAGGACCTGGGGCCCA	0.637000													20	36					0	0	0.00121646	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378699	31378699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378699C>T	ENST00000297142.3	-	2	506	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	62	Poly-Glu.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ctgtcttcctcctcttcttct	0.448000													54	83					0	0	0.000781405	0	0
ACP6	51205	broad.mit.edu	37	1	147124335	147124335	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:147124335G>A	ENST00000369238.6	-	7	1245	c.798C>T	c.(796-798)agC>agT	p.S266S		NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCATGGGGCAGCTTGGGAGGT	0.493000													23	49					0	0	0.000586117	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86548627	86548627	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:86548627C>T	ENST00000450689.2	-	11	1585		c.e11-1		KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACCTCCCAACCTAGAAGTAAT	0.333000													11	15					0	0	0.000978159	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522600	41522600	+	Silent	SNP	C	C	A	rs138937514		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:41522600C>A	ENST00000324071.4	+	9	1351	c.1344C>A	c.(1342-1344)ctC>ctA	p.L448L	CYP2B6_ENST00000593831.1_Silent_p.L212L|CYP2B6_ENST00000330446.5_Silent_p.L248L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	448					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AATTGTTCCTCTTCTTCACCA	0.572000													11	15					4.68919e-08	1.66752e-07	0.000673444	1	0
PPP2R5A	5525	broad.mit.edu	37	1	212530372	212530372	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:212530372C>G	ENST00000261461.2	+	10	1633	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F296L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	353					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AGCCACTTTTCAAGCAGATAT	0.308000													24	46					0	0	0.00047179	0	0
RECK	8434	broad.mit.edu	37	9	36110040	36110040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:36110040G>A	ENST00000377966.3	+	15	2418	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	618						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTGCCTCAGTGAGCACAGTTC	0.478000													34	122					0	0	0.00209593	0	0
XRN1	54464	broad.mit.edu	37	3	142151723	142151723	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:142151723C>G	ENST00000264951.4	-	2	205	c.88G>C	c.(88-90)Gac>Cac	p.D30H	XRN1_ENST00000463916.1_Missense_Mutation_p.D30H|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D30H	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	30					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACAAGTTGTCAAATTCAGGA	0.308000													10	45					0	0	0.000442599	0	0
PDLIM5	10611	broad.mit.edu	37	4	95561504	95561504	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:95561504A>C	ENST00000317968.4	+	9	1322	c.1186A>C	c.(1186-1188)Acc>Ccc	p.T396P	PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.T274P|PDLIM5_ENST00000514743.1_Missense_Mutation_p.T425P|PDLIM5_ENST00000437932.1_Missense_Mutation_p.T287P	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	396					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTGGGACAAACCCAGCCAAG	0.493000													33	42					0	0	0.0024448	0	0
CRB2	286204	broad.mit.edu	37	9	126128232	126128232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:126128232C>T	ENST00000373631.3	+	3	456	c.455C>T	c.(454-456)tCa>tTa	p.S152L	CRB2_ENST00000359999.3_Missense_Mutation_p.S152L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	152	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGTGCGCCTCAGCGCCCTGC	0.706000													11	22					0	0	0.000422831	0	0
MCL1	4170	broad.mit.edu	37	1	150551448	150551448	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:150551448G>A	ENST00000369026.2	-	1	618	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	MCL1_ENST00000307940.3_Missense_Mutation_p.R187W	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	187					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	p.R187W(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCTGCTCCCGAAGGTACCGA	0.647000													24	50					0	0	0.000586117	0	0
MIF4GD	57409	broad.mit.edu	37	17	73263627	73263627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73263627C>G	ENST00000577542.1	-	6	818	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	MIF4GD_ENST00000579119.1_Missense_Mutation_p.E145Q|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E93Q|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E186Q|MIF4GD_ENST00000325102.8_Missense_Mutation_p.E145Q|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E179Q			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	145	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCTCCTCCTCCTTGCTCAAA	0.612000													19	62					0	0	0.00121646	0	0
GPR32	2854	broad.mit.edu	37	19	51274256	51274256	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51274256C>G	ENST00000270590.4	+	1	536	c.399C>G	c.(397-399)gtC>gtG	p.V133V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	133						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCCTCCTTGTCTTCATCTCTG	0.577000													42	106					0	0	0.000680045	0	0
UBE2J1	51465	broad.mit.edu	37	6	90039588	90039588	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90039588C>T	ENST00000435041.2	-	8	1045	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	256						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTGCTGGGCCCGGCGCTGTCG	0.517000													15	40					0	0	0.000308642	0	0
IZUMO4	113177	broad.mit.edu	37	19	2097472	2097472	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:2097472C>T	ENST00000395307.2	+	3	913	c.348C>T	c.(346-348)ctC>ctT	p.L116L	IZUMO4_ENST00000588003.1_3'UTR|IZUMO4_ENST00000395296.1_Silent_p.L116L|IZUMO4_ENST00000395301.3_Silent_p.L116L	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	116						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AGGTGCACCTCATCCAGAACG	0.607000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	42					0	0	0.000422831	0	0
KIF21A	55605	broad.mit.edu	37	12	39716469	39716469	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:39716469C>A	ENST00000395670.3	-	26	4091		c.e26+1		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCAAACTTACATGCTGCCTA	0.358000													31	55					1.88708e-17	7.0188e-17	0.001512	1	0
JARID2	3720	broad.mit.edu	37	6	15496706	15496706	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:15496706C>T	ENST00000341776.2	+	7	1494	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	JARID2_ENST00000397311.3_Missense_Mutation_p.S245L|JARID2_ENST00000541660.1_Missense_Mutation_p.S379L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	417					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACCCAAAGTCATGCACTAAG	0.652000													16	47					0	0	0.000566183	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378712	31378712	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378712C>T	ENST00000297142.3	-	2	493	c.171G>A	c.(169-171)gaG>gaA	p.E57E		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	57	Poly-Glu.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						cttcttctttctcggtttctt	0.448000													58	80					0	0	0.000781405	0	0
MED13	9969	broad.mit.edu	37	17	60111268	60111268	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:60111268A>T	ENST00000397786.2	-	5	770	c.694T>A	c.(694-696)Tta>Ata	p.L232I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	232					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCACCAATTAATTTTTTTGTA	0.383000													17	49					0	0	0.000566183	0	0
ISLR2	57611	broad.mit.edu	37	15	74425108	74425108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:74425108C>T	ENST00000361742.3	+	4	782	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	ISLR2_ENST00000565540.1_Missense_Mutation_p.R5W|ISLR2_ENST00000453268.2_Missense_Mutation_p.R5W|ISLR2_ENST00000565159.1_Missense_Mutation_p.R5W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.R5W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R5W|ISLR2_ENST00000435464.1_Missense_Mutation_p.R5W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	5					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTTCCCCCTTCGGGCCCTGTG	0.622000													12	24					0	0	0.00185496	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67173129	67173129	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67173129C>G	ENST00000312390.5	+	5	453	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.Q142E|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.Q142E	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGCACCGTCAATTCCCTCT	0.647000													16	41					0	0	0.000566183	0	0
ABCA9	10350	broad.mit.edu	37	17	66988371	66988371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:66988371G>A	ENST00000340001.4	-	28	3872	c.3661C>T	c.(3661-3663)Cga>Tga	p.R1221*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1183*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.R1221*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1221					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTAGGCATCGCAGAATGAAA	0.318000													6	20					0	0	0.00116845	0	0
FLRT3	23767	broad.mit.edu	37	20	14307438	14307438	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:14307438C>T	ENST00000378053.3	-	2	971	c.715G>A	c.(715-717)Gct>Act	p.A239T	FLRT3_ENST00000341420.4_Missense_Mutation_p.A239T|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	239					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACTGGTGCAGCAGTCAGGGAA	0.438000													18	36					0	0	0.000958276	0	0
DCLK2	166614	broad.mit.edu	37	4	151153948	151153948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:151153948G>A	ENST00000296550.7	+	10	2288	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	DCLK2_ENST00000506325.1_Missense_Mutation_p.V511M|DCLK2_ENST00000302176.8_Missense_Mutation_p.V529M	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	512	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTCAGCATCGTGCACAGAGA	0.458000													93	67					0	0	0.000781405	0	0
KIF23	9493	broad.mit.edu	37	15	69728485	69728485	+	Missense_Mutation	SNP	G	G	A	rs149564859		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:69728485G>A	ENST00000260363.4	+	13	1398	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	KIF23_ENST00000352331.4_Missense_Mutation_p.M427I|KIF23_ENST00000559279.1_Missense_Mutation_p.M427I|KIF23_ENST00000537891.1_Missense_Mutation_p.M244I|KIF23_ENST00000558585.1_Missense_Mutation_p.M244I|KIF23_ENST00000395392.2_Missense_Mutation_p.M427I	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	427					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGCAAGTCATGAGATTTGCGG	0.368000													15	44					0	0	0.000566183	0	0
PIPSL	266971	broad.mit.edu	37	10	95720971	95720971	+	RNA	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:95720971G>T	ENST00000480546.1	-	0	326					NR_002319.2																						TCTCCACCATGTGGAAATCTT	0.507000													16	36					2.32078e-09	8.35482e-09	0.000308642	1	0
PFKL	5211	broad.mit.edu	37	21	45726580	45726580	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:45726580C>G	ENST00000403390.1	+	3	243	c.243C>G	c.(241-243)gtC>gtG	p.V81V	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.V34V			P17858	K6PL_HUMAN	phosphofructokinase, liver	34			G -> A.		fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACGCTGCTGTCCGGGCTGTGA	0.602000													7	8					0	0	0.000157383	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685766	125685766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:125685766C>A	ENST00000371126.1	-	1	1068	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCCCAGTTCCTGGTTCTTG	0.637000													11	30					0.00010058	0.00034668	0.00136819	1	0
PTPRC	5788	broad.mit.edu	37	1	198668734	198668734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:198668734G>A	ENST00000367376.2	+	5	505	c.334G>A	c.(334-336)Gac>Aac	p.D112N	PTPRC_ENST00000442510.2_Missense_Mutation_p.D114N|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.D112N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	112					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.D112Y(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACGCACGCAGACTCGCAGAC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	97					0	0	0.00128727	0	0
ABCA12	26154	broad.mit.edu	37	2	215875186	215875186	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:215875186A>G	ENST00000272895.7	-	18	2560	c.2341T>C	c.(2341-2343)Tgc>Cgc	p.C781R	ABCA12_ENST00000389661.4_Missense_Mutation_p.C463R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	781					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGGAGAAGCAAAATGGTGCT	0.368000													14	11					0	0	0.00244969	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131260	151131260	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:151131260C>G	ENST00000368910.3	+	2	213	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	29					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCTCATCTCTTCATAGATG	0.567000													24	34					0	0	0.000720815	0	0
HAO1	54363	broad.mit.edu	37	20	7866353	7866353	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:7866353C>G	ENST00000378789.3	-	6	1023	c.972G>C	c.(970-972)caG>caC	p.Q324H		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	324	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCAGTTACCTGGAAAGCTA	0.428000													77	98					0	0	0.000781405	0	0
FAM83H	286077	broad.mit.edu	37	8	144808670	144808670	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144808670G>A	ENST00000388913.3	-	5	3086	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	987					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCACTGGGAAGCCACCCT	0.697000													4	20					0	0	0.000602214	0	0
ANGEL1	23357	broad.mit.edu	37	14	77273020	77273020	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:77273020G>A	ENST00000251089.2	-	5	1231	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	373										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTTCTGGGACGAGTGGTTGCA	0.577000													62	72					0	0	0.000781405	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453736	57453736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453736C>T	ENST00000300128.4	-	9	1284	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	TMEM194A_ENST00000379391.3_Missense_Mutation_p.E348K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	421						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GATGCTTCCTCATAGATTTCA	0.463000													13	33					0	0	0.00136819	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450981	117450981	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117450981G>C	ENST00000160373.3	-	3	343	c.252C>G	c.(250-252)ttC>ttG	p.F84L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	84										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGTGCCAGGAACGGGTCAT	0.458000													19	57					0	0	0.000958276	0	0
CLMN	79789	broad.mit.edu	37	14	95669499	95669499	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95669499G>A	ENST00000298912.4	-	9	2300	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	729						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATAGTGTGGGAAATAGAAGA	0.522000													18	42					0	0	0.00074312	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			8	30					0	0	0.000442599	0	0
TTLL10	254173	broad.mit.edu	37	1	1120466	1120466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:1120466G>C	ENST00000379290.1	+	13	1551	c.1378G>C	c.(1378-1380)Gac>Cac	p.D460H	TTLL10_ENST00000379289.1_Missense_Mutation_p.D460H|TTLL10_ENST00000379288.3_Missense_Mutation_p.D387H			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	460	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTCGCCAAGGACTGGGTCTT	0.632000													10	20					0	0	0.000978159	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874363	65874363	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:65874363C>G	ENST00000395325.3	+	17	2517	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	DNAJC6_ENST00000371069.4_Missense_Mutation_p.S844C|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S774C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	787					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GACCTACTCTCTGGTCAAGGT	0.368000													21	56					0	0	0.00188189	0	0
ARTN	9048	broad.mit.edu	37	1	44402240	44402240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:44402240C>T	ENST00000414809.3	+	5	1272	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	ARTN_ENST00000438616.3_Missense_Mutation_p.R173C|ARTN_ENST00000372354.3_Missense_Mutation_p.R156C|ARTN_ENST00000372359.5_Missense_Mutation_p.R156C|ARTN_ENST00000498139.2_Missense_Mutation_p.R164C	NM_057090.2	NP_476431.2	Q5T4W7	ARTN_HUMAN	artemin	156					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCCTGCCGCCGCGCGCGCTC	0.781000													4	4					0	0	0.00024832	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85438530	85438530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:85438530G>A	ENST00000393217.2	+	4	340	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	93										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATAATCATATGCATTTAAGAA	0.259000													9	30					0	0	0.000673444	0	0
IGHA2	3494	broad.mit.edu	37	14	106054028	106054028	+	RNA	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:106054028C>T	ENST00000390539.2	-	0	490																											ACAGAGGTCACGCTCAGGTGG	0.627000													9	18					0	0	0.000442599	0	0
SMR3B	10879	broad.mit.edu	37	4	71255498	71255498	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:71255498G>C	ENST00000304915.3	+	3	322	c.173G>C	c.(172-174)aGa>aCa	p.R58T	SMR3B_ENST00000504825.1_Missense_Mutation_p.R58T	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B									p.R58K(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCT	0.602000													33	47					0	0	0.000692331	0	0
CHD5	26038	broad.mit.edu	37	1	6206323	6206323	+	Missense_Mutation	SNP	C	C	T	rs141210110		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:6206323C>T	ENST00000262450.3	-	11	1850	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	584					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GATGCCATAGCGGTAGAAGCG	0.607000													22	66					0	0	0.000586117	0	0
ROBO4	54538	broad.mit.edu	37	11	124766183	124766183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124766183G>A	ENST00000306534.3	-	4	1075	c.590C>T	c.(589-591)gCa>gTa	p.A197V	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.A52V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	197	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTCTTCTCTGCTCTTGCCAT	0.617000													21	52					0	0	0.00229938	0	0
CCDC138	165055	broad.mit.edu	37	2	109411023	109411023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:109411023C>G	ENST00000295124.4	+	5	482	c.422C>G	c.(421-423)tCg>tGg	p.S141W	CCDC138_ENST00000412964.2_Missense_Mutation_p.S141W|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	141										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ACGACCTCATCGAGACCTCGG	0.383000													32	58					0	0	0.000814825	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153445	133153445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:133153445A>C	ENST00000388996.4	-	10	1816	c.1396T>G	c.(1396-1398)Tta>Gta	p.L466V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L466V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L346V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	466					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTATTGTTTAAGCCAACAGGC	0.443000													30	78					0	0	0.00283554	0	0
GABBR2	9568	broad.mit.edu	37	9	101125057	101125057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:101125057G>C	ENST00000259455.2	-	13	2292	c.1833C>G	c.(1831-1833)atC>atG	p.I611M		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	611					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCAGATCAGGATACACAGGT	0.592000													8	34					0	0	0.000157383	0	0
CCR3	1232	broad.mit.edu	37	3	46306696	46306696	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46306696A>G	ENST00000357422.2	+	4	590	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	CCR3_ENST00000395942.2_Missense_Mutation_p.Y16C|CCR3_ENST00000545097.1_Missense_Mutation_p.Y37C|CCR3_ENST00000395940.2_Missense_Mutation_p.Y16C|CCR3_ENST00000541018.1_Missense_Mutation_p.Y16C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	16					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCACATCCTACTATGATGAC	0.478000													19	21					0	0	0.00229938	0	0
RRAGA	10670	broad.mit.edu	37	9	19050318	19050318	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:19050318G>C	ENST00000380527.1	+	1	947	c.661G>C	c.(661-663)Gag>Cag	p.E221Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	221					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCAGTGCAAAGAGCAGCGCGA	0.478000													36	117					0	0	0.00148497	0	0
TET2	54790	broad.mit.edu	37	4	106157172	106157172	+	Silent	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:106157172T>G	ENST00000513237.1	+	3	2933	c.2136T>G	c.(2134-2136)acT>acG	p.T712T	TET2_ENST00000305737.2_Silent_p.T691T|TET2_ENST00000540549.1_Silent_p.T691T|TET2_ENST00000413648.2_Silent_p.T691T|TET2_ENST00000394764.1_Silent_p.T691T|TET2_ENST00000545826.1_Silent_p.T691T|TET2_ENST00000380013.4_Silent_p.T691T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	691	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	p.F683fs*17(1)		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)		ATTCCCAAACTGAAAAACTTA	0.418000			"""Mis N, F"""		MDS								13	69					0	0	0.00244969	0	0
ATP2B3	492	broad.mit.edu	37	X	152818716	152818716	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:152818716G>T	ENST00000370186.1	+	11	2331	c.2005G>T	c.(2005-2007)Gtg>Ttg	p.V669L	ATP2B3_ENST00000393842.1_Missense_Mutation_p.V669L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V683L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V669L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V683L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V683L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	683					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGACCCTGTGCGGCCCGA	0.632000													13	27					0.000219431	0.000751012	0.00244969	1	0
SPANXN5	494197	broad.mit.edu	37	X	52825556	52825556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:52825556G>C	ENST00000375511.3	-	2	943	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	64										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CAGTTGATTTGAATGTATTTT	0.423000													37	95					0	0	0.00128727	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33059171	33059171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33059171G>C	ENST00000373510.4	+	3	868	c.639G>C	c.(637-639)ttG>ttC	p.L213F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.L213F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CCAAACATTTGAGATTGTCAC	0.403000													12	38					0	0	0.000978159	0	0
UBE3B	89910	broad.mit.edu	37	12	109928922	109928922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109928922C>G	ENST00000342494.3	+	9	1298	c.703C>G	c.(703-705)Cta>Gta	p.L235V	UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L235V|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.L235V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	235					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGCTTTTTCTCTAGCGTTACG	0.428000													19	35					0	0	0.000720815	0	0
ACAN	176	broad.mit.edu	37	15	89402347	89402347	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:89402347G>A	ENST00000439576.2	+	12	6905	c.6531G>A	c.(6529-6531)gtG>gtA	p.V2177V	ACAN_ENST00000352105.7_Silent_p.V2177V|ACAN_ENST00000561243.1_Silent_p.V2177V|ACAN_ENST00000559004.1_Silent_p.V2177V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2177					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGATGTGGGGACAGAGG	0.607000													19	60					0	0	0.000958276	0	0
PTENP1	11191	broad.mit.edu	37	9	33676789	33676789	+	RNA	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:33676789C>G	ENST00000532280.1	-	0	708					NR_023917.1																						CTCTGGACCGCAGCCGGGTAA	0.667000													3	11					0	0	6.4e-05	0	0
RBM15	64783	broad.mit.edu	37	1	110882243	110882243	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:110882243G>A	ENST00000369784.3	+	1	1116	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RBM15_ENST00000602849.1_Silent_p.K72K|RBM15_ENST00000487146.2_Silent_p.K72K	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	72	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCGGAGCAAGAAGTTAGGGG	0.632000			T	MKL1	acute megakaryocytic leukemia								17	26					0	0	0.00074312	0	0
CTAG2	30848	broad.mit.edu	37	X	153880854	153880854	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153880854C>T	ENST00000247306.4	-	2	384	c.321G>A	c.(319-321)agG>agA	p.R107R	CTAG2_ENST00000369585.3_Silent_p.R107R	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	107						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACAGGATCCTGCGGACCA	0.622000													18	35					0	0	0.00152264	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954391	35954391	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:35954391G>A	ENST00000274278.3	-	7	1842	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	495						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCAGAGTGAGCCCCAGCA	0.587000													5	27					0	0	0.00116845	0	0
UBE3B	89910	broad.mit.edu	37	12	109961811	109961811	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109961811C>G	ENST00000342494.3	+	22	2988	c.2393C>G	c.(2392-2394)tCc>tGc	p.S798C	UBE3B_ENST00000434735.2_Missense_Mutation_p.S798C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	798	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCATTTGCATCCTTCTTCCTG	0.532000													28	101					0	0	0.001512	0	0
TMC6	11322	broad.mit.edu	37	17	76113638	76113638	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:76113638C>T	ENST00000590602.1	-	17	2268	c.2109G>A	c.(2107-2109)gcG>gcA	p.A703A	TMC6_ENST00000392467.3_Silent_p.A703A|TMC6_ENST00000591436.1_Silent_p.A282A|TMC6_ENST00000322933.4_Silent_p.A282A|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Silent_p.A703A|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	703						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGGGCCTGCCGCCTCCAGGT	0.667000													4	9					0	0	0.000602214	0	0
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537000													4	63					0	0	0.000602214	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065242	62065242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:62065242G>C	ENST00000354587.3	-	8	1214	c.1038C>G	c.(1036-1038)ttC>ttG	p.F346L	KCNQ2_ENST00000357249.2_Missense_Mutation_p.F346L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.F346L|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000344425.5_Missense_Mutation_p.F346L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F346L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F346L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.F346L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F346L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	346					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGTGGCGTAGAATCTCCAGG	0.692000													10	51					0	0	0.000442599	0	0
TYR	7299	broad.mit.edu	37	11	89028453	89028453	+	Silent	SNP	G	G	A	rs138750983	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:89028453G>A	ENST00000263321.5	+	5	2011	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	503					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCGTCACAAGAGAAAGCAGC	0.532000													8	26					0	0	0.000274275	0	0
OTOP3	347741	broad.mit.edu	37	17	72937560	72937560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:72937560G>A	ENST00000328801.4	+	2	146	c.146G>A	c.(145-147)cGa>cAa	p.R49Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	49						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGGAGAACCGAGTGGATGTG	0.647000													4	14					0	0	0.000602214	0	0
MDN1	23195	broad.mit.edu	37	6	90394614	90394614	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90394614G>A	ENST00000369393.3	-	71	11925	c.11810C>T	c.(11809-11811)cCc>cTc	p.P3937L	MDN1_ENST00000428876.1_Missense_Mutation_p.P3937L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3937					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTTCTAGGGGGGAACGAAG	0.388000													13	30					0	0	0.00244969	0	0
TEX10	54881	broad.mit.edu	37	9	103092428	103092428	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:103092428G>C	ENST00000374902.4	-	6	1450	c.1274C>G	c.(1273-1275)tCc>tGc	p.S425C	TEX10_ENST00000537512.1_Missense_Mutation_p.S360C|TEX10_ENST00000535814.1_Missense_Mutation_p.S428C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	425						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGTTATTGGAGAGAACTGT	0.373000													38	95					0	0	0.0025221	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871349	57871349	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57871349C>G	ENST00000393797.2	-	7	1054	c.862G>C	c.(862-864)Gat>Cat	p.D288H	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D296H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D33H|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.D217H|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D217H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D217H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCCAGGCATCCAGCCTCTGC	0.642000													20	52					0	0	0.00188189	0	0
ANK3	288	broad.mit.edu	37	10	61959942	61959942	+	Missense_Mutation	SNP	G	G	T	rs138255802		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61959942G>T	ENST00000280772.2	-	13	1627	c.1436C>A	c.(1435-1437)gCt>gAt	p.A479D	ANK3_ENST00000373827.2_Missense_Mutation_p.A473D|ANK3_ENST00000503366.1_Missense_Mutation_p.A462D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACAACTTCAGCTTGGCCGGA	0.463000													16	40					8.00594e-06	2.80593e-05	0.000958276	1	0
MTMR8	55613	broad.mit.edu	37	X	63488786	63488786	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63488786C>G	ENST00000374852.3	-	14	1813	c.1746G>C	c.(1744-1746)ctG>ctC	p.L582L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	582						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CATTCTCCATCAGGGTATTCA	0.483000													22	28					0	0	0.00278032	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75478928	75478928	+	RNA	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75478928C>T	ENST00000399449.3	-	0	1090				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCTTGATTATCTATAGCCTCT	0.383000													9	17					0	0	0.000442599	0	0
OBP2B	29989	broad.mit.edu	37	9	136081314	136081314	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:136081314G>T	ENST00000372034.3	-	6	545	c.504C>A	c.(502-504)ccC>ccA	p.P168P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	168					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.P168P(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCTAGTGTTCGGGAACGCAGC	0.622000													7	178					0.000673444	0.00228877	0.000673444	1	0
OR4M1	441670	broad.mit.edu	37	14	20248955	20248955	+	Silent	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:20248955A>T	ENST00000315957.4	+	1	555	c.474A>T	c.(472-474)atA>atT	p.I158I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTATAATACAGGTGGCTC	0.502000													38	292					0	0	0.00148497	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892254	36892254	+	Splice_Site	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:36892254T>G	ENST00000397224.4	-	7	1477	c.1384A>C	c.(1384-1386)Aat>Cat	p.N462H	FOXRED2_ENST00000216187.6_Splice_Site_p.N462H|FOXRED2_ENST00000366463.3_Splice_Site_p.N14H|FOXRED2_ENST00000397223.4_Splice_Site_p.N462H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	462					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCGTGGAATTCCTGGGAGAA	0.617000													14	49					0	0	0.00244969	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090045	115090045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:115090045C>T	ENST00000361283.1	+	3	1037	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	243	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CCTTCAGCCTCATCTCCAGAG	0.552000													40	67					0	0	0.00128727	0	0
LAMA3	3909	broad.mit.edu	37	18	21508633	21508633	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:21508633C>T	ENST00000313654.9	+	64	8581	c.8340C>T	c.(8338-8340)ttC>ttT	p.F2780F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.F2724F|LAMA3_ENST00000269217.6_Silent_p.F1171F|LAMA3_ENST00000587184.1_Silent_p.F1115F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2780	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGAGTTTCACTGATTTGG	0.423000													50	72					0	0	0.000781405	0	0
FBXL17	64839	broad.mit.edu	37	5	107216802	107216802	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:107216802C>T	ENST00000542267.1	-	8	2307	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G236E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G236E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	634										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAGGGTGGCTCCTTGGTCTGT	0.453000													30	103					0	0	0.00178596	0	0
HDC	3067	broad.mit.edu	37	15	50535004	50535004	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50535004G>A	ENST00000267845.3	-	12	1844	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	HDC_ENST00000543581.1_Missense_Mutation_p.S448F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	481					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTGGGTTGGGAAGTACAGTG	0.552000													13	31					0	0	0.00136819	0	0
FER	2241	broad.mit.edu	37	5	108516519	108516519	+	Missense_Mutation	SNP	G	G	A	rs151332661		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:108516519G>A	ENST00000281092.4	+	18	2504	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H	FER_ENST00000438717.2_Missense_Mutation_p.R532H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	707	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GGAATGTCTCGTCAAGAGGAT	0.423000													23	62					0	0	0.00229938	0	0
FANCM	57697	broad.mit.edu	37	14	45642298	45642298	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:45642298C>G	ENST00000267430.5	+	13	2286	c.2201C>G	c.(2200-2202)tCt>tGt	p.S734C	FANCM_ENST00000542564.2_Missense_Mutation_p.S708C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	734					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTCTCTCTCTCTGAATGGAGA	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	42					0	0	0.00229938	0	0
PPM1F	9647	broad.mit.edu	37	22	22280017	22280017	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:22280017C>T	ENST00000407142.1	-	5	1466	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PPM1F_ENST00000263212.5_Missense_Mutation_p.E304K|PPM1F_ENST00000397495.4_Missense_Mutation_p.E304K|PPM1F_ENST00000538191.1_Missense_Mutation_p.E200K			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	304					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCAATGCTTCAATGCGCGCC	0.622000													14	22					0	0	0.000566183	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90192954	90192954	+	RNA	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:90192954A>C	ENST00000390275.2	+	0	187																											CAGCATGGACATGAGGGTCCC	0.547000													22	60					0	0	0.001512	0	0
PCLO	27445	broad.mit.edu	37	7	82390090	82390090	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:82390090C>G	ENST00000333891.9	-	24	15490	c.15153G>C	c.(15151-15153)gtG>gtC	p.V5051V		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATATATTTTCACATATAAAT	0.284000													4	9					0	0	0.00024832	0	0
NPAS4	266743	broad.mit.edu	37	11	66192075	66192075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66192075G>A	ENST00000311034.2	+	7	1890	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	572					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTTTCTCTATGAGAAGTTGCC	0.602000													35	115					0	0	0.00111076	0	0
AMER1	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63412575C>T	ENST00000330258.3	-	2	864	c.592G>A	c.(592-594)Gag>Aag	p.E198K	AMER1_ENST00000403336.1_Missense_Mutation_p.E198K|AMER1_ENST00000374869.3_Missense_Mutation_p.E198K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTGACCCTCTCAGGCCCCTTG	0.577000													18	71					0	0	0.00074312	0	0
ANK3	288	broad.mit.edu	37	10	61829613	61829613	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61829613C>G	ENST00000280772.2	-	37	11217	c.11026G>C	c.(11026-11028)Gag>Cag	p.E3676Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAGGTGTCTCTACATTTCTC	0.552000													15	52					0	0	0.00244969	0	0
AP3M1	26985	broad.mit.edu	37	10	75886013	75886013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75886013C>G	ENST00000355264.4	-	7	1215	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	AP3M1_ENST00000372745.1_Missense_Mutation_p.G302R	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	302	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ATAGTTTTCCCCATATTCTGC	0.403000													21	73					0	0	0.00188189	0	0
GPR75	10936	broad.mit.edu	37	2	54080793	54080793	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:54080793G>A	ENST00000394705.2	-	2	1371	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	367						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCCTGACTTGAAAAATATAA	0.428000													14	57					0	0	0.00185496	0	0
KMT2C	58508	broad.mit.edu	37	7	151846037	151846037	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:151846037C>T	ENST00000355193.2	-	53	13364	c.13146G>A	c.(13144-13146)ctG>ctA	p.L4382L	KMT2C_ENST00000262189.6_Silent_p.L4325L					lysine (K)-specific methyltransferase 2C									p.L4382L(1)|p.L4325L(1)									CTGTCACCTTCAGCTCATCTG	0.542000													5	25					0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13916475	13916475	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:13916475G>C	ENST00000265104.4	-	9	1283	c.1179C>G	c.(1177-1179)atC>atG	p.I393M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAGATGTGATCTTCTCAG	0.303000									Kartagener syndrome				7	36					0	0	0.000157383	0	0
ZNF664	144348	broad.mit.edu	37	12	124496822	124496822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:124496822C>T	ENST00000539644.1	+	6	1961	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ZNF664_ENST00000392404.3_Missense_Mutation_p.S44L|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.S44L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S44L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTTCATATATCAGAACTTCAT	0.353000													22	86					0	0	0.00278032	0	0
DCHS2	54798	broad.mit.edu	37	4	155226351	155226351	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:155226351G>A	ENST00000357232.4	-	16	3927	c.3928C>T	c.(3928-3930)Cca>Tca	p.P1310S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P1310S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAGCACCTGGCATGATTTCA	0.343000													17	15					0	0	0.00074312	0	0
CHD4	1108	broad.mit.edu	37	12	6690875	6690875	+	Missense_Mutation	SNP	G	G	C	rs143753094		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6690875G>C	ENST00000309577.6	-	30	4868	c.4705C>G	c.(4705-4707)Cct>Gct	p.P1569A	CHD4_ENST00000544040.1_Missense_Mutation_p.P1534A|CHD4_ENST00000544484.1_Missense_Mutation_p.P1566A|CHD4_ENST00000357008.2_Missense_Mutation_p.P1541A|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1541					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGGGTGTAGGAGTTTTTGGG	0.547000													19	66					0	0	0.00121646	0	0
GANAB	23193	broad.mit.edu	37	11	62396347	62396347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:62396347G>A	ENST00000346178.4	-	18	2155	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q595*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.Q692*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q600*	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	692					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCATTGTGCTGAGATGGTAAC	0.547000													40	101					0	0	0.00148497	0	0
ADNP2	22850	broad.mit.edu	37	18	77894028	77894028	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:77894028G>A	ENST00000262198.4	+	4	1187	c.732G>A	c.(730-732)gaG>gaA	p.E244E		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	244					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGATTTGGAGAATAAGCTTA	0.423000													14	40					0	0	0.00185496	0	0
TRIM21	6737	broad.mit.edu	37	11	4411526	4411526	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:4411526T>A	ENST00000254436.7	-	2	226	c.114A>T	c.(112-114)gaA>gaT	p.E38D	TRIM21_ENST00000543625.1_Missense_Mutation_p.E38D	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	38					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAGAGATGCATTCCTGGCAGA	0.587000													37	66					0	0	0.00128727	0	0
IRF1	3659	broad.mit.edu	37	5	131819667	131819667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:131819667G>C	ENST00000245414.4	-	10	1212	c.954C>G	c.(952-954)atC>atG	p.I318M	IRF1_ENST00000405885.2_Missense_Mutation_p.I318M	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	318					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAATGGCCTGGATGGAGGGCA	0.587000													10	25					0	0	0.000673444	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:50339780C>G	ENST00000376020.2	-	9	4422	c.4397G>C	c.(4396-4398)cGa>cCa	p.R1466P	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1350P|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1466P	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1466	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGCTCTCGCTGTTCAAT	0.502000													26	33					0	0	0.000878237	0	0
OGT	8473	broad.mit.edu	37	X	70787373	70787373	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70787373T>C	ENST00000373719.3	+	20	2830	c.2613T>C	c.(2611-2613)agT>agC	p.S871S	OGT_ENST00000373701.3_Silent_p.S861S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	871					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCCCAATAGTGTACTCTGGC	0.398000													19	43					0	0	0.00152264	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755384	140755384	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140755384G>C	ENST00000517434.1	+	1	1734	c.1734G>C	c.(1732-1734)gcG>gcC	p.A578A	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657000													46	108					0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63447854	63447854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:63447854G>C	ENST00000322893.7	-	6	946	c.678C>G	c.(676-678)ttC>ttG	p.F226L	KCNH5_ENST00000420622.2_Missense_Mutation_p.F226L|KCNH5_ENST00000394968.1_Missense_Mutation_p.F168L|KCNH5_ENST00000394964.2_Missense_Mutation_p.F168L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	226					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGCGGTGTAGAAGGTAAGAA	0.388000													26	29					0	0	0.00127121	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281697	145281697	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:145281697C>T	ENST00000369340.3	+	5	1071	c.627C>T	c.(625-627)tgC>tgT	p.C209C	NOTCH2NL_ENST00000362074.6_Silent_p.C209C|NOTCH2NL_ENST00000344859.3_Silent_p.C209C|RP11-458D21.5_ENST00000468030.1_Silent_p.C209C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	209	EGF-like 6.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGCAACTGCCTTCCAGGTA	0.542000													9	127					0	0	0.000442599	0	0
PCDH19	57526	broad.mit.edu	37	X	99663576	99663576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:99663576G>A	ENST00000373034.4	-	1	1695	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PCDH19_ENST00000255531.7_Missense_Mutation_p.P7L|PCDH19_ENST00000420881.2_Missense_Mutation_p.P7L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	7					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGCAGCACCGGCAGCAGGAG	0.682000													3	5					0	0	0.00024832	0	0
ZMYM3	9203	broad.mit.edu	37	X	70471043	70471043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471043C>G	ENST00000373998.1	-	4	1460	c.763G>C	c.(763-765)Gat>Cat	p.D255H	ZMYM3_ENST00000314425.5_Missense_Mutation_p.D255H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.D255H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D255H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D257H|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.D257H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	255					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCAGTGGAATCTACAACCTCA	0.537000													14	61					0	0	0.00074312	0	0
KCNMA1	3778	broad.mit.edu	37	10	78649235	78649235	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:78649235G>A	ENST00000286627.5	-	26	4213	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L	KCNMA1_ENST00000372443.1_Silent_p.L1114L|KCNMA1_ENST00000406533.3_Silent_p.L1149L|KCNMA1_ENST00000354353.5_Silent_p.L1148L|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.L1145L|KCNMA1_ENST00000286628.8_Silent_p.L1145L|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.L1128L|KCNMA1_ENST00000372440.1_Silent_p.L1087L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1145					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGGGGTGCTGAGGTGAGCAT	0.443000													18	54					0	0	0.00121646	0	0
TNS4	84951	broad.mit.edu	37	17	38645050	38645050	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38645050G>C	ENST00000254051.6	-	3	769	c.611C>G	c.(610-612)tCt>tGt	p.S204C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	204	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGTTCCCAGAGAAGATGAG	0.647000													22	44					0	0	0.00278032	0	0
SERPINH1	871	broad.mit.edu	37	11	75277666	75277666	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:75277666C>T	ENST00000524558.1	+	2	1707	c.272C>T	c.(271-273)tCg>tTg	p.S91L	SERPINH1_ENST00000530284.1_Missense_Mutation_p.S91L|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S91L|SERPINH1_ENST00000358171.3_Missense_Mutation_p.S91L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	91					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ACCACGGCGTCGCAGGCCAAG	0.701000													6	19					0	0	0.00116845	0	0
MEGF9	1955	broad.mit.edu	37	9	123476225	123476225	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:123476225G>C	ENST00000373930.3	-	1	523	c.412C>G	c.(412-414)Cag>Gag	p.Q138E	MEGF9_ENST00000426959.1_Missense_Mutation_p.Q130E	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	138	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GTCGGCGCCTGAGAGGTGGTC	0.721000													18	30					0	0	0.00121646	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607503	55607503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55607503G>A	ENST00000263433.3	-	8	1084	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	PPP1R12C_ENST00000435544.2_Nonsense_Mutation_p.Q283*|PPP1R12C_ENST00000376393.2_Nonsense_Mutation_p.Q357*	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	357						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GACAAGTCCTGGAGGGAAATC	0.672000													19	40					0	0	0.00121646	0	0
PRG4	10216	broad.mit.edu	37	1	186280724	186280724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:186280724G>C	ENST00000445192.2	+	10	3834	c.3789G>C	c.(3787-3789)aaG>aaC	p.K1263N	PRG4_ENST00000367486.3_Missense_Mutation_p.K1220N|PRG4_ENST00000367484.3_Missense_Mutation_p.K792N|PRG4_ENST00000367485.4_Missense_Mutation_p.K1170N|PRG4_ENST00000367483.4_Missense_Mutation_p.K1222N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1263					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATTTTTTCAAGAGAGGTATGT	0.313000													23	44					0	0	0.000586117	0	0
KLK6	5653	broad.mit.edu	37	19	51470546	51470546	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51470546C>T	ENST00000376851.3	-	3	515	c.76G>A	c.(76-78)Gga>Aga	p.G26R	KLK6_ENST00000376853.4_Missense_Mutation_p.G26R|KLK6_ENST00000310157.2_Missense_Mutation_p.G26R|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.G26R	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	26	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TCGCAGGGTCCGCCATGCACC	0.572000													34	16					0	0	0.00058488	0	0
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M|SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612000													5	83					0	0	0.00116845	0	0
CAMK1G	57172	broad.mit.edu	37	1	209781271	209781271	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:209781271T>C	ENST00000009105.1	+	7	873	c.628T>C	c.(628-630)Tac>Cac	p.Y210H	CAMK1G_ENST00000361322.2_Missense_Mutation_p.Y210H|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	210	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CGTCATCACCTACATATTGTG	0.582000													3	90					0	0	6.4e-05	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008581	88008581	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:88008581G>T	ENST00000276127.4	+	3	425	c.166G>T	c.(166-168)Gca>Tca	p.A56S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A56S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	56						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCCAGGCACAGCAACCTCCCA	0.453000													7	28					8.12818e-05	0.000280827	0.00198382	1	0
DDAH1	23576	broad.mit.edu	37	1	85816110	85816110	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:85816110C>G	ENST00000284031.8	-	4	679	c.585G>C	c.(583-585)caG>caC	p.Q195H	DDAH1_ENST00000426972.3_Missense_Mutation_p.Q102H|DDAH1_ENST00000539042.1_Missense_Mutation_p.Q195H|DDAH1_ENST00000542148.1_Missense_Mutation_p.Q95H|DDAH1_ENST00000535924.2_Missense_Mutation_p.Q92H|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	195					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TAAGGGCCTTCTGTGCAGATT	0.502000													49	95					0	0	0.000781405	0	0
FMO5	2330	broad.mit.edu	37	1	146672902	146672902	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672902G>C	ENST00000254090.4	-	7	1403	c.1015C>G	c.(1015-1017)Ctg>Gtg	p.L339V	FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.L339V|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	339						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAATCTTCCAGAAACGGAAAG	0.448000													18	51					0	0	0.000958276	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881806	108881806	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:108881806G>A	ENST00000329106.2	+	7	914	c.914G>A	c.(913-915)tGa>tAa	p.*305*		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	0						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACAGAGATCTGAGAGCAGTCA	0.458000													16	40					0	0	0.000308642	0	0
FYN	2534	broad.mit.edu	37	6	112035566	112035566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:112035566G>C	ENST00000354650.3	-	5	934	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	FYN_ENST00000229471.4_Missense_Mutation_p.Q110E|FYN_ENST00000368678.4_Missense_Mutation_p.Q110E|FYN_ENST00000368682.3_Missense_Mutation_p.Q110E|FYN_ENST00000368667.2_Missense_Mutation_p.Q110E|FYN_ENST00000538466.1_Missense_Mutation_p.Q110E|FYN_ENST00000356013.2_Missense_Mutation_p.Q110E|FYN_ENST00000229470.5_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	110	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAATATTTGAAATTTTTCT	0.438000													6	33					0	0	0.000274275	0	0
IQCB1	9657	broad.mit.edu	37	3	121507259	121507259	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:121507259G>A	ENST00000310864.6	-	12	1364	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	IQCB1_ENST00000349820.6_Missense_Mutation_p.R251W	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	384					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	p.R384W(1)		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)		TCCATTTCCCGATAGTGTTTC	0.388000													50	211					0	0	0.000781405	0	0
SNX30	401548	broad.mit.edu	37	9	115567234	115567234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115567234G>C	ENST00000374232.3	+	2	499	c.335G>C	c.(334-336)aGg>aCg	p.R112T		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ATCACCTATAGGATCACCACC	0.458000													31	84					0	0	0.000953801	0	0
GSTP1	2950	broad.mit.edu	37	11	67353675	67353675	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67353675G>T	ENST00000398606.3	+	6	686	c.437G>T	c.(436-438)gGa>gTa	p.G146V	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Intron	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	146	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TTCATTGTGGGAGACCAGGTG	0.567000													9	16					2.17888e-05	7.56382e-05	0.000442599	1	0
HRNR	388697	broad.mit.edu	37	1	152188523	152188523	+	Missense_Mutation	SNP	T	T	C	rs140946102		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152188523T>C	ENST00000368801.2	-	3	5657	c.5582A>G	c.(5581-5583)cAt>cGt	p.H1861R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1861					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGACCCATGTCGGCCACT	0.592000													46	519					0	0	0.000781405	0	0
FLNA	2316	broad.mit.edu	37	X	153578566	153578566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153578566G>A	ENST00000422373.1	-	44	7390	c.7142C>T	c.(7141-7143)gCt>gTt	p.A2381V	FLNA_ENST00000360319.4_Missense_Mutation_p.A2381V|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Missense_Mutation_p.A2389V|FLNA_ENST00000369856.3_Missense_Mutation_p.A522V|FLNA_ENST00000344736.4_Missense_Mutation_p.A2349V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2389					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGCGCACAGCATACTTATC	0.582000													23	58					0	0	0.000586117	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143723	61143723	+	RNA	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:61143723T>C	ENST00000475015.1	-	0	615				C20orf166-AS1_ENST00000412495.1_RNA																							GGAAGCGCTGTGGCGTGGGGC	0.672000													34	40					0	0	0.00209593	0	0
SH2B1	25970	broad.mit.edu	37	16	28878727	28878727	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:28878727G>C	ENST00000337120.5	+	2	4306	c.1015G>C	c.(1015-1017)Gac>Cac	p.D339H	SH2B1_ENST00000545570.1_Missense_Mutation_p.D29H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.D3H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D339H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D339H|SH2B1_ENST00000322610.8_Missense_Mutation_p.D339H	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	339	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGAGATGCCTGACCGGGAGAA	0.547000													53	145					0	0	0.000781405	0	0
SYNE2	23224	broad.mit.edu	37	14	64588835	64588835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:64588835C>G	ENST00000357395.3	+	70	13563	c.2419C>G	c.(2419-2421)Cag>Gag	p.Q807E	SYNE2_ENST00000344113.4_Missense_Mutation_p.Q4422E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q807E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4437E|SYNE2_ENST00000553455.1_Missense_Mutation_p.Q141E|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4422E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1056E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4422					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATACAACTCAGGAATCATC	0.328000													39	56					0	0	0.00148497	0	0
UBE3B	89910	broad.mit.edu	37	12	109939251	109939251	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109939251C>A	ENST00000342494.3	+	13	1789	c.1194C>A	c.(1192-1194)ttC>ttA	p.F398L	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.F398L|UBE3B_ENST00000434735.2_Missense_Mutation_p.F398L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGATCTTCTTCTGTGACATCC	0.562000													37	88					2.91434e-09	1.04658e-08	0.000953801	1	0
TNRC6A	27327	broad.mit.edu	37	16	24816470	24816470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:24816470C>T	ENST00000395799.3	+	14	4249	c.4120C>T	c.(4120-4122)Cag>Tag	p.Q1374*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q1325*|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1374					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACTCTCCCCTCAGGTAAATAA	0.438000													27	76					0	0	0.00127121	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185188	132185188	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:132185188G>C	ENST00000260818.6	+	19	2262	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTCGTACCTGAGAAGGATGC	0.393000													17	63					0	0	0.000958276	0	0
CIB4	130106	broad.mit.edu	37	2	26806690	26806690	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:26806690C>A	ENST00000288861.4	-	5	458	c.405G>T	c.(403-405)atG>atT	p.M135I	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	135							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCAGACATGTCATCAC	0.567000													22	69					7.41945e-09	2.64488e-08	0.000878237	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766328	27766328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:27766328C>G	ENST00000451261.2	+	5	1715	c.1316C>G	c.(1315-1317)gCc>gGc	p.A439G		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.A406V(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GAGCTGCTAGCCAGCTACAAT	0.443000													21	37					0	0	0.00188189	0	0
CADM1	23705	broad.mit.edu	37	11	115085457	115085457	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:115085457G>C	ENST00000452722.3	-	7	885	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	CADM1_ENST00000537058.1_Missense_Mutation_p.Q289E|CADM1_ENST00000542447.2_Missense_Mutation_p.Q289E|CADM1_ENST00000331581.6_Missense_Mutation_p.Q289E|CADM1_ENST00000536727.1_Missense_Mutation_p.Q289E|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACGGCGTGTTGAGGCATTTCA	0.473000													28	71					0	0	0.00283554	0	0
FLNB	2317	broad.mit.edu	37	3	58120443	58120443	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:58120443G>T	ENST00000357272.4	+	27	4780	c.4615G>T	c.(4615-4617)Gac>Tac	p.D1539Y	FLNB_ENST00000493452.1_Missense_Mutation_p.D1370Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1539Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D1539Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1539Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1570Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1539Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1370Y			O75369	FLNB_HUMAN	filamin B, beta	1539					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTACCTGTGGACTTTGCAAT	0.507000													52	70					4.17463e-26	1.56871e-25	0.000781405	1	0
CSF3	1440	broad.mit.edu	37	17	38173107	38173107	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38173107C>T	ENST00000331769.2	+	4	714	c.498C>T	c.(496-498)ttC>ttT	p.F166F	CSF3_ENST00000225474.2_Silent_p.F173F|CSF3_ENST00000394148.3_Silent_p.F137F|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000394149.3_Silent_p.F170F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	173					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCGGCCTTCGCCTCTGCTT	0.647000													25	45					0	0	0.000720815	0	0
CD3E	916	broad.mit.edu	37	11	118185207	118185207	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:118185207G>C	ENST00000361763.4	+	8	856	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	CD3E_ENST00000528600.1_Missense_Mutation_p.E183Q	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	189	ITAM.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CCCAGACTATGAGGTAACGTG	0.557000													9	14					0	0	0.000274275	0	0
THSD4	79875	broad.mit.edu	37	15	72039333	72039333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:72039333C>G	ENST00000355327.3	+	13	2327	c.2193C>G	c.(2191-2193)tgC>tgG	p.C731W	THSD4_ENST00000261862.6_Missense_Mutation_p.C731W|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.C371W			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	731	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity	p.C731C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCAGCACCTGCCAACTCAAGA	0.657000													7	12					0	0	0.000442599	0	0
DYNLL1	8655	broad.mit.edu	37	12	120935923	120935923	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:120935923G>C	ENST00000392509.2	+	3	441	c.180G>C	c.(178-180)agG>agC	p.R60S	DYNLL1_ENST00000549989.1_Missense_Mutation_p.R60S|DYNLL1_ENST00000552870.1_Splice_Site_p.E45Q|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000548342.1_Missense_Mutation_p.R60S|DYNLL1_ENST00000242577.6_Missense_Mutation_p.R60S|DYNLL1_ENST00000392508.2_Missense_Mutation_p.R60S	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	60					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGTGGGGAGGAACTTCGGTA	0.418000													8	29					0	0	0.000442599	0	0
TRA2A	29896	broad.mit.edu	37	7	23571441	23571441	+	Translation_Start_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:23571441C>T	ENST00000297071.4	-	1	219	c.3G>A	c.(1-3)atG>atA	p.M1I	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	1					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCACATCACTCATGTCGACGA	0.582000													19	40					0	0	0.00188189	0	0
TTC13	79573	broad.mit.edu	37	1	231051946	231051946	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:231051946C>T	ENST00000366661.4	-	18	2093	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	TTC13_ENST00000414259.1_Missense_Mutation_p.G643R|TTC13_ENST00000366662.4_Missense_Mutation_p.G642R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	696							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TACTTGTCTCCTGTAATCGTG	0.428000													39	103					0	0	0.00128727	0	0
TTN	7273	broad.mit.edu	37	2	179622543	179622543	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179622543G>T	ENST00000589042.1	-	45	10628	c.10404C>A	c.(10402-10404)atC>atA	p.I3468I	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.I3422I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3156							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)			ACAGAGGCTGGATGAAGCTGG	0.458000													86	62					1.21457e-23	4.54063e-23	0.000781405	1	0
LY6G6D	58530	broad.mit.edu	37	6	31685471	31685471	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:31685471C>G	ENST00000503322.1	+	6	1042	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	LY6G6F_ENST00000556581.1_Missense_Mutation_p.L347V|LY6G6D_ENST00000375825.3_Missense_Mutation_p.L98V																							GGACTGCTACCTGGGAGACCT	0.597000													39	109					0	0	0.00111076	0	0
CDS2	8760	broad.mit.edu	37	20	5170443	5170443	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:5170443G>C	ENST00000460006.1	+	12	1471	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	CDS2_ENST00000535100.1_Silent_p.L158L|CDS2_ENST00000379062.4_Silent_p.L268L|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	388					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GCCAGTATCTGATGGCCACCT	0.468000													45	157					0	0	0.000680045	0	0
ZER1	10444	broad.mit.edu	37	9	131504959	131504959	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131504959G>A	ENST00000291900.2	-	9	1831	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	475					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGACCCGGCGGTACTGGAATT	0.632000													12	18					0	0	0.00185496	0	0
IVL	3713	broad.mit.edu	37	1	152882414	152882414	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152882414G>A	ENST00000368764.3	+	2	205	c.141G>A	c.(139-141)gtG>gtA	p.V47V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	47					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGAAGGTGCCTGTCGAGC	0.542000													7	44					0	0	0.000274275	0	0
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACGCCACCTGAGTATTCTTC	0.473000										HNSCC(5;0.00058)			29	19					0	0	0.001512	0	0
OR8B4	283162	broad.mit.edu	37	11	124294715	124294715	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124294715G>A	ENST00000356130.3	-	1	74	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGCTGTTCTGATAATCCCAC	0.478000													17	36					0	0	0.000566183	0	0
KIF1B	23095	broad.mit.edu	37	1	10363644	10363644	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:10363644G>A	ENST00000377093.4	+	21	2554	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	KIF1B_ENST00000377083.1_Missense_Mutation_p.E801K|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTGGGGATGAGAAGATCGA	0.517000													21	52					0	0	0.00121646	0	0
FAM13A	10144	broad.mit.edu	37	4	89671055	89671055	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:89671055C>T	ENST00000264344.5	-	16	2153	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	FAM13A_ENST00000511976.1_Missense_Mutation_p.R235Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.R309Q|FAM13A_ENST00000508369.1_Missense_Mutation_p.R323Q|FAM13A_ENST00000513837.1_Missense_Mutation_p.R295Q|FAM13A_ENST00000395002.2_Missense_Mutation_p.R323Q	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	649					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R649Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGAGGAGCTTCGCCGCCTGTG	0.562000													5	56					0	0	0.000157383	0	0
KIF14	9928	broad.mit.edu	37	1	200550392	200550392	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200550392G>A	ENST00000367350.4	-	20	3710	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1091	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AATCATCATTGAGAGTTTCAT	0.328000													45	79					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237838043	237838043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:237838043C>G	ENST00000366574.2	+	60	9044	c.8727C>G	c.(8725-8727)gaC>gaG	p.D2909E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2907E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2893E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2909	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTTAAGGACCTGGAACTGG	0.388000													5	19					0	0	0.000602214	0	0
GPC6	10082	broad.mit.edu	37	13	93879779	93879779	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:93879779G>A	ENST00000377047.4	+	1	685	c.70G>A	c.(70-72)Gat>Aat	p.D24N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	24						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CGCCGGGGCGGATGTGAAGGC	0.632000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	41					0	0	0.000978159	0	0
RUSC2	9853	broad.mit.edu	37	9	35561306	35561306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:35561306C>T	ENST00000455600.1	+	12	5047	c.4478C>T	c.(4477-4479)tCt>tTt	p.S1493F		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1493	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCCGACTCTGGCCTGGTG	0.647000													25	87					0	0	0.00127121	0	0
KIAA1467	57613	broad.mit.edu	37	12	13219676	13219676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:13219676G>A	ENST00000197268.8	+	6	1075	c.955G>A	c.(955-957)Gtt>Att	p.V319I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	319						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)		TGGTCCTCAGGTTTACATCAC	0.502000													12	42					0	0	0.00136819	0	0
APC2	10297	broad.mit.edu	37	19	1456894	1456894	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:1456894G>A	ENST00000535453.1	+	8	2572	c.859G>A	c.(859-861)Gac>Aac	p.D287N	APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.D287N			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	287					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCGACGCGCGACCAGGAGGA	0.677000													5	1					0	0	0.000602214	0	0
KRT8	3856	broad.mit.edu	37	12	53298670	53298670	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:53298670G>A	ENST00000552551.1	-	2	528	c.96C>T	c.(94-96)cgC>cgT	p.R32R	KRT8_ENST00000552150.1_Silent_p.R60R|KRT8_ENST00000546897.1_Silent_p.R32R|KRT8_ENST00000293308.6_Silent_p.R32R			P05787	K2C8_HUMAN	keratin 8	32	Head.|Ser-rich.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGCTGATGCGGGAACCGG	0.667000													11	13					0	0	0.000673444	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148709287	148709287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:148709287G>T	ENST00000296721.4	+	16	1967	c.1869G>T	c.(1867-1869)ttG>ttT	p.L623F	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L623F	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	623							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTACTTGGTAGAAAAAG	0.512000													10	23					7.03913e-09	2.51545e-08	0.00136819	1	0
MTUS2	23281	broad.mit.edu	37	13	29599309	29599309	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:29599309T>C	ENST00000431530.3	+	1	562	c.504T>C	c.(502-504)gtT>gtC	p.V168V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	158						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCGGCATGTTCCCAAGGATA	0.507000													26	59					0	0	0.000878237	0	0
SPIRE2	84501	broad.mit.edu	37	16	89895104	89895104	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:89895104G>A	ENST00000378247.3	+	1	189	c.146G>A	c.(145-147)cGc>cAc	p.R49H	SPIRE2_ENST00000563972.1_Missense_Mutation_p.R49H|SPIRE2_ENST00000393062.2_Missense_Mutation_p.R49H|SPIRE2_ENST00000564878.1_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	49	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGGGCTGCCGCGGGCTGCGG	0.776000													4	8					0	0	0.000602214	0	0
FAM47B	170062	broad.mit.edu	37	X	34962542	34962542	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34962542C>T	ENST00000329357.5	+	1	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	532								p.R532C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498000													32	74					0	0	0.0024448	0	0
NRAP	4892	broad.mit.edu	37	10	115349525	115349525	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:115349525C>G	ENST00000369358.4	-	41	5256	c.5012G>C	c.(5011-5013)aGa>aCa	p.R1671T	NRAP_ENST00000360478.3_Missense_Mutation_p.R1628T|NRAP_ENST00000359988.3_Missense_Mutation_p.R1663T|NRAP_ENST00000369360.3_Missense_Mutation_p.R1636T			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1663						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCAACACCTCTGGTCAGGTT	0.542000													30	58					0	0	0.00178596	0	0
CHRM3	1131	broad.mit.edu	37	1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:240072502G>A	ENST00000255380.4	+	5	2530	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTCACAAGCGCGCACCCGAG	0.522000													12	47					0	0	0.00136819	0	0
GPR50	9248	broad.mit.edu	37	X	150349531	150349531	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349531C>A	ENST00000218316.3	+	2	1545	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	492	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTGCCTTCAGTGCTGCCA	0.572000													87	196					4.92795e-40	1.86622e-39	0.000781405	1	0
AKNA	80709	broad.mit.edu	37	9	117122258	117122258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:117122258C>G	ENST00000307564.4	-	10	2370	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	AKNA_ENST00000374075.5_Missense_Mutation_p.E656Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E737Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E737Q|AKNA_ENST00000223791.3_Missense_Mutation_p.E197Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCCTGTCCTCCACCTCACTG	0.622000													12	53					0	0	0.000978159	0	0
P2RY10	27334	broad.mit.edu	37	X	78216602	78216602	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:78216602G>T	ENST00000171757.2	+	4	865	c.585G>T	c.(583-585)ttG>ttT	p.L195F	P2RY10_ENST00000544091.1_Missense_Mutation_p.L195F	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	195						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L195F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTTGCGTTGGTCGGGATGA	0.458000													22	61					1.64113e-05	5.71068e-05	0.00152264	1	0
C1orf94	84970	broad.mit.edu	37	1	34663406	34663406	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:34663406C>T	ENST00000488417.1	+	2	1021	c.901C>T	c.(901-903)Cct>Tct	p.P301S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P111S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	111							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCCTGCACGTCCTGACAAGCT	0.612000													18	40					0	0	0.000958276	0	0
C7orf63	79846	broad.mit.edu	37	7	89887468	89887468	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:89887468G>A	ENST00000389297.4	+	3	488	c.237G>A	c.(235-237)caG>caA	p.Q79Q	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.Q79Q|C7orf63_ENST00000316089.8_Silent_p.Q79Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	79							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGTGTTATCAGAATGGACTTG	0.289000													11	25					0	0	0.000673444	0	0
MAP2K3	5606	broad.mit.edu	37	17	21204234	21204234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:21204234G>A	ENST00000342679.4	+	5	577	c.328G>A	c.(328-330)Gac>Aac	p.D110N	MAP2K3_ENST00000361818.5_Missense_Mutation_p.D81N|MAP2K3_ENST00000316920.6_Missense_Mutation_p.D81N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	110	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTGCTCATGGACCTGGACAT	0.587000													11	80					0	0	0.000673444	0	0
RGL1	23179	broad.mit.edu	37	1	183853949	183853949	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:183853949C>T	ENST00000304685.4	+	8	1382	c.933C>T	c.(931-933)atC>atT	p.I311I	RGL1_ENST00000539189.1_Silent_p.I276I|RGL1_ENST00000360851.3_Silent_p.I276I|RGL1_ENST00000536277.1_Silent_p.I274I	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTCCTACGATCCGTGCCACCA	0.478000													19	39					0	0	0.000958276	0	0
TGM6	343641	broad.mit.edu	37	20	2377244	2377244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:2377244C>T	ENST00000202625.2	+	4	578	c.517C>T	c.(517-519)Cga>Tga	p.R173*	TGM6_ENST00000381423.1_Nonsense_Mutation_p.R173*|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	173					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAAGCACATACGAGCCCAGGG	0.612000													7	39					0	0	0.00198382	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097693	43097693	+	Splice_Site	SNP	G	G	A	rs146875157	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:43097693G>A	ENST00000244336.5	-	2	525	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	142	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.P142T(1)|p.P142S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AATCACTCACGATGTACGCTG	0.498000													33	64					0	0	0.00209593	0	0
RBM14	10432	broad.mit.edu	37	11	66384516	66384516	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66384516G>C	ENST00000310137.4	+	1	464	c.325G>C	c.(325-327)Gac>Cac	p.D109H	RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.D109H|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.D109H|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000443702.1_Missense_Mutation_p.D109H|RBM14_ENST00000393979.3_Missense_Mutation_p.D109H|RBM14_ENST00000409372.1_Missense_Mutation_p.D109H|RBM4_ENST00000514361.3_Missense_Mutation_p.D109H|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000409738.4_Missense_Mutation_p.D109H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	109	RRM 2.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCGAGTGTGACGTGGTGAA	0.652000													16	43					0	0	0.00074312	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388452	46388452	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46388452G>C	ENST00000302165.3	-	1	924	c.581C>G	c.(580-582)tCc>tGc	p.S194C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCGAAATCGGAGCCGAAGAG	0.647000													29	85					0	0	0.00209593	0	0
ACTN1	87	broad.mit.edu	37	14	69387726	69387726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:69387726C>T	ENST00000193403.6	-	3	720	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ACTN1_ENST00000394419.4_Missense_Mutation_p.E113K|ACTN1_ENST00000376839.3_Missense_Mutation_p.E48K|ACTN1_ENST00000438964.2_Missense_Mutation_p.E113K|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.E113K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	113	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCTTACCTTCGGCTCCGATG	0.557000													28	99					0	0	0.001512	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													11	44					0	0	0.000978159	0	0
GPR98	84059	broad.mit.edu	37	5	90049511	90049511	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:90049511G>C	ENST00000405460.2	+	54	11338	c.11242G>C	c.(11242-11244)Gag>Cag	p.E3748Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3748					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGGGTTGAGGACTCATA	0.448000													7	32					0	0	0.00198382	0	0
TRIM65	201292	broad.mit.edu	37	17	73887139	73887139	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73887139G>C	ENST00000269383.3	-	6	1340	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	425	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGACGCAGAGCCCCCAGG	0.687000													9	19					0	0	0.000274275	0	0
PREX2	80243	broad.mit.edu	37	8	69030845	69030845	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:69030845C>T	ENST00000288368.4	+	27	3664	c.3387C>T	c.(3385-3387)tgC>tgT	p.C1129C		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1129					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGCCAGTGCAGCTCGTATT	0.448000													31	71					0	0	0.0024448	0	0
CHTF18	63922	broad.mit.edu	37	16	844108	844108	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:844108C>T	ENST00000455171.2	+	14	2002	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	CHTF18_ENST00000262315.9_Silent_p.D619D|CHTF18_ENST00000317063.6_Intron			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	619					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGCTGGGTGACGGGGACGCGG	0.662000													13	56					0	0	0.00185496	0	0
ANKH	56172	broad.mit.edu	37	5	14746024	14746024	+	Silent	SNP	G	G	A	rs111688928		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:14746024G>A	ENST00000284268.6	-	7	1200	c.870C>T	c.(868-870)taC>taT	p.Y290Y	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.Y92Y	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	290					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAACCAGCCGTATGGCATGT	0.522000													18	31					0	0	0.00121646	0	0
AFF3	3899	broad.mit.edu	37	2	100170988	100170988	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:100170988C>T	ENST00000409236.2	-	22	3456	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	AFF3_ENST00000409579.1_Missense_Mutation_p.G1140E|AFF3_ENST00000356421.2_Missense_Mutation_p.G1140E|AFF3_ENST00000317233.4_Missense_Mutation_p.G1115E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGATGGGGTTCCAGTGCTCCT	0.652000													4	7					0	0	0.00024832	0	0
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617000													12	20					0	0	0.00136819	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431626	117431626	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117431626G>A	ENST00000160373.3	-	4	1715	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	542	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATAGGAGGAGGATTTCCTCTG	0.547000													38	104					0	0	0.00111076	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546965	2546965	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546965C>T	ENST00000567020.1	+	2	956	c.816C>T	c.(814-816)ttC>ttT	p.F272F	TBC1D24_ENST00000434757.2_Silent_p.F272F|TBC1D24_ENST00000293970.5_Silent_p.F272F|RP11-20I23.1_ENST00000564543.1_Silent_p.F272F	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	272					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCGCACGTTCGTCAGAGACA	0.622000													14	50					0	0	0.000422831	0	0
PLEC	5339	broad.mit.edu	37	8	144991585	144991585	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144991585G>T	ENST00000322810.4	-	32	12984	c.12815C>A	c.(12814-12816)tCc>tAc	p.S4272Y	PLEC_ENST00000398774.2_Missense_Mutation_p.S4103Y|PLEC_ENST00000356346.3_Missense_Mutation_p.S4121Y|PLEC_ENST00000357649.2_Missense_Mutation_p.S4139Y|PLEC_ENST00000354958.2_Missense_Mutation_p.S4113Y|PLEC_ENST00000527096.1_Missense_Mutation_p.S4158Y|PLEC_ENST00000345136.3_Missense_Mutation_p.S4135Y|PLEC_ENST00000436759.2_Missense_Mutation_p.S4162Y|PLEC_ENST00000354589.3_Missense_Mutation_p.S4135Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4272	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTGCGCACGGAGGACTTGGA	0.617000													16	34					1.15088e-07	4.07277e-07	0.000422831	1	0
DNAH7	56171	broad.mit.edu	37	2	196698996	196698996	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:196698996C>A	ENST00000312428.6	-	48	9134	c.9034G>T	c.(9034-9036)Gtg>Ttg	p.V3012L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3012	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTTAATCACATAAAGACTA	0.383000													35	14					3.11337e-16	1.15504e-15	0.00283554	1	0
SAMD11	148398	broad.mit.edu	37	1	878363	878363	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:878363G>A	ENST00000342066.3	+	11	1572	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	497						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGCCGGCGCCGAGGGGAAGGG	0.687000													4	4					0	0	0.000602214	0	0
E2F8	79733	broad.mit.edu	37	11	19256582	19256582	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:19256582C>T	ENST00000527884.1	-	5	707	c.475G>A	c.(475-477)Gat>Aat	p.D159N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.D159N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	159					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCACGATATCGTAAATGCGT	0.423000													9	21					0	0	0.000673444	0	0
BCORL1	63035	broad.mit.edu	37	X	129148662	129148662	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129148662G>A	ENST00000540052.1	+	3	1958	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	BCORL1_ENST00000359304.2_Silent_p.Q638Q|BCORL1_ENST00000218147.7_Silent_p.Q638Q|BCORL1_ENST00000303743.5_Silent_p.Q638Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	638	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCGAACCAGCGCAAGACAC	0.612000													28	65					0	0	0.00106085	0	0
APOO	79135	broad.mit.edu	37	X	23898967	23898967	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:23898967C>T	ENST00000379226.4	-	2	343	c.112G>A	c.(112-114)Gat>Aat	p.D38N	APOO_ENST00000379220.3_Missense_Mutation_p.D38N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	38					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GTTACCTCATCAACCTTCACG	0.413000													10	35					0	0	0.000442599	0	0
MERTK	10461	broad.mit.edu	37	2	112705072	112705072	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:112705072A>G	ENST00000295408.4	+	4	942	c.685A>G	c.(685-687)Att>Gtt	p.I229V	MERTK_ENST00000421804.2_Missense_Mutation_p.I229V|MERTK_ENST00000409780.1_Missense_Mutation_p.I53V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	229	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCGTCAACATTTTCTGGGT	0.507000													19	56					0	0	0.000958276	0	0
PLEC	5339	broad.mit.edu	37	8	145002057	145002057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:145002057G>C	ENST00000322810.4	-	26	3944	c.3775C>G	c.(3775-3777)Ctc>Gtc	p.L1259V	PLEC_ENST00000398774.2_Missense_Mutation_p.L1090V|PLEC_ENST00000356346.3_Missense_Mutation_p.L1108V|PLEC_ENST00000357649.2_Missense_Mutation_p.L1126V|PLEC_ENST00000354958.2_Missense_Mutation_p.L1100V|PLEC_ENST00000527096.1_Missense_Mutation_p.L1145V|PLEC_ENST00000345136.3_Missense_Mutation_p.L1122V|PLEC_ENST00000436759.2_Missense_Mutation_p.L1149V|PLEC_ENST00000354589.3_Missense_Mutation_p.L1122V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1259	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCGGGAGGGTGGCCGGC	0.692000													4	5					0	0	0.000602214	0	0
DOCK1	1793	broad.mit.edu	37	10	128798508	128798508	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:128798508G>A	ENST00000280333.6	+	10	1031	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	308					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGGTCGCATGGAGCTGAGGGA	0.453000													11	37					0	0	0.000978159	0	0
CTCF	10664	broad.mit.edu	37	16	67654676	67654676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67654676G>A	ENST00000264010.4	+	6	1607	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	CTCF_ENST00000401394.1_Missense_Mutation_p.S60N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	388					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTTATGCCAGCAGGGACACA	0.443000													22	52					0	0	0.00152264	0	0
GLI1	2735	broad.mit.edu	37	12	57865455	57865455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57865455G>C	ENST00000228682.2	+	12	3023	c.2932G>C	c.(2932-2934)Gca>Cca	p.A978P	GLI1_ENST00000546141.1_Missense_Mutation_p.A937P|GLI1_ENST00000543426.1_Missense_Mutation_p.A850P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	978					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTAGTGGGGGCAAATAGGGC	0.537000													34	62					0	0	0.00058488	0	0
BICD2	23299	broad.mit.edu	37	9	95482948	95482948	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482948G>T	ENST00000356884.6	-	4	763	c.696C>A	c.(694-696)ctC>ctA	p.L232L	BICD2_ENST00000375512.3_Silent_p.L232L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	232					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATCTCCTTGAGGCGGATGG	0.587000													44	63					1.06522e-23	3.99252e-23	0.000680045	1	0
SFTPB	6439	broad.mit.edu	37	2	85890579	85890579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:85890579C>T	ENST00000342375.3	-	9	1027	c.892G>A	c.(892-894)Gag>Aag	p.E298K	SFTPB_ENST00000393822.3_Missense_Mutation_p.E310K|SFTPB_ENST00000519937.2_Missense_Mutation_p.E298K|SFTPB_ENST00000409383.1_Missense_Mutation_p.E310K	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	298	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGGTGGCACTCAGAGTCTCGC	0.612000													14	28					0	0	0.000422831	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667594	65667594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:65667594C>A	ENST00000327987.4	-	2	501	c.250G>T	c.(250-252)Gag>Tag	p.E84*		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	84	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTACTCTCTGGCAGCTCT	0.602000													9	23					1.04858e-14	3.85094e-14	0.000442599	1	0
AMPH	273	broad.mit.edu	37	7	38431490	38431490	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:38431490G>A	ENST00000356264.2	-	19	1952	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	AMPH_ENST00000428293.2_Silent_p.S537S|AMPH_ENST00000325590.5_Silent_p.S537S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	579					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGGTGTCTCGCTGGTGGGGC	0.612000													13	25					0	0	0.00185496	0	0
GNB1L	54584	broad.mit.edu	37	22	19799811	19799811	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:19799811G>A	ENST00000329517.6	-	5	650	c.414C>T	c.(412-414)gaC>gaT	p.D138D	GNB1L_ENST00000403325.1_Silent_p.D138D|GNB1L_ENST00000405009.1_Silent_p.D138D|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTCTCACCTCGTCGCTGCCCC	0.647000													10	15					0	0	0.00136819	0	0
RYR1	6261	broad.mit.edu	37	19	39071143	39071143	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:39071143C>T	ENST00000355481.4	+	100	14761	c.14630C>T	c.(14629-14631)aCg>aTg	p.T4877M	RYR1_ENST00000360985.3_Splice_Site_p.T4877M|RYR1_ENST00000359596.3_Splice_Site_p.T4882M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4882					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)	GACATGATGACGGTGAGCCCC	0.547000													23	34					0	0	0.00229938	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671303	36671303	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:36671303G>A	ENST00000265113.4	+	4	968	c.492G>A	c.(490-492)gtG>gtA	p.V164V	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.V164V	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	164					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTGTACGAGTGACAGCTGCAG	0.473000													9	23					0	0	0.000442599	0	0
MIF4GD	57409	broad.mit.edu	37	17	73265503	73265503	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73265503C>G	ENST00000577542.1	-	3	392	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E44Q|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E37Q			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	27	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACGGAATATTCTCCATCTTCT	0.473000													44	137					0	0	0.0025221	0	0
CEBPZ	10153	broad.mit.edu	37	2	37441016	37441016	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:37441016C>G	ENST00000234170.5	-	10	2681	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	AC007390.5_ENST00000438935.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	846					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCAATCAGCTCTTCAAATTCT	0.318000													12	16					0	0	0.000978159	0	0
ARSD	414	broad.mit.edu	37	X	2836237	2836237	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:2836237G>A	ENST00000381154.1	-	5	546	c.471C>T	c.(469-471)tcC>tcT	p.S157S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	157						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATCCCCGCGGGATGCACAAT	0.557000													3	6					0	0	6.4e-05	0	0
EP300	2033	broad.mit.edu	37	22	41545045	41545045	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:41545045A>G	ENST00000263253.7	+	13	3464	c.2245A>G	c.(2245-2247)Atg>Gtg	p.M749V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	749					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTTCAGCCTATGGGCTATGG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				15	34					0	0	0.000308642	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437047	142437047	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:142437047G>A	ENST00000520105.1	+	4	1150	c.207G>A	c.(205-207)ccG>ccA	p.P69P	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Silent_p.P69P|PTP4A3_ENST00000329397.1_Silent_p.P69P|PTP4A3_ENST00000349124.1_Silent_p.P69P			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	69						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			AGGACTGGCCGTTTGACGATG	0.672000													61	100					0	0	0.000781405	0	0
INPP4B	8821	broad.mit.edu	37	4	142949964	142949964	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:142949964C>G	ENST00000513000.1	-	27	3179	c.2746G>C	c.(2746-2748)Gag>Cag	p.E916Q	INPP4B_ENST00000508116.1_Missense_Mutation_p.E916Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.E916Q|INPP4B_ENST00000308502.4_Missense_Mutation_p.E916Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	916					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAAGTCCCCTCTGGAGGTCTG	0.393000													40	17					0	0	0.0025221	0	0
TNPO3	23534	broad.mit.edu	37	7	128614995	128614995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128614995G>C	ENST00000393245.1	-	18	2675	c.2302C>G	c.(2302-2304)Cag>Gag	p.Q768E	TNPO3_ENST00000265388.5_Missense_Mutation_p.Q734E|TNPO3_ENST00000471234.1_Missense_Mutation_p.Q670E|TNPO3_ENST00000471166.1_Missense_Mutation_p.Q768E|TNPO3_ENST00000482320.1_Missense_Mutation_p.Q668E	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	734					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTAGGAGCTGAAAGGTGGGG	0.428000													21	50					0	0	0.00229938	0	0
BICD2	23299	broad.mit.edu	37	9	95482616	95482616	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482616G>C	ENST00000356884.6	-	4	1095	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	BICD2_ENST00000375512.3_Missense_Mutation_p.S343C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	343					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGATCTCAGAGATGTTGAG	0.632000													29	38					0	0	0.00127121	0	0
FAM47A	158724	broad.mit.edu	37	X	34149301	34149301	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34149301C>T	ENST00000346193.3	-	1	1146	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	365								p.A365A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTTGGGAGGCGCTAGGCGGA	0.632000													15	26					0	0	0.00244969	0	0
IFNAR1	3454	broad.mit.edu	37	21	34721714	34721714	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:34721714C>G	ENST00000270139.3	+	8	1160	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V	IFNAR1_ENST00000416947.2_Silent_p.V267V|IFNAR1_ENST00000442357.2_Silent_p.V336V	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	336	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTCCTCCAGTCTTTAACATTA	0.343000													12	20					0	0	0.000978159	0	0
OR5A1	219982	broad.mit.edu	37	11	59211229	59211229	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211229C>T	ENST00000302030.2	+	1	613	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGACACCTTCCTCAGTCAAG	0.512000													66	142					0	0	0.000781405	0	0
ST18	9705	broad.mit.edu	37	8	53084872	53084872	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:53084872C>T	ENST00000276480.7	-	10	1232	c.549G>A	c.(547-549)caG>caA	p.Q183Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAGGGTGGCTGAGAATCAT	0.448000													31	74					0	0	0.00127121	0	0
SPEN	23013	broad.mit.edu	37	1	16255003	16255003	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:16255003C>G	ENST00000375759.3	+	11	2472	c.2268C>G	c.(2266-2268)taC>taG	p.Y756*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	756	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGGCTTTACAGCCGATCCT	0.512000													27	65					0	0	0.000720815	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546956	2546956	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546956C>G	ENST00000567020.1	+	2	947	c.807C>G	c.(805-807)atC>atG	p.I269M	TBC1D24_ENST00000434757.2_Missense_Mutation_p.I269M|TBC1D24_ENST00000293970.5_Missense_Mutation_p.I269M|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.I269M	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	269					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGCAGGACATCCGCACGTTCG	0.622000													14	54					0	0	0.00074312	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182156	5182156	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:5182156G>T	ENST00000274181.7	+	4	639		c.e4-1		ADAMTS16_ENST00000511368.1_Splice_Site	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTTTTTCCAGTCAGGCATGA	0.448000													19	69					1.01871e-10	3.68556e-10	0.00121646	1	0
SUGP1	57794	broad.mit.edu	37	19	19407889	19407889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:19407889C>G	ENST00000247001.5	-	8	1499	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	384					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCCACCGGCTCTTCCGCTTCC	0.667000													17	27					0	0	0.000958276	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152596	50152596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50152596G>C	ENST00000284509.6	-	28	3515	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S1125*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1125					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGACCTTCTTGAGCTTGACCT	0.522000													21	55					0	0	0.00152264	0	0
C5orf22	55322	broad.mit.edu	37	5	31535946	31535946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:31535946G>C	ENST00000325366.9	+	3	450	c.323G>C	c.(322-324)aGa>aCa	p.R108T	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	108										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGCAGATCAGAGAGGGCAGA	0.383000													13	37					0	0	0.00185496	0	0
PLK3	1263	broad.mit.edu	37	1	45269884	45269884	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:45269884T>G	ENST00000372201.4	+	11	1547	c.1308T>G	c.(1306-1308)tgT>tgG	p.C436W	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	436						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGCCCTTTGTGCTCTGAGAA	0.552000													19	35					0	0	0.00074312	0	0
MACC1	346389	broad.mit.edu	37	7	20199869	20199869	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:20199869C>T	ENST00000400331.5	-	5	424		c.e5-1		MACC1_ENST00000589011.1_Splice_Site|MACC1_ENST00000332878.4_Splice_Site	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1						positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCCTGGCATTCTTGTTATTTA	0.388000													13	29					0	0	0.00136819	0	0
FMO5	2330	broad.mit.edu	37	1	146672821	146672821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672821G>C	ENST00000254090.4	-	7	1484	c.1096C>G	c.(1096-1098)Ctt>Gtt	p.L366V	FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.L366V|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	366						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATGATTGCAAGAGTTGGCCTT	0.453000													14	33					0	0	0.00244969	0	0
FLNC	2318	broad.mit.edu	37	7	128489029	128489029	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128489029C>T	ENST00000325888.8	+	28	5181	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L	FLNC_ENST00000346177.6_Silent_p.L1640L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1640				L -> T (in Ref. 9; CAA49689).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGTGCCTCGTCACAGGTG	0.657000													28	54					0	0	0.00209593	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			25	23					0	0	0.00127121	0	0
DOCK8	81704	broad.mit.edu	37	9	328082	328082	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:328082C>T	ENST00000432829.2	+	9	1067	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.H251Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.H319Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	319					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGCGAGCTCACACGCCTTC	0.458000													12	71					0	0	0.000978159	0	0
CEP78	84131	broad.mit.edu	37	9	80881596	80881596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:80881596C>G	ENST00000424347.2	+	15	2325	c.2036C>G	c.(2035-2037)tCt>tGt	p.S679C	CEP78_ENST00000376598.2_Missense_Mutation_p.S695C|CEP78_ENST00000376597.4_Missense_Mutation_p.S696C|CEP78_ENST00000415759.2_Missense_Mutation_p.S680C|CEP78_ENST00000277082.5_Missense_Mutation_p.S679C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	679					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGCAGATCTTCTTCAGAGAAA	0.418000													5	19					0	0	0.00198382	0	0
PDIA2	64714	broad.mit.edu	37	16	335191	335191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:335191C>G	ENST00000219406.6	+	5	804	c.786C>G	c.(784-786)ttC>ttG	p.F262L	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.F259L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	262					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCACGGAGTTCAACAGCCAGG	0.662000													7	29					0	0	0.00198382	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784504	30784504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:30784504G>T	ENST00000246229.4	-	3	1506	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTAGGTGGGAGAAGTCCACAT	0.642000													14	16					0.000151284	0.000518995	0.00185496	1	0
EHBP1	23301	broad.mit.edu	37	2	63175857	63175857	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:63175857G>A	ENST00000263991.5	+	14	2463	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	EHBP1_ENST00000405015.3_Missense_Mutation_p.G626R|EHBP1_ENST00000431489.1_Missense_Mutation_p.G626R|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626R|EHBP1_ENST00000405289.1_Missense_Mutation_p.G626R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GCAGAGCTCTGGAAGGACTTC	0.468000													17	24					0	0	0.000422831	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200709041	200709062	+	Frame_Shift_Del	DEL	GGGCCAAAATCGCCTGCAATCT	GGGCCAAAATCGCCTGCAATCT	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200709041_200709062delGGGCCAAAATCGCCTGCAATCT	ENST00000358823.2	+	1	356_377	c.86_107delGGGCCAAAATCGCCTGCAATCT	c.(85-108)agggccaaaatcgcctgcaatctgfs	p.RAKIACNL29fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.RAKIACNL29fs|CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.RAKIACNL29fs	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	29						cytoplasm|microtubule	protein binding										GATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTG	0.550													8	71	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97875579	97875580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:97875579_97875580insA	ENST00000420699.2	+	56	3581_3582	c.3337_3338insA	c.(3337-3339)gaafs	p.E1113fs	ANKRD36_ENST00000461153.2_Frame_Shift_Ins_p.E1113fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1113										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATAGCCAGAGAAAAAAAGGAT	0.322													4	6	---	---	---	---					
CCNL1	57018	broad.mit.edu	37	3	156877198	156877198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:156877198delA	ENST00000295926.3	-	2	492	c.374delT	c.(373-375)ttcfs	p.F125fs	CCNL1_ENST00000295925.4_Frame_Shift_Del_p.F125fs|CCNL1_ENST00000461804.1_Frame_Shift_Del_p.F125fs	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	125	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCTTACCTCGAAACTGTGTTT	0.517													17	50	---	---	---	---					
ZDHHC19	131540	broad.mit.edu	37	3	195925257	195925257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:195925257delA	ENST00000296326.3	-	7	918	c.839delT	c.(838-840)ctgfs	p.L280fs		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	280						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TGGAGGGTGCAGATTCGGCAT	0.652													12	58	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47538490	47538491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:47538490_47538491insT	ENST00000273859.3	+	8	1321_1322	c.1052_1053insT	c.(1051-1056)cattttfs	p.HF351fs	ATP10D_ENST00000504445.1_Frame_Shift_Ins_p.HF351fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	351					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAAAGATGCATTTTTTCAATG	0.342													112	80	---	---	---	---					
EYA4	2070	broad.mit.edu	37	6	133783839	133783839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:133783839delA	ENST00000367895.5	+	9	1125	c.661delA	c.(661-663)agtfs	p.S221fs	EYA4_ENST00000430974.2_Frame_Shift_Del_p.S167fs|EYA4_ENST00000525849.1_Frame_Shift_Del_p.S198fs|EYA4_ENST00000355167.3_Frame_Shift_Del_p.S221fs|EYA4_ENST00000355286.6_Frame_Shift_Del_p.S198fs|EYA4_ENST00000431403.2_Frame_Shift_Del_p.S221fs|EYA4_ENST00000452339.2_Frame_Shift_Del_p.S167fs|EYA4_ENST00000531901.1_Frame_Shift_Del_p.S221fs	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	221					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGCTGCCTCAGTTACAGCCC	0.473													23	37	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													3	3	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43432924	43432924	+	RNA	DEL	C	C	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:43432924delC	ENST00000406070.2	-	0	806				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGCCAATGCTCCAGGGATCCA	0.473													2	4	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35533895	35533896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:35533895_35533896insA	ENST00000262878.4	-	12	1480_1481	c.1281_1282insT	c.(1279-1284)tttctgfs	p.L428fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	428					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAAATCTCCAGAAAAATGTTAT	0.292													41	63	---	---	---	---					
GLUD2	2747	broad.mit.edu	37	X	120182413	120182413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:120182413delT	ENST00000328078.1	+	1	952	c.875delT	c.(874-876)attfs	p.I292fs		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	292					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TACATGAGCATTTTAGGAATG	0.438													36	108	---	---	---	---