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
IGLV5-48	28780	broad.mit.edu	37	22	22707529	22707529	+	RNA	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:22707529C>T	ENST00000390293.1	+	0	117																											CAGCCAGACTCACCTGCACCT	0.537000													14	100					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87325686	87325686	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:87325686A>C	ENST00000304053.6	+	6	1046	c.563A>C	c.(562-564)aAc>aCc	p.N188T	NTRK2_ENST00000359847.3_Missense_Mutation_p.N188T|NTRK2_ENST00000323115.4_Missense_Mutation_p.N188T|NTRK2_ENST00000376208.1_Missense_Mutation_p.N188T|NTRK2_ENST00000277120.3_Missense_Mutation_p.N188T|NTRK2_ENST00000376214.1_Missense_Mutation_p.N188T|NTRK2_ENST00000395882.1_Missense_Mutation_p.N188T|NTRK2_ENST00000395866.2_Missense_Mutation_p.N32T|NTRK2_ENST00000376213.1_Missense_Mutation_p.N188T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	188	LRRCT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCCCTGGCAAACCTGCAGATA	0.398000										TSP Lung(25;0.17)			7	52					0	0	1	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887209	32887209	+	RNA	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:32887209G>A	ENST00000399070.3	+	0	1603					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						TCAAAGCTCAGACCTCACTAA	0.388000													10	46					0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32692075	32692075	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:32692075G>A	ENST00000373586.1	+	6	544	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	158						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GGGACCCCTGGGGGAGTGCAT	0.512000													17	117					0	0	1	0	0
RPL23A	6147	broad.mit.edu	37	17	27047786	27047786	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:27047786G>C	ENST00000422514.2	+	2	700	c.87G>C	c.(85-87)ttG>ttC	p.L29F	RPL23A_ENST00000496182.1_5'UTR|RPL23A_ENST00000472628.1_5'UTR|RPL23A_ENST00000394938.4_Missense_Mutation_p.L67F	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	29					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					AGGCAGTGTTGAAAGGTGTCC	0.542000											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	88					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183152	11183152	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:11183152G>A	ENST00000390675.2	-	1	854	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	261					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TGCAGAACATGAAGACAGGTT	0.388000													18	152					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146449	220146449	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:220146449G>A	ENST00000336576.5	+	4	473	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.R62Q	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	62	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCACAAGCGGGAGATTTAC	0.597000													5	26					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42874353	42874353	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:42874353G>A	ENST00000334370.4	+	38	7281	c.6646G>A	c.(6646-6648)Gag>Aag	p.E2216K	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Missense_Mutation_p.E2283K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2283	EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCCACTGTGAGCAGTGCCT	0.622000													4	43					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450035	35450035	+	Nonsense_Mutation	SNP	C	C	A	rs138080556		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:35450035C>A	ENST00000404801.1	-	4	1110	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	ZNF792_ENST00000605484.1_Nonsense_Mutation_p.E175*	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCACACCTTCGGTGGCCTCG	0.537000													7	79					8.12818e-05	8.46686e-05	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150671863	150671863	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:150671863C>T	ENST00000262186.5	-	2	644	c.243G>A	c.(241-243)caG>caA	p.Q81Q	KCNH2_ENST00000430723.3_Silent_p.Q81Q	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	81					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCTGCGCGATCTGCGCGGCAG	0.716000													3	27					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870978	135870978	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:135870978T>C	ENST00000309993.2	-	2	1477	c.745A>G	c.(745-747)Aca>Gca	p.T249A	MSL2_ENST00000434835.2_Missense_Mutation_p.T175A	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	249					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCAATGCCTGTGGAACATAAG	0.418000													5	50					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70983837	70983837	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:70983837C>T	ENST00000334414.6	-	8	2001	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	PTPRB_ENST00000551525.1_Missense_Mutation_p.D652N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D435N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.D653N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D435N|PTPRB_ENST00000550857.1_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	435	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCCCGTGTCATCCATGACA	0.493000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208578	14208578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:14208578G>A	ENST00000308677.4	-	6	740	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	PRKACA_ENST00000589994.1_Nonsense_Mutation_p.Q174*|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	182	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GTGGGCACCTGAATGTAGCCC	0.617000													6	32					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10673502	10673502	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:10673502C>T	ENST00000312962.6	-	4	323	c.304G>A	c.(304-306)Gac>Aac	p.D102N	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.D98N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	102										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTCACTGTCTGATGACGAT	0.552000													4	50					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116233903	116233903	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:116233903A>G	ENST00000355485.2	+	8	1749	c.1478A>G	c.(1477-1479)aAt>aGt	p.N493S	VANGL1_ENST00000369509.1_Missense_Mutation_p.N493S|VANGL1_ENST00000369510.4_Missense_Mutation_p.N491S|VANGL1_ENST00000310260.3_Missense_Mutation_p.N493S	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	493					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCGTAGTCAATGTGAAGAAA	0.428000													12	27					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742875	71742875	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:71742875C>T	ENST00000258104.3	+	7	1063	c.786C>T	c.(784-786)ttC>ttT	p.F262F	DYSF_ENST00000409762.1_Silent_p.F293F|DYSF_ENST00000409366.1_Silent_p.F263F|DYSF_ENST00000429174.2_Silent_p.F262F|DYSF_ENST00000409744.1_Silent_p.F263F|DYSF_ENST00000394120.2_Silent_p.F263F|DYSF_ENST00000409582.3_Silent_p.F293F|DYSF_ENST00000410020.3_Silent_p.F294F|DYSF_ENST00000409651.1_Silent_p.F294F|DYSF_ENST00000410041.1_Silent_p.F294F|DYSF_ENST00000413539.2_Silent_p.F293F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	262	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCACTCTTCAATGAGGTGG	0.582000													6	42					0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39137511	39137511	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:39137511G>A	ENST00000405510.1	-	11	1492	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	SUN2_ENST00000216064.4_Silent_p.V378V|SUN2_ENST00000406622.1_Silent_p.V378V|SUN2_ENST00000405018.1_Silent_p.V399V|SUN2_ENST00000411587.2_Silent_p.V367V|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	378					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGGCCCGGACGATCTTCT	0.597000													6	32					0	0	1	0	0
MED22	6837	broad.mit.edu	37	9	136211147	136211147	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:136211147G>C	ENST00000491289.1	-	4	827	c.246C>G	c.(244-246)ctC>ctG	p.L82L	MED22_ENST00000344469.5_Silent_p.L82L|MED22_ENST00000371999.1_Silent_p.L76L|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Silent_p.L82L|MED22_ENST00000343730.5_Silent_p.L82L			Q15528	MED22_HUMAN	mediator complex subunit 22	82					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GGAACTGCTTGAGGTCGGACA	0.637000													4	72					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975419	37975419	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:37975419G>A	ENST00000330173.1	+	5	1424	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	ZNF570_ENST00000388801.3_Missense_Mutation_p.E96K|ZNF570_ENST00000586475.1_Missense_Mutation_p.E355K	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGAGAAAAACCTTA	0.433000													5	83					0	0	1	0	0
POLR2I	5438	broad.mit.edu	37	19	36604919	36604919	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:36604919C>T	ENST00000221859.4	-	5	802	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	105					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCACTTACCTCGGCCCGCGCA	0.607000											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	74					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817335	69817335	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:69817335C>T	ENST00000251566.4	-	1	174	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	48						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATGGCCTCTCACTATGAGCT	0.468000													6	49					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320461	152320461	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:152320461A>C	ENST00000243326.5	+	29	4910	c.4427A>C	c.(4426-4428)gAg>gCg	p.E1476A	RIF1_ENST00000453091.2_Missense_Mutation_p.E1476A|RIF1_ENST00000430328.2_Missense_Mutation_p.E1476A|RIF1_ENST00000428287.2_Missense_Mutation_p.E1476A|RIF1_ENST00000444746.2_Missense_Mutation_p.E1476A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.E1476G(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTCTACAGGAGAATTTAATT	0.358000													9	25					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608387	4608387	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:4608387C>A	ENST00000312614.4	+	1	367	c.345C>A	c.(343-345)ttC>ttA	p.F115L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCATCTTCTGCTCAGGAG	0.512000													5	111					0.00116845	0.00120825	1	1	0
EIF2B4	8890	broad.mit.edu	37	2	27591268	27591268	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:27591268G>T	ENST00000493344.2	-	5	936	c.624C>A	c.(622-624)agC>agA	p.S208R	EIF2B4_ENST00000451130.2_Missense_Mutation_p.S207R|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S186R|EIF2B4_ENST00000347454.4_Missense_Mutation_p.S187R			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	187					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTTTGTCTGCTGTACTGGG	0.418000													4	50					0.00909568	0.009248	1	1	0
RNF219	79596	broad.mit.edu	37	13	79212999	79212999	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:79212999T>C	ENST00000282003.6	-	4	566	c.508A>G	c.(508-510)Atc>Gtc	p.I170V		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	170							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTTTCATAGATTTCATTAGCT	0.313000													19	30					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18516375	18516375	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:18516375G>A	ENST00000336714.3	+	12	1825	c.1393G>A	c.(1393-1395)Gtt>Att	p.V465I	SEC23B_ENST00000262544.2_Missense_Mutation_p.V465I|SEC23B_ENST00000377475.3_Missense_Mutation_p.V465I|SEC23B_ENST00000377465.1_Missense_Mutation_p.V465I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	465					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CTATTTTGAAGTTGTCAATCA	0.438000													6	24					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558461	53558461	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:53558461T>G	ENST00000371494.4	-	7	925		c.e7-2			NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7							integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGGAAATACCTGGGGGCGGCG	0.667000													3	40					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30974836	30974836	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:30974836G>C	ENST00000262519.8	+	5	1286	c.600G>C	c.(598-600)ctG>ctC	p.L200L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCAAGGCCCTGAGTGAGAAGT	0.567000													13	89					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19506967	19506967	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:19506967G>A	ENST00000338883.4	-	2	479	c.480C>T	c.(478-480)gcC>gcT	p.A160A		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	160							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGCAGTGTCGGCATCGGTGT	0.458000													4	55					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186943250	186943250	+	Missense_Mutation	SNP	C	C	T	rs148698841	by1000genomes	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:186943250C>T	ENST00000337774.5	-	13	1992	c.1603G>A	c.(1603-1605)Gtc>Atc	p.V535I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	535	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTGTGTTTGACGCCGAGATGC	0.532000													10	113					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769712	31769712	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:31769712C>T	ENST00000240587.4	-	2	1314	c.987G>A	c.(985-987)gaG>gaA	p.E329E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	329					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTGGGGAGCTCCAGCTCCA	0.537000													21	66					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467046	164467046	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:164467046G>T	ENST00000333129.3	-	3	1610	c.1296C>A	c.(1294-1296)gaC>gaA	p.D432E	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	432						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCCTGTGCTCGTCCCCATGCT	0.512000													3	61					1	1	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27282102	27282102	+	Missense_Mutation	SNP	G	G	A	rs145709465		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:27282102G>A	ENST00000360131.4	+	11	2078	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q	AGBL5_ENST00000323064.8_Missense_Mutation_p.R640Q	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	640					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCGGGCACGAAGTTTTAGC	0.537000													7	140					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926037	70926037	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:70926037G>A	ENST00000603540.1	+	2	2079	c.1821G>A	c.(1819-1821)gtG>gtA	p.V607V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V607V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	607	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGGTGAAGTGAAAGATGGTA	0.433000													6	59					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202211274	202211274	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:202211274C>G	ENST00000405148.2	-	5	802	c.359G>C	c.(358-360)aGa>aCa	p.R120T	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R120T|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R120T|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R120T|ALS2CR12_ENST00000448967.1_5'UTR	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	120					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CCTGGAAAATCTGCCTTTGTC	0.532000													15	46					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220198	41220198	+	Silent	SNP	C	C	T	rs77640959	byFrequency	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:41220198C>T	ENST00000324464.3	-	3	508	c.207G>A	c.(205-207)aaG>aaA	p.K69K	ADCK4_ENST00000450541.1_Silent_p.K69K|ADCK4_ENST00000243583.6_Silent_p.K69K	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	69						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCGGGGTGTCTTCCTGGGAC	0.637000													3	27					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205554035	205554035	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:205554035G>A	ENST00000367147.4	+	5	984	c.891G>A	c.(889-891)agG>agA	p.R297R	MFSD4_ENST00000539267.1_Silent_p.R297R|MFSD4_ENST00000536357.1_Silent_p.R210R	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	297					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTGCCAAAGGAAGAACCTCA	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	133					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66715737	66715737	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:66715737C>T	ENST00000247815.4	+	8	2224	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	722					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTTTATATTCTGCAGTTAAA	0.259000													10	8					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201758	135201758	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:135201758A>G	ENST00000372169.2	-	10	5409	c.5227T>C	c.(5227-5229)Tat>Cat	p.Y1743H	SETX_ENST00000224140.5_Missense_Mutation_p.Y1743H|SETX_ENST00000393220.1_Missense_Mutation_p.Y1743H			Q7Z333	SETX_HUMAN	senataxin	1743					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACATTAAAATAATCTCCATAA	0.358000													5	29					0	0	1	0	0
ADM	133	broad.mit.edu	37	11	10328161	10328161	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:10328161G>A	ENST00000528655.1	+	3	1148	c.531G>A	c.(529-531)ccG>ccA	p.P177P	ADM_ENST00000534464.1_Silent_p.P130P|ADM_ENST00000525063.1_Silent_p.P177P|ADM_ENST00000278175.5_Silent_p.P177P|ADM_ENST00000530439.1_Silent_p.P109P			P35318	ADML_HUMAN	adrenomedullin	177					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CAGCCCCCCCGAGTGGAAGTG	0.667000													3	23					0	0	1	0	0
PDRG1	81572	broad.mit.edu	37	20	30538125	30538125	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:30538125G>A	ENST00000202017.4	-	2	283	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	51					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAGGCTGAGATCCTTCT	0.502000													3	54					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290911	119290911	+	Missense_Mutation	SNP	G	G	A	rs11546392		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:119290911G>A	ENST00000284240.5	-	3	1262	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	THY1_ENST00000528522.1_Missense_Mutation_p.R75C|THY1_ENST00000580275.1_Missense_Mutation_p.R58C|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	75	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GTTCGGGAGCGGTATGTGTGC	0.542000													13	104					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090622	184090622	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:184090622C>G	ENST00000421442.2	-	6	624	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	THPO_ENST00000204615.7_Silent_p.L247L|THPO_ENST00000445696.2_Silent_p.L243L|EIF2B5_ENST00000444495.1_Intron			P40225	TPO_HUMAN	thrombopoietin	0					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTATCCTGTTCAGGTATCCGG	0.552000													5	78					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039158	49039158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:49039158G>T	ENST00000267163.4	+	22	2374	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	746	Domain B.|Pocket; binds T and E1A.		E -> G (in dbSNP:rs3092905).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.L743fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGATCAAAGAAGAGGAGTA	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			18	10					6.49762e-13	7.04461e-13	1	1	0
ATP5F1	515	broad.mit.edu	37	1	111992469	111992469	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:111992469G>A	ENST00000369722.3	+	2	657	c.51G>A	c.(49-51)ctG>ctA	p.L17L	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	17					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCCTCTCTGAAGAATGCAG	0.502000													18	39					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836564	47836564	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:47836564G>A	ENST00000359568.5	+	30	6839	c.6732G>A	c.(6730-6732)gtG>gtA	p.V2244V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2244					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCTCCCCGTGACACCCCACT	0.692000													7	54					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425770	88425770	+	Silent	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:88425770C>G	ENST00000393750.3	-	2	196	c.165G>C	c.(163-165)ggG>ggC	p.G55G	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.G55G			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	55					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCACTTTGGACCCAGCGGTGA	0.537000													10	277					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044920	43044920	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:43044920C>G	ENST00000267890.6	-	14	2632	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	842					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCATTATCTCATTATTTTTG	0.388000													22	35					0	0	1	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102046364	102046364	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:102046364C>T	ENST00000370372.2	-	1	105	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	18					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CCGGGTACCTCGGGCGGGCTC	0.716000													4	13					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43622527	43622527	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:43622527C>T	ENST00000305641.5	-	1	276	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	54					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTAGTAGCCTCGGTGAATGAG	0.706000													6	44					0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35742842	35742842	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:35742842A>C	ENST00000290310.3	+	2	205	c.65A>C	c.(64-66)tAt>tCt	p.Y22S		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2						blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TTTATTACTTATATGGACAAT	0.428000													6	108					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15956926	15956926	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:15956926A>G	ENST00000480945.1	+	3	546	c.375A>G	c.(373-375)atA>atG	p.I125M		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	125					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTGGAGAAATAACTTCATCTC	0.552000													4	68					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22055186	22055186	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:22055186C>A	ENST00000308271.9	-	11	1975	c.1327G>T	c.(1327-1329)Gat>Tat	p.D443Y	USP48_ENST00000529637.1_Missense_Mutation_p.D442Y|USP48_ENST00000421625.2_Missense_Mutation_p.D443Y|USP48_ENST00000400301.1_Missense_Mutation_p.D443Y	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	443					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTGGAATTATCCCGATCTACC	0.363000													4	54					1.23904e-05	1.29702e-05	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128393861	128393861	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:128393861C>T	ENST00000389524.4	+	44	6063	c.6010C>T	c.(6010-6012)Cgg>Tgg	p.R2004W	MYO7B_ENST00000409816.2_Missense_Mutation_p.R2003W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R856W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R2003W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2003	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGGATCTGCCGGTGGCCCAC	0.617000													19	27					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672099	100672099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:100672099C>T	ENST00000370132.4	-	9	1124	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGTTCAGTGGCGATGTCAAAT	0.428000													31	133					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36771587	36771587	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:36771587G>A	ENST00000280527.2	+	15	3059	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	898					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGTTGACCTGGAGGTTCCCCT	0.453000													4	40					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672506	43672506	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:43672506A>C	ENST00000372492.4	+	10	1982	c.1658A>C	c.(1657-1659)aAg>aCg	p.K553T	WDR65_ENST00000528956.1_Missense_Mutation_p.K553T	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	553										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGTGCTCAAGTCTTGCAGC	0.468000													6	72					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72072037	72072037	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:72072037G>C	ENST00000265381.4	-	7	1756	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	512	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCATTGGCTGAGATTCGCCT	0.488000													4	71					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7388152	7388152	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:7388152C>T	ENST00000322644.6	+	1	468	c.69C>T	c.(67-69)ttC>ttT	p.F23F	POLR2A_ENST00000572844.1_Silent_p.F23F	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	23					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGTCCAGTTCGGAGTCCTGA	0.716000													3	6					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536353	44536353	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:44536353G>A	ENST00000187879.8	+	4	688	c.526G>A	c.(526-528)Gat>Aat	p.D176N	ZNF222_ENST00000391960.3_Missense_Mutation_p.D216N|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTATAAGTGTGATGTGTGTGG	0.443000													11	118					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257772	9257772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:9257772G>T	ENST00000262126.4	+	9	4747	c.4507G>T	c.(4507-4509)Gaa>Taa	p.E1503*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1480*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E1480*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTCAGATGCTGAATCGATTTC	0.418000													3	47					0.004672	0.00478458	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67101697	67101697	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:67101697C>A	ENST00000371037.4	+	4	247	c.170C>A	c.(169-171)tCg>tAg	p.S57*	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	57					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAAAAAGTTTCGGTAAGGAAA	0.353000													3	15					0.115264	0.116083	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109382741	109382741	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:109382741C>G	ENST00000283195.6	+	20	5872	c.5746C>G	c.(5746-5748)Ctt>Gtt	p.L1916V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1916					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAAAAGCCTCTTGAAAATGG	0.413000													50	320					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41535933	41535933	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:41535933C>G	ENST00000334660.5	+	2	376	c.136C>G	c.(136-138)Ctc>Gtc	p.L46V	CHP1_ENST00000560397.1_Missense_Mutation_p.L46V|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	46	EF-hand 1.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										GAATGGGACTCTCAGGTAGGC	0.483000													7	15					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56956280	56956280	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:56956280G>T	ENST00000262031.5	+	2	241	c.146G>T	c.(145-147)gGa>gTa	p.G49V	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Missense_Mutation_p.G49V	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	49					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GGAAGCAATGGAAATGACCAG	0.498000													5	25					1.23904e-05	1.29702e-05	1	1	0
FAT3	120114	broad.mit.edu	37	11	92532201	92532201	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:92532201G>A	ENST00000298047.6	+	9	6039	c.6022G>A	c.(6022-6024)Gga>Aga	p.G2008R	FAT3_ENST00000409404.2_Missense_Mutation_p.G2008R|FAT3_ENST00000525166.1_Missense_Mutation_p.G1858R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2008	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGCAGTTGGAAATCGCCT	0.428000										TCGA Ovarian(4;0.039)			16	71					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44248882	44248882	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:44248882G>A	ENST00000262419.6	-	2	1098	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	KANSL1_ENST00000432791.1_Missense_Mutation_p.L210F|KANSL1_ENST00000575318.1_Missense_Mutation_p.L210F|KANSL1_ENST00000572904.1_Missense_Mutation_p.L210F|KANSL1_ENST00000574590.1_Missense_Mutation_p.L210F|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	210						MLL1 complex	protein binding										CTATGTGGAAGAGTGCAATTG	0.468000													8	193					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123355596	123355596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:123355596G>A	ENST00000267202.2	-	2	505	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	42					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TTGTTAAGCTGAACATTCTGT	0.517000													10	35					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79264243	79264243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:79264243G>A	ENST00000419573.3	-	27	3968	c.3694C>T	c.(3694-3696)Caa>Taa	p.Q1232*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q448*|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q1216*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1234	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGTTTGTTGAAACTGGCGA	0.478000													5	60					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23718358	23718358	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:23718358A>G	ENST00000256797.4	-	5	661	c.493T>C	c.(493-495)Tgc>Cgc	p.C165R	ERN2_ENST00000457008.2_Missense_Mutation_p.C117R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	117					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTGCGGCAGGGAGAGGCA	0.542000													5	25					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007781	110007781	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:110007781G>A	ENST00000453089.2	+	1	1203	c.322G>A	c.(322-324)Gac>Aac	p.D108N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D140N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D139N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	139							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AATTTTGCAAGACTTTAAACC	0.438000													9	22					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42836606	42836606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:42836606G>T	ENST00000405592.1	+	5	701	c.31G>T	c.(31-33)Gag>Tag	p.E11*	MTA3_ENST00000406652.1_Nonsense_Mutation_p.E11*|MTA3_ENST00000407270.3_Nonsense_Mutation_p.E67*|MTA3_ENST00000405094.1_Nonsense_Mutation_p.E67*|MTA3_ENST00000406911.1_Nonsense_Mutation_p.E67*	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	67	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AGAAGAAATTGAGGAAGAATC	0.318000													3	23					0.004672	0.00478458	1	1	0
PFKP	5214	broad.mit.edu	37	10	3149487	3149487	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:3149487G>A	ENST00000381075.2	+	10	1056	c.832G>A	c.(832-834)Gag>Aag	p.E278K	PFKP_ENST00000381125.4_Missense_Mutation_p.E286K	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	286					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CATCACCTCTGAGAAAATCAA	0.458000													6	55					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144912171	144912171	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:144912171C>T	ENST00000529945.1	-	11	3032	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E702K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E839K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E702K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E702K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E768K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E489K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E839K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E865K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E702K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	702					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGGTAACTTCAGCTTGTTGG	0.423000			T	PDGFRB	MPD								4	70					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147544	33147544	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:33147544C>T	ENST00000360668.3	+	4	969	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74C|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70C			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	p.R74C(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTGCAGGCGCCGCCTGCAGCT	0.627000													4	72					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798319	1798319	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:1798319G>C	ENST00000250894.4	+	7	1223	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E356Q|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	356					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CATGTGTCCAGAGACCCGCCT	0.592000													3	37					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192623	152192623	+	Silent	SNP	G	G	A	rs77355406		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:152192623G>A	ENST00000368801.2	-	3	1557	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	494					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)			ACCTAGAGCCGTGTTGTCCGT	0.542000													32	479					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197639602	197639602	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:197639602C>T	ENST00000265239.6	-	9	1331	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	IQCG_ENST00000455191.1_Missense_Mutation_p.E303K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	303										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GCCTCTTCTTCGGTTTTCATC	0.468000													12	144					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837967	29837967	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:29837967C>T	ENST00000354373.2	+	2	1019	c.810C>T	c.(808-810)ttC>ttT	p.F270F	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	270	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTATACATTCAGGAGTGTCT	0.463000													5	49					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44145133	44145133	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:44145133G>T	ENST00000398776.1	+	12	1430	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H	CAPN11_ENST00000542245.1_Missense_Mutation_p.Q464H	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	464	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGCTGCAGACCATTGGCT	0.587000													10	19					3.86212e-05	4.03293e-05	1	1	0
CCDC36	339834	broad.mit.edu	37	3	49293728	49293728	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:49293728G>A	ENST00000438782.1	+	8	1034	c.798G>A	c.(796-798)gtG>gtA	p.V266V	CCDC36_ENST00000296449.5_Silent_p.V266V|CCDC36_ENST00000452691.2_Silent_p.V266V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	266										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCTCCAGTGAAAGACAGTG	0.532000													7	25					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179274980	179274980	+	Silent	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:179274980G>T	ENST00000518219.1	-	3	224	c.213C>A	c.(211-213)ctC>ctA	p.L71L	C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000403396.2_Silent_p.L113L|C5orf45_ENST00000518235.1_Silent_p.L71L|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Silent_p.L71L|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000292586.6_Silent_p.L71L			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	71										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AACTGTACCTGAGTGGCAGCT	0.463000													15	84					1.3612e-06	1.44267e-06	1	1	0
NHLRC3	387921	broad.mit.edu	37	13	39621867	39621867	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:39621867C>T	ENST00000379600.3	+	7	1170	c.848C>T	c.(847-849)tCa>tTa	p.S283L	NHLRC3_ENST00000379599.2_Missense_Mutation_p.S216L|NHLRC3_ENST00000470258.1_Missense_Mutation_p.S86L	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	283						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)		AGCAGGCTCTCAGTCGTAGCA	0.453000													3	47					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104297	40104297	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:40104297C>G	ENST00000261435.6	+	4	1248	c.832C>G	c.(832-834)Caa>Gaa	p.Q278E		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	278						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CGTTGAGGCTCAATTCTCTGA	0.433000													10	43					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4806038	4806038	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:4806038C>T	ENST00000293780.4	-	2	77	c.67G>A	c.(67-69)Gag>Aag	p.E23K	C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	23					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CGCAGTTCCTCGTTCTTCCCC	0.582000													8	81					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472070	77472070	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:77472070C>G	ENST00000560626.2	-	4	2674	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	PEAK1_ENST00000312493.4_Missense_Mutation_p.K733N|PEAK1_ENST00000558305.1_Missense_Mutation_p.K733N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	733					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCTCTGGATCTTTGCTGGGG	0.522000													8	58					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84292052	84292052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:84292052G>A	ENST00000428679.2	-	23	2631	c.2038C>T	c.(2038-2040)Cct>Tct	p.P680S	SNAP91_ENST00000437520.1_Missense_Mutation_p.P373S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P680S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P680S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P680S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P373S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P680S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P650S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P680S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	680					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GATGGGGAAGGCGCCATGAAA	0.433000													3	24					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39680172	39680172	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:39680172G>A	ENST00000361566.3	-	6	1086	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CAATACCGCTGATCAGCGCCT	0.602000													7	57					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63856332	63856332	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:63856332G>C	ENST00000337537.3	-	11	1674	c.1072C>G	c.(1072-1074)Cag>Gag	p.Q358E	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Q358E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.Q282E|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	358					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACTAACCTGAAAATGGGGG	0.358000													7	27					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168787	36168787	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:36168787C>T	ENST00000357641.6	+	2	941	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	BRPF3_ENST00000543502.1_Missense_Mutation_p.L230F|BRPF3_ENST00000443324.2_Missense_Mutation_p.L230F|BRPF3_ENST00000534400.1_Missense_Mutation_p.L230F|BRPF3_ENST00000534694.1_Missense_Mutation_p.L230F|BRPF3_ENST00000339717.7_Missense_Mutation_p.L230F	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	230					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAATGTTATTCTCTTCTGTGA	0.542000													3	43					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599967	70599967	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:70599967G>C	ENST00000310613.3	-	5	688	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTGGCATTACGAGCCAGATAA	0.353000													3	21					0	0	1	0	0
RRS1	23212	broad.mit.edu	37	8	67341396	67341396	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:67341396C>T	ENST00000320270.2	+	1	134	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	10					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGGAGCTGCTCGCAAAGGCAG	0.617000											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400237	89400237	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:89400237G>A	ENST00000439576.2	+	12	4795	c.4421G>A	c.(4420-4422)gGa>gAa	p.G1474E	ACAN_ENST00000559004.1_Missense_Mutation_p.G1474E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1474E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1474E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1474					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)			CCTTCTGGAGGAGAAGTTCTA	0.517000													14	89					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150912711	150912711	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:150912711G>A	ENST00000287844.2	-	13	1618	c.1509C>T	c.(1507-1509)taC>taT	p.Y503Y	ABCF2_ENST00000222388.2_Silent_p.Y503Y	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	503	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	p.Y503*(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGAGACCGTATCGCCCAA	0.517000													16	148					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041193	65041193	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:65041193A>T	ENST00000298705.1	+	8	650	c.554A>T	c.(553-555)gAa>gTa	p.E185V	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	185																	GAGAAAAAAGAAATGGAATTG	0.408000													8	51					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13342574	13342574	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:13342574C>T	ENST00000360228.5	-	35	5349	c.5350G>A	c.(5350-5352)Gaa>Aaa	p.E1784K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1785K|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1785					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TAAGCAAATTCATTGCCACAC	0.517000													3	25					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74432988	74432988	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:74432988C>T	ENST00000394053.2	+	2	338	c.258C>T	c.(256-258)ctC>ctT	p.L86L	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Silent_p.L86L|MTHFD2_ENST00000409601.1_Silent_p.L86L|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	86					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCTATGTCCTCAACAAAACCA	0.512000													21	70					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151001264	151001264	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:151001264C>T	ENST00000271620.3	+	7	933	c.777C>T	c.(775-777)gcC>gcT	p.A259A	PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368936.1_Silent_p.A77A|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	259						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			CCTTTCAGGCCTTTCTGCAGA	0.488000													9	137					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7625319	7625319	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:7625319G>C	ENST00000340080.4	+	7	2122	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	MIOS_ENST00000405785.1_Missense_Mutation_p.E567D	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	567										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATACGGATGAGAAGAACTCCC	0.388000													6	83					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134493443	134493443	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:134493443G>T	ENST00000367858.5	-	10	1556	c.959C>A	c.(958-960)cCa>cAa	p.P320Q	SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000237305.7_Missense_Mutation_p.P225Q|SGK1_ENST00000528577.1_Missense_Mutation_p.P253Q|SGK1_ENST00000413996.3_Missense_Mutation_p.P239Q|SGK1_ENST00000475719.2_Missense_Mutation_p.P181Q|SGK1_ENST00000367857.5_Missense_Mutation_p.P215Q	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	225	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AATATTCTCTGGTTTTAAGTC	0.358000													9	39					3.07112e-06	3.24683e-06	1	1	0
IFT122	55764	broad.mit.edu	37	3	129221706	129221706	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:129221706A>G	ENST00000296266.3	+	21	2873	c.2681A>G	c.(2680-2682)gAg>gGg	p.E894G	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.E719G|IFT122_ENST00000347300.2_Missense_Mutation_p.E784G|IFT122_ENST00000348417.2_Missense_Mutation_p.E843G|IFT122_ENST00000431818.2_Missense_Mutation_p.E693G|IFT122_ENST00000349441.2_Missense_Mutation_p.E732G|IFT122_ENST00000507564.1_Missense_Mutation_p.E835G|IFT122_ENST00000440957.2_Missense_Mutation_p.E634G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	843					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGCACGTGGAGACCCAGCGC	0.642000													3	40					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4410337	4410337	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:4410337C>T	ENST00000251166.4	-	21	2195	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G684R|CORO7_ENST00000537233.2_Missense_Mutation_p.G666R|CORO7_ENST00000539968.1_Missense_Mutation_p.G464R|CORO7_ENST00000574025.1_Missense_Mutation_p.G599R	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ATGCGAGCTCCGCGTCCTCCC	0.622000													4	18					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197687151	197687151	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:197687151C>T	ENST00000330198.4	+	1	81	c.59C>T	c.(58-60)tCg>tTg	p.S20L	LMLN_ENST00000332636.5_Silent_p.L8L|LMLN_ENST00000420910.2_Missense_Mutation_p.S20L|LMLN_ENST00000482695.1_Silent_p.L8L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	20					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGGGTTACTCGGGCTCAGGC	0.721000													7	31					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96858545	96858545	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:96858545G>A	ENST00000267584.4	+	1	98	c.54G>A	c.(52-54)caG>caA	p.Q18Q	AK7_ENST00000555570.1_Silent_p.Q18Q	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	18					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCCGGACCCAGAGGGTGTTTA	0.602000													18	31					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950440	110950440	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:110950440T>G	ENST00000256644.4	-	1	124	c.49A>C	c.(49-51)Agc>Cgc	p.S17R	LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		TGACGAAGGCTTGGGCTCCCC	0.622000													5	24					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515333	140515333	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:140515333T>G	ENST00000231134.5	+	1	534	c.317T>G	c.(316-318)tTc>tGc	p.F106C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		106	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATTGCATTTCCAGCTCTTA	0.448000													41	27					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253063	55253063	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:55253063A>G	ENST00000381298.2	-	9	1342	c.1030T>C	c.(1030-1032)Tac>Cac	p.Y344H	IL6ST_ENST00000336909.5_Missense_Mutation_p.Y344H|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y344H|IL6ST_ENST00000381294.3_Missense_Mutation_p.Y344H|IL6ST_ENST00000522633.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	344	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACAGTTCTGTAGCCTTGAGTA	0.313000			O		hepatocellular ca								4	37					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141598251	141598251	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:141598251G>C	ENST00000442267.2	-	6	930	c.856C>G	c.(856-858)Ctt>Gtt	p.L286V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	286						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCATCAAGATCACTGGAA	0.448000													6	71					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4359211	4359211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:4359211G>T	ENST00000599840.1	+	12	1413	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*	MPND_ENST00000262966.8_Nonsense_Mutation_p.E430*|MPND_ENST00000359935.4_Nonsense_Mutation_p.E410*			Q8N594	MPND_HUMAN	MPN domain containing	430							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCTCCAGGAACCCTGGAG	0.632000													8	30					5.18039e-06	5.46319e-06	1	1	0
ANKRD45	339416	broad.mit.edu	37	1	173628300	173628300	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:173628300C>T	ENST00000333279.2	-	2	318	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	102										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTGCCCAGCCATGCAAGCTG	0.403000													4	78					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52498480	52498480	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:52498480C>T	ENST00000371614.1	-	1	1008	c.954G>A	c.(952-954)ctG>ctA	p.L318L	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	318							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GAAGGCGACTCAGTTCTGCCA	0.527000													5	64					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202565968	202565968	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:202565968C>T	ENST00000367267.1	-	9	1369	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	SYT2_ENST00000367268.4_Missense_Mutation_p.A393T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	393					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CGGGGGTTGGCCAGCATGTCG	0.622000													8	40					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729538	74729538	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:74729538T>C	ENST00000308807.7	-	2	581	c.118A>G	c.(118-120)Aag>Gag	p.K40E	MLKL_ENST00000306247.7_Missense_Mutation_p.K40E	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	40							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCAGAGGCTTGATCAGGCCG	0.562000													6	34					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21462760	21462760	+	Translation_Start_Site	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:21462760C>T	ENST00000417816.2	-	1	356	c.3G>A	c.(1-3)atG>atA	p.M1I	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTGGGGGTTCATGATCGCGG	0.716000													4	20					0	0	1	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780590	106780590	+	RNA	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:106780590C>T	ENST00000390612.2	-	0	345																											TTGGACGTGTCTACTGACATG	0.557000													18	239					0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108005920	108005920	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:108005920G>A	ENST00000265838.4	+	5	477	c.386G>A	c.(385-387)gGa>gAa	p.G129E	ACAT1_ENST00000299355.6_Missense_Mutation_p.G129E	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	129					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGTGCTTCAGGAATGAAAGCC	0.383000													5	79					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447572	74447572	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:74447572G>A	ENST00000339953.5	-	4	580	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	153	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGGCCCACACGAGCTACAGGA	0.607000													12	42					0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28065998	28065998	+	Silent	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:28065998G>T	ENST00000302188.3	-	5	1202	c.450C>A	c.(448-450)gtC>gtA	p.V150V	RBKS_ENST00000444339.2_Silent_p.V150V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	150					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CGAGCTGGCAGACCATGACTT	0.438000													11	87					9.31168e-06	9.7957e-06	1	1	0
C15orf38	348110	broad.mit.edu	37	15	90446523	90446523	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:90446523G>A	ENST00000357484.5	-	5	717	c.597C>T	c.(595-597)atC>atT	p.I199I	C15orf38_ENST00000460685.1_Silent_p.I103I|C15orf38-AP3S2_ENST00000398333.3_Silent_p.I199I|C15orf38-AP3S2_ENST00000560224.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTTGGGCCATGATGTTGTCTG	0.537000													10	72					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562780	154562780	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:154562780C>G	ENST00000368474.4	-	7	2575	c.2376G>C	c.(2374-2376)ttG>ttC	p.L792F	ADAR_ENST00000368471.3_Missense_Mutation_p.L497F|ADAR_ENST00000292205.5_Missense_Mutation_p.L835F	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	792	DRBM 3.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCCCCAATCAAGACACGGA	0.562000													8	57					0	0	1	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107237	27107237	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:27107237C>T	ENST00000354348.2	+	1	162	c.150C>T	c.(148-150)ctC>ctT	p.L50L	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						TTTCTGGCCTCATCTATGAGG	0.637000			T	BCL6	NHL								11	60					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104187278	104187278	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:104187278G>C	ENST00000374855.4	-	8	970	c.846C>G	c.(844-846)ctC>ctG	p.L282L		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	282					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CATTGAGGTTGAGAGTGGCAT	0.512000													3	43					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028452	142028452	+	RNA	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:142028452G>T	ENST00000390353.2	+	0	243																											GCATGGGACTGAGGCTGATTT	0.493000													6	159					0.0215528	0.0218614	1	1	0
TRIP11	9321	broad.mit.edu	37	14	92471670	92471670	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:92471670C>T	ENST00000267622.4	-	11	3023	c.2650G>A	c.(2650-2652)Gac>Aac	p.D884N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	884			D -> G (in dbSNP:rs34967261).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTTTTAGGGTCAGCCACAGGT	0.418000			T	PDGFRB	AML								5	59					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156339062	156339062	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:156339062G>A	ENST00000368249.1	+	1	60	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.A8T|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000537040.1_Missense_Mutation_p.A8T	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	8					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCTAGCCGCGCCGCGGGCCG	0.667000													4	66					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109373225	109373225	+	Silent	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:109373225C>G	ENST00000370001.3	-	10	2062	c.1794G>C	c.(1792-1794)acG>acC	p.T598T	AKNAD1_ENST00000369994.1_Silent_p.T568T|AKNAD1_ENST00000369995.3_Silent_p.T598T|AKNAD1_ENST00000357393.4_Silent_p.T305T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	598										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GACTGGGTGCCGTCATCTCTG	0.567000													3	21					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30770756	30770756	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:30770756G>C	ENST00000543610.1	-	6	1525	c.564C>G	c.(562-564)ctC>ctG	p.L188L	C16orf93_ENST00000541260.1_Silent_p.L253L|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	188										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCTCTTTGAAGAGGTCGATGC	0.542000													5	55					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962831	12962831	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:12962831G>A	ENST00000251472.4	+	8	897	c.858G>A	c.(856-858)gcG>gcA	p.A286A	MAST1_ENST00000591495.1_Silent_p.A282A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	286					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACGCCCTGCGAGGCTGCTGG	0.607000													6	31					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182034	140182034	+	Missense_Mutation	SNP	G	G	A	rs149312681	byFrequency	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:140182034G>A	ENST00000522353.2	+	1	1252	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V418M|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAGCGTGTCGGCCTA	0.637000													39	121					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271444	17271444	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:17271444C>T	ENST00000544301.1	+	2	436	c.23C>T	c.(22-24)tCg>tTg	p.S8L	VIM_ENST00000485947.1_3'UTR|VIM_ENST00000224237.5_Missense_Mutation_p.S8L|VIM-AS1_ENST00000605833.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	8	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGTGTCCTCGTCCTCCTAC	0.731000													5	17					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144107020	144107020	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:144107020G>A	ENST00000307017.4	+	1	923	c.417G>A	c.(415-417)ccG>ccA	p.P139P	USP38_ENST00000510377.1_Silent_p.P139P	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	139					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTGAGAGGCCGGAGCCGCAGC	0.552000													12	36					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44920639	44920639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:44920639G>A	ENST00000377967.4	+	14	1441	c.1400G>A	c.(1399-1401)tGg>tAg	p.W467*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W474*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W422*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W422*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	467					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCTCATTCATGGTGTTTGACA	0.323000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	3					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51757070	51757070	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:51757070A>G	ENST00000251076.5	-	32	7894	c.7607T>C	c.(7606-7608)cTg>cCg	p.L2536P	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1900P|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2537P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2536						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTTACAGGCAGCTCTACAAG	0.348000													13	32					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953555	32953555	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:32953555C>T	ENST00000321639.5	+	2	805	c.477C>T	c.(475-477)acC>acT	p.T159T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	159						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCGGCGTCACCGAGCGGCTGC	0.706000													4	23					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618222	156618222	+	Missense_Mutation	SNP	G	G	A	rs148621325	byFrequency	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:156618222G>A	ENST00000296518.7	+	3	412	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R68Q|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R68Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R68Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R68Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R68Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	68					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTCGGAGCCGAGTCTATCTT	0.423000													4	52					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342707	47342707	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:47342707C>T	ENST00000398879.1	-	22	3664	c.3298G>A	c.(3298-3300)Gag>Aag	p.E1100K	TNS3_ENST00000355730.3_Missense_Mutation_p.E860K|TNS3_ENST00000311160.9_Missense_Mutation_p.E1100K			Q68CZ2	TENS3_HUMAN	tensin 3	1100						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGCTTCTTCTCAGGGAGGGGT	0.662000													4	23					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310118	79310118	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:79310118G>A	ENST00000419573.3	-	12	2011	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I579I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	579	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACCTGGCTGATGTCACTGG	0.572000													8	32					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18513178	18513178	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:18513178G>C	ENST00000440756.2	-	10	2298	c.2196C>G	c.(2194-2196)atC>atG	p.I732M	PSD3_ENST00000286485.8_Missense_Mutation_p.I196M|PSD3_ENST00000327040.8_Missense_Mutation_p.I730M|PSD3_ENST00000523619.1_Missense_Mutation_p.I665M|PSD3_ENST00000428502.2_Missense_Mutation_p.I59M			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	731	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTCATTCTTGATTGAGTTGT	0.373000													7	38					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155722019	155722019	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:155722019C>T	ENST00000437809.1	-	30	6324	c.6202G>A	c.(6202-6204)Ggg>Agg	p.G2068R	GON4L_ENST00000368331.1_Missense_Mutation_p.G2069R|GON4L_ENST00000271883.5_Missense_Mutation_p.G2068R	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2069					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.G2068R(1)|p.G2069R(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTGGTTTCCCGGACACATGT	0.522000													7	66					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417410	29417410	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:29417410G>A	ENST00000378993.1	+	5	1361	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E230K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	230	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGAACTACTGAATTAACTGT	0.308000													3	23					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520004	131520004	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:131520004C>T	ENST00000423981.1	+	2	469	c.359C>T	c.(358-360)tCc>tTc	p.S120F	AMER3_ENST00000321420.4_Missense_Mutation_p.S120F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TTCCCGGGCTCCCCGGGCAGC	0.642000													3	30					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539548	111539548	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:111539548T>C	ENST00000394595.3	-	4	736	c.481A>G	c.(481-483)Agc>Ggc	p.S161G	PITX2_ENST00000355080.5_Silent_p.S183S|PITX2_ENST00000394598.2_Silent_p.S229S|PITX2_ENST00000306732.3_Silent_p.S236S|PITX2_ENST00000354925.2_Silent_p.S229S			Q99697	PITX2_HUMAN	paired-like homeodomain 2	0					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGTCACTGCTGAGGGCACCA	0.562000													3	45					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101503815	101503815	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:101503815T>G	ENST00000370476.5	+	5	554	c.425T>G	c.(424-426)gTc>gGc	p.V142G		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	142					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCTCTGCCAGTCACTTTCCAC	0.348000													4	31					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739688	21739688	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:21739688C>T	ENST00000399496.3	+	5	959	c.794C>T	c.(793-795)tCa>tTa	p.S265L	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.S265L|CABYR_ENST00000581397.1_Missense_Mutation_p.S265L|CABYR_ENST00000327201.6_Missense_Mutation_p.S167L|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TTAGTAGGCTCAAATGTTCAG	0.468000													4	28					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110445954	110445954	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:110445954T>C	ENST00000506538.2	+	13	2134	c.1561T>C	c.(1561-1563)Tat>Cat	p.Y521H	WDR36_ENST00000513710.2_Missense_Mutation_p.Y521H|WDR36_ENST00000505303.1_Missense_Mutation_p.Y465H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	521					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGTAGATGTATATAACATGCA	0.338000													5	61					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85553672	85553672	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:85553672G>C	ENST00000377386.3	-	2	1645	c.1183C>G	c.(1183-1185)Ctt>Gtt	p.L395V	TGOLN2_ENST00000282120.2_Missense_Mutation_p.L239V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.L337V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.L395V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.L395V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.L395V			O43493	TGON2_HUMAN	trans-golgi network protein 2	395						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										ACAGCCACAAGAATGGCTGCA	0.557000													5	83					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172285	38172285	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:38172285C>G	ENST00000317025.8	-	12	2639	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E708Q|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E708Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	708					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCAGAGCTTTCACAAATCTGT	0.468000			T	NUP98	AML								4	9					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76255006	76255006	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:76255006G>C	ENST00000319942.3	+	3	345	c.274G>C	c.(274-276)Gat>Cat	p.D92H	RABGGTB_ENST00000370826.3_Missense_Mutation_p.D92H|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	92					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TATCGGACATGATCCTCATCT	0.373000													5	54					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839976	40839976	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:40839976G>A	ENST00000264638.4	+	8	1500	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	428	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGAGCGGCCGAAAGAAGCTT	0.607000													6	59					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044531	43044531	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:43044531C>G	ENST00000267890.6	-	14	3021	c.2913G>C	c.(2911-2913)aaG>aaC	p.K971N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	971					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GATAGGCTTTCTTTTGGAGGA	0.438000													35	52					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27717245	27717245	+	Silent	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:27717245G>T	ENST00000264703.3	-	3	613	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	74	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCCAATGACGATGTTGCCTT	0.567000													4	19					0.00909568	0.009248	1	1	0
FOXR2	139628	broad.mit.edu	37	X	55650514	55650514	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:55650514G>A	ENST00000339140.3	+	1	682	c.370G>A	c.(370-372)Gag>Aag	p.E124K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	124					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAACTGCTCAGAGGACAAAGT	0.517000													4	21					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129129	68129129	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:68129129C>T	ENST00000585558.1	+	4	1394	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	KCNJ16_ENST00000586462.1_Missense_Mutation_p.P340S|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P301S|KCNJ16_ENST00000589377.1_Missense_Mutation_p.P301S|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P301S|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P301S			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	301					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTCCTATGTTCCCCGAGAAAT	0.408000													34	71					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598451	68598451	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:68598451G>A	ENST00000570495.1	+	5	2053	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G	ZFP90_ENST00000398253.2_Silent_p.G587G|ZFP90_ENST00000563169.2_Silent_p.G587G			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	587					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTGGGAGAGCCTTCC	0.403000													7	90					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113897470	113897470	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:113897470G>A	ENST00000451881.1	+	11	1173	c.924G>A	c.(922-924)ctG>ctA	p.L308L	CUL4A_ENST00000375441.3_Silent_p.L308L|CUL4A_ENST00000375440.4_Silent_p.L408L|CUL4A_ENST00000326335.4_Silent_p.L308L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	408					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTGCAGAACTGATCGGTAGAA	0.383000													8	92					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043890	7043890	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:7043890C>T	ENST00000310085.4	-	1	838	c.776G>A	c.(775-777)aGa>aAa	p.R259K	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	259										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GCCCTTCTTTCTGCGCAGCGC	0.652000													10	53					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150061800	150061800	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:150061800C>T	ENST00000409642.3	+	4	512	c.111C>T	c.(109-111)gtC>gtT	p.V37V	LYPD6B_ENST00000409029.1_Silent_p.V13V|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.V37V|LYPD6B_ENST00000409876.1_Silent_p.V13V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	13						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACACAAGGTCAGCATGCTGC	0.438000													5	58					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474216	73474216	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:73474216G>A	ENST00000358929.4	+	24	1611	c.1520G>A	c.(1519-1521)gGg>gAg	p.G507E	ELN_ENST00000380576.5_Splice_Site_p.G453E|ELN_ENST00000429192.1_Splice_Site_p.G458E|ELN_ENST00000320399.6_Splice_Site_p.G472E|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Splice_Site_p.G448E|ELN_ENST00000445912.1_Splice_Site_p.G472E|ELN_ENST00000320492.7_Splice_Site_p.G391E|ELN_ENST00000380553.4_Splice_Site_p.G336E|ELN_ENST00000380575.4_Splice_Site_p.G443E|ELN_ENST00000380562.4_Missense_Mutation_p.G478E|ELN_ENST00000380584.4_Splice_Site_p.G439E|ELN_ENST00000458204.1_Splice_Site_p.G462E|ELN_ENST00000252034.7_Splice_Site_p.G472E|ELN_ENST00000357036.5_Splice_Site_p.G477E	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	501	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AATCTTGCAGGGTTAGTTCCT	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						27	127					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358786	6358786	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:6358786C>T	ENST00000262483.8	-	20	2884	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.D897N	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCGGGCGGGTCGGGCTGCTGC	0.716000													8	13					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8233800	8233800	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:8233800C>T	ENST00000520004.1	-	3	2383	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	SGK223_ENST00000330777.4_Missense_Mutation_p.E707K			Q86YV5	SG223_HUMAN		707							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGAATGTCTCAATCCCACTT	0.557000													9	36					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66513652	66513652	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:66513652G>A	ENST00000360242.5	+	4	1047	c.930G>A	c.(928-930)gtG>gtA	p.V310V	CCDC102B_ENST00000319445.6_Silent_p.V310V|CCDC102B_ENST00000584156.1_Silent_p.V310V|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Intron	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	310										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CAAAAAATGTGAAAGAGGTAT	0.403000													7	32					0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8022891	8022891	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:8022891G>A	ENST00000493678.1	+	2	113	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.E16K|PARK7_ENST00000338639.5_Missense_Mutation_p.E16K|PARK7_ENST00000377493.5_Missense_Mutation_p.E16K|PARK7_ENST00000377491.1_Missense_Mutation_p.E16K			Q99497	PARK7_HUMAN	parkinson protein 7	16					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCAGAGGAAATGGAGAC	0.363000													4	26					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56649311	56649311	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:56649311C>G	ENST00000389934.3	-	25	3925	c.3808G>C	c.(3808-3810)Gaa>Caa	p.E1270Q	TEX14_ENST00000240361.8_Missense_Mutation_p.E1276Q|TEX14_ENST00000349033.5_Missense_Mutation_p.E1230Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1276						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGGAGTTTCAGAGGAAGTA	0.438000													10	79					0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122658442	122658442	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:122658442T>C	ENST00000377035.1	-	2	140	c.114A>G	c.(112-114)gtA>gtG	p.V38V		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	38						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTATTTTCTGTACATCATCAC	0.478000													7	35					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176437	111176437	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:111176437G>A	ENST00000267328.3	-	2	493	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	94					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCAGGAACCGGTCCTCCAGC	0.637000													4	81					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40478196	40478196	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:40478196C>T	ENST00000264657.5	-	15	1615	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	STAT3_ENST00000585517.1_Missense_Mutation_p.E435K|STAT3_ENST00000389272.3_Missense_Mutation_p.E337K|STAT3_ENST00000588969.1_Missense_Mutation_p.E435K|STAT3_ENST00000404395.3_Missense_Mutation_p.E435K	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	435					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGGTGCAGCTCCTCAGTCACA	0.532000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	56					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085327	92085327	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:92085327T>C	ENST00000298047.6	+	1	66	c.49T>C	c.(49-51)Tgc>Cgc	p.C17R	FAT3_ENST00000409404.2_Missense_Mutation_p.C17R|FAT3_ENST00000541502.1_Missense_Mutation_p.C17R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	17					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTGCTTGTTGCCTCATCCT	0.493000										TCGA Ovarian(4;0.039)			4	18					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26892427	26892427	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:26892427G>A	ENST00000333916.5	-	1	375	c.287C>T	c.(286-288)tCg>tTg	p.S96L	CAAP1_ENST00000520187.1_Missense_Mutation_p.S96L|CAAP1_ENST00000495958.1_5'UTR	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	96																	CAAGGAGCCCGAGACGCTGGA	0.692000													3	10					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342517	60342517	+	RNA	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:60342517C>G	ENST00000581291.1	-	0	1636																				breast(2)|kidney(1)|lung(2)	5						ACTGCAGGGCCGGGAAGTCCA	0.652000													7	175					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912364	26912364	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:26912364T>A	ENST00000321765.5	-	9	2258	c.1926A>T	c.(1924-1926)caA>caT	p.Q642H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	642	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCAGTCTTGTTGCAAGGTAG	0.468000													4	66					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356558	48356558	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:48356558G>A	ENST00000300433.3	+	6	479	c.369G>A	c.(367-369)gtG>gtA	p.V123V	TMEM92_ENST00000507382.1_Silent_p.V123V	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	123	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCCTGCAGGTGATTCTGAAGC	0.607000													8	144					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95519296	95519296	+	RNA	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:95519296G>A	ENST00000432432.2	-	0	417					NR_040113.1																						TATCAAAGGCGTTCTGTTTTC	0.373000													6	279					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26879984	26879984	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:26879984G>A	ENST00000374168.2	+	7	725	c.571G>A	c.(571-573)Gag>Aag	p.E191K	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E200K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E99K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E99K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E191K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E175K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	191	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTCAAGCCTGAGAAGTGAGT	0.587000													5	67					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41816244	41816244	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:41816244C>G	ENST00000269967.3	+	1	151	c.29C>G	c.(28-30)gCg>gGg	p.A10G		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	10										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGACGGCGGCGAAGGAACCC	0.647000													3	7					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135926277	135926277	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:135926277C>G	ENST00000264158.8	+	24	2915	c.2872C>G	c.(2872-2874)Cgg>Ggg	p.R958G	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R914G|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R965G|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	958						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCTGCCTCAGCGGATGTACAG	0.532000													6	44					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148693080	148693080	+	Nonstop_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:148693080C>G	ENST00000392857.5	-	14	1417	c.1310G>C	c.(1309-1311)tGa>tCa	p.*437S	ORC4_ENST00000264169.2_Nonstop_Mutation_p.*437S|ORC4_ENST00000392858.1_Nonstop_Mutation_p.*437S|ORC4_ENST00000535373.1_Nonstop_Mutation_p.*437S|ORC4_ENST00000542387.1_Nonstop_Mutation_p.*220S|ORC4_ENST00000540442.1_Nonstop_Mutation_p.*363S|ORC4_ENST00000536575.1_Nonstop_Mutation_p.*353S	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TGGTTATATTCATAACCAGCT	0.368000													6	62					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126085447	126085447	+	Silent	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:126085447C>G	ENST00000318410.7	-	9	1447	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	KIAA0196_ENST00000517845.1_Silent_p.L218L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	366					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGCAGTCTCTCAGGCAGTTCA	0.443000													4	58					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204234079	204234079	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:204234079G>T	ENST00000272203.3	-	6	688	c.372C>A	c.(370-372)caC>caA	p.H124Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.H124Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	124	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCTTAAACGTGTGTTTCCGGC	0.587000													38	122					2.20914e-33	2.40124e-33	1	1	0
DST	667	broad.mit.edu	37	6	56492946	56492946	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:56492946C>T	ENST00000370754.5	-	32	4389	c.4390G>A	c.(4390-4392)Gag>Aag	p.E1464K	DST_ENST00000361203.3_Missense_Mutation_p.E1286K|DST_ENST00000370765.6_Missense_Mutation_p.E960K|DST_ENST00000312431.6_Missense_Mutation_p.E1286K|DST_ENST00000421834.2_Missense_Mutation_p.E1286K|DST_ENST00000370769.4_Missense_Mutation_p.E1286K|DST_ENST00000446842.2_Missense_Mutation_p.E960K|DST_ENST00000518935.1_Missense_Mutation_p.E960K|DST_ENST00000244364.6_Missense_Mutation_p.E960K|DST_ENST00000370788.2_Missense_Mutation_p.E1286K			Q03001	DYST_HUMAN	dystonin	1286					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAATGCCCTCTAAGTCCCGT	0.428000													4	37					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42729493	42729493	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:42729493C>G	ENST00000263805.4	-	10	4940	c.4614G>C	c.(4612-4614)caG>caC	p.Q1538H	ZNF106_ENST00000565380.1_Missense_Mutation_p.Q766H|ZNF106_ENST00000565611.1_Missense_Mutation_p.Q723H	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		TCCCAAATATCTGAATTGCAT	0.398000													7	79					0	0	1	0	0
NDUFA4	4697	broad.mit.edu	37	7	10979655	10979655	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:10979655C>T	ENST00000339600.5	-	1	228	c.30G>A	c.(28-30)aaG>aaA	p.K10K	NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	10					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	TCGGATGCTTCTTGGCCTGAC	0.542000													5	102					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411603	105411603	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:105411603C>T	ENST00000333244.5	-	7	10304	c.10185G>A	c.(10183-10185)gaG>gaA	p.E3395E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3395						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AACTGGGCATCTCCACCTTGG	0.632000													24	268					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660263	17660263	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:17660263G>C	ENST00000335393.4	+	15	1908	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	FAM129C_ENST00000352727.3_Missense_Mutation_p.K554N|FAM129C_ENST00000332386.5_Missense_Mutation_p.K590N|FAM129C_ENST00000599164.1_Missense_Mutation_p.K559N|FAM129C_ENST00000599124.1_Missense_Mutation_p.K523N|FAM129C_ENST00000595684.1_Missense_Mutation_p.K590N|FAM129C_ENST00000601861.1_Missense_Mutation_p.K559N|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000449408.2_Missense_Mutation_p.K316N	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	590										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AATTGAAAAAGACCCTTGGTG	0.522000													11	89					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750707	76750707	+	Silent	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:76750707C>A	ENST00000533140.1	+	2	250	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	B3GNT6_ENST00000354301.5_Silent_p.R38R|B3GNT6_ENST00000421061.1_Intron			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	38					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						AAGGTCCCCGCGGGAGGAGAG	0.711000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0.0477658	0.0483344	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37771338	37771338	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:37771338C>T	ENST00000402918.2	-	3	1022	c.237G>A	c.(235-237)ggG>ggA	p.G79G	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGTGAGGTTCCCAAAGCGGT	0.592000													4	38					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38057104	38057104	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:38057104G>A	ENST00000328550.2	-	4	325	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R76C|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R76C|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R76C|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTTGATACGTTTCCCCATA	0.408000													4	72					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45132747	45132747	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:45132747G>A	ENST00000403581.1	+	10	1465	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.V263M|PRR5_ENST00000006251.7_Missense_Mutation_p.V254M|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCTGAACCCCGTGCAGGAGCA	0.692000													6	33					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61906366	61906366	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:61906366G>C	ENST00000394818.3	+	7	1382	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	INCENP_ENST00000278849.4_Missense_Mutation_p.E394Q	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	394					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGGTCCCTGAGAACAATGG	0.592000													8	127					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594414	156594414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:156594414G>A	ENST00000255039.1	+	6	985	c.578G>A	c.(577-579)tGg>tAg	p.W193*	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	193	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTGGACTGGTGTAACGCG	0.716000													3	19					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91075644	91075644	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:91075644C>T	ENST00000265431.3	-	7	677	c.496G>A	c.(496-498)Gag>Aag	p.E166K	CALB1_ENST00000518457.1_Missense_Mutation_p.E109K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	166	EF-hand 4.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTGGCCATCTCAGTTAATTCC	0.303000													7	78					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979749	49979749	+	Missense_Mutation	SNP	G	G	C	rs143173973		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:49979749G>C	ENST00000595510.1	+	4	323	c.22G>C	c.(22-24)Gct>Cct	p.A8P	FLT3LG_ENST00000600429.1_Missense_Mutation_p.A90P|CTD-3148I10.15_ENST00000595815.1_RNA|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Missense_Mutation_p.A90P|FLT3LG_ENST00000344019.3_Missense_Mutation_p.A90P|FLT3LG_ENST00000204637.2_Missense_Mutation_p.A8P|FLT3LG_ENST00000597551.1_Missense_Mutation_p.A90P|FLT3LG_ENST00000594009.1_Missense_Mutation_p.A90P			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	90					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAAGACTGTCGCTGGGTCCAA	0.607000											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637526	17637526	+	Silent	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:17637526A>C	ENST00000262077.2	-	16	2321	c.2322T>G	c.(2320-2322)tcT>tcG	p.S774S	NUP153_ENST00000537253.1_Silent_p.S805S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	774					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGCAGCTGGAAGATGAAGCAG	0.443000													8	76					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824582	42824582	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:42824582G>A	ENST00000398600.2	+	18	2569	c.1544G>A	c.(1543-1545)aGa>aAa	p.R515K	MX1_ENST00000455164.2_Missense_Mutation_p.R515K|MX1_ENST00000288383.6_Missense_Mutation_p.R492K|MX1_ENST00000398598.3_Missense_Mutation_p.R515K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	515					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAACAAGAGAGAGAAGGTGAG	0.433000													20	71					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476669	28476669	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:28476669T>C	ENST00000383768.2	+	4	589	c.401T>C	c.(400-402)gTt>gCt	p.V134A	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.V134A			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	134	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GATGGAAATGTTGAAGAGTAT	0.363000													4	43					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067361	44067361	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:44067361G>A	ENST00000344290.5	+	8	1622	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.E434K|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E434K|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E434K	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	434					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TGTGTGCCCAGAGCCACCTTC	0.512000													4	190					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598206	52598206	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:52598206G>A	ENST00000521508.1	+	3	345	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ACAGATACTAGAAGGTGCTTT	0.343000													11	62					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25666735	25666735	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:25666735G>A	ENST00000376436.1	-	2	590	c.51C>T	c.(49-51)gtC>gtT	p.V17V	ZNF337_ENST00000538750.1_Silent_p.V17V|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Silent_p.V17V					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATCCACAGTGACATCCCCAA	0.552000													6	82					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470645	7470645	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:7470645C>G	ENST00000399422.4	+	5	836	c.788C>G	c.(787-789)tCa>tGa	p.S263*		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	263					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGAAGTCCTCAGATATCATA	0.423000													4	40					0	0	1	0	0
ICT1	3396	broad.mit.edu	37	17	73016592	73016592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:73016592A>T	ENST00000301585.5	+	5	389	c.376A>T	c.(376-378)Aag>Tag	p.K126*		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	126					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GCATAAAAACAAGATCAACAG	0.443000													4	39					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1979563	1979563	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:1979563T>C	ENST00000255641.8	+	9	1418	c.923T>C	c.(922-924)cTg>cCg	p.L308P		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	308	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGACTACCTGCGGAAGCTC	0.642000													7	37					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46387037	46387037	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:46387037C>T	ENST00000291634.6	+	4	489	c.441C>T	c.(439-441)ctC>ctT	p.L147L	FAM207A_ENST00000397826.3_Silent_p.L132L|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	147																	TGCACCCTCTCAGGGATGCCC	0.677000													7	18					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083766	56083766	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:56083766C>T	ENST00000582730.2	-	2	440	c.317G>A	c.(316-318)gGa>gAa	p.G106E	SRSF1_ENST00000584773.1_Missense_Mutation_p.G106E|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Missense_Mutation_p.G106E	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	106	Gly-rich (hinge region).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGGGGAGCTCCGCCACCTCC	0.632000													6	35					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14487801	14487801	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:14487801C>G	ENST00000344204.4	+	48	7088	c.7064C>G	c.(7063-7065)tCt>tGt	p.S2355C	TRIO_ENST00000537187.1_Missense_Mutation_p.S2355C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2355					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGGTCTCCTCTGCAGCCTCG	0.766000													11	7					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8376056	8376056	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:8376056G>C	ENST00000332175.8	+	23	4182	c.3145G>C	c.(3145-3147)Gaa>Caa	p.E1049Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E987Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E836Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1063Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1062Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1049	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGTGTGCATGAAATCCGAGA	0.527000													9	73					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43565432	43565432	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:43565432G>T	ENST00000372236.4	+	5	785		c.e5-1		POLH_ENST00000535400.1_Splice_Site|POLH_ENST00000372226.1_Splice_Site	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta						DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATTCATTTCAGAGGGGATGCG	0.358000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				3	41					0.115264	0.116083	1	1	0
ADORA2B	136	broad.mit.edu	37	17	15848739	15848739	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:15848739C>A	ENST00000304222.2	+	1	509	c.177C>A	c.(175-177)ttC>ttA	p.F59L		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	59					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGGGGCTCTTCGCCATCCCCT	0.652000													5	13					5.9392e-07	6.32622e-07	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36793376	36793376	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:36793376G>A	ENST00000399881.3	+	27	3425	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1130						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAAAGAAAATGAAAGGAAAAC	0.383000													5	18					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134161828	134161828	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:134161828G>C	ENST00000392638.2	+	6	1089	c.894G>C	c.(892-894)gaG>gaC	p.E298D	LRRC27_ENST00000368612.1_Missense_Mutation_p.E236D|LRRC27_ENST00000368610.3_Missense_Mutation_p.E236D|LRRC27_ENST00000432555.2_Missense_Mutation_p.E171D|LRRC27_ENST00000368613.4_Missense_Mutation_p.E298D|LRRC27_ENST00000368615.3_Missense_Mutation_p.E298D|LRRC27_ENST00000344079.5_Missense_Mutation_p.E298D|LRRC27_ENST00000368614.3_Missense_Mutation_p.E298D			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	298										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGAACATTGAGAAAGAACTAC	0.423000													50	42					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333278	54333278	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:54333278G>A	ENST00000243056.3	+	1	744	c.588G>A	c.(586-588)ggG>ggA	p.G196G	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	196						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TGGTGCCCGGGATCAGCGGGC	0.657000			T	NUP98	AML								9	12					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427803	71427803	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:71427803C>G	ENST00000373657.1	-	3	1047	c.445G>C	c.(445-447)Gat>Cat	p.D149H	ERCC6L_ENST00000334463.3_Missense_Mutation_p.D272H|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	272	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAGCAAAATCAAATAGGGAC	0.423000													7	42					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47703166	47703166	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:47703166C>T	ENST00000455779.1	+	27	2632	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PHKB_ENST00000566044.1_Missense_Mutation_p.S816F|PHKB_ENST00000299167.8_Missense_Mutation_p.S823F|PHKB_ENST00000323584.5_Missense_Mutation_p.S823F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	823					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAAGTTATCTCTAATCCTTTG	0.368000													9	49					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101599431	101599431	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:101599431C>T	ENST00000310954.6	-	4	1142	c.856G>A	c.(856-858)Gga>Aga	p.G286R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	286					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)		AGCAGTTGTCCTCCCAATACA	0.363000													16	51					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34534377	34534377	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:34534377G>C	ENST00000354181.3	-	17	2580	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	SLC12A6_ENST00000397707.2_Missense_Mutation_p.F681L|SLC12A6_ENST00000560611.1_Missense_Mutation_p.F696L|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F687L|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F637L|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F508L|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F645L|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F696L|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F637L|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F508L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	696					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGAAGAAATGAACATCAGAG	0.363000													3	43					0	0	1	0	0
DAP	1611	broad.mit.edu	37	5	10748303	10748303	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:10748303C>G	ENST00000230895.6	-	2	339	c.136G>C	c.(136-138)Gaa>Caa	p.E46Q	DAP_ENST00000432074.2_Missense_Mutation_p.E46Q|DAP_ENST00000510546.1_5'UTR	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	46					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTTTCCCATTCCTGGTCATCC	0.433000													6	63					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007228	130007228	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:130007228G>A	ENST00000485477.1	+	10	1983	c.854G>A	c.(853-855)aGc>aAc	p.S285N	CPA5_ENST00000466363.2_Missense_Mutation_p.S285N|CPA5_ENST00000431780.2_Missense_Mutation_p.S285N|CPA5_ENST00000393213.3_Missense_Mutation_p.S285N|CPA5_ENST00000461828.1_Missense_Mutation_p.S285N|CPA5_ENST00000355388.3_Missense_Mutation_p.S285N|CPA5_ENST00000474905.1_Missense_Mutation_p.S285N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	285					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGTTCTAACAGCAACCCCTGC	0.522000													4	43					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869949	35869949	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:35869949G>A	ENST00000377981.2	-	1	512	c.450C>T	c.(448-450)gtC>gtT	p.V150V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCAGAGGACCCAGGCAG	0.612000													9	23					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48431707	48431707	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:48431707C>T	ENST00000417961.1	+	2	399	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SLC9A8_ENST00000361573.2_Silent_p.F63F|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	63						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGACCATTTTCTTCAGCCTCC	0.582000													8	46					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086196	126086196	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:126086196C>G	ENST00000339582.2	-	10	3469	c.2661G>C	c.(2659-2661)gaG>gaC	p.E887D	GRM8_ENST00000358373.3_Missense_Mutation_p.E887D|GRM8_ENST00000444921.2_Missense_Mutation_p.E887D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	887					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTCAAGACTCTCACAGAGTT	0.458000										HNSCC(24;0.065)			6	117					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49237778	49237778	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:49237778C>A	ENST00000308025.3	-	3	344	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	89	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CGATCTCGGTCCTTCTTATTC	0.488000													12	164					2.61681e-11	2.82989e-11	1	1	0
ALS2	57679	broad.mit.edu	37	2	202622166	202622166	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:202622166C>T	ENST00000264276.6	-	5	1802	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	477					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCGACTGCCTCCCTCTGTTTC	0.428000													3	42					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45915202	45915202	+	Translation_Start_Site	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:45915202C>A	ENST00000530705.1	-	1	303	c.3G>T	c.(1-3)atG>atT	p.M1I	TPT1_ENST00000309246.5_Start_Codon_SNP_p.M1I|TPT1_ENST00000379055.1_5'UTR|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000379056.1_5'UTR|TPT1_ENST00000379060.4_5'UTR			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	1					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		GGTAGATAATCATGATGGCGA	0.672000													7	3					0.00448238	0.00461262	1	1	0
NPAT	4863	broad.mit.edu	37	11	108043625	108043625	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:108043625C>T	ENST00000278612.8	-	13	2191	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	696					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.E696K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGACTGTTTTCTACAGGAGTG	0.418000													9	41					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7571004	7571004	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:7571004C>T	ENST00000361664.2	+	7	1301	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	387										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGCAGAAAGCGCCCAACCTC	0.647000													11	22					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35743657	35743657	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:35743657C>T	ENST00000400441.3	-	19	2453	c.2454G>A	c.(2452-2454)caG>caA	p.Q818Q	MROH8_ENST00000441008.2_Silent_p.Q804Q|MROH8_ENST00000217333.8_Silent_p.Q647Q					maestro heat-like repeat family member 8																		GCAGGAGTATCTGGATGGCTG	0.468000													14	160					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73902000	73902000	+	RNA	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:73902000C>T	ENST00000450720.1	+	0	953					NR_003683.2																						ACAAGCCTATCAGCAAGAAGG	0.483000													4	60					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60749768	60749768	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:60749768C>T	ENST00000395076.4	+	2	777	c.347C>T	c.(346-348)tCa>tTa	p.S116L	PPM1A_ENST00000529574.1_Missense_Mutation_p.S116L|PPM1A_ENST00000325658.3_Missense_Mutation_p.S116L|PPM1A_ENST00000325642.3_Missense_Mutation_p.S189L	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	116					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGAGTTATGTCAGAGAAGAAA	0.408000													6	54					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917975	89917975	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:89917975C>T	ENST00000548729.1	-	3	645	c.343G>A	c.(343-345)Gat>Aat	p.D115N	POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.D118N|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ATTCTTTTATCCTCTATGTGT	0.423000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498511	75498511	+	Missense_Mutation	SNP	G	G	A	rs150862421		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:75498511G>A	ENST00000360639.2	+	2	442	c.122G>A	c.(121-123)tGc>tAc	p.C41Y	C15orf39_ENST00000394987.4_Missense_Mutation_p.C41Y|C15orf39_ENST00000567617.1_Missense_Mutation_p.C41Y			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	41										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGGATCCCTGCACCTACAAG	0.602000													5	40					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976676	38976676	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:38976676G>C	ENST00000359357.3	+	87	12904	c.12650G>C	c.(12649-12651)cGg>cCg	p.R4217P	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4181P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGAGACCCGGGAGGCTATT	0.433000													38	55					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678360	46678360	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:46678360G>A	ENST00000274793.7	-	8	895	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PLA2G7_ENST00000541026.1_Silent_p.L106L|PLA2G7_ENST00000537365.1_Silent_p.L233L|PLA2G7_ENST00000538237.1_Silent_p.L188L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	233					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAATCAGACTGAGAGCTTGGG	0.299000													7	40					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78221936	78221936	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:78221936C>T	ENST00000361193.3	+	14	1582	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	SLC26A11_ENST00000546047.2_Silent_p.D434D|SLC26A11_ENST00000572725.1_Silent_p.D434D|SLC26A11_ENST00000411502.3_Silent_p.D434D	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	434						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TAGGGCTGGACCTGCTGCCCC	0.662000													4	29					0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13361330	13361330	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:13361330C>T	ENST00000327347.5	-	9	1366	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.E264K|SEPHS1_ENST00000378614.4_Missense_Mutation_p.E260K	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	331					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GCTGCTTGCTCACGTGGTAAA	0.498000													44	216					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646669	124646669	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:124646669C>G	ENST00000311075.3	-	2	259	c.221G>C	c.(220-222)aGt>aCt	p.S74T		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	74	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACTATGTGTACTAATTATGGG	0.463000													28	101					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054063	160054063	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:160054063G>A	ENST00000368088.3	+	2	485	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	81					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGTGGCTGATCGCCTACG	0.652000													3	22					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76856024	76856024	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:76856024T>C	ENST00000373344.5	-	23	5790	c.5576A>G	c.(5575-5577)aAt>aGt	p.N1859S	ATRX_ENST00000395603.3_Missense_Mutation_p.N1821S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1859					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCACTATTATTGCCCACACC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	94					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:42922574C>T	ENST00000372561.3	+	1	345	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647000													7	73					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27280235	27280235	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:27280235G>A	ENST00000360131.4	+	9	1759	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D534N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	534					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGCCATGACAATGGGCG	0.517000													8	61					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:55063741C>T	ENST00000505374.1	+	7	459	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333000													3	31					0	0	1	0	0
C17orf103	256302	broad.mit.edu	37	17	21147529	21147529	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:21147529C>T	ENST00000468196.1	-	2	259	c.114G>A	c.(112-114)atG>atA	p.M38I	C17orf103_ENST00000399011.2_Missense_Mutation_p.D38N			Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	0										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						ACGGCCCGGTCATGACATCCT	0.617000													5	16					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127693603	127693603	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:127693603C>G	ENST00000373555.4	-	4	551	c.218G>C	c.(217-219)aGa>aCa	p.R73T		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	73						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ACCAGAAAGTCTGGCCTCTAA	0.418000													26	53					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3547564	3547564	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:3547564C>A	ENST00000270708.7	-	12	1431	c.1358G>T	c.(1357-1359)tGc>tTc	p.C453F	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	453						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CAGCTGTCTGCAGGCTGTGCC	0.572000													12	43					2.32078e-09	2.49705e-09	1	1	0
IPO8	10526	broad.mit.edu	37	12	30792627	30792627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:30792627G>A	ENST00000256079.4	-	21	2649	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.R566*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	771					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGACCCCTCGAGTTAATCTC	0.408000													7	56					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26393148	26393148	+	Missense_Mutation	SNP	G	G	A	rs114098566	by1000genomes	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:26393148G>A	ENST00000356709.4	+	8	1636	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	BTN2A2_ENST00000352867.2_Missense_Mutation_p.E393K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.E299K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E509K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	509					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGTGCCTGAAGAGGGCCT	0.552000													11	44					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044785	43044785	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:43044785C>T	ENST00000267890.6	-	14	2767	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	887					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGCAAGTCTTCACTCATGATG	0.408000													25	40					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82750779	82750779	+	Missense_Mutation	SNP	C	C	T	rs57682951		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:82750779C>T	ENST00000256151.7	-	2	835	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						TGAGGCTGGTCAAAGCTACAC	0.348000													7	55					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728920	167728920	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:167728920G>C	ENST00000230256.3	+	8	1529	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	UNC93A_ENST00000366829.2_Missense_Mutation_p.E410Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	452						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAGGATGAAGAAATACAAAC	0.522000													5	89					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45577205	45577205	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:45577205G>A	ENST00000347635.4	+	6	1508	c.1042G>A	c.(1042-1044)Gta>Ata	p.V348I	NUP50_ENST00000425733.2_Missense_Mutation_p.V98I|NUP50_ENST00000407019.2_Missense_Mutation_p.V320I|NUP50_ENST00000396096.2_Missense_Mutation_p.V320I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACCCAAAGTAGTAGTTACCGA	0.398000													5	34					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49494690	49494690	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:49494690C>T	ENST00000323798.3	-	2	365	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	GYS1_ENST00000263276.6_Missense_Mutation_p.E57K|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	57					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCGCCCCATTCGTCCCCTGTC	0.662000													32	129					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554245	28554245	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:28554245C>T	ENST00000452236.2	-	1	867	c.250G>A	c.(250-252)Gag>Aag	p.E84K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	84	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTATGTATCTCTGGGTTCAGC	0.572000													13	66					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109536206	109536206	+	Silent	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:109536206C>G	ENST00000336865.2	+	1	284	c.75C>G	c.(73-75)ctC>ctG	p.L25L	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	0					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGCTGCAGCTCTTGAGCCGCC	0.697000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				8	35					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88029382	88029382	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:88029382A>C	ENST00000307808.6	+	10	1847	c.1427A>C	c.(1426-1428)gAc>gCc	p.D476A	AFF1_ENST00000544085.1_Missense_Mutation_p.D114A|AFF1_ENST00000395146.4_Missense_Mutation_p.D483A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	476						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCACCAGTGACTCAGACAGT	0.517000													13	24					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27943829	27943829	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:27943829C>T	ENST00000345068.5	-	8	1108	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Missense_Mutation_p.E299K|CORO6_ENST00000388767.3_Missense_Mutation_p.E299K|CORO6_ENST00000580212.1_Missense_Mutation_p.E259K|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Missense_Mutation_p.E299K|CORO6_ENST00000456796.3_Missense_Mutation_p.E65K			Q6QEF8	CORO6_HUMAN	coronin 6	299					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						AAAGGCGGCTCGTCGGTAATC	0.587000													7	122					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251739	98251739	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:98251739G>A	ENST00000284311.3	+	1	997	c.862G>A	c.(862-864)Gga>Aga	p.G288R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	288						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GGAGGTGAGTGGACCCTTGGC	0.502000													9	68					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895180	39895180	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:39895180C>T	ENST00000373186.4	-	1	275	c.138G>A	c.(136-138)cgG>cgA	p.R46R	MOCS1_ENST00000432280.2_Silent_p.R17R|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000340692.5_Silent_p.R46R|MOCS1_ENST00000308559.7_Silent_p.R46R|MOCS1_ENST00000373188.2_Silent_p.R46R|MOCS1_ENST00000373175.4_Silent_p.R17R|MOCS1_ENST00000425303.2_Silent_p.R46R	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	46	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAACTGCCTCCGCCTGGACA	0.657000													6	24					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185880860	185880860	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:185880860C>T	ENST00000271588.4	+	6	1077	c.848C>T	c.(847-849)tCt>tTt	p.S283F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S283F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	283					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCCATAACTCTGCCAAAGTA	0.398000													18	87					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113201984	113201984	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:113201984T>C	ENST00000261965.3	-	10	1304	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.D373G	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	373					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TATTTTGGGATCATAGGTCCA	0.517000													17	43					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40747077	40747077	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:40747077G>A	ENST00000337702.4	-	2	196	c.44C>T	c.(43-45)tCa>tTa	p.S15L	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	15							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTGACCTTTGAGACCTTCTC	0.388000													13	52					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39104861	39104861	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:39104861G>A	ENST00000216044.5	+	2	437	c.204G>A	c.(202-204)gtG>gtA	p.V68V		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	68					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGTTCTAGTGAGCCCTACAT	0.498000													3	26					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750651	30750651	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:30750651C>T	ENST00000262518.4	+	34	9675	c.9290C>T	c.(9289-9291)gCa>gTa	p.A3097V	SRCAP_ENST00000395059.2_Missense_Mutation_p.A3035V|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2939V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3097					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGACTTAGCAGATAGCGGG	0.607000													8	35					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563500	55563500	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:55563500G>T	ENST00000335605.1	+	1	469	c.469G>T	c.(469-471)Ggc>Tgc	p.G157C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGGCATGTTTGGCCCCTTGGT	0.498000													8	75					0.00307968	0.00317685	1	1	0
PTPRM	5797	broad.mit.edu	37	18	7926630	7926630	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:7926630C>T	ENST00000332175.8	+	5	1649	c.612C>T	c.(610-612)ttC>ttT	p.F204F	PTPRM_ENST00000400053.4_Silent_p.F142F|PTPRM_ENST00000400060.4_Silent_p.F204F|PTPRM_ENST00000580170.1_Silent_p.F204F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	204	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTGCTACCTTCCAGTGCAGTG	0.463000													12	51					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482259	71482259	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:71482259C>G	ENST00000393539.2	-	6	2482	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E499Q|ZNF23_ENST00000428724.2_Missense_Mutation_p.E499Q|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.E557Q|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.E557Q	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGGTTTCTCTCCTGTATGG	0.433000													10	34					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53133453	53133453	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:53133453G>A	ENST00000607203.1	-	1	16	c.17C>T	c.(16-18)tCa>tTa	p.S6L	RFT1_ENST00000296292.3_Silent_p.I384I|RFT1_ENST00000394738.3_Silent_p.I345I																							TCACTCCATTGATGGCAAGCA	0.498000													5	48					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268580	52268580	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:52268580C>T	ENST00000442253.2	+	2	743	c.569C>T	c.(568-570)tCt>tTt	p.S190F	PAQR8_ENST00000360726.3_Missense_Mutation_p.S190F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	190					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512000													10	80					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675429	7675429	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:7675429C>A	ENST00000446248.2	+	8	1010	c.909C>A	c.(907-909)ttC>ttA	p.F303L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.F276L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	276	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGCAGGATTTCTGTGCCTCTC	0.627000													5	126					0.00116845	0.00120825	1	1	0
SPA17	53340	broad.mit.edu	37	11	124564318	124564318	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:124564318T>C	ENST00000532692.1	+	4	1853	c.432T>C	c.(430-432)aaT>aaC	p.N144N	SPA17_ENST00000227135.2_Silent_p.N144N|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	144					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTTCAAAATGAGGAAAAAG	0.393000													8	51					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45691472	45691472	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr22:45691472C>G	ENST00000216211.4	+	6	768	c.736C>G	c.(736-738)Cac>Gac	p.H246D	UPK3A_ENST00000396082.2_Missense_Mutation_p.H125D	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	246					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAACGACTCACGACTCCCA	0.592000													18	54					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678906	130678906	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:130678906C>T	ENST00000338616.3	+	1	957	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GTTGAACCCCCTGATATATAG	0.393000													20	27					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42087020	42087020	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:42087020G>C	ENST00000244020.3	+	2	233	c.127G>C	c.(127-129)Gag>Cag	p.E43Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	43	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CGTGGAGTTCGAGGACTCCCG	0.721000													6	16					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35310557	35310557	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:35310557G>A	ENST00000225402.5	+	3	906	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	219					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CAAAGTTTCTGAGGAAGTGGA	0.463000													12	117					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28844908	28844908	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:28844908T>C	ENST00000399613.1	+	12	1326	c.1263T>C	c.(1261-1263)atT>atC	p.I421I	PAN3_ENST00000282391.5_Silent_p.I309I|PAN3_ENST00000380958.3_Silent_p.I621I			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	621	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGGCATATATTGTCCAACTAA	0.423000													6	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943323	55943323	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:55943323C>T	ENST00000373965.2	-	14	1886	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E491K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E498K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E491K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E491K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E491K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E491K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E491K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E469K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E491K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E102K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E496K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E454K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E469K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	491	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGACTGGCTCACTTTCTTGT	0.378000										HNSCC(58;0.16)			7	47					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49710506	49710506	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:49710506G>A	ENST00000492622.2	+	6	834	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E177K|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E121K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	177						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTTAGAGATGAACGATCTAG	0.378000													10	32					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254126	155254126	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:155254126G>T	ENST00000357232.4	-	9	1736	c.1737C>A	c.(1735-1737)caC>caA	p.H579Q	DCHS2_ENST00000339452.1_Missense_Mutation_p.H1078Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		AGGATGGGCTGTGTTCGCGTT	0.562000													20	29					4.35082e-09	4.65768e-09	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45872213	45872213	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:45872213G>A	ENST00000391945.4	-	4	298	c.221C>T	c.(220-222)tCa>tTa	p.S74L	ERCC2_ENST00000221481.6_Missense_Mutation_p.S74L|ERCC2_ENST00000485403.2_Missense_Mutation_p.S50L|ERCC2_ENST00000391944.3_Missense_Mutation_p.S74L|ERCC2_ENST00000391940.4_Missense_Mutation_p.S50L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	74	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACAGTTCTTGAGCAGTAGAT	0.582000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	65					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084858	42084858	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:42084858G>A	ENST00000293404.3	+	5	1382	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	422	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CTACGTCTCCGAGGGGTAAGC	0.697000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38781187	38781187	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:38781187G>A	ENST00000591889.1	+	3	197	c.197G>A	c.(196-198)aGa>aAa	p.R66K	SPINT2_ENST00000301244.7_Silent_p.E188E|SPINT2_ENST00000587090.1_Silent_p.E138E|SPINT2_ENST00000454580.3_Silent_p.E131E																							GCCAGCAGGAGAATCCTCCCC	0.642000													3	24					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912084	158912084	+	Silent	SNP	G	G	A	rs146874992		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:158912084G>A	ENST00000368140.1	+	5	1142	c.897G>A	c.(895-897)gaG>gaA	p.E299E	PYHIN1_ENST00000392252.3_Silent_p.E290E|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Silent_p.E299E|PYHIN1_ENST00000368138.3_Silent_p.E290E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	299	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAACGTTTGAGGTTCCAAAGG	0.353000													5	46					0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670387	156670387	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:156670387C>T	ENST00000368222.3	-	3	467	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	CRABP2_ENST00000368221.1_Missense_Mutation_p.G105S	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	105					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	GTCTTGGGGCCCTCTCCCTTC	0.547000													5	69					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176378563	176378563	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:176378563G>C	ENST00000377219.2	-	9	1521	c.1355C>G	c.(1354-1356)tCc>tGc	p.S452C	UIMC1_ENST00000511320.1_Missense_Mutation_p.S452C|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.S452C|UIMC1_ENST00000506128.1_Missense_Mutation_p.S286C	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	452	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTTTCAGAGGAACTTAGCTG	0.323000													7	102					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411741	43411741	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:43411741G>A	ENST00000187910.2	-	4	1037	c.972C>T	c.(970-972)acC>acT	p.T324T	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.T324T	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGACATTCAGGGTGACTGGGT	0.522000													13	119					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337086	104337086	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:104337086G>A	ENST00000358755.4	+	4	1069	c.752G>A	c.(751-753)gGa>gAa	p.G251E	FZD6_ENST00000522566.1_Missense_Mutation_p.G251E|FZD6_ENST00000523739.1_Missense_Mutation_p.G219E|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	251					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TACTTCATTGGATTTTTGCTA	0.388000													3	55					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44620694	44620694	+	Silent	SNP	T	T	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:44620694T>G	ENST00000457408.2	-	4	584	c.532A>C	c.(532-534)Agg>Cgg	p.R178R	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000481238.1_Silent_p.R178R|TMED4_ENST00000444131.2_5'UTR	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	178					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCACTTGCCCTTTGGTAATCC	0.488000													3	35					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31288029	31288029	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:31288029G>A	ENST00000544665.3	+	10	1118	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	ITGAM_ENST00000287497.8_Silent_p.E349E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	349					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTGAGCATGAGATGTCTCAGG	0.512000													5	8					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636535	42636535	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:42636535G>A	ENST00000315323.3	+	1	1611	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	493					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGAGCGCTCGTGGGTGAGCC	0.627000													6	38					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119887216	119887216	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:119887216C>T	ENST00000464295.1	-	10	1553	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	GPR156_ENST00000315843.3_Missense_Mutation_p.E370K|GPR156_ENST00000461057.1_Missense_Mutation_p.E366K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	370						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGCAGGCTTTCAATCACAGCA	0.498000													5	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485545	179485545	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:179485545G>A	ENST00000589042.1	-	247	46016	c.45792C>T	c.(45790-45792)ctC>ctT	p.L15264L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.L6324L|TTN_ENST00000342992.6_Silent_p.L12696L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.L13623L|TTN_ENST00000342175.6_Silent_p.L6391L|TTN_ENST00000460472.2_Silent_p.L6199L|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13623	Fibronectin type-III 11.						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)			CTCTAATTCTGAGGGTGTAGA	0.368000													12	108					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30771630	30771630	+	Silent	SNP	G	G	C	rs140609394		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr16:30771630G>C	ENST00000543610.1	-	4	1405	c.444C>G	c.(442-444)ctC>ctG	p.L148L	C16orf93_ENST00000545825.1_Silent_p.L148L|C16orf93_ENST00000541260.1_Silent_p.L148L|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	148										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAGATCCTGGAGCAGGGCAC	0.607000													8	45					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226032876	226032876	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:226032876C>G	ENST00000366837.4	+	9	1392	c.1196C>G	c.(1195-1197)tCt>tGt	p.S399C	EPHX1_ENST00000272167.5_Missense_Mutation_p.S399C|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	399					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACTGGCTTCTCTGCCTTCCCT	0.572000													8	135					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854178	40854178	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr18:40854178C>T	ENST00000255224.3	-	2	584	c.216G>A	c.(214-216)aaG>aaA	p.K72K	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.K54K	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	72						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGCTCCAAACTTCTTTTTGC	0.363000													10	32					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942760	10942760	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:10942760T>C	ENST00000298232.7	-	12	994	c.627A>G	c.(625-627)aaA>aaG	p.K209K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.K227K|TPTE_ENST00000342420.5_Silent_p.K189K	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	227					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTATCGCCTTTTGTTTTCTG	0.333000													14	208					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118828036	118828036	+	Silent	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:118828036C>A	ENST00000264031.2	+	3	362	c.327C>A	c.(325-327)ctC>ctA	p.L109L	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	109					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGACAAACCTCGTGCCAGGAA	0.592000											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0.00024832	0.000258034	1	1	0
TRIM27	5987	broad.mit.edu	37	6	28889711	28889711	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:28889711C>T	ENST00000377199.3	-	2	830	c.474G>A	c.(472-474)aaG>aaA	p.K158K	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Silent_p.K158K	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	158					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCGACGTCTCTTCTTTAAAT	0.463000			T	RET	papillary thyroid								6	103					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97274337	97274337	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:97274337G>C	ENST00000517309.1	+	1	395	c.69G>C	c.(67-69)atG>atC	p.M23I	PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	23					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATTTCCGGATGATCAACGAGC	0.587000													12	28					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118609445	118609445	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:118609445G>A	ENST00000336338.5	-	18	2528	c.2463C>T	c.(2461-2463)gtC>gtT	p.V821V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	821						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATTGTGAAAGACTAAAAGTA	0.353000													8	47					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58088031	58088031	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:58088031G>C	ENST00000315970.7	+	1	128	c.87G>C	c.(85-87)ggG>ggC	p.G29G	OS9_ENST00000439210.2_Silent_p.G29G|OS9_ENST00000551035.1_Silent_p.G29G|OS9_ENST00000389142.5_Silent_p.G29G|OS9_ENST00000257966.8_Silent_p.G29G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Silent_p.G29G|OS9_ENST00000389146.6_Silent_p.G29G|OS9_ENST00000413095.2_Silent_p.G29G|OS9_ENST00000435406.2_Silent_p.G29G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	29					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCGGTGTCGGGAGCCTGAACC	0.597000													11	45					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765477	113765477	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:113765477G>A	ENST00000259211.6	+	4	744	c.333G>A	c.(331-333)caG>caA	p.Q111Q		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	111					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						ACCACAGCCAGAGTGGCAGGA	0.517000													5	73					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13462410	13462410	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:13462410C>G	ENST00000288723.4	-	4	518	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RAB28_ENST00000338176.4_Missense_Mutation_p.E102Q|RAB28_ENST00000330852.5_Missense_Mutation_p.E102Q	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	102					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TCTAAATTCTCAAAGCTTTGA	0.338000													10	36					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101016307	101016307	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:101016307C>G	ENST00000360863.6	-	17	2668	c.2474G>C	c.(2473-2475)gGa>gCa	p.G825A	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.G644A|RGS22_ENST00000523437.1_Missense_Mutation_p.G813A	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	825					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AATGCCAGTTCCAATTTCACA	0.328000													4	85					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902063	247902063	+	Silent	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:247902063G>T	ENST00000283225.2	+	1	147	c.147G>T	c.(145-147)ctG>ctT	p.L49L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCATGATTCTGGACCATCGTC	0.473000													4	71					0.150653	0.151366	1	1	0
CYP20A1	57404	broad.mit.edu	37	2	204131303	204131303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:204131303C>T	ENST00000356079.4	+	5	622	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.H167Y	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	167						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CCTCAGCCAGCATATGCTTGG	0.428000													10	59					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897406	182897406	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:182897406T>C	ENST00000328913.3	-	29	3477	c.3180A>G	c.(3178-3180)gaA>gaG	p.E1060E	MCF2L2_ENST00000473233.1_Silent_p.E1060E	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1060					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTGGCTGCTTTCTCCCCTCT	0.572000													6	88					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945909	72945909	+	Silent	SNP	C	C	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:72945909C>A	ENST00000311131.2	+	3	1172	c.705C>A	c.(703-705)ggC>ggA	p.G235G	P2RY2_ENST00000393597.2_Silent_p.G235G|P2RY2_ENST00000393596.2_Silent_p.G235G	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	235					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTCGGGCGGCCTGCCTAGGG	0.647000													12	27					2.80697e-09	3.01254e-09	1	1	0
GLP2R	9340	broad.mit.edu	37	17	9757847	9757847	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:9757847G>A	ENST00000574745.1	+	0	431				GLP2R_ENST00000262441.5_Silent_p.L180L			O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor						G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCTTGCAGCTGATGTACACCG	0.527000													14	175					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24773757	24773757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:24773757G>A	ENST00000267425.3	+	9	1799	c.1706G>A	c.(1705-1707)tGg>tAg	p.W569*	NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1			NOP9 nucleolar protein									p.W569L(1)									GATGCCATCTGGAGTGGAGCA	0.542000													5	38					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29311676	29311676	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:29311676G>A	ENST00000328381.5	+	2	1287	c.414G>A	c.(412-414)ctG>ctA	p.L138L	RNF135_ENST00000324689.4_Silent_p.L138L|RNF135_ENST00000535306.2_Silent_p.L138L|RNF135_ENST00000443677.2_Intron	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	138					innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CTCAGGAGCTGACAGAGCTGG	0.498000													26	45					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152477490	152477490	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:152477490C>G	ENST00000397345.3	-	72	10705	c.10503G>C	c.(10501-10503)ttG>ttC	p.L3501F	NEB_ENST00000603639.1_Missense_Mutation_p.L3501F|NEB_ENST00000409198.1_Missense_Mutation_p.L3258F|NEB_ENST00000604864.1_Missense_Mutation_p.L3501F|NEB_ENST00000427231.2_Missense_Mutation_p.L3501F|NEB_ENST00000172853.10_Missense_Mutation_p.L3258F	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3501					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCACTTCTCAAGTCATAGC	0.448000													7	11					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130913680	130913680	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:130913680T>C	ENST00000409031.1	-	14	2482	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	SMPD4_ENST00000453750.1_Missense_Mutation_p.Q194R|SMPD4_ENST00000351288.6_Missense_Mutation_p.Q416R|SMPD4_ENST00000339679.7_Missense_Mutation_p.Q303R|SMPD4_ENST00000426662.2_Missense_Mutation_p.Q81R|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000452225.2_Missense_Mutation_p.Q186R|SMPD4_ENST00000431183.2_Missense_Mutation_p.Q343R|SMPD4_ENST00000443958.2_Missense_Mutation_p.Q109R	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	406					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCGCCACGGCTGCAGGTAGCT	0.647000													5	21					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28501052	28501052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:28501052G>A	ENST00000261609.7	-	19	2945	c.2837C>T	c.(2836-2838)tCa>tTa	p.S946L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	946					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGTAAGGCTGACTCCAACCC	0.498000													3	43					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8078452	8078452	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:8078452G>A	ENST00000075120.7	-	7	1194	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	318					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AAACTACAGTGAAGATAGTAT	0.433000													4	47					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459777	36459777	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:36459777G>A	ENST00000265748.2	+	11	2090		c.e11-1		ANLN_ENST00000396068.2_Splice_Site	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein						cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTTCCCACAGAGTTTAGTGT	0.358000													5	35					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147044	111147044	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:111147044C>T	ENST00000485317.1	-	3	1034	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.E121K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E121K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E121K			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	121						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TCCATCGCTTCTTCTCCCAGC	0.463000													4	28					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85488003	85488003	+	Silent	SNP	G	G	A	rs139130563	byFrequency	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:85488003G>A	ENST00000370589.2	-	10	1228	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.L336L|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	392						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CAAAGAAACCGAGGTATCGGA	0.423000													3	25					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775363	23775363	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:23775363A>T	ENST00000354639.3	+	7	1085	c.621A>T	c.(619-621)caA>caT	p.Q207H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q207H|STK31_ENST00000355870.3_Missense_Mutation_p.Q230H|STK31_ENST00000433467.2_Missense_Mutation_p.Q230H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	230							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCCTGGTCAACTTGTTCTCA	0.453000													13	45					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081600	152081600	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:152081600C>T	ENST00000368804.1	-	2	4092	c.4093G>A	c.(4093-4095)Gag>Aag	p.E1365K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1365	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGTTCCTCTTCGCGGAAT	0.557000													29	343					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225698	26225698	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:26225698G>A	ENST00000360408.1	+	1	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGGGCTTTTCGAGGACACCAA	0.587000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	55					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55408345	55408345	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:55408345G>A	ENST00000360586.3	-	26	3318	c.3253C>T	c.(3253-3255)Cgt>Tgt	p.R1085C	WDHD1_ENST00000421192.1_Missense_Mutation_p.R962C|WDHD1_ENST00000359167.4_Missense_Mutation_p.R603C|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1085						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373000													6	39					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4162457	4162457	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:4162457A>T	ENST00000305958.4	+	4	668	c.443A>T	c.(442-444)aAc>aTc	p.N148I	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Missense_Mutation_p.N148I|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000278795.3_Missense_Mutation_p.N148I|SMOX_ENST00000379460.2_Missense_Mutation_p.N148I	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	148					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CAGGTCTATAACTTGACCCAG	0.532000													4	70					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76254912	76254912	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:76254912G>A	ENST00000319942.3	+	3	251	c.180G>A	c.(178-180)atG>atA	p.M60I	RABGGTB_ENST00000370826.3_Missense_Mutation_p.M60I|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	60					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGGATCTCATGGGACAACTTC	0.378000													7	60					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173455477	173455477	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:173455477C>T	ENST00000340385.5	+	4	615	c.483C>T	c.(481-483)ctC>ctT	p.L161L	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	161	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATGAGATTCTCAGGGTAGTCA	0.453000													7	115					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35989825	35989825	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:35989825G>C	ENST00000297866.5	+	12	2159	c.2093G>C	c.(2092-2094)aGa>aCa	p.R698T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	698										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						AATTCAATTAGAGCGAATCGA	0.453000													13	10					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	79					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75482236	75482236	+	RNA	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:75482236G>C	ENST00000399449.3	-	0	606				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							AGGTGGGTGAGAACTCCCATA	0.403000													4	39					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51522333	51522333	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:51522333C>T	ENST00000309958.3	-	2	272	c.54G>A	c.(52-54)gcG>gcA	p.A18A	KLK10_ENST00000391805.1_Silent_p.A18A|KLK10_ENST00000358789.3_Silent_p.A18A	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	18					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.A18A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCAGCAGCTTCGCCAGAGCCC	0.692000													3	13					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548108	23548108	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:23548108G>A	ENST00000262710.1	-	7	2429	c.2102C>T	c.(2101-2103)tCa>tTa	p.S701L	ACIN1_ENST00000457657.1_Missense_Mutation_p.S661L|ACIN1_ENST00000555053.1_Missense_Mutation_p.S701L|ACIN1_ENST00000605057.1_Missense_Mutation_p.S643L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	701					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GACAGAGGATGAGGAGGTGGA	0.537000													4	33					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75107979	75107979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:75107979G>A	ENST00000401621.2	-	5	484	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Nonsense_Mutation_p.Q122*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Q122*|TTC18_ENST00000340329.3_Nonsense_Mutation_p.Q122*			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	122							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTGTTGTTTGAAATGAACTC	0.443000													5	33					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925467	150925467	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:150925467C>T	ENST00000261800.5	-	9	5233	c.5221G>A	c.(5221-5223)Gat>Aat	p.D1741N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1741	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGACATCAGTAAATGCA	0.413000													17	80					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75470288	75470288	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:75470288G>C	ENST00000266126.5	+	3	399	c.319G>C	c.(319-321)Gag>Cag	p.E107Q		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	107					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGATCAGCAGGAGTCCCTGCA	0.522000													3	43					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153504334	153504334	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:153504334G>A	ENST00000288670.9	+	26	3561	c.3194G>A	c.(3193-3195)cGa>cAa	p.R1065Q	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	1065	DAD.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CCATACAGACGAGCCGATGCG	0.493000													7	87					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189911	71189911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:71189911G>T	ENST00000234396.4	+	9	863	c.790G>T	c.(790-792)Gag>Tag	p.E264*	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Nonsense_Mutation_p.E264*	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	264					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCCAGGATCGAGCGGATCAT	0.582000													16	26					1.33834e-09	1.44364e-09	1	1	0
APBA1	320	broad.mit.edu	37	9	72072053	72072053	+	Silent	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:72072053A>G	ENST00000265381.4	-	7	1740	c.1518T>C	c.(1516-1518)gcT>gcC	p.A506A	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	506	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGCCTTCAGGAGCCTGAGAAG	0.493000													7	62					0	0	1	0	0
CEBPG	1054	broad.mit.edu	37	19	33870338	33870338	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:33870338T>C	ENST00000284000.4	+	2	855	c.193T>C	c.(193-195)Tat>Cat	p.Y65H	CEBPG_ENST00000585933.2_Missense_Mutation_p.Y65H	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma						B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CAGTGACGAGTATCGGCAACG	0.542000													3	24					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436091	56436091	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:56436091G>A	ENST00000327381.6	+	3	1358	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGTCCACTGTGAGACAGAATT	0.473000													29	127					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945861	88945861	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:88945861G>A	ENST00000556564.1	-	13	2198	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	PTPN21_ENST00000328736.3_Silent_p.I638I	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	638						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGCCACCTCGATGCTGTTCC	0.731000													6	32					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33225730	33225730	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:33225730G>A	ENST00000374820.2	-	4	338	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PIGU_ENST00000452740.2_Silent_p.L126L			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	126					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGGTCCGGATGAGTTCGGCCA	0.418000													7	53					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42393784	42393784	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:42393784C>G	ENST00000426726.3	+	9	1259	c.985C>G	c.(985-987)Ctg>Gtg	p.L329V	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.L324V|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.L329V	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	329					small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACGCCCCTCTGGCCCAGGG	0.612000													7	28					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105925	168105925	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:168105925A>G	ENST00000409195.1	+	9	8112	c.8023A>G	c.(8023-8025)Att>Gtt	p.I2675V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2675V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2453V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2500					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCTTGCGAAATTAAACAAAG	0.388000													6	55					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16532279	16532279	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:16532279C>T	ENST00000602009.1	-	4	1234	c.339G>A	c.(337-339)gtG>gtA	p.V113V	EPS15L1_ENST00000594975.1_Silent_p.V267V|EPS15L1_ENST00000455140.2_Silent_p.V267V|EPS15L1_ENST00000535753.2_Silent_p.V267V|EPS15L1_ENST00000597937.1_Silent_p.V267V|EPS15L1_ENST00000248070.6_Silent_p.V267V			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	267					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCACCCAGTTCACTGTTGGCT	0.493000													11	54					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79584175	79584175	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr10:79584175G>A	ENST00000372391.2	-	14	2354	c.2349C>T	c.(2347-2349)agC>agT	p.S783S	DLG5_ENST00000372388.2_Silent_p.S783S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	783	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGTCCTGGCAGCTGCGCAGCA	0.582000													9	16					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40667668	40667668	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr21:40667668C>G	ENST00000342449.3	-	7	688		c.e7+1		BRWD1_ENST00000333229.2_Splice_Site|BRWD1_ENST00000380800.3_Splice_Site	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTTACTCACTGTAAAGATT	0.348000													44	27					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40752969	40752969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:40752969C>T	ENST00000381782.2	+	2	754	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	NSUN7_ENST00000316607.5_Nonsense_Mutation_p.Q87*	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCAGTCCTTTCAGCGTTTGTC	0.448000													7	53					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431490	26431490	+	RNA	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:26431490G>A	ENST00000466808.2	+	0	1447																											AATCTGCTCTGCATTCACAGG	0.532000													7	71					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113402947	113402947	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr8:113402947G>C	ENST00000297405.5	-	36	6124	c.5880C>G	c.(5878-5880)gaC>gaG	p.D1960E	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1890E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1856E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1920E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1960	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAGATTGTTGTCATAAGGCT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	33					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50475366	50475366	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:50475366G>C	ENST00000228468.4	+	12	2044	c.1659G>C	c.(1657-1659)atG>atC	p.M553I	ASIC1_ENST00000447966.2_Missense_Mutation_p.M507I|ASIC1_ENST00000552438.1_Missense_Mutation_p.M541I	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	507					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGCCGGGATGACATACGCTG	0.642000													3	20					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444304	49444304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:49444304G>A	ENST00000301067.7	-	11	3066	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCGAACACTGAGGAGGAAGG	0.627000													4	42					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055461	72055461	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:72055461G>C	ENST00000555818.1	+	2	1220	c.872G>C	c.(871-873)gGa>gCa	p.G291A	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G291A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G291A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	291					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCTGAAACTGGAGACTCATCT	0.433000													23	45					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290112	83290112	+	Silent	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:83290112G>C	ENST00000549919.1	+	4	2957	c.1152G>C	c.(1150-1152)acG>acC	p.T384T	TMTC2_ENST00000321196.3_Silent_p.T390T|TMTC2_ENST00000548305.1_Silent_p.T390T			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	390						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTTCTACGGAGAACATTG	0.408000													11	95					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12242003	12242003	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:12242003G>A	ENST00000256194.4	+	9	1492	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	MICAL2_ENST00000379612.3_Missense_Mutation_p.E402K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E402K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E402K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E402K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	402						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGCTTGCTTGAGGTACTGCC	0.597000													6	30					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118083210	118083210	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:118083210G>A	ENST00000292067.7	-	2	521	c.80C>T	c.(79-81)tCa>tTa	p.S27L	AMICA1_ENST00000526620.1_5'UTR|AMICA1_ENST00000533261.1_Missense_Mutation_p.S37L|AMICA1_ENST00000356289.5_Missense_Mutation_p.S37L	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	37	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		CATCAGAGCTGAATCACCCAC	0.473000													6	55					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145539408	145539408	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:145539408C>G	ENST00000369304.3	+	26	3252	c.3077C>G	c.(3076-3078)cCt>cGt	p.P1026R	ITGA10_ENST00000538811.1_Missense_Mutation_p.P895R|ITGA10_ENST00000539363.1_Missense_Mutation_p.P883R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1026					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGCCCACCTGTGCATCCA	0.542000													5	32					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43477448	43477448	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:43477448G>T	ENST00000372441.1	-	1	976	c.76C>A	c.(76-78)Cgc>Agc	p.R26S		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	26																	GCGTTGTCGCGAAGGCCGCGG	0.741000													3	12					1	1	1	1	0
TRIM26	7726	broad.mit.edu	37	6	30153743	30153743	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr6:30153743G>A	ENST00000454678.2	-	10	1966	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	TRIM26_ENST00000453195.1_Silent_p.L510L|TRIM26_ENST00000437089.1_Silent_p.L510L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	510	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						AGGTGTAGATGAGTTCCTGTG	0.607000													5	19					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47102076	47102076	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:47102076G>A	ENST00000377107.2	+	12	1894	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	USP11_ENST00000218348.3_Missense_Mutation_p.E557K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	557					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTATCAGCTAGAGGAGCCTCT	0.527000													4	24					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48317780	48317780	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:48317780C>G	ENST00000435803.1	+	18	7013	c.6989C>G	c.(6988-6990)tCa>tGa	p.S2330*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2330					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACATTTTTTCAAGTTTAAAG	0.284000													5	7					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022689	97022689	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr14:97022689G>T	ENST00000216277.8	+	19	2163	c.1943G>T	c.(1942-1944)gGa>gTa	p.G648V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.G648V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	648					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCTATAGTAGGAGTCAAGAGG	0.398000													16	80					1.3612e-06	1.44267e-06	1	1	0
P2RY13	53829	broad.mit.edu	37	3	151045986	151045986	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:151045986C>G	ENST00000325602.5	-	2	877	c.858G>C	c.(856-858)aaG>aaC	p.K286N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	286						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TACAGTCAGTCTTATTGTTGG	0.363000													8	65					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37354468	37354468	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:37354468A>G	ENST00000310758.4	-	4	825	c.178T>C	c.(178-180)Tat>Cat	p.Y60H	ELMO1_ENST00000442504.1_Missense_Mutation_p.Y60H|ELMO1_ENST00000448602.1_Missense_Mutation_p.Y60H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	60					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCTGTGATATAGAAGTTTGAA	0.353000													35	39					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99380453	99380453	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:99380453G>A	ENST00000370188.3	-	5	1182	c.822C>T	c.(820-822)ttC>ttT	p.F274F	LPPR5_ENST00000263177.4_Silent_p.F274F	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		274						integral to membrane	hydrolase activity										GTCTCCCTTTGAAATTATTCA	0.388000													4	88					0	0	1	0	0
PGPEP1	54858	broad.mit.edu	37	19	18451503	18451503	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:18451503G>A	ENST00000269919.6	+	1	107	c.12G>A	c.(10-12)ccG>ccA	p.P4P	PGPEP1_ENST00000595066.1_Silent_p.P4P|PGPEP1_ENST00000597431.2_Silent_p.P4P|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000604499.2_Silent_p.P4P	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I								cysteine-type peptidase activity										TGGAGCAGCCGAGGAAGGCGG	0.736000													3	7					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520532	179520532	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:179520532C>G	ENST00000367615.4	-	8	996	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	NPHS2_ENST00000367616.4_Missense_Mutation_p.E242Q|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	310					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GACAGAATCTCAGCTGCCATC	0.507000													3	42					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701869	8701869	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:8701869G>A	ENST00000329805.4	-	1	798	c.570C>T	c.(568-570)gtC>gtT	p.V190V		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	190						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCCCCGAAGTGACAGGATGGA	0.562000													14	54					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877677	82877677	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:82877677G>A	ENST00000298281.4	+	5	2190	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	580					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCAGGCACTGAACCAAAGGA	0.388000													8	49					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155432	151155432	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr3:151155432G>A	ENST00000282466.3	-	6	6916	c.6917C>T	c.(6916-6918)tCa>tTa	p.S2306L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2306	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCTGAATCTGAAAGCCTCAC	0.438000													7	127					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013389	99013389	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:99013389G>C	ENST00000393504.1	+	8	2173	c.1756G>C	c.(1756-1758)Gag>Cag	p.E586Q	CNGA3_ENST00000409937.1_Missense_Mutation_p.E590Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.E568Q|CNGA3_ENST00000272602.2_Missense_Mutation_p.E586Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	586					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGATCTCATGGAGGCCCTCAC	0.582000													10	44					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65959945	65959945	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr15:65959945A>C	ENST00000443035.3	-	29	5295	c.5080T>G	c.(5080-5082)Ttg>Gtg	p.L1694V	DENND4A_ENST00000431932.2_Missense_Mutation_p.L1651V	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCATTTTCCAATAAGCTTTCA	0.403000													7	31					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188350	135188350	+	Silent	SNP	C	C	T	rs141621757		TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:135188350C>T	ENST00000274513.5	+	4	433	c.261C>T	c.(259-261)ctC>ctT	p.L87L	SLC25A48_ENST00000420621.1_Silent_p.L87L|SLC25A48_ENST00000412661.2_Silent_p.L87L|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.L33L			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	87					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.L87L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCGGTTCCTCAGCCAGCACC	0.642000													7	50					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86255102	86255102	+	Silent	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr2:86255102T>C	ENST00000263857.6	-	33	5346	c.4968A>G	c.(4966-4968)ccA>ccG	p.P1656P	POLR1A_ENST00000409681.1_Silent_p.P1595P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1656					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCGATTCAGTGGCTTGTAAA	0.512000													18	59					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050080	110050080	+	Silent	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:110050080G>A	ENST00000369864.4	-	2	1804	c.1455C>T	c.(1453-1455)gtC>gtT	p.V485V	AMIGO1_ENST00000369862.1_Silent_p.V485V			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	485					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TATCAGAGAAGACCGAGCTGA	0.577000													6	55					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200522795	200522795	+	Silent	SNP	A	A	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr1:200522795A>T	ENST00000367350.4	-	30	5106	c.4668T>A	c.(4666-4668)gtT>gtA	p.V1556V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1556	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						CATAGCTGCCAACAGAAGTAG	0.408000													3	70					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401108	11401108	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:11401108G>C	ENST00000002596.5	-	2	1696	c.522C>G	c.(520-522)atC>atG	p.I174M		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	174						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACTCCTCGATGGACGGGT	0.587000													5	50					0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35384168	35384168	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr20:35384168G>C	ENST00000426836.1	-	9	1162	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.Q264E|DSN1_ENST00000448110.2_Missense_Mutation_p.Q248E|DSN1_ENST00000373734.4_Missense_Mutation_p.Q157E|DSN1_ENST00000373740.3_Missense_Mutation_p.Q192E|DSN1_ENST00000373750.4_Missense_Mutation_p.Q264E	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	264					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACTTCATTCTGAGAAGACCCA	0.388000													5	66					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76409469	76409469	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr13:76409469G>C	ENST00000357063.3	+	19	4743	c.3483G>C	c.(3481-3483)caG>caC	p.Q1161H	LMO7_ENST00000465261.2_Missense_Mutation_p.Q876H|LMO7_ENST00000321797.8_Missense_Mutation_p.Q876H|LMO7_ENST00000526202.1_Missense_Mutation_p.Q753H|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1161H|LMO7_ENST00000341547.4_Missense_Mutation_p.Q827H			Q8WWI1	LMO7_HUMAN	LIM domain 7	1161						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGCCTTCAGAGTTCTGTGA	0.353000													16	25					0	0	1	0	0
TMEM261	90871	broad.mit.edu	37	9	7799694	7799694	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr9:7799694G>A	ENST00000358227.4	-	1	373	c.41C>T	c.(40-42)aCt>aTt	p.T14I	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1			transmembrane protein 261	14																	GGGAGGCGCAGTGATATAGGA	0.637000													10	25					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023937	12023937	+	Silent	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:12023937C>T	ENST00000396505.2	-	3	499	c.261G>A	c.(259-261)ctG>ctA	p.L87L	DKK3_ENST00000525493.1_Silent_p.L87L|DKK3_ENST00000450094.2_Silent_p.L87L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Silent_p.L87L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	87					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTAAGTTTGCCAGGTTCACTT	0.398000													3	51					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10094307	10094307	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:10094307C>G	ENST00000380861.4	+	15	2458	c.2067C>G	c.(2065-2067)taC>taG	p.Y689*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.Y689*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	689	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCAGTTATACGTGTGTTCAG	0.572000													6	51					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912396	26912396	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:26912396G>C	ENST00000321765.5	-	9	2226	c.1894C>G	c.(1894-1896)Cag>Gag	p.Q632E		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	632	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ACTGTCTGCTGAACCAGCTCT	0.463000													5	74					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36168486	36168486	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:36168486C>T	ENST00000274255.6	+	5	804	c.608C>T	c.(607-609)tCt>tTt	p.S203F	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.S203F	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATACTGTCTCAGTGTTCC	0.498000													9	195					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50383538	50383538	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:50383538C>G	ENST00000221543.5	+	4	497	c.198C>G	c.(196-198)gaC>gaG	p.D66E	TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.D33E	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	66						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCTAAGGACTCCAGTGGGG	0.537000													8	39					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117273771	117273771	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:117273771G>A	ENST00000257575.4	+	9	1272	c.1039G>A	c.(1039-1041)Gac>Aac	p.D347N	RNFT2_ENST00000407967.3_Missense_Mutation_p.D347N|RNFT2_ENST00000392549.2_Missense_Mutation_p.D347N|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	347						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCAGTCCTTCGACATCTGTGG	0.572000													4	39					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127873107	127873107	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr5:127873107G>A	ENST00000508053.1	-	7	1164	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	FBN2_ENST00000262464.4_Missense_Mutation_p.R64C|FBN2_ENST00000508989.1_Missense_Mutation_p.R64C			P35556	FBN2_HUMAN	fibrillin 2	64					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCTCCTCGCGATACTCGGGC	0.721000													4	9					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843634	4843634	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr11:4843634T>C	ENST00000322110.5	+	1	1084	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATAAAGCCATTTATGAATAA	0.358000													8	35					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919384	39919384	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:39919384C>T	ENST00000393931.3	-	8	1466	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	JUP_ENST00000393930.1_Missense_Mutation_p.D450N|JUP_ENST00000310706.5_Missense_Mutation_p.D450N|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	450					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCCGTGATGTCGTCCTTGTCA	0.597000													4	43					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1801132	1801132	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr4:1801132delC	ENST00000340107.4	+	3	517	c.261delC	c.(259-261)gtcfs	p.V87fs	FGFR3_ENST00000481110.2_Frame_Shift_Del_p.V87fs|FGFR3_ENST00000352904.1_Frame_Shift_Del_p.V87fs|FGFR3_ENST00000412135.2_Frame_Shift_Del_p.V87fs|FGFR3_ENST00000260795.2_Frame_Shift_Del_p.V87fs|FGFR3_ENST00000440486.2_Frame_Shift_Del_p.V87fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	87	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGGAGCGTGTCCTGGTGGGGC	0.706		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				10	16	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr7:72667747delT	ENST00000425256.1	-	0	633																											tttttttttcttttttttttt	0.388													5	11	---	---	---	---					
LHX5	64211	broad.mit.edu	37	12	113909295	113909296	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr12:113909295_113909296delCA	ENST00000261731.3	-	1	581_582	c.8_9delTG	c.(7-9)gtgfs	p.V3fs	LHX5_ENST00000557836.1_5'UTR	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	3	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CGGCGCAGTGCACCATCATAGC	0.688													2	4	---	---	---	---					
LOC101929767	101929767	broad.mit.edu	37	17	41321890	41321890	+	RNA	DEL	T	T	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:41321890delT	ENST00000590740.1	-	0	278																											CGCAGTCACGTTTTTTTCCCC	0.567													11	5	---	---	---	---					
ACOX1	51	broad.mit.edu	37	17	73946892	73946893	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr17:73946892_73946893insAA	ENST00000537812.1	-	9	1794_1795	c.1146_1147insTT	c.(1144-1149)tttgagfs	p.E383fs	ACOX1_ENST00000293217.5_Frame_Shift_Ins_p.E421fs|ACOX1_ENST00000301608.4_Frame_Shift_Ins_p.E421fs	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	421					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TTTTCTCCCTCAAAGGTACAGC	0.460													38	55	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12444294	12444303	+	Translation_Start_Site	DEL	CATTTCCCGG	CATTTCCCGG	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:12444294_12444303delCATTTCCCGG	ENST00000293725.5	-	0	199_208				ZNF563_ENST00000595977.1_Start_Codon_Del	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCACACGCACCATTTCCCGGCTTCCGGGAT	0.667													10	108	---	---	---	---					
ZNF613	79898	broad.mit.edu	37	19	52448462	52448462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chr19:52448462delT	ENST00000293471.6	+	6	2005	c.1326delT	c.(1324-1326)tgtfs	p.C442fs	ZNF613_ENST00000391794.4_Frame_Shift_Del_p.C406fs|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGAAGACATGTTTAATATCCC	0.438													7	60	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53574783	53574785	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-XF-A9SJ-01A-11D-A391-08	TCGA-XF-A9SJ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675bc0e7-1d68-4813-ade1-ef00ad6f1610	aa154f93-c7c7-42ff-98f6-2aceb5d35fa3	g.chrX:53574783_53574785delGTG	ENST00000342160.3	-	67	10942_10944	c.10485_10487delCAC	c.(10483-10488)accact>act	p.3495_3496TT>T	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_In_Frame_Del_p.3495_3496TT>T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3495	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggaggcggcagtggtggtggtgg	0.591													2	4	---	---	---	---